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
PER3	8863	broad.mit.edu	37	1	7845483	7845483	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:7845483delT	uc001aoo.2	+						PER3_uc009vmg.1_Intron|PER3_uc009vmh.1_Intron|PER3_uc001aop.2_Intron|PER3_uc010nzw.1_Intron|PER3_uc001aon.2_Intron	NM_016831	NP_058515			period 3						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)														---	---	---	---
FBXO42	54455	broad.mit.edu	37	1	16632518	16632518	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16632518delT	uc001ayg.2	-						FBXO42_uc001ayf.2_Intron|FBXO42_uc001ayh.2_Intron	NM_018994	NP_061867			F-box protein 42											upper_aerodigestive_tract(1)|skin(1)	2		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;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)														---	---	---	---
GPR3	2827	broad.mit.edu	37	1	27716438	27716438	+	5'Flank	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27716438delA	uc001bod.2	+							NM_005281	NP_005272			G protein-coupled receptor 3						activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane				ovary(1)	1		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)														---	---	---	---
KPNA6	23633	broad.mit.edu	37	1	32628723	32628723	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32628723delA	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)																---	---	---	---
Unknown	0	broad.mit.edu	37	1	38733363	38733364	+	IGR	INS	-	CCTTCCTCCTT	CCTTCCTCCTT	rs142813208	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38733363_38733364insCCTTCCTCCTT								POU3F1 (220913 upstream) : RRAGC (571651 downstream)																																			---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39785384	39785385	+	Frame_Shift_Ins	INS	-	A	A	rs146466275		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39785384_39785385insA	uc010ois.1	+	32	4214_4215	c.4009_4010insA	c.(4009-4011)CAAfs	p.Q1337fs	MACF1_uc001cda.1_Frame_Shift_Ins_p.Q1245fs|MACF1_uc001cdc.1_Frame_Shift_Ins_p.Q424fs|MACF1_uc009vvq.1_Frame_Shift_Ins_p.Q394fs|MACF1_uc001cdb.1_Frame_Shift_Ins_p.Q424fs	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1337					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)															---	---	---	---
PPT1	5538	broad.mit.edu	37	1	40554959	40554959	+	Intron	DEL	A	-	-	rs35753001		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40554959delA	uc001cfb.2	-						PPT1_uc010ojf.1_Intron|PPT1_uc010ojg.1_Intron|PPT1_uc009vwa.2_Intron	NM_000310	NP_000301			palmitoyl-protein thioesterase 1 isoform 1						brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity			ovary(1)	1	Lung NSC(20;3.43e-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;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)															---	---	---	---
EIF2B3	8891	broad.mit.edu	37	1	45424938	45424938	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45424938delT	uc001cmt.1	-						EIF2B3_uc001cmu.1_Intron|EIF2B3_uc001cmv.1_Intron|EIF2B3_uc001cmw.2_Intron	NM_020365	NP_065098			eukaryotic translation initiation factor 2B,						negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---
PIK3R3	8503	broad.mit.edu	37	1	46546081	46546081	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46546081delT	uc001cpb.3	-						PIK3R3_uc009vyb.2_Intron|PIK3R3_uc009vyc.2_Intron|PIK3R3_uc001cpc.3_Intron|PIK3R3_uc010olw.1_Intron	NM_003629	NP_003620			phosphoinositide-3-kinase, regulatory subunit 3						insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding				0	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---
MKNK1	8569	broad.mit.edu	37	1	47037895	47037895	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47037895delT	uc001cqb.2	-						MKNK1_uc010omd.1_Intron|MKNK1_uc001cqc.2_Intron|MKNK1_uc009vyi.2_Intron|MKNK1_uc010ome.1_Intron|MKNK1_uc009vyj.2_Intron|MKNK1_uc001cqd.2_Intron	NM_003684	NP_003675			MAP kinase-interacting serine/threonine kinase 1						intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)	2	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---
Unknown	0	broad.mit.edu	37	1	48209133	48209135	+	IGR	DEL	TGA	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:48209133_48209135delTGA								FOXD2 (302771 upstream) : SKINTL (358252 downstream)																																			---	---	---	---
RNF11	26994	broad.mit.edu	37	1	51717113	51717113	+	Intron	DEL	C	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:51717113delC	uc001csi.3	+							NM_014372	NP_055187			ring finger protein 11						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	DNA binding|protein binding|zinc ion binding				0																		---	---	---	---
TM2D1	83941	broad.mit.edu	37	1	62189461	62189461	+	Intron	DEL	A	-	-	rs147863719		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62189461delA	uc001czz.1	-							NM_032027	NP_114416			beta-amyloid binding protein precursor						apoptosis					ovary(1)	1																		---	---	---	---
SLC35D1	23169	broad.mit.edu	37	1	67517592	67517592	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:67517592delT	uc001ddk.2	-						SLC35D1_uc010oph.1_Intron	NM_015139	NP_055954			solute carrier family 35 (UDP-glucuronic						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)													---	---	---	---
SPATA1	64173	broad.mit.edu	37	1	84981989	84981989	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:84981989delA	uc001djz.1	+	2	212	c.13delA	c.(13-15)AAAfs	p.K5fs	SPATA1_uc001djx.2_Frame_Shift_Del_p.K5fs|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)														---	---	---	---
PTBP2	58155	broad.mit.edu	37	1	97279080	97279080	+	3'UTR	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:97279080delT	uc001drq.2	+	14					PTBP2_uc001drn.2_3'UTR|PTBP2_uc001dro.2_3'UTR|PTBP2_uc010otz.1_3'UTR|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_3'UTR|PTBP2_uc001drr.2_3'UTR|PTBP2_uc010oua.1_3'UTR|PTBP2_uc001dru.2_RNA|PTBP2_uc001drs.1_3'UTR|PTBP2_uc001drt.2_3'UTR	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)														---	---	---	---
GSTM2	2946	broad.mit.edu	37	1	110215802	110215802	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110215802delT	uc001dyi.2	+						GSTM2_uc001dyj.2_Intron|GSTM2_uc010ovt.1_Intron|GSTM2_uc009wfk.2_Intron	NM_000848	NP_000839			glutathione S-transferase mu 2 isoform 1						glutathione metabolic process|xenobiotic catabolic process	cytoplasm	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;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)													---	---	---	---
FAM40A	85369	broad.mit.edu	37	1	110589510	110589510	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110589510delA	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)														---	---	---	---
ATP1A1	476	broad.mit.edu	37	1	116933158	116933158	+	Intron	DEL	G	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:116933158delG	uc001ege.2	+						ATP1A1_uc010owv.1_Intron|ATP1A1_uc010oww.1_Intron|ATP1A1_uc010owx.1_Intron	NM_000701	NP_000692			Na+/K+ -ATPase alpha 1 subunit isoform a						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)													---	---	---	---
ARHGEF11	9826	broad.mit.edu	37	1	156933272	156933272	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156933272delA	uc001fqo.2	-						ARHGEF11_uc001fqn.2_Intron	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)																	---	---	---	---
CASQ1	844	broad.mit.edu	37	1	160168300	160168300	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160168300delA	uc010pja.1	+							NM_001231	NP_001222			calsequestrin 1							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)															---	---	---	---
RABGAP1L	9910	broad.mit.edu	37	1	174210539	174210540	+	Intron	INS	-	A	A	rs78454143	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:174210539_174210540insA	uc001gjx.2	+						RABGAP1L_uc009wwq.1_Intron|RABGAP1L_uc001gjw.2_Intron	NM_014857	NP_055672			RAB GTPase activating protein 1-like isoform A						regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			ovary(2)|lung(1)|kidney(1)	4																		---	---	---	---
XPR1	9213	broad.mit.edu	37	1	180805950	180805950	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:180805950delT	uc001goi.2	+						XPR1_uc009wxn.2_Intron	NM_004736	NP_004727			xenotropic and polytropic retrovirus receptor							integral to plasma membrane	G-protein coupled receptor activity				0																		---	---	---	---
C1orf14	81626	broad.mit.edu	37	1	182920666	182920669	+	Intron	DEL	TTTT	-	-	rs77465244		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:182920666_182920669delTTTT	uc001gpu.2	-						C1orf14_uc001gpv.2_Intron|C1orf14_uc010pnz.1_Intron|C1orf14_uc001gpw.2_Intron	NM_030933	NP_112195			chromosome 1 open reading frame 14												0				Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)														---	---	---	---
RNF2	6045	broad.mit.edu	37	1	185069236	185069236	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:185069236delA	uc001grc.1	+						RNF2_uc001grd.1_Intron|RNF2_uc001gre.1_Intron	NM_007212	NP_009143			ring finger protein 2						histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			breast(1)	1		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)														---	---	---	---
TPR	7175	broad.mit.edu	37	1	186307132	186307132	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186307132delT	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								---	---	---	---
ZBTB41	360023	broad.mit.edu	37	1	197159832	197159833	+	Intron	INS	-	C	C	rs141683962	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197159832_197159833insC	uc001gtx.1	-						ZBTB41_uc009wyz.1_Intron	NM_194314	NP_919290			zinc finger and BTB domain containing 41						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---
CAMSAP1L1	23271	broad.mit.edu	37	1	200816521	200816523	+	Intron	DEL	GTG	-	-	rs2172666		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200816521_200816523delGTG	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																		---	---	---	---
NAV1	89796	broad.mit.edu	37	1	201749845	201749846	+	Intron	INS	-	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201749845_201749846insA	uc001gwu.2	+						NAV1_uc001gwv.1_Intron|NAV1_uc001gww.1_Intron|NAV1_uc001gwx.2_Intron|NAV1_uc001gwy.1_5'Flank	NM_020443	NP_065176			neuron navigator 1						cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4																		---	---	---	---
NUP133	55746	broad.mit.edu	37	1	229631436	229631436	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:229631436delA	uc001htn.2	-							NM_018230	NP_060700			nucleoporin 133kDa						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			breast(4)|skin(2)|ovary(1)	7	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)																---	---	---	---
TRIM58	25893	broad.mit.edu	37	1	248020822	248020822	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248020822delG	uc001ido.2	+	1	322	c.274delG	c.(274-276)GGGfs	p.G92fs		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	92	B box-type.					intracellular	zinc ion binding			skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)															---	---	---	---
KIDINS220	57498	broad.mit.edu	37	2	8877236	8877236	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:8877236delA	uc002qzc.2	-						KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Intron|KIDINS220_uc010yiw.1_Intron|KIDINS220_uc002qzb.2_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)																	---	---	---	---
DNMT3A	1788	broad.mit.edu	37	2	25551452	25551452	+	Intron	DEL	C	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:25551452delC	uc002rgc.2	-						DNMT3A_uc002rgd.2_Intron|DNMT3A_uc010eyi.2_Intron|DNMT3A_uc002rge.2_Intron|DNMT3A_uc002rgf.2_Intron	NM_022552	NP_072046			DNA cytosine methyltransferase 3 alpha isoform						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								---	---	---	---
Unknown	0	broad.mit.edu	37	2	38456196	38456197	+	IGR	DEL	AA	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:38456196_38456197delAA								C2orf58 (47205 upstream) : ATL2 (65834 downstream)																																			---	---	---	---
ABCG8	64241	broad.mit.edu	37	2	44101418	44101418	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44101418delA	uc002rtq.2	+						ABCG8_uc010yoa.1_Intron	NM_022437	NP_071882			ATP-binding cassette sub-family G member 8						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)																---	---	---	---
VRK2	7444	broad.mit.edu	37	2	58362160	58362161	+	Intron	DEL	AG	-	-	rs11678320	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:58362160_58362161delAG	uc002rzo.2	+						VRK2_uc010fcb.2_Intron|VRK2_uc002rzs.2_Intron|VRK2_uc002rzr.2_Intron|VRK2_uc010fcc.2_Intron|VRK2_uc002rzv.2_Intron|VRK2_uc010fcd.2_Intron|VRK2_uc002rzp.2_Intron|VRK2_uc010ypg.1_Intron|VRK2_uc002rzq.2_Intron|VRK2_uc002rzu.2_Intron|VRK2_uc002rzt.2_Intron	NM_001130482	NP_001123954			vaccinia related kinase 2 isoform 2							integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1																		---	---	---	---
PPP3R1	5534	broad.mit.edu	37	2	68413787	68413787	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:68413787delA	uc002sei.1	-							NM_000945	NP_000936			protein phosphatase 3, regulatory subunit B,						activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	calcineurin complex|cytosol	calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding				0					Pimecrolimus(DB00337)													---	---	---	---
ELMOD3	84173	broad.mit.edu	37	2	85595705	85595705	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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																		---	---	---	---
EDAR	10913	broad.mit.edu	37	2	109524512	109524512	+	Intron	DEL	G	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109524512delG	uc002teq.3	-						EDAR_uc010fjn.2_Intron|EDAR_uc010yws.1_Intron	NM_022336	NP_071731			ectodysplasin A receptor precursor						apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			skin(1)	1																		---	---	---	---
ZC3H6	376940	broad.mit.edu	37	2	113043538	113043538	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113043538delA	uc002thq.1	+							NM_198581	NP_940983			zinc finger CCCH-type domain containing 6								nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4																		---	---	---	---
ACVR2A	92	broad.mit.edu	37	2	148683686	148683686	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:148683686delA	uc002twg.2	+	11	1572	c.1303delA	c.(1303-1305)AAAfs	p.K435fs	ACVR2A_uc010zbn.1_Frame_Shift_Del_p.K327fs|ACVR2A_uc002twh.2_Frame_Shift_Del_p.K435fs	NM_001616	NP_001607	P27037	AVR2A_HUMAN	activin A receptor, type IIA precursor	435	Cytoplasmic (Potential).|Protein kinase.				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0969)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152524209	152524209	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152524209delT	uc010fnx.2	-							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)														---	---	---	---
BAZ2B	29994	broad.mit.edu	37	2	160242853	160242853	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:160242853delT	uc002uao.2	-						BAZ2B_uc002uap.2_Intron	NM_013450	NP_038478			bromodomain adjacent to zinc finger domain, 2B						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4																		---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196602560	196602560	+	3'UTR	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:196602560delA	uc002utj.3	-	65					DNAH7_uc002uti.3_3'UTR	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																		---	---	---	---
CCDC150	284992	broad.mit.edu	37	2	197584490	197584490	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197584490delA	uc002utp.1	+						CCDC150_uc010zgs.1_Intron|CCDC150_uc010zgt.1_Intron|CCDC150_uc002utq.1_Intron|CCDC150_uc002utr.1_Intron	NM_001080539	NP_001074008			coiled-coil domain containing 150												0																		---	---	---	---
NRP2	8828	broad.mit.edu	37	2	206659845	206659845	+	3'UTR	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:206659845delT	uc002vaw.2	+	17					NRP2_uc002vax.2_3'UTR|NRP2_uc002vay.2_3'UTR	NM_201266	NP_957718			neuropilin 2 isoform 1 precursor						angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
CRYGA	1418	broad.mit.edu	37	2	209028422	209028422	+	5'Flank	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209028422delT	uc002vcq.3	-							NM_014617	NP_055432			crystallin, gamma A						visual perception		structural constituent of eye lens				0				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)														---	---	---	---
TNS1	7145	broad.mit.edu	37	2	218673101	218673101	+	Intron	DEL	G	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:218673101delG	uc002vgt.2	-						TNS1_uc002vgr.2_Intron|TNS1_uc002vgs.2_Intron|TNS1_uc002vgq.2_Intron	NM_022648	NP_072174			tensin							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)														---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220348470	220348470	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220348470delG	uc010fwg.2	+	30	6285	c.6285delG	c.(6283-6285)CTGfs	p.L2095fs		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2095					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)														---	---	---	---
KCNE4	23704	broad.mit.edu	37	2	223917432	223917432	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:223917432delT	uc002vnl.3	+							NM_080671	NP_542402			potassium voltage-gated channel, Isk-related							integral to membrane	voltage-gated potassium channel activity			ovary(1)	1		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)														---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225661961	225661961	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:225661961delT	uc010fwz.1	-						DOCK10_uc002vob.2_Intron|DOCK10_uc002voa.2_Intron|DOCK10_uc002voc.2_Intron	NM_014689	NP_055504			dedicator of cytokinesis 10								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)														---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225714373	225714373	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:225714373delA	uc010fwz.1	-						DOCK10_uc002vob.2_Intron	NM_014689	NP_055504			dedicator of cytokinesis 10								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)														---	---	---	---
IRS1	3667	broad.mit.edu	37	2	227664893	227664893	+	5'Flank	DEL	G	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:227664893delG	uc002voh.3	-							NM_005544	NP_005535			insulin receptor substrate 1						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)														---	---	---	---
AGFG1	3267	broad.mit.edu	37	2	228388444	228388444	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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																		---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228846310	228846310	+	3'UTR	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:228846310delT	uc002vpq.2	-	12					SPHKAP_uc002vpp.2_3'UTR|SPHKAP_uc010zlx.1_3'UTR	NM_001142644	NP_001136116			sphingosine kinase type 1-interacting protein							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)														---	---	---	---
CLASP2	23122	broad.mit.edu	37	3	33668576	33668576	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:33668576delA	uc003cfu.2	-						CLASP2_uc003cft.2_Intron|CLASP2_uc010hgb.2_Intron|CLASP2_uc003cfv.2_Intron|CLASP2_uc011axu.1_Intron|CLASP2_uc003cfw.2_Intron|CLASP2_uc011axt.1_5'Flank	NM_015097	NP_055912			CLIP-associating protein 2											ovary(3)|central_nervous_system(1)	4																		---	---	---	---
ITGA9	3680	broad.mit.edu	37	3	37547431	37547431	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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)														---	---	---	---
DALRD3	55152	broad.mit.edu	37	3	49056032	49056033	+	5'Flank	INS	-	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49056032_49056033insT	uc003cvk.1	-						DALRD3_uc003cvl.1_5'Flank|DALRD3_uc003cvm.1_Intron|DALRD3_uc010hko.1_Intron|DALRD3_uc011bca.1_5'Flank|NDUFAF3_uc003cvn.2_5'Flank|NDUFAF3_uc003cvp.2_5'Flank	NM_001009996	NP_001009996			DALR anticodon binding domain containing 3						arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)														---	---	---	---
LAMB2	3913	broad.mit.edu	37	3	49162954	49162954	+	Intron	DEL	G	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49162954delG	uc003cwe.2	-						LAMB2_uc003cwf.1_Intron	NM_002292	NP_002283			laminin, beta 2 precursor						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)														---	---	---	---
C3orf18	51161	broad.mit.edu	37	3	50599336	50599336	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50599336delT	uc003das.2	-						C3orf18_uc003dar.2_Intron|C3orf18_uc011bdr.1_Intron|C3orf18_uc010hlo.2_Intron|C3orf18_uc010hlp.2_Intron|C3orf18_uc003dat.2_Intron	NM_016210	NP_057294			hypothetical protein LOC51161							integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207)														---	---	---	---
C3orf63	23272	broad.mit.edu	37	3	56657046	56657046	+	3'UTR	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:56657046delA	uc003did.3	-	23					C3orf63_uc003dib.3_3'UTR|C3orf63_uc003dic.3_3'UTR|C3orf63_uc003die.3_3'UTR	NM_015224	NP_056039			retinoblastoma-associated protein 140 isoform b											ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)														---	---	---	---
CGGBP1	8545	broad.mit.edu	37	3	88104473	88104473	+	3'UTR	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:88104473delT	uc003dqs.2	-	4					CGGBP1_uc003dqt.2_3'UTR|CGGBP1_uc003dqu.2_3'UTR	NM_001008390	NP_001008391			CGG triplet repeat binding protein 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding				0		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)														---	---	---	---
TBC1D23	55773	broad.mit.edu	37	3	100042414	100042414	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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																		---	---	---	---
Unknown	0	broad.mit.edu	37	3	112243552	112243552	+	IGR	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:112243552delA								BTLA (25144 upstream) : ATG3 (7808 downstream)																																			---	---	---	---
KALRN	8997	broad.mit.edu	37	3	123813849	123813849	+	Intron	DEL	G	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:123813849delG	uc003ehg.2	+						KALRN_uc003ehd.2_Intron|KALRN_uc003ehe.2_Intron|KALRN_uc010hru.1_Intron|KALRN_uc010hrv.1_Intron|KALRN_uc010hrw.1_Intron|KALRN_uc003ehf.1_Intron|KALRN_uc011bjy.1_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																		---	---	---	---
Unknown	0	broad.mit.edu	37	3	129239229	129239229	+	IGR	DEL	G	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129239229delG								IFT122 (39 upstream) : RHO (8253 downstream)																																			---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130381353	130381353	+	Intron	DEL	T	-	-	rs146981165		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130381353delT	uc010htl.2	+						COL6A6_uc003eni.3_Intron	NM_001102608	NP_001096078			collagen type VI alpha 6 precursor						axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8																		---	---	---	---
MECOM	2122	broad.mit.edu	37	3	169381201	169381201	+	5'UTR	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:169381201delT	uc011bpj.1	-	1					MECOM_uc011bpk.1_5'UTR|MECOM_uc010hwn.2_5'UTR|MECOM_uc011bpl.1_5'UTR	NM_004991	NP_004982			MDS1 and EVI1 complex locus isoform c						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																		---	---	---	---
KLHL24	54800	broad.mit.edu	37	3	183396774	183396774	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183396774delT	uc003flv.2	+						KLHL24_uc003flw.2_Intron	NM_017644	NP_060114			DRE1 protein							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	183436187	183436187	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183436187delT	uc003fly.2	+							NM_018023	NP_060493			YEATS domain containing 2						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)															---	---	---	---
VPS8	23355	broad.mit.edu	37	3	184552423	184552423	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184552423delT	uc003fpb.1	+						VPS8_uc010hyd.1_Intron|VPS8_uc003fpc.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)															---	---	---	---
ATP13A5	344905	broad.mit.edu	37	3	193039761	193039762	+	Intron	DEL	TG	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:193039761_193039762delTG	uc011bsq.1	-							NM_198505	NP_940907			ATPase type 13A5						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	193128638	193128638	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:193128638delT	uc003ftd.2	-						ATP13A4_uc010hzi.2_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)														---	---	---	---
PCYT1A	5130	broad.mit.edu	37	3	195984819	195984819	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:195984819delA	uc003fwg.2	-						PCYT1A_uc003fwh.2_Intron	NM_005017	NP_005008			choline phosphate cytidylyltransferase 1 alpha							cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity				0	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-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;0.00259)	Choline(DB00122)													---	---	---	---
FGFRL1	53834	broad.mit.edu	37	4	1015931	1015931	+	Intron	DEL	C	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1015931delC	uc003gce.2	+						FGFRL1_uc003gcf.2_Intron|FGFRL1_uc003gcg.2_Intron|FGFRL1_uc010ibo.2_Intron	NM_021923	NP_068742			fibroblast growth factor receptor-like 1						regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)															---	---	---	---
MAN2B2	23324	broad.mit.edu	37	4	6580903	6580904	+	Intron	INS	-	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:6580903_6580904insC	uc003gjf.1	+						MAN2B2_uc003gje.1_Intron|MAN2B2_uc011bwf.1_Intron	NM_015274	NP_056089			mannosidase, alpha, class 2B, member 2						mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	4	10412981	10412982	+	IGR	INS	-	CT	CT	rs143148489		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:10412981_10412982insCT								WDR1 (294408 upstream) : ZNF518B (28523 downstream)																																			---	---	---	---
TAPT1	202018	broad.mit.edu	37	4	16189981	16189981	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:16189981delA	uc010ied.1	-						TAPT1_uc011bxd.1_Intron|TAPT1_uc011bxe.1_Intron	NM_153365	NP_699196			transmembrane anterior posterior transformation							integral to membrane	growth hormone-releasing hormone receptor activity				0																		---	---	---	---
Unknown	0	broad.mit.edu	37	4	19815895	19815896	+	IGR	DEL	AA	-	-	rs145239076		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:19815895_19815896delAA								None (None upstream) : SLIT2 (439339 downstream)																																			---	---	---	---
SEPSECS	51091	broad.mit.edu	37	4	25158330	25158338	+	Intron	DEL	AAAAAAAAA	-	-	rs67652506		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:25158330_25158338delAAAAAAAAA	uc003grg.2	-						SEPSECS_uc003gri.2_Intron|SEPSECS_uc003grh.2_Intron	NM_153825	NP_722547			Sep (O-phosphoserine) tRNA:Sec (selenocysteine)						selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding				0		Breast(46;0.173)			Pyridoxal Phosphate(DB00114)													---	---	---	---
UBE2K	3093	broad.mit.edu	37	4	39773097	39773098	+	Intron	INS	-	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39773097_39773098insT	uc003guu.3	+						UBE2K_uc003gus.3_Intron|UBE2K_uc003gut.3_Intron|UBE2K_uc010ifn.2_Intron|UBE2K_uc011byq.1_Intron|UBE2K_uc003guq.3_Intron	NM_005339	NP_005330			ubiquitin-conjugating enzyme E2K isoform 1						protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|ubiquitin protein ligase binding|ubiquitin-ubiquitin ligase activity			ovary(1)	1																		---	---	---	---
GUF1	60558	broad.mit.edu	37	4	44680574	44680574	+	5'UTR	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:44680574delA	uc003gww.3	+	1					GUF1_uc010ifz.1_RNA	NM_021927	NP_068746			GUF1 GTPase homolog						translation	mitochondrial inner membrane	GTP binding|GTPase activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
NFXL1	152518	broad.mit.edu	37	4	47899965	47899965	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47899965delA	uc010igh.2	-						NFXL1_uc003gxp.2_Intron|NFXL1_uc003gxq.3_Intron|NFXL1_uc010igi.2_Intron	NM_152995	NP_694540			nuclear transcription factor, X-box binding-like							integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
UBA6	55236	broad.mit.edu	37	4	68547233	68547233	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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																		---	---	---	---
CSN1S1	1446	broad.mit.edu	37	4	70801630	70801630	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:70801630delT	uc003hep.1	+						CSN1S1_uc003heq.1_Intron|CSN1S1_uc003her.1_Intron	NM_001890	NP_001881			casein alpha s1 isoform 1							extracellular region	protein binding|transporter activity				0																		---	---	---	---
MRPL1	65008	broad.mit.edu	37	4	78793017	78793017	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:78793017delT	uc003hku.2	+							NM_020236	NP_064621			mitochondrial ribosomal protein L1 precursor								RNA binding				0																		---	---	---	---
C4orf36	132989	broad.mit.edu	37	4	87797940	87797940	+	Intron	DEL	A	-	-	rs72349471		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:87797940delA	uc003hqe.3	-							NM_144645	NP_653246			hypothetical protein LOC132989												0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)														---	---	---	---
PPM1K	152926	broad.mit.edu	37	4	89189773	89189773	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:89189773delA	uc003hrm.3	-							NM_152542	NP_689755			protein phosphatase 1K (PP2C domain containing)						protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)														---	---	---	---
EIF4E	1977	broad.mit.edu	37	4	99806216	99806216	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:99806216delA	uc003hue.2	-						EIF4E_uc011cea.1_Intron|EIF4E_uc011ceb.1_Intron	NM_001968	NP_001959			eukaryotic translation initiation factor 4E						G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity			lung(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)														---	---	---	---
NDST3	9348	broad.mit.edu	37	4	119147909	119147909	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:119147909delT	uc003ibx.2	+						NDST3_uc011cgf.1_Intron	NM_004784	NP_004775			N-deacetylase/N-sulfotransferase (heparan							Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1																		---	---	---	---
ADAD1	132612	broad.mit.edu	37	4	123301135	123301135	+	Intron	DEL	G	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123301135delG	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																		---	---	---	---
SCLT1	132320	broad.mit.edu	37	4	130014087	130014087	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:130014087delT	uc003igp.2	-						C4orf33_uc010ioc.1_5'Flank|C4orf33_uc003igu.3_5'Flank|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron|SCLT1_uc003igr.2_Intron|SCLT1_uc003igs.2_Intron|SCLT1_uc003igt.3_Intron	NM_144643	NP_653244			sodium channel associated protein 1							centrosome				ovary(3)|lung(1)|central_nervous_system(1)	5																		---	---	---	---
FNIP2	57600	broad.mit.edu	37	4	159754866	159754867	+	Intron	DEL	TT	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:159754866_159754867delTT	uc003iqe.3	+						FNIP2_uc003iqd.2_Frame_Shift_Del_p.G247fs	NM_020840	NP_065891			folliculin interacting protein 2						DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)														---	---	---	---
CLCN3	1182	broad.mit.edu	37	4	170556960	170556961	+	Intron	INS	-	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:170556960_170556961insT	uc003isi.2	+						CLCN3_uc003ish.2_Intron|CLCN3_uc011cjz.1_Intron|CLCN3_uc011cka.1_Intron	NM_001829	NP_001820			chloride channel 3 isoform b						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)														---	---	---	---
Unknown	0	broad.mit.edu	37	4	185536442	185536442	+	IGR	DEL	G	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:185536442delG								IRF2 (140716 upstream) : CASP3 (12410 downstream)																																			---	---	---	---
ZDHHC11	79844	broad.mit.edu	37	5	822065	822065	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:822065delA	uc011cma.1	-						ZDHHC11_uc010itc.2_Intron|ZDHHC11_uc003jbj.2_Intron	NM_024786	NP_079062			zinc finger, DHHC-type containing 11							integral to membrane	acyltransferase activity|zinc ion binding			skin(1)|pancreas(1)	2			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)															---	---	---	---
IRX1	79192	broad.mit.edu	37	5	3599265	3599266	+	Intron	DEL	TC	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:3599265_3599266delTC	uc003jde.2	+							NM_024337	NP_077313			iroquois homeobox protein 1							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2																		---	---	---	---
TRIO	7204	broad.mit.edu	37	5	14489275	14489275	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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)																	---	---	---	---
FAM105A	54491	broad.mit.edu	37	5	14607340	14607340	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:14607340delA	uc003jfj.2	+							NM_019018	NP_061891			hypothetical protein LOC54491											ovary(1)	1	Lung NSC(4;0.00592)																	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21802252	21802252	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:21802252delA	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)			---	---	---	---
LMBRD2	92255	broad.mit.edu	37	5	36114745	36114745	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:36114745delA	uc003jkb.1	-							NM_001007527	NP_001007528			LMBR1 domain containing 2							integral to membrane					0	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---
PARP8	79668	broad.mit.edu	37	5	50129700	50129701	+	Intron	DEL	TT	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:50129700_50129701delTT	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)																---	---	---	---
MOCS2	4338	broad.mit.edu	37	5	52404220	52404220	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:52404220delA	uc011cqf.1	-						MOCS2_uc003joz.2_Intron|uc003jpb.1_5'Flank	NM_176806	NP_789776			molybdopterin synthase small subunit MOCS2A						Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding				0		Lung NSC(810;3.08e-05)|Breast(144;0.0848)																---	---	---	---
EDIL3	10085	broad.mit.edu	37	5	83550040	83550040	+	Intron	DEL	A	-	-	rs55795105	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:83550040delA	uc003kio.1	-						EDIL3_uc003kip.1_Intron	NM_005711	NP_005702			EGF-like repeats and discoidin I-like						cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			skin(2)	2		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)														---	---	---	---
CHD1	1105	broad.mit.edu	37	5	98224946	98224946	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:98224946delA	uc003knf.2	-							NM_001270	NP_001261			chromodomain helicase DNA binding protein 1						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)													---	---	---	---
C5orf30	90355	broad.mit.edu	37	5	102612419	102612419	+	3'UTR	DEL	G	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:102612419delG	uc003kog.1	+	3					C5orf30_uc003koh.1_3'UTR	NM_033211	NP_149988			hypothetical protein LOC90355												0		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)														---	---	---	---
RAD50	10111	broad.mit.edu	37	5	131914905	131914905	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:131914905delT	uc003kxi.2	+						RAD50_uc003kxg.1_Intron|RAD50_uc003kxh.2_Intron	NM_005732	NP_005723			RAD50 homolog isoform 1						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					---	---	---	---
KIF3A	11127	broad.mit.edu	37	5	132035887	132035887	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:132035887delT	uc003kxo.2	-						KIF3A_uc003kxm.2_Intron|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)															---	---	---	---
KIF3A	11127	broad.mit.edu	37	5	132056409	132056409	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:132056409delA	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)															---	---	---	---
UQCRQ	27089	broad.mit.edu	37	5	132203119	132203119	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:132203119delT	uc003kya.1	+						GDF9_uc003kxz.1_5'Flank|GDF9_uc011cxj.1_5'Flank	NM_014402	NP_055217			ubiquinol-cytochrome c reductase, complex III						respiratory electron transport chain	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity				0		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)															---	---	---	---
CSNK1A1	1452	broad.mit.edu	37	5	148884875	148884875	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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)														---	---	---	---
SOX30	11063	broad.mit.edu	37	5	157053272	157053272	+	3'UTR	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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)															---	---	---	---
TSPAN17	26262	broad.mit.edu	37	5	176082911	176082912	+	Intron	DEL	AC	-	-	rs6897431	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176082911_176082912delAC	uc003met.2	+						TSPAN17_uc003mes.3_Intron|TSPAN17_uc003meu.2_Intron|TSPAN17_uc003mev.2_Intron|TSPAN17_uc003mew.2_Intron	NM_012171	NP_036303			transmembrane 4 superfamily member 17 isoform a							integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity				0	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176722543	176722543	+	3'UTR	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176722543delA	uc003mfr.3	+	23					NSD1_uc003mft.3_3'UTR|NSD1_uc011dfx.1_3'UTR	NM_022455	NP_071900			nuclear receptor binding SET domain protein 1						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)			---	---	---	---
FAM153C	653316	broad.mit.edu	37	5	177462772	177462773	+	Intron	DEL	GA	-	-	rs71585669		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:177462772_177462773delGA	uc011dge.1	+						FAM153C_uc003mig.1_Intron	NM_001079527	NP_001072995			hypothetical protein LOC653316												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)															---	---	---	---
GNB2L1	10399	broad.mit.edu	37	5	180670412	180670414	+	Intron	DEL	AGG	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180670412_180670414delAGG	uc003mni.1	-						GNB2L1_uc003mnh.1_Intron|GNB2L1_uc003mnk.1_Intron|GNB2L1_uc003mnj.1_Intron|GNB2L1_uc003mnl.1_5'Flank|GNB2L1_uc011dhk.1_Intron|GNB2L1_uc010jls.2_Intron|GNB2L1_uc011dhl.1_Intron|SNORD96A_uc010jlt.1_5'Flank|SNORD95_uc003mnn.1_5'Flank	NM_006098	NP_006089			guanine nucleotide binding protein (G protein),						apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain 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;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)														---	---	---	---
RREB1	6239	broad.mit.edu	37	6	7240518	7240519	+	Intron	DEL	TT	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7240518_7240519delTT	uc003mxc.2	+						RREB1_uc003mxb.2_Intron|RREB1_uc010jnx.2_Intron	NM_001003698	NP_001003698			ras responsive element binding protein 1 isoform						multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)																---	---	---	---
MAK	4117	broad.mit.edu	37	6	10808864	10808864	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:10808864delT	uc003mzl.2	-						SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_Intron|MAK_uc010jou.2_Intron|MAK_uc003mzm.2_Intron|MAK_uc010jov.1_Intron	NM_005906	NP_005897			male germ cell-associated kinase						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)																---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13286469	13286469	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:13286469delT	uc010jpc.2	+						PHACTR1_uc003nah.1_Intron|TBC1D7_uc003naj.2_Intron|TBC1D7_uc011dis.1_Intron|uc003nak.1_Intron	NM_030948	NP_112210			phosphatase and actin regulator 1							cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity				0	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)															---	---	---	---
HDGFL1	154150	broad.mit.edu	37	6	22570346	22570347	+	In_Frame_Ins	INS	-	GGC	GGC			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:22570346_22570347insGGC	uc003nds.2	+	1	669_670	c.542_543insGGC	c.(541-543)AGG>AGGGCG	p.188_189insA		NM_138574	NP_612641	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	188_189	Ala-rich.|Glu-rich.										0	Ovarian(93;0.163)																	---	---	---	---
BTN2A1	11120	broad.mit.edu	37	6	26465762	26465762	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26465762delA	uc003nib.1	+						BTN2A1_uc003nic.1_Intron|BTN2A1_uc003nid.1_Intron|BTN2A1_uc011dko.1_Intron|BTN2A1_uc010jqk.1_Intron	NM_007049	NP_008980			butyrophilin, subfamily 2, member A1 isoform 1						lipid metabolic process	integral to plasma membrane				ovary(1)|skin(1)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	6	30665317	30665317	+	IGR	DEL	T	-	-	rs137943555		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30665317delT								NRM (6259 upstream) : MDC1 (2268 downstream)																																			---	---	---	---
GUSBL2	375513	broad.mit.edu	37	6	58287884	58287887	+	5'Flank	DEL	TTTT	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:58287884_58287887delTTTT	uc011dxq.1	-						GUSBL2_uc011dxp.1_5'Flank|GUSBL2_uc003peb.3_5'Flank|GUSBL2_uc003pec.3_5'Flank|GUSBL2_uc003ped.3_5'Flank|GUSBL2_uc003pee.3_5'Flank					SubName: Full=Putative uncharacterized protein ENSP00000348869; Flags: Fragment;												0																		---	---	---	---
PHF3	23469	broad.mit.edu	37	6	64410483	64410483	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:64410483delT	uc003pep.1	+						PHF3_uc010kah.1_Intron|PHF3_uc003pen.2_Intron|PHF3_uc011dxs.1_Intron	NM_015153	NP_055968			PHD finger protein 3						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)															---	---	---	---
MYO6	4646	broad.mit.edu	37	6	76576840	76576840	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76576840delT	uc003pih.1	+						MYO6_uc003pig.1_Intron|MYO6_uc003pii.1_Intron	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)														---	---	---	---
PTPRK	5796	broad.mit.edu	37	6	128718505	128718505	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:128718505delT	uc003qbk.2	-						PTPRK_uc003qbj.2_Intron|PTPRK_uc010kfc.2_Intron|PTPRK_uc011ebu.1_Intron|PTPRK_uc003qbl.1_Intron|PTPRK_uc011ebv.1_Intron|PTPRK_uc003qbm.3_Intron	NM_002844	NP_002835			protein tyrosine phosphatase, receptor type, K						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)														---	---	---	---
KIAA1244	57221	broad.mit.edu	37	6	138640662	138640662	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:138640662delA	uc003qhu.2	+							NM_020340	NP_065073			brefeldin A-inhibited guanine						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)														---	---	---	---
SHPRH	257218	broad.mit.edu	37	6	146247559	146247560	+	Intron	INS	-	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:146247559_146247560insA	uc003qlf.2	-						SHPRH_uc003qld.2_Intron|SHPRH_uc003qle.2_Intron|SHPRH_uc003qlg.1_Intron|SHPRH_uc003qlh.2_Intron|SHPRH_uc003qli.1_Intron	NM_001042683	NP_001036148			SNF2 histone linker PHD RING helicase isoform a						DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)														---	---	---	---
SMOC2	64094	broad.mit.edu	37	6	168949946	168949946	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:168949946delT	uc003qws.1	+						SMOC2_uc003qwr.1_Intron	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)														---	---	---	---
Unknown	0	broad.mit.edu	37	7	22813177	22813178	+	IGR	INS	-	C	C	rs145036723	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:22813177_22813178insC								IL6 (41558 upstream) : TOMM7 (39076 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	7	35997695	35997695	+	IGR	DEL	C	-	-	rs11320725		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:35997695delC								SEPT7 (52780 upstream) : EEPD1 (195141 downstream)																																			---	---	---	---
AMPH	273	broad.mit.edu	37	7	38543104	38543105	+	Intron	INS	-	C	C	rs139707552	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:38543104_38543105insC	uc003tgu.2	-						AMPH_uc003tgv.2_Intron	NM_001635	NP_001626			amphiphysin isoform 1						endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5																		---	---	---	---
Unknown	0	broad.mit.edu	37	7	65222951	65222951	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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.																														---	---	---	---
SEMA3D	223117	broad.mit.edu	37	7	84647491	84647492	+	Intron	INS	-	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:84647491_84647492insT	uc003uic.2	-						SEMA3D_uc010led.2_Intron|SEMA3D_uc003uib.2_Intron	NM_152754	NP_689967			semaphorin 3D precursor						cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5																		---	---	---	---
SEMA3D	223117	broad.mit.edu	37	7	84669871	84669872	+	Intron	INS	-	A	A	rs78029137		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:84669871_84669872insA	uc003uic.2	-						SEMA3D_uc010led.2_Intron|SEMA3D_uc003uib.2_Intron	NM_152754	NP_689967			semaphorin 3D precursor						cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5																		---	---	---	---
DMTF1	9988	broad.mit.edu	37	7	86822456	86822456	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:86822456delT	uc003uih.2	+						DMTF1_uc003uii.2_Intron|DMTF1_uc003uij.2_Intron|DMTF1_uc011khb.1_Intron|DMTF1_uc003uik.2_Intron|DMTF1_uc003uil.2_Intron|DMTF1_uc003uin.2_Intron	NM_001142327	NP_001135799			cyclin D binding myb-like transcription factor 1						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)																	---	---	---	---
DBF4	10926	broad.mit.edu	37	7	87516630	87516630	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87516630delT	uc003ujf.1	+						DBF4_uc003ujh.1_Intron|DBF4_uc003ujg.1_Intron|DBF4_uc011khf.1_Intron	NM_006716	NP_006707			activator of S phase kinase						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)																---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91708403	91708403	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:91708403delA	uc003ulg.2	+	31	7181	c.6956delA	c.(6955-6957)GAAfs	p.E2319fs	AKAP9_uc003ulf.2_Frame_Shift_Del_p.E2311fs|AKAP9_uc003uli.2_Frame_Shift_Del_p.E1942fs|AKAP9_uc003ulj.2_Frame_Shift_Del_p.E89fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	2331	Potential.|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								---	---	---	---
COPS6	10980	broad.mit.edu	37	7	99687409	99687409	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99687409delA	uc003usu.2	+						COPS6_uc011kjf.1_Frame_Shift_Del_p.*125fs	NM_006833	NP_006824			COP9 signalosome subunit 6						cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)															---	---	---	---
Unknown	0	broad.mit.edu	37	7	101967964	101967964	+	IGR	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:101967964delA								SH2B2 (5787 upstream) : SPDYE6 (18229 downstream)																																			---	---	---	---
CFTR	1080	broad.mit.edu	37	7	117188929	117188929	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:117188929delT	uc003vjd.2	+						CFTR_uc011knq.1_Intron	NM_000492	NP_000483			cystic fibrosis transmembrane conductance						respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)									Cystic_Fibrosis				---	---	---	---
CADPS2	93664	broad.mit.edu	37	7	122131536	122131536	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122131536delT	uc010lkp.2	-						CADPS2_uc003vkg.3_Intron|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																		---	---	---	---
Unknown	0	broad.mit.edu	37	7	139888590	139888591	+	IGR	INS	-	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:139888590_139888591insT								LOC100134229 (9151 upstream) : SLC37A3 (144963 downstream)																																			---	---	---	---
BRAF	673	broad.mit.edu	37	7	140476994	140476994	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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				---	---	---	---
FAM115C	285966	broad.mit.edu	37	7	143343624	143343624	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:143343624delA	uc003wdf.2	+						FAM115C_uc003wdg.2_Intron|FAM115C_uc011ktk.1_Intron|FAM115C_uc003wdh.2_Intron|FAM115C_uc011ktm.1_Intron|uc011ktn.1_Intron|uc011kto.1_Intron|uc011ktp.1_Intron|LOC154761_uc011ktq.1_Intron|LOC154761_uc011ktr.1_Intron|LOC154761_uc011kts.1_Intron	NM_001130025	NP_001123497			hypothetical protein LOC285966 isoform A												0																		---	---	---	---
MTUS1	57509	broad.mit.edu	37	8	17510892	17510892	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17510892delT	uc003wxv.2	-						MTUS1_uc003wxt.2_Intron|MTUS1_uc011kyg.1_Intron|MTUS1_uc010lsy.2_Intron|MTUS1_uc003wxw.2_Intron|MTUS1_uc003wxs.2_Intron	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	17871605	17871608	+	Intron	DEL	AAAA	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17871605_17871608delAAAA	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								---	---	---	---
Unknown	0	broad.mit.edu	37	8	17891350	17891350	+	IGR	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17891350delA								PCM1 (3895 upstream) : ASAH1 (22575 downstream)																																			---	---	---	---
CDCA2	157313	broad.mit.edu	37	8	25344643	25344643	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:25344643delT	uc003xep.1	+						PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_Intron|CDCA2_uc003xeq.1_Intron|CDCA2_uc003xer.1_Intron	NM_152562	NP_689775			cell division cycle associated 2						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	25708397	25708397	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:25708397delA	uc003xes.1	-						PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_Intron	NM_022659	NP_073150			early B-cell factor 2						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)														---	---	---	---
PBK	55872	broad.mit.edu	37	8	27697882	27697882	+	5'Flank	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27697882delA	uc003xgi.2	-						PBK_uc011lap.1_5'Flank	NM_018492	NP_060962			PDZ binding 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)														---	---	---	---
CHRNB3	1142	broad.mit.edu	37	8	42552905	42552905	+	Intron	DEL	G	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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	48586214	48586215	+	Intron	INS	-	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48586214_48586215insC	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	48733302	48733302	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48733302delT	uc003xqi.2	-	67	9371	c.9314delA	c.(9313-9315)AATfs	p.N3105fs	PRKDC_uc003xqj.2_Frame_Shift_Del_p.N3105fs|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3105	KIP-binding.|FAT.				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					---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68208890	68208890	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68208890delT	uc003xxo.1	-							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)															---	---	---	---
Unknown	0	broad.mit.edu	37	8	89498122	89498122	+	IGR	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:89498122delA								MMP16 (158405 upstream) : None (None downstream)																																			---	---	---	---
DECR1	1666	broad.mit.edu	37	8	91056917	91056917	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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)															---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103289513	103289513	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:103289513delT	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)															---	---	---	---
DCAF13	25879	broad.mit.edu	37	8	104439487	104439487	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:104439487delT	uc003yln.2	+						DCAF13_uc003ylm.1_Intron|DCAF13_uc003ylo.2_Intron	NM_015420	NP_056235			WD repeats and SOF1 domain containing						rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1																		---	---	---	---
EBAG9	9166	broad.mit.edu	37	8	110567215	110567215	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110567215delT	uc003ynf.2	+						EBAG9_uc010mcn.1_Intron|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)															---	---	---	---
NDRG1	10397	broad.mit.edu	37	8	134262922	134262922	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:134262922delA	uc003yuh.2	-						NDRG1_uc003yuf.1_Intron|NDRG1_uc003yug.2_Intron|NDRG1_uc010mee.2_Intron|NDRG1_uc010mef.2_Intron|NDRG1_uc011ljh.1_Intron|NDRG1_uc011lji.1_Intron	NM_001135242	NP_001128714			N-myc downstream regulated 1						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)															---	---	---	---
PDCD1LG2	80380	broad.mit.edu	37	9	5522742	5522743	+	Intron	DEL	AA	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:5522742_5522743delAA	uc003zjg.3	+						C9orf46_uc003zjd.2_Intron|PDCD1LG2_uc011lmc.1_Intron|PDCD1LG2_uc011lmd.1_Intron|PDCD1LG2_uc010mhp.1_Intron|PDCD1LG2_uc010mho.1_Intron	NM_025239	NP_079515			programmed cell death 1 ligand 2 precursor						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)														---	---	---	---
CA9	768	broad.mit.edu	37	9	35677613	35677613	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35677613delA	uc003zxo.3	+						C9orf100_uc003zxl.2_5'Flank|CA9_uc003zxp.3_Intron	NM_001216	NP_001207			carbonic anhydrase IX precursor						one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			ovary(4)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79890720	79890720	+	Intron	DEL	C	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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																		---	---	---	---
SECISBP2	79048	broad.mit.edu	37	9	91954659	91954659	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:91954659delT	uc004aqj.1	+						SECISBP2_uc011ltk.1_Intron|SECISBP2_uc004aqk.1_Intron|SECISBP2_uc010mqo.1_Intron|SECISBP2_uc011ltl.1_Intron	NM_024077	NP_076982			SECIS binding protein 2						translation	nucleus	mRNA 3'-UTR binding			ovary(2)|skin(1)	3																		---	---	---	---
NOL8	55035	broad.mit.edu	37	9	95085870	95085870	+	Intron	DEL	A	-	-	rs75489638		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95085870delA	uc004arv.2	-						CENPP_uc004arz.2_5'Flank|CENPP_uc010mqx.2_5'Flank|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Intron|NOL8_uc004arx.2_Intron|CENPP_uc004ary.1_5'Flank	NM_017948	NP_060418			nucleolar protein 8						DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1																		---	---	---	---
PHF2	5253	broad.mit.edu	37	9	96422612	96422612	+	Frame_Shift_Del	DEL	A	-	-	rs76832193		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:96422612delA	uc004aub.2	+	12	1615	c.1468delA	c.(1468-1470)AAAfs	p.K490fs	PHF2_uc011lug.1_Frame_Shift_Del_p.K373fs|PHF2_uc004auc.2_5'Flank	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	490	Pro-rich.|Lys-rich.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 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		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)														---	---	---	---
Unknown	0	broad.mit.edu	37	9	98910246	98910246	+	IGR	DEL	A	-	-	rs139074595		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:98910246delA								NCRNA00092 (126209 upstream) : HSD17B3 (87343 downstream)																																			---	---	---	---
C9orf98	158067	broad.mit.edu	37	9	135690206	135690206	+	Intron	DEL	A	-	-	rs140406073		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135690206delA	uc004cbu.1	-						C9orf98_uc010mzx.1_Intron|C9orf98_uc004cbv.1_Intron	NM_152572	NP_689785			putative adenylate kinase-like protein C9orf98							cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity				0				OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016)														---	---	---	---
CUL2	8453	broad.mit.edu	37	10	35320659	35320659	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:35320659delT	uc001ixv.2	-						CUL2_uc009xma.2_Intron|CUL2_uc010qer.1_Intron|CUL2_uc001ixw.2_Intron|CUL2_uc010qes.1_Intron	NM_003591	NP_003582			cullin 2						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																		---	---	---	---
FRMPD2	143162	broad.mit.edu	37	10	49400634	49400634	+	Intron	DEL	A	-	-	rs74923642		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:49400634delA	uc001jgi.2	-						FRMPD2_uc001jgh.2_Intron|FRMPD2_uc001jgj.2_Intron	NM_001018071	NP_001018081			FERM and PDZ domain containing 2 isoform 3						tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)														---	---	---	---
RTKN2	219790	broad.mit.edu	37	10	64022583	64022583	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:64022583delA	uc001jlw.2	-						ZNF365_uc001jly.3_Intron|RTKN2_uc001jlx.2_Intron	NM_145307	NP_660350			rhotekin 2						signal transduction	intracellular					0	Prostate(12;0.0297)|all_hematologic(501;0.215)																	---	---	---	---
ASCC1	51008	broad.mit.edu	37	10	73887716	73887716	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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																		---	---	---	---
VDAC2	7417	broad.mit.edu	37	10	76990826	76990826	+	3'UTR	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:76990826delT	uc001jwz.2	+	10					VDAC2_uc010qld.1_3'UTR|VDAC2_uc001jxa.2_3'UTR|VDAC2_uc010qle.1_3'UTR	NM_003375	NP_003366			voltage-dependent anion channel 2							mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)											OREG0020276	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
TCTN3	26123	broad.mit.edu	37	10	97442251	97442251	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:97442251delA	uc001klb.3	-						TCTN3_uc001kla.3_Intron|TCTN3_uc010qoi.1_Intron	NM_015631	NP_056446			tectonic 3 isoform a precursor						apoptosis	integral to membrane					0		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)														---	---	---	---
NOLC1	9221	broad.mit.edu	37	10	103920996	103920997	+	Intron	DEL	TT	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103920996_103920997delTT	uc001kuo.2	+						NOLC1_uc001kup.2_Intron|NOLC1_uc001kuq.2_Intron|NOLC1_uc009xxb.1_Intron|NOLC1_uc001kur.2_Intron	NM_004741	NP_004732			nucleolar and coiled-body phosphoprotein 1						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)														---	---	---	---
FAM45A	404636	broad.mit.edu	37	10	120879786	120879786	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:120879786delA	uc001ldw.2	+						FAM45A_uc010qsv.1_Intron|FAM45A_uc010qsw.1_Intron|FAM45A_uc010qsx.1_Intron|FAM45A_uc010qsy.1_Intron|FAM45A_uc010qsz.1_Intron	NM_207009	NP_996892			hypothetical protein LOC404636											ovary(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)														---	---	---	---
DRD4	1815	broad.mit.edu	37	11	639373	639374	+	Intron	DEL	GC	-	-	rs28540443		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:639373_639374delGC	uc001lqp.1	+							NM_000797	NP_000788			dopamine receptor D4						activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior	integral to plasma membrane	dopamine D4 receptor activity|drug binding|potassium channel regulator activity|SH3 domain binding				0		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246)													---	---	---	---
NUP98	4928	broad.mit.edu	37	11	3713388	3713388	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:3713388delA	uc001lyh.2	-						NUP98_uc001lyi.2_Intron|NUP98_uc001lyg.2_Intron	NM_016320	NP_057404			nucleoporin 98kD isoform 1						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								---	---	---	---
STIM1	6786	broad.mit.edu	37	11	3944023	3944023	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:3944023delA	uc001lyv.2	+						STIM1_uc009yef.2_Intron	NM_003156	NP_003147			stromal interaction molecule 1 precursor						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)														---	---	---	---
FAM160A2	84067	broad.mit.edu	37	11	6238994	6238994	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6238994delC	uc001mcl.3	-	9	2181	c.1822delG	c.(1822-1824)GAAfs	p.E608fs	FAM160A2_uc001mck.3_Frame_Shift_Del_p.E622fs|FAM160A2_uc001mcm.2_Frame_Shift_Del_p.E608fs	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 2	608					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2																		---	---	---	---
ANO5	203859	broad.mit.edu	37	11	22233000	22233000	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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																		---	---	---	---
WT1	7490	broad.mit.edu	37	11	32450245	32450245	+	Intron	DEL	G	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:32450245delG	uc001mtn.1	-						WT1_uc001mtl.1_Intron|WT1_uc001mtm.1_Intron|WT1_uc001mto.1_Intron|WT1_uc001mtp.1_Intron|WT1_uc001mtq.1_Intron|WT1_uc009yjs.1_Intron	NM_024426	NP_077744			Wilms tumor 1 isoform D						adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(231)	haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)					D|Mis|N|F|S	EWSR1	Wilms|desmoplastic small round cell tumor	Wilms			Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				---	---	---	---
Unknown	0	broad.mit.edu	37	11	43283606	43283606	+	RNA	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:43283606delA	uc001mxe.1	-	2		c.1330delT								Homo sapiens cDNA FLJ44864 fis, clone BRALZ2013621, moderately similar to Heterogeneous nuclear ribonucleoprotein K.																														---	---	---	---
AMBRA1	55626	broad.mit.edu	37	11	46450142	46450142	+	Intron	DEL	C	-	-	rs2864834	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:46450142delC	uc010rgu.1	-						AMBRA1_uc010rgt.1_Intron|AMBRA1_uc009ylc.1_Intron|AMBRA1_uc001ncu.1_Intron|AMBRA1_uc001ncv.2_Intron|AMBRA1_uc001ncw.2_Intron|AMBRA1_uc001ncx.2_Intron	NM_017749	NP_060219			activating molecule in beclin-1-regulated						autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)														---	---	---	---
Unknown	0	broad.mit.edu	37	11	59066132	59066133	+	IGR	INS	-	GATG	GATG			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:59066132_59066133insGATG								MPEG1 (85638 upstream) : OR5AN1 (65799 downstream)																																			---	---	---	---
SYT7	9066	broad.mit.edu	37	11	61323501	61323502	+	Intron	DEL	TG	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61323501_61323502delTG	uc001nrv.2	-						SYT7_uc009ynr.2_Intron|SYT7_uc001nrx.1_Intron	NM_004200	NP_004191			synaptotagmin VII							cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(3)|pancreas(1)	4																		---	---	---	---
ATL3	25923	broad.mit.edu	37	11	63399600	63399601	+	Intron	INS	-	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:63399600_63399601insT	uc001nxk.1	-						ATL3_uc010rms.1_Intron|ATL3_uc010rmr.1_Intron	NM_015459	NP_056274			atlastin 3						endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			pancreas(1)	1																		---	---	---	---
PACS1	55690	broad.mit.edu	37	11	65977671	65977671	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65977671delT	uc001oha.1	+						PACS1_uc001ogz.1_Intron	NM_018026	NP_060496			phosphofurin acidic cluster sorting protein 1						interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding			ovary(6)	6																		---	---	---	---
RNF169	254225	broad.mit.edu	37	11	74457267	74457267	+	5'Flank	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74457267delT	uc001ovl.3	+							NM_001098638	NP_001092108			ring finger protein 169								zinc ion binding			ovary(1)	1																		---	---	---	---
PCF11	51585	broad.mit.edu	37	11	82894176	82894176	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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																		---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	103029328	103029328	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:103029328delA	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)														---	---	---	---
NCAPD2	9918	broad.mit.edu	37	12	6640670	6640670	+	3'UTR	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6640670delT	uc001qoo.2	+	32					NCAPD2_uc010sfd.1_3'UTR|GAPDH_uc001qop.1_5'Flank|GAPDH_uc009zep.1_5'Flank|GAPDH_uc001qoq.1_5'Flank|GAPDH_uc001qor.1_5'Flank	NM_014865	NP_055680			non-SMC condensin I complex, subunit D2						cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5																		---	---	---	---
Unknown	0	broad.mit.edu	37	12	9122131	9122131	+	IGR	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9122131delA								M6PR (19879 upstream) : KLRG1 (20090 downstream)																																			---	---	---	---
SLC2A13	114134	broad.mit.edu	37	12	40247410	40247410	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:40247410delT	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)			---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46240571	46240571	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46240571delA	uc001ros.1	+						ARID2_uc001ror.2_Intron|ARID2_uc009zkg.1_Intron|ARID2_uc009zkh.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)														---	---	---	---
LARP4	113251	broad.mit.edu	37	12	50824444	50824444	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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																		---	---	---	---
KRT79	338785	broad.mit.edu	37	12	53223675	53223675	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53223675delA	uc001sbb.2	-						KRT79_uc001sba.2_Intron	NM_175834	NP_787028			keratin 6L							keratin filament	structural molecule activity			ovary(2)|skin(2)	4																		---	---	---	---
BAZ2A	11176	broad.mit.edu	37	12	57006060	57006061	+	Intron	DEL	AA	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57006060_57006061delAA	uc001slq.1	-						BAZ2A_uc001slp.1_Intron|BAZ2A_uc009zow.1_Intron	NM_013449	NP_038477			bromodomain adjacent to zinc finger domain, 2A						chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding				0																		---	---	---	---
Unknown	0	broad.mit.edu	37	12	80632597	80632598	+	IGR	DEL	TG	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:80632597_80632598delTG								PPP1R12A (303362 upstream) : PTPRQ (205528 downstream)																																			---	---	---	---
RASSF9	9182	broad.mit.edu	37	12	86199850	86199851	+	Intron	INS	-	T	T	rs149030946	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:86199850_86199851insT	uc001taf.1	-							NM_005447	NP_005438			Ras association (RalGDS/AF-6) domain family						endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			ovary(1)	1																		---	---	---	---
CCDC41	51134	broad.mit.edu	37	12	94703662	94703662	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:94703662delT	uc001tdd.2	-						CCDC41_uc001tde.2_Intron	NM_016122	NP_057206			NY-REN-58 antigen												0																		---	---	---	---
UHRF1BP1L	23074	broad.mit.edu	37	12	100480150	100480151	+	Intron	DEL	AG	-	-	rs57522109		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:100480150_100480151delAG	uc001tgq.2	-						UHRF1BP1L_uc001tgr.2_Intron|UHRF1BP1L_uc001tgp.2_Intron	NM_015054	NP_055869			UHRF1 (ICBP90) binding protein 1-like isoform a											ovary(2)	2																		---	---	---	---
GNPTAB	79158	broad.mit.edu	37	12	102147062	102147062	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:102147062delA	uc001tit.2	-							NM_024312	NP_077288			N-acetylglucosamine-1-phosphate transferase						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																		---	---	---	---
CRY1	1407	broad.mit.edu	37	12	107393674	107393674	+	Intron	DEL	T	-	-	rs34460737		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:107393674delT	uc001tmi.3	-							NM_004075	NP_004066			cryptochrome 1 (photolyase-like)						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																		---	---	---	---
MYO1H	283446	broad.mit.edu	37	12	109845512	109845512	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109845512delT	uc010sxn.1	+							NM_001101421	NP_001094891			myosin 1H							myosin complex	motor activity				0																		---	---	---	---
ATP2A2	488	broad.mit.edu	37	12	110784416	110784416	+	3'UTR	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:110784416delT	uc001tqk.3	+	20					ATP2A2_uc001tql.3_Intron|ATP2A2_uc010sxy.1_3'UTR|ATP2A2_uc001tqn.3_3'UTR|ATP2A2_uc009zvn.2_Intron	NM_170665	NP_733765			ATPase, Ca++ transporting, slow twitch 2 isoform						ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			ovary(3)|skin(1)	4																		---	---	---	---
KSR2	283455	broad.mit.edu	37	12	117965106	117965107	+	Intron	DEL	AG	-	-	rs68177299		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:117965106_117965107delAG	uc001two.2	-							NM_173598	NP_775869			kinase suppressor of ras 2						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)																	---	---	---	---
Unknown	0	broad.mit.edu	37	12	120706717	120706717	+	IGR	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120706717delA								PXN (3154 upstream) : NME2P1 (13223 downstream)																																			---	---	---	---
KNTC1	9735	broad.mit.edu	37	12	123073397	123073397	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123073397delT	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)														---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124821593	124821593	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124821593delG	uc010tay.1	-	40	6007	c.5851delC	c.(5851-5853)CGGfs	p.R1951fs	NCOR2_uc010taz.1_Frame_Shift_Del_p.R1935fs|NCOR2_uc010tax.1_Frame_Shift_Del_p.R62fs	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 1	1952					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)														---	---	---	---
FRY	10129	broad.mit.edu	37	13	32836660	32836660	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32836660delA	uc001utx.2	+						FRY_uc010tdw.1_Intron|FRY_uc001uty.2_Intron|FRY_uc001utz.2_Intron|FRY_uc010tdx.1_5'Flank	NM_023037	NP_075463			furry homolog						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)														---	---	---	---
KIAA0564	23078	broad.mit.edu	37	13	42249231	42249231	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:42249231delA	uc001uyj.2	-							NM_015058	NP_055873			hypothetical protein LOC23078 isoform a							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)														---	---	---	---
FNDC3A	22862	broad.mit.edu	37	13	49761480	49761480	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:49761480delT	uc001vcm.2	+						FNDC3A_uc001vcn.2_Intron|FNDC3A_uc001vco.2_Intron|FNDC3A_uc001vcp.1_Intron|FNDC3A_uc001vcq.2_Intron	NM_001079673	NP_001073141			fibronectin type III domain containing 3A							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)														---	---	---	---
SETDB2	83852	broad.mit.edu	37	13	50057583	50057583	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:50057583delT	uc001vcz.2	+						SETDB2_uc001vcy.3_Intron|SETDB2_uc010adh.2_Intron|SETDB2_uc001vda.2_Intron	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)														---	---	---	---
RNASEH2B	79621	broad.mit.edu	37	13	51527972	51527972	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:51527972delT	uc001vfa.3	+						RNASEH2B_uc001vfb.3_Intron	NM_024570	NP_078846			ribonuclease H2, subunit B isoform 1						RNA catabolic process	nucleus|ribonuclease H2 complex					0		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)														---	---	---	---
MYO16	23026	broad.mit.edu	37	13	109700758	109700758	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:109700758delT	uc001vqt.1	+						MYO16_uc010agk.1_Intron|MYO16_uc001vqu.1_Intron|MYO16_uc010tjh.1_Intron	NM_015011	NP_055826			myosin heavy chain Myr 8						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)															---	---	---	---
RABGGTA	5875	broad.mit.edu	37	14	24739363	24739364	+	Intron	INS	-	G	G	rs145834132	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24739363_24739364insG	uc001wof.2	-						RABGGTA_uc001woe.2_5'Flank|RABGGTA_uc001wog.2_Intron|RABGGTA_uc001woh.2_Intron|RABGGTA_uc001woi.2_Intron	NM_004581	NP_004572			Rab geranylgeranyltransferase alpha						visual perception		Rab geranylgeranyltransferase activity|zinc ion binding				0				GBM - Glioblastoma multiforme(265;0.0184)														---	---	---	---
SIP1	8487	broad.mit.edu	37	14	39597689	39597690	+	Intron	INS	-	T	T	rs149334273		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:39597689_39597690insT	uc001wuq.2	+						SIP1_uc001wur.2_Intron|SIP1_uc001wus.2_Intron|SIP1_uc010amx.2_Intron	NM_003616	NP_003607			SMN-interacting protein 1 isoform alpha						ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding				0	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0121)														---	---	---	---
CTAGE5	4253	broad.mit.edu	37	14	39771685	39771685	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:39771685delT	uc001wvg.3	+						CTAGE5_uc010tqe.1_Intron|CTAGE5_uc001wuz.3_Intron|CTAGE5_uc001wuy.3_Intron|CTAGE5_uc001wvb.3_Intron|CTAGE5_uc001wvc.3_Intron|CTAGE5_uc001wva.3_Intron|CTAGE5_uc001wve.1_Intron|CTAGE5_uc001wvh.3_Intron|CTAGE5_uc001wvf.3_Intron|CTAGE5_uc001wvi.3_Intron|CTAGE5_uc010amz.2_Intron|CTAGE5_uc001wvj.3_Intron	NM_005930	NP_005921			CTAGE family, member 5 isoform 1								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)														---	---	---	---
CDKL1	8814	broad.mit.edu	37	14	50802640	50802640	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:50802640delA	uc001wxz.2	-							NM_004196	NP_004187			cyclin-dependent kinase-like 1							cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			ovary(1)|stomach(1)	2	all_epithelial(31;0.000746)|Breast(41;0.0102)																	---	---	---	---
CDKN3	1033	broad.mit.edu	37	14	54886619	54886619	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:54886619delT	uc001xap.2	+						CDKN3_uc001xar.2_Intron|CDKN3_uc001xaq.2_Intron|CDKN3_uc001xas.1_Intron|CDKN3_uc010aoj.1_Intron	NM_005192	NP_005183			cyclin-dependent kinase inhibitor 3 isoform 1						cell cycle arrest|G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	perinuclear region of cytoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0																		---	---	---	---
GMFB	2764	broad.mit.edu	37	14	54944919	54944919	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:54944919delA	uc010tqz.1	-						GMFB_uc001xaw.1_Intron	NM_004124	NP_004115			glia maturation factor, beta						nervous system development|protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity|signal transducer activity				0																		---	---	---	---
SIX1	6495	broad.mit.edu	37	14	61113356	61113356	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:61113356delA	uc001xfb.3	-							NM_005982	NP_005973			SIX homeobox 1						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)														---	---	---	---
SFRS5	6430	broad.mit.edu	37	14	70237110	70237110	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:70237110delT	uc001xll.2	+						SFRS5_uc001xlm.2_RNA|SFRS5_uc001xln.1_3'UTR|SFRS5_uc001xlo.2_Intron|SFRS5_uc001xlp.2_Intron|SFRS5_uc001xlq.2_Intron	NM_006925	NP_008856			splicing factor, arginine/serine-rich 5						mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding				0				all cancers(60;0.00144)|BRCA - Breast invasive adenocarcinoma(234;0.0132)|OV - Ovarian serous cystadenocarcinoma(108;0.0154)														---	---	---	---
TTLL5	23093	broad.mit.edu	37	14	76200513	76200513	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:76200513delA	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)														---	---	---	---
TMED8	283578	broad.mit.edu	37	14	77826060	77826064	+	Intron	DEL	AAAGA	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:77826060_77826064delAAAGA	uc001xto.1	-						TMED8_uc010ast.1_Intron	NM_213601	NP_998766			transmembrane emp24 protein transport domain						transport	integral to membrane					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)														---	---	---	---
LGMN	5641	broad.mit.edu	37	14	93185035	93185036	+	Intron	INS	-	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93185035_93185036insT	uc001yav.2	-						LGMN_uc001yat.2_Intron|LGMN_uc001yau.2_Intron|LGMN_uc001yaw.2_Intron|LGMN_uc010aul.2_Intron|LGMN_uc001yax.2_Intron|LGMN_uc001yay.2_Intron	NM_001008530	NP_001008530			legumain preproprotein						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)														---	---	---	---
DICER1	23405	broad.mit.edu	37	14	95582234	95582235	+	Intron	INS	-	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:95582234_95582235insA	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_				---	---	---	---
CCNK	8812	broad.mit.edu	37	14	99968522	99968522	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:99968522delT	uc001ygi.3	+						CCNK_uc001ygg.3_Intron	NM_001099402	NP_001092872			cyclin K isoform 1						cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding				0		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)																---	---	---	---
TUBGCP5	114791	broad.mit.edu	37	15	22862068	22862069	+	Intron	DEL	TT	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:22862068_22862069delTT	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)														---	---	---	---
TRPM1	4308	broad.mit.edu	37	15	31359898	31359898	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:31359898delT	uc001zfm.2	-						TRPM1_uc010azy.2_Intron|TRPM1_uc001zfl.2_Intron|uc010ubm.1_5'Flank|MIR211_hsa-mir-211|MI0000287_5'Flank|uc010ubn.1_5'Flank	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)														---	---	---	---
SPINT1	6692	broad.mit.edu	37	15	41145073	41145075	+	Intron	DEL	AAA	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41145073_41145075delAAA	uc001zna.2	+						SPINT1_uc001znb.2_Intron|SPINT1_uc001znc.2_Intron|SPINT1_uc010ucs.1_Intron	NM_181642	NP_857593			serine peptidase inhibitor, Kunitz type 1							extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		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;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)														---	---	---	---
MAP1A	4130	broad.mit.edu	37	15	43814941	43814941	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43814941delA	uc001zrt.2	+	4	1737	c.1270delA	c.(1270-1272)AAAfs	p.K424fs		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	424	Lys-rich (basic).|9 X 3 AA repeats of K-K-[DE].			K -> P (in Ref. 1; AAB41132/AAB41133).		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)													---	---	---	---
CCPG1	9236	broad.mit.edu	37	15	55726958	55726958	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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)														---	---	---	---
NEDD4	4734	broad.mit.edu	37	15	56144502	56144503	+	Intron	DEL	AA	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:56144502_56144503delAA	uc002adj.2	-						NEDD4_uc002adl.2_Intron|NEDD4_uc002adi.2_Intron|NEDD4_uc010ugj.1_Intron|NEDD4_uc010bfm.2_Intron|NEDD4_uc002adk.2_Intron	NM_198400	NP_006145			neural precursor cell expressed, developmentally						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)														---	---	---	---
Unknown	0	broad.mit.edu	37	15	62560823	62560823	+	IGR	DEL	A	-	-	rs34953481		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62560823delA								C2CD4B (103341 upstream) : MGC15885 (368548 downstream)																																			---	---	---	---
TRIP4	9325	broad.mit.edu	37	15	64687574	64687574	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64687574delT	uc002anm.2	+							NM_016213	NP_057297			thyroid hormone receptor interactor 4						positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			ovary(1)|kidney(1)|skin(1)	3																		---	---	---	---
Unknown	0	broad.mit.edu	37	15	79155533	79155534	+	IGR	DEL	TT	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:79155533_79155534delTT								ADAMTS7 (51760 upstream) : MORF4L1 (9638 downstream)																																			---	---	---	---
CLUAP1	23059	broad.mit.edu	37	16	3556518	3556518	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3556518delT	uc002cvk.1	+						CLUAP1_uc002cvj.1_Intron|CLUAP1_uc002cvl.1_Intron	NM_015041	NP_055856			clusterin associated protein 1 isoform 1							nucleus	protein binding			ovary(1)|breast(1)|pancreas(1)	3																		---	---	---	---
PARN	5073	broad.mit.edu	37	16	14721881	14721881	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:14721881delA	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																		---	---	---	---
BFAR	51283	broad.mit.edu	37	16	14742222	14742222	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:14742222delT	uc002dco.2	+						BFAR_uc002dcm.2_Intron|BFAR_uc002dcn.2_Intron|BFAR_uc002dcp.2_Intron|BFAR_uc010uzh.1_Intron	NM_016561	NP_057645			bifunctional apoptosis regulator						anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---
ARL6IP1	23204	broad.mit.edu	37	16	18810349	18810349	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:18810349delT	uc002dfl.1	-						ARL6IP1_uc010van.1_Intron|ARL6IP1_uc010bvz.1_Intron	NM_015161	NP_055976			ADP-ribosylation factor-like 6 interacting							integral to membrane	protein binding				0																		---	---	---	---
GP2	2813	broad.mit.edu	37	16	20335635	20335635	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20335635delT	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																		---	---	---	---
Unknown	0	broad.mit.edu	37	16	32176904	32176904	+	IGR	DEL	G	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:32176904delG								HERC2P4 (13030 upstream) : TP53TG3B (507937 downstream)																																			---	---	---	---
SNX20	124460	broad.mit.edu	37	16	50707236	50707236	+	3'UTR	DEL	A	-	-	rs75121949	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									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																		---	---	---	---
AARS	16	broad.mit.edu	37	16	70306036	70306037	+	Intron	DEL	AA	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70306036_70306037delAA	uc002eyn.1	-						AARS_uc010vlu.1_5'Flank	NM_001605	NP_001596			alanyl-tRNA synthetase						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)													---	---	---	---
LRRC50	123872	broad.mit.edu	37	16	84188523	84188523	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84188523delT	uc002fhl.3	+						LRRC50_uc010chi.1_Intron	NM_178452	NP_848547			leucine rich repeat containing 50						axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding				0														Kartagener_syndrome				---	---	---	---
VPS53	55275	broad.mit.edu	37	17	602754	602754	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:602754delA	uc002frn.2	-						VPS53_uc010cjo.1_Intron|VPS53_uc002frl.2_Intron|VPS53_uc002frm.2_Intron|VPS53_uc002fro.2_Intron|VPS53_uc010cjp.1_Intron	NM_018289	NP_060759			vacuolar protein sorting 53 isoform 2						protein transport	endosome membrane|Golgi apparatus					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)														---	---	---	---
RAP1GAP2	23108	broad.mit.edu	37	17	2703722	2703743	+	Intron	DEL	GGCTGTCCCGGGGACTCCTCCA	-	-	rs72122107		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:2703722_2703743delGGCTGTCCCGGGGACTCCTCCA	uc010ckd.2	+						RAP1GAP2_uc010cke.2_Intron	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																		---	---	---	---
MIS12	79003	broad.mit.edu	37	17	5392101	5392101	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5392101delT	uc002gcd.2	+						DERL2_uc002gcc.1_5'Flank|MIS12_uc002gce.2_Intron	NM_024039	NP_076944			MIS12 homolog						cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding				0																		---	---	---	---
Unknown	0	broad.mit.edu	37	17	21549760	21549760	+	IGR	DEL	G	-	-	rs112169839		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:21549760delG								C17orf51 (72029 upstream) : FAM27L (275610 downstream)																																			---	---	---	---
EFCAB5	374786	broad.mit.edu	37	17	28295793	28295793	+	Intron	DEL	T	-	-	rs141990566	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:28295793delT	uc002het.2	+						EFCAB5_uc010wbi.1_Intron|EFCAB5_uc010wbj.1_Intron|EFCAB5_uc010wbk.1_Intron|EFCAB5_uc010csd.2_Intron|EFCAB5_uc010cse.2_5'Flank|EFCAB5_uc010csf.2_5'Flank	NM_198529	NP_940931			EF-hand calcium binding domain 5 isoform a								calcium ion binding			ovary(1)|skin(1)	2																		---	---	---	---
TAF15	8148	broad.mit.edu	37	17	34165342	34165342	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:34165342delA	uc002hkd.2	+						TAF15_uc010ctw.1_Intron|TAF15_uc002hkc.2_Intron	NM_139215	NP_631961			TBP-associated factor 15 isoform 1						positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	bone(33)|lung(1)|skin(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)				T	TEC|CHN1|ZNF384	extraskeletal myxoid chondrosarcomas|ALL								---	---	---	---
DBF4B	80174	broad.mit.edu	37	17	42818501	42818501	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42818501delA	uc002ihf.2	+						DBF4B_uc010wjb.1_Intron|DBF4B_uc002ihe.2_Intron|DBF4B_uc010wjc.1_Intron	NM_145663	NP_663696			DBF4 homolog B isoform 1						cell cycle	nucleus	nucleic acid binding|zinc ion binding				0		Prostate(33;0.0322)																---	---	---	---
Unknown	0	broad.mit.edu	37	17	43675963	43675963	+	IGR	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:43675963delA								LRRC37A4 (80447 upstream) : LOC644172 (1528 downstream)																																			---	---	---	---
CACNA1G	8913	broad.mit.edu	37	17	48639187	48639188	+	Intron	DEL	GG	-	-	rs112792872		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48639187_48639188delGG	uc002irk.1	+						uc002irh.2_Intron|CACNA1G_uc002iri.1_Intron|CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Intron|CACNA1G_uc002irm.1_Intron|CACNA1G_uc002irn.1_Intron|CACNA1G_uc002iro.1_Intron|CACNA1G_uc002irp.1_Intron|CACNA1G_uc002irq.1_Intron|CACNA1G_uc002irr.1_Intron|CACNA1G_uc002irs.1_Intron|CACNA1G_uc002irt.1_Intron|CACNA1G_uc002irv.1_Intron|CACNA1G_uc002irw.1_Intron|CACNA1G_uc002iru.1_Intron	NM_018896	NP_061496			voltage-dependent calcium channel alpha 1G						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)													---	---	---	---
CA10	56934	broad.mit.edu	37	17	50212438	50212438	+	Intron	DEL	C	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:50212438delC	uc002itw.3	-						CA10_uc002itv.3_Intron|CA10_uc002itx.3_Intron|CA10_uc002ity.3_Intron|CA10_uc002itz.2_Intron	NM_020178	NP_064563			carbonic anhydrase X						brain development					ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)															---	---	---	---
Unknown	0	broad.mit.edu	37	17	51431398	51431407	+	IGR	DEL	CAACCCTTCT	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:51431398_51431407delCAACCCTTCT								None (None upstream) : KIF2B (468832 downstream)																																			---	---	---	---
TEX14	56155	broad.mit.edu	37	17	56690561	56690561	+	Intron	DEL	A	-	-	rs77849538		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56690561delA	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)																	---	---	---	---
SMURF2	64750	broad.mit.edu	37	17	62541848	62541855	+	3'UTR	DEL	AAAAGGGG	-	-	rs59188589		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62541848_62541855delAAAAGGGG	uc002jep.1	-	19					SMURF2_uc002jeq.1_3'UTR|SMURF2_uc002jer.1_3'UTR	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)															---	---	---	---
SDK2	54549	broad.mit.edu	37	17	71398046	71398047	+	Intron	INS	-	G	G	rs111577935		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:71398046_71398047insG	uc010dfm.2	-						SDK2_uc002jjt.3_Intron|SDK2_uc010dfn.2_Intron	NM_001144952	NP_001138424			sidekick 2						cell adhesion	integral to membrane				ovary(2)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	18	12303771	12303771	+	IGR	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:12303771delA								CIDEA (26179 upstream) : TUBB6 (4469 downstream)																																			---	---	---	---
C18orf10	25941	broad.mit.edu	37	18	34378660	34378660	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:34378660delA	uc002kzw.1	-						C18orf10_uc002kzv.1_Intron|C18orf10_uc010xci.1_Intron|C18orf10_uc002kzx.1_Intron|C18orf10_uc002kzy.3_Intron	NM_015476	NP_056291			tubulin polyglutamylase complex subunit 2							cytoplasm|microtubule				skin(1)	1																		---	---	---	---
TXNL1	9352	broad.mit.edu	37	18	54278334	54278334	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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)														---	---	---	---
SHC2	25759	broad.mit.edu	37	19	438806	438806	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:438806delC	uc002loq.3	-	4	632	c.632delG	c.(631-633)GGCfs	p.G211fs	SHC2_uc002lop.3_5'UTR	NM_012435	NP_036567	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing)	211	PID.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol					0		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)														---	---	---	---
GRIN3B	116444	broad.mit.edu	37	19	1004499	1004499	+	Intron	DEL	C	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1004499delC	uc002lqo.1	+							NM_138690	NP_619635			glutamate receptor, ionotropic,						ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity				0		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)													---	---	---	---
ABCA7	10347	broad.mit.edu	37	19	1046580	1046580	+	Intron	DEL	G	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1046580delG	uc002lqw.3	+						ABCA7_uc010dsb.1_Intron	NM_019112	NP_061985			ATP-binding cassette, sub-family A, member 7						phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		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)														---	---	---	---
CCDC94	55702	broad.mit.edu	37	19	4261827	4261829	+	Intron	DEL	AAA	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4261827_4261829delAAA	uc002lzv.3	+							NM_018074	NP_060544			coiled-coil domain containing 94												0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)														---	---	---	---
TMEM146	257062	broad.mit.edu	37	19	5733772	5733772	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5733772delT	uc002mda.2	+						TMEM146_uc010duj.1_Intron	NM_152784	NP_689997			transmembrane protein 146 precursor							integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---
GPR108	56927	broad.mit.edu	37	19	6735981	6735981	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6735981delA	uc002mfp.2	-						GPR108_uc002mfn.2_Intron|GPR108_uc002mfo.3_Intron|GPR108_uc010duw.2_Intron	NM_001080452	NP_001073921			G protein-coupled receptor 108 isoform 1							integral to membrane					0																OREG0025202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
FBXL12	54850	broad.mit.edu	37	19	9931194	9931194	+	5'Flank	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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																		---	---	---	---
FDX1L	112812	broad.mit.edu	37	19	10425996	10426004	+	Intron	DEL	TTTTTTTTT	-	-	rs5827098		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10425996_10426004delTTTTTTTTT	uc002mny.1	-						FDX1L_uc002mnx.1_Intron	NM_001031734	NP_001026904			ferredoxin 1-like precursor						electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)															---	---	---	---
AP1M2	10053	broad.mit.edu	37	19	10688097	10688097	+	Intron	DEL	C	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10688097delC	uc002mpc.2	-						AP1M2_uc002mpd.2_Intron	NM_005498	NP_005489			adaptor-related protein complex 1, mu 2 subunit						cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			ovary(2)	2			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)															---	---	---	---
Unknown	0	broad.mit.edu	37	19	12757294	12757294	+	IGR	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12757294delA								ZNF791 (16618 upstream) : MAN2B1 (28 downstream)																																			---	---	---	---
UNC13A	23025	broad.mit.edu	37	19	17722795	17722795	+	Intron	DEL	G	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17722795delG	uc002nhd.2	-							NM_001080421	NP_001073890			unc-13 homolog A						exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3																		---	---	---	---
DPY19L3	147991	broad.mit.edu	37	19	32944190	32944190	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:32944190delT	uc002ntg.2	+						DPY19L3_uc002nth.1_Intron|DPY19L3_uc002nti.1_Intron	NM_207325	NP_997208			dpy-19-like 3							integral to membrane				ovary(4)	4	Esophageal squamous(110;0.162)																	---	---	---	---
LRFN3	79414	broad.mit.edu	37	19	36435937	36435937	+	3'UTR	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36435937delT	uc002oco.2	+	3						NM_024509	NP_078785			leucine rich repeat and fibronectin type III						cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)															---	---	---	---
RPS16	6217	broad.mit.edu	37	19	39926165	39926166	+	Intron	INS	-	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39926165_39926166insC	uc002olk.2	-						RPS16_uc002oll.2_Intron|RPS16_uc002olm.2_Intron	NM_001020	NP_001011			ribosomal protein S16						endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			skin(1)	1	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;4.14e-26)|all cancers(26;2.68e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)															---	---	---	---
TGFB1	7040	broad.mit.edu	37	19	41836966	41836967	+	Frame_Shift_Ins	INS	-	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41836966_41836967insT	uc002oqh.1	-	7	2030_2031	c.1163_1164insA	c.(1162-1164)AAGfs	p.K388fs	CYP2F1_uc010xvw.1_Intron	NM_000660	NP_000651	P01137	TGFB1_HUMAN	transforming growth factor, beta 1 precursor	388					active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding				0					Hyaluronidase(DB00070)													---	---	---	---
CLEC11A	6320	broad.mit.edu	37	19	51227553	51227553	+	Intron	DEL	C	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51227553delC	uc002psy.2	+							NM_002975	NP_002966			stem cell growth factor precursor						positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding			ovary(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)												OREG0025643	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
MIR520H	574493	broad.mit.edu	37	19	54244751	54244751	+	5'Flank	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54244751delT	hsa-mir-520h|MI0003175	+						uc010yeb.1_5'Flank																	0																		---	---	---	---
TNNT1	7138	broad.mit.edu	37	19	55646782	55646783	+	Intron	INS	-	T	T	rs112550851		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55646782_55646783insT	uc002qjb.3	-						TNNT1_uc002qiz.3_Intron|TNNT1_uc002qja.3_Intron|TNNT1_uc002qjc.3_Intron|TNNT1_uc002qje.3_Intron|TNNT1_uc002qjd.3_Intron	NM_003283	NP_003274			troponin T1, skeletal, slow isoform a						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)														---	---	---	---
NOP56	10528	broad.mit.edu	37	20	2633378	2633379	+	Intron	INS	-	GAGCCTGGGCCT	GAGCCTGGGCCT	rs149713688	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2633378_2633379insGAGCCTGGGCCT	uc002wgh.2	+						NOP56_uc010zpy.1_Intron|MIR1292_hsa-mir-1292|MI0006433_5'Flank|NOP56_uc002wgi.2_5'Flank|SNORD110_uc002wgj.2_5'Flank|SNORA51_uc002wgk.1_5'Flank|NOP56_uc002wgm.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																		---	---	---	---
JAG1	182	broad.mit.edu	37	20	10630345	10630345	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:10630345delA	uc002wnw.2	-						JAG1_uc010gcd.1_Intron	NM_000214	NP_000205			jagged 1 precursor						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				---	---	---	---
C20orf152	140894	broad.mit.edu	37	20	34611435	34611436	+	Intron	INS	-	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:34611435_34611436insA	uc002xes.1	+						C20orf152_uc002xer.1_Intron|C20orf152_uc010gfp.1_Intron					SubName: Full=C20orf152 protein;												0	Breast(12;0.00631)																	---	---	---	---
C20orf132	140699	broad.mit.edu	37	20	35740577	35740578	+	Intron	INS	-	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35740577_35740578insA	uc010zvu.1	-						C20orf132_uc002xgk.2_Intron	NM_152503	NP_689716			hypothetical protein LOC140699 isoform 1												0		Myeloproliferative disorder(115;0.00878)																---	---	---	---
NCOA3	8202	broad.mit.edu	37	20	46281062	46281062	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:46281062delA	uc002xtk.2	+						NCOA3_uc002xtl.2_Intron|NCOA3_uc002xtm.2_Intron|NCOA3_uc002xtn.2_Intron|NCOA3_uc010zyc.1_Intron	NM_181659	NP_858045			nuclear receptor coactivator 3 isoform a						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																		---	---	---	---
PCK1	5105	broad.mit.edu	37	20	56141007	56141007	+	3'UTR	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:56141007delT	uc002xyn.3	+	10					PCK1_uc010zzm.1_3'UTR	NM_002591	NP_002582			cytosolic phosphoenolpyruvate carboxykinase 1						gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			skin(1)	1	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)															---	---	---	---
Unknown	0	broad.mit.edu	37	21	9483288	9483288	+	IGR	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:9483288delA								None (None upstream) : None (None downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	21	11114442	11114442	+	IGR	DEL	A	-	-	rs5842456		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:11114442delA								BAGE (15505 upstream) : None (None downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	21	40499414	40499415	+	IGR	INS	-	T	T	rs147438953	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:40499414_40499415insT								ETS2 (302538 upstream) : PSMG1 (47975 downstream)																																			---	---	---	---
BCR	613	broad.mit.edu	37	22	23634615	23634615	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:23634615delT	uc002zww.2	+						BCR_uc002zwx.2_Intron|BCR_uc011aiy.1_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								---	---	---	---
POLA1	5422	broad.mit.edu	37	X	24742415	24742415	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:24742415delT	uc004dbl.2	+						POLA1_uc004dbm.2_Intron|POLA1_uc004dbn.2_Intron	NM_016937	NP_058633			DNA-directed DNA polymerase alpha 1						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)													---	---	---	---
RPGR	6103	broad.mit.edu	37	X	38169792	38169792	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:38169792delA	uc004ded.1	-						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																		---	---	---	---
USP9X	8239	broad.mit.edu	37	X	41073730	41073730	+	Intron	DEL	A	-	-	rs7051021		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:41073730delA	uc004dfb.2	+						USP9X_uc004dfc.2_Intron	NM_001039590	NP_001034679			ubiquitin specific protease 9, X-linked isoform						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6																		---	---	---	---
CASK	8573	broad.mit.edu	37	X	41524466	41524467	+	Intron	INS	-	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:41524466_41524467insA	uc004dfl.3	-						CASK_uc004dfk.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron	NM_003688	NP_003679			calcium/calmodulin-dependent serine protein						cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			ovary(3)|lung(2)|stomach(1)	6																		---	---	---	---
WNK3	65267	broad.mit.edu	37	X	54228636	54228636	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54228636delA	uc004dtd.1	-						WNK3_uc004dtc.1_Intron	NM_001002838	NP_001002838			WNK lysine deficient protein kinase 3 isoform 2						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																		---	---	---	---
TAF1	6872	broad.mit.edu	37	X	70587704	70587705	+	Intron	DEL	AG	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70587704_70587705delAG	uc004dzu.3	+						BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Intron	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-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:71492424delA								PIN4 (7612 upstream) : RPS4X (30 downstream)																																			---	---	---	---
TMEM164	84187	broad.mit.edu	37	X	109387871	109387871	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:109387871delT	uc004eom.2	+						TMEM164_uc004eol.2_Intron|TMEM164_uc010npq.2_Intron	NM_032227	NP_115603			transmembrane protein 164 isoform b							integral to membrane				large_intestine(1)|lung(1)|skin(1)	3																		---	---	---	---
DOCK11	139818	broad.mit.edu	37	X	117733260	117733260	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:117733260delA	uc004eqp.2	+						DOCK11_uc004eqq.2_Intron	NM_144658	NP_653259			dedicator of cytokinesis 11						blood coagulation	cytosol	GTP binding			ovary(3)	3																		---	---	---	---
Unknown	0	broad.mit.edu	37	X	118012394	118012394	+	IGR	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:118012394delT								ZCCHC12 (51464 upstream) : LONRF3 (96319 downstream)																																			---	---	---	---
AIFM1	9131	broad.mit.edu	37	X	129272440	129272440	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129272440delA	uc004evg.2	-						AIFM1_uc011mur.1_5'Flank|AIFM1_uc011mus.1_Intron|AIFM1_uc004evh.2_Intron|AIFM1_uc004evi.2_Intron|AIFM1_uc004evk.2_Intron	NM_004208	NP_004199			programmed cell death 8 isoform 1						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(4)|central_nervous_system(1)	5																		---	---	---	---
PASD1	139135	broad.mit.edu	37	X	150816900	150816900	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:150816900delT	uc004fev.3	+							NM_173493	NP_775764			PAS domain containing 1							nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
ZNF185	7739	broad.mit.edu	37	X	152091356	152091356	+	Intron	DEL	G	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152091356delG	uc010ntv.1	+						ZNF185_uc011myg.1_Intron|ZNF185_uc011myh.1_Intron|ZNF185_uc011myi.1_Intron|ZNF185_uc011myj.1_Intron|ZNF185_uc011myk.1_Intron|ZNF185_uc004fgw.3_Intron|ZNF185_uc004fgu.2_Intron|ZNF185_uc004fgv.2_Intron	NM_007150	NP_009081			zinc finger protein 185							cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
PER3	8863	broad.mit.edu	37	1	7845483	7845483	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:7845483delT	uc001aoo.2	+						PER3_uc009vmg.1_Intron|PER3_uc009vmh.1_Intron|PER3_uc001aop.2_Intron|PER3_uc010nzw.1_Intron|PER3_uc001aon.2_Intron	NM_016831	NP_058515			period 3						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)														---	---	---	---
NMNAT1	64802	broad.mit.edu	37	1	10041299	10041301	+	Intron	DEL	TTT	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:10041299_10041301delTTT	uc001aqp.2	+							NM_022787	NP_073624			nicotinamide mononucleotide adenylyltransferase						water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding				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;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)														---	---	---	---
FBXO42	54455	broad.mit.edu	37	1	16632518	16632518	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16632518delT	uc001ayg.2	-						FBXO42_uc001ayf.2_Intron|FBXO42_uc001ayh.2_Intron	NM_018994	NP_061867			F-box protein 42											upper_aerodigestive_tract(1)|skin(1)	2		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;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)														---	---	---	---
Unknown	0	broad.mit.edu	37	1	20200621	20200635	+	IGR	DEL	CACCACCACCACCAC	-	-	rs144954291		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:20200621_20200635delCACCACCACCACCAC								RNF186 (58850 upstream) : OTUD3 (8253 downstream)																																			---	---	---	---
PHACTR4	65979	broad.mit.edu	37	1	28817969	28817970	+	Intron	INS	-	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:28817969_28817970insA	uc001bpw.2	+						PHACTR4_uc001bpv.1_Intron|PHACTR4_uc001bpx.2_Intron|PHACTR4_uc001bpy.2_Intron|PHACTR4_uc001bpz.2_5'Flank	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)														---	---	---	---
Unknown	0	broad.mit.edu	37	1	31128558	31128559	+	IGR	INS	-	TGG	TGG	rs150361136	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:31128558_31128559insTGG								None (None upstream) : MATN1 (55567 downstream)																																			---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39785384	39785385	+	Frame_Shift_Ins	INS	-	A	A	rs146466275		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39785384_39785385insA	uc010ois.1	+	32	4214_4215	c.4009_4010insA	c.(4009-4011)CAAfs	p.Q1337fs	MACF1_uc001cda.1_Frame_Shift_Ins_p.Q1245fs|MACF1_uc001cdc.1_Frame_Shift_Ins_p.Q424fs|MACF1_uc009vvq.1_Frame_Shift_Ins_p.Q394fs|MACF1_uc001cdb.1_Frame_Shift_Ins_p.Q424fs	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1337					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)															---	---	---	---
PPT1	5538	broad.mit.edu	37	1	40554959	40554959	+	Intron	DEL	A	-	-	rs35753001		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40554959delA	uc001cfb.2	-						PPT1_uc010ojf.1_Intron|PPT1_uc010ojg.1_Intron|PPT1_uc009vwa.2_Intron	NM_000310	NP_000301			palmitoyl-protein thioesterase 1 isoform 1						brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity			ovary(1)	1	Lung NSC(20;3.43e-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;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)															---	---	---	---
Unknown	0	broad.mit.edu	37	1	42506945	42506945	+	IGR	DEL	G	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:42506945delG								HIVEP3 (5349 upstream) : GUCA2B (112147 downstream)																																			---	---	---	---
PIK3R3	8503	broad.mit.edu	37	1	46546081	46546081	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46546081delT	uc001cpb.3	-						PIK3R3_uc009vyb.2_Intron|PIK3R3_uc009vyc.2_Intron|PIK3R3_uc001cpc.3_Intron|PIK3R3_uc010olw.1_Intron	NM_003629	NP_003620			phosphoinositide-3-kinase, regulatory subunit 3						insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding				0	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---
MKNK1	8569	broad.mit.edu	37	1	47037895	47037895	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47037895delT	uc001cqb.2	-						MKNK1_uc010omd.1_Intron|MKNK1_uc001cqc.2_Intron|MKNK1_uc009vyi.2_Intron|MKNK1_uc010ome.1_Intron|MKNK1_uc009vyj.2_Intron|MKNK1_uc001cqd.2_Intron	NM_003684	NP_003675			MAP kinase-interacting serine/threonine kinase 1						intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)	2	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---
C1orf163	65260	broad.mit.edu	37	1	53153917	53153917	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53153917delT	uc001cui.1	-							NM_023077	NP_075565			hypothetical protein LOC65260								binding				0																		---	---	---	---
USP24	23358	broad.mit.edu	37	1	55604693	55604693	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:55604693delA	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																		---	---	---	---
SLC35D1	23169	broad.mit.edu	37	1	67517592	67517592	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:67517592delT	uc001ddk.2	-						SLC35D1_uc010oph.1_Intron	NM_015139	NP_055954			solute carrier family 35 (UDP-glucuronic						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)													---	---	---	---
SPATA1	64173	broad.mit.edu	37	1	84981989	84981989	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:84981989delA	uc001djz.1	+	2	212	c.13delA	c.(13-15)AAAfs	p.K5fs	SPATA1_uc001djx.2_Frame_Shift_Del_p.K5fs|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)														---	---	---	---
PTBP2	58155	broad.mit.edu	37	1	97279080	97279080	+	3'UTR	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:97279080delT	uc001drq.2	+	14					PTBP2_uc001drn.2_3'UTR|PTBP2_uc001dro.2_3'UTR|PTBP2_uc010otz.1_3'UTR|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_3'UTR|PTBP2_uc001drr.2_3'UTR|PTBP2_uc010oua.1_3'UTR|PTBP2_uc001dru.2_RNA|PTBP2_uc001drs.1_3'UTR|PTBP2_uc001drt.2_3'UTR	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)														---	---	---	---
LRRC39	127495	broad.mit.edu	37	1	100624001	100624002	+	Intron	DEL	TT	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:100624001_100624002delTT	uc001dsw.1	-						LRRC39_uc001dsx.1_Intron|LRRC39_uc001dsy.1_Intron|LRRC39_uc001dsz.1_Intron	NM_144620	NP_653221			leucine rich repeat containing 39											ovary(2)|skin(1)	3		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)														---	---	---	---
MYBPHL	343263	broad.mit.edu	37	1	109836686	109836686	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109836686delA	uc001dxk.1	-						MYBPHL_uc010ovh.1_Intron|MYBPHL_uc001dxl.2_Intron	NM_001010985	NP_001010985			myosin binding protein H-like											ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)														---	---	---	---
PSMA5	5686	broad.mit.edu	37	1	109952507	109952507	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109952507delA	uc001dxn.2	-						PSMA5_uc010ovj.1_Intron	NM_002790	NP_002781			proteasome alpha 5 subunit						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 core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity				0		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)														---	---	---	---
GSTM2	2946	broad.mit.edu	37	1	110215802	110215802	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110215802delT	uc001dyi.2	+						GSTM2_uc001dyj.2_Intron|GSTM2_uc010ovt.1_Intron|GSTM2_uc009wfk.2_Intron	NM_000848	NP_000839			glutathione S-transferase mu 2 isoform 1						glutathione metabolic process|xenobiotic catabolic process	cytoplasm	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;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)													---	---	---	---
POGZ	23126	broad.mit.edu	37	1	151384306	151384306	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151384306delA	uc001eyd.1	-						POGZ_uc001eye.1_Intron|POGZ_uc010pdb.1_Intron|POGZ_uc001eyf.1_Intron|POGZ_uc010pdc.1_Intron|POGZ_uc009wmv.1_Intron|POGZ_uc010pdd.1_Intron	NM_015100	NP_055915			pogo transposable element with ZNF domain						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)															---	---	---	---
GATAD2B	57459	broad.mit.edu	37	1	153790790	153790790	+	Intron	DEL	C	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153790790delC	uc001fdb.3	-							NM_020699	NP_065750			GATA zinc finger domain containing 2B							nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)															---	---	---	---
CD1E	913	broad.mit.edu	37	1	158326836	158326836	+	3'UTR	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158326836delT	uc001fse.2	+	6					CD1E_uc001fsd.2_3'UTR|CD1E_uc001fsk.2_3'UTR|CD1E_uc001fsj.2_3'UTR|CD1E_uc001fsc.2_3'UTR|CD1E_uc010pig.1_RNA|CD1E_uc001fsa.2_3'UTR|CD1E_uc001fsf.2_3'UTR|CD1E_uc001fry.2_3'UTR|CD1E_uc001fsg.2_3'UTR|CD1E_uc001fsh.2_3'UTR|CD1E_uc001fsi.2_3'UTR|CD1E_uc009wsv.2_3'UTR|CD1E_uc001frz.2_3'UTR|CD1E_uc009wsw.2_3'UTR	NM_030893	NP_112155			CD1E antigen isoform a precursor						antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				skin(3)	3	all_hematologic(112;0.0378)																	---	---	---	---
CASQ1	844	broad.mit.edu	37	1	160168300	160168300	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160168300delA	uc010pja.1	+							NM_001231	NP_001222			calsequestrin 1							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)															---	---	---	---
RABGAP1L	9910	broad.mit.edu	37	1	174210539	174210540	+	Intron	INS	-	A	A	rs78454143	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:174210539_174210540insA	uc001gjx.2	+						RABGAP1L_uc009wwq.1_Intron|RABGAP1L_uc001gjw.2_Intron	NM_014857	NP_055672			RAB GTPase activating protein 1-like isoform A						regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			ovary(2)|lung(1)|kidney(1)	4																		---	---	---	---
RFWD2	64326	broad.mit.edu	37	1	176012691	176012691	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:176012691delA	uc001gku.1	-						RFWD2_uc001gkv.1_Intron|RFWD2_uc001gkw.1_Intron|RFWD2_uc009wwv.2_Intron|RFWD2_uc001gkt.1_Intron	NM_022457	NP_071902			ring finger and WD repeat domain 2 isoform a						DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0																		---	---	---	---
XPR1	9213	broad.mit.edu	37	1	180805950	180805950	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:180805950delT	uc001goi.2	+						XPR1_uc009wxn.2_Intron	NM_004736	NP_004727			xenotropic and polytropic retrovirus receptor							integral to plasma membrane	G-protein coupled receptor activity				0																		---	---	---	---
C1orf14	81626	broad.mit.edu	37	1	182920666	182920669	+	Intron	DEL	TTTT	-	-	rs77465244		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:182920666_182920669delTTTT	uc001gpu.2	-						C1orf14_uc001gpv.2_Intron|C1orf14_uc010pnz.1_Intron|C1orf14_uc001gpw.2_Intron	NM_030933	NP_112195			chromosome 1 open reading frame 14												0				Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)														---	---	---	---
RNF2	6045	broad.mit.edu	37	1	185069236	185069236	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:185069236delA	uc001grc.1	+						RNF2_uc001grd.1_Intron|RNF2_uc001gre.1_Intron	NM_007212	NP_009143			ring finger protein 2						histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			breast(1)	1		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)														---	---	---	---
ZBTB41	360023	broad.mit.edu	37	1	197159832	197159833	+	Intron	INS	-	C	C	rs141683962	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197159832_197159833insC	uc001gtx.1	-						ZBTB41_uc009wyz.1_Intron	NM_194314	NP_919290			zinc finger and BTB domain containing 41						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---
CAMSAP1L1	23271	broad.mit.edu	37	1	200816521	200816523	+	Intron	DEL	GTG	-	-	rs2172666		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200816521_200816523delGTG	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																		---	---	---	---
IGFN1	91156	broad.mit.edu	37	1	201195812	201195812	+	Intron	DEL	A	-	-	rs34207437		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201195812delA	uc001gwc.2	+						IGFN1_uc001gwb.2_Intron	NM_178275	NP_840059			RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;											ovary(2)|pancreas(1)	3																		---	---	---	---
NAV1	89796	broad.mit.edu	37	1	201749845	201749846	+	Intron	INS	-	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201749845_201749846insA	uc001gwu.2	+						NAV1_uc001gwv.1_Intron|NAV1_uc001gww.1_Intron|NAV1_uc001gwx.2_Intron|NAV1_uc001gwy.1_5'Flank	NM_020443	NP_065176			neuron navigator 1						cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4																		---	---	---	---
KDM5B	10765	broad.mit.edu	37	1	202710853	202710853	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202710853delA	uc001gyf.2	-						KDM5B_uc009xag.2_Intron|KDM5B_uc001gyg.1_Intron	NM_006618	NP_006609			jumonji, AT rich interactive domain 1B						negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5																		---	---	---	---
Unknown	0	broad.mit.edu	37	1	204363980	204363980	+	IGR	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204363980delA								LOC127841 (25133 upstream) : PPP1R15B (8514 downstream)																																			---	---	---	---
RAB3GAP2	25782	broad.mit.edu	37	1	220355522	220355522	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220355522delA	uc010puk.1	-						RAB3GAP2_uc001hmf.2_Intron|RAB3GAP2_uc001hmg.2_Intron	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)														---	---	---	---
KIDINS220	57498	broad.mit.edu	37	2	8877236	8877236	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:8877236delA	uc002qzc.2	-						KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Intron|KIDINS220_uc010yiw.1_Intron|KIDINS220_uc002qzb.2_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)																	---	---	---	---
PUM2	23369	broad.mit.edu	37	2	20454512	20454512	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:20454512delA	uc002rds.1	-						PUM2_uc002rdq.1_Intron|PUM2_uc002rdt.1_Intron|PUM2_uc002rdr.2_Intron|PUM2_uc010yjy.1_Intron|PUM2_uc002rdu.1_Intron|PUM2_uc010yjz.1_Intron	NM_015317	NP_056132			pumilio homolog 2						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)																	---	---	---	---
DNMT3A	1788	broad.mit.edu	37	2	25551452	25551452	+	Intron	DEL	C	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:25551452delC	uc002rgc.2	-						DNMT3A_uc002rgd.2_Intron|DNMT3A_uc010eyi.2_Intron|DNMT3A_uc002rge.2_Intron|DNMT3A_uc002rgf.2_Intron	NM_022552	NP_072046			DNA cytosine methyltransferase 3 alpha isoform						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								---	---	---	---
VRK2	7444	broad.mit.edu	37	2	58362160	58362161	+	Intron	DEL	AG	-	-	rs11678320	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:58362160_58362161delAG	uc002rzo.2	+						VRK2_uc010fcb.2_Intron|VRK2_uc002rzs.2_Intron|VRK2_uc002rzr.2_Intron|VRK2_uc010fcc.2_Intron|VRK2_uc002rzv.2_Intron|VRK2_uc010fcd.2_Intron|VRK2_uc002rzp.2_Intron|VRK2_uc010ypg.1_Intron|VRK2_uc002rzq.2_Intron|VRK2_uc002rzu.2_Intron|VRK2_uc002rzt.2_Intron	NM_001130482	NP_001123954			vaccinia related kinase 2 isoform 2							integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1																		---	---	---	---
PPP3R1	5534	broad.mit.edu	37	2	68413787	68413787	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:68413787delA	uc002sei.1	-							NM_000945	NP_000936			protein phosphatase 3, regulatory subunit B,						activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	calcineurin complex|cytosol	calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding				0					Pimecrolimus(DB00337)													---	---	---	---
SNRNP200	23020	broad.mit.edu	37	2	96955213	96955213	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:96955213delT	uc002svu.2	-						SNRNP200_uc002svw.1_Intron	NM_014014	NP_054733			activating signal cointegrator 1 complex subunit							catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10																		---	---	---	---
GCC2	9648	broad.mit.edu	37	2	109089258	109089258	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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																		---	---	---	---
EDAR	10913	broad.mit.edu	37	2	109524512	109524512	+	Intron	DEL	G	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109524512delG	uc002teq.3	-						EDAR_uc010fjn.2_Intron|EDAR_uc010yws.1_Intron	NM_022336	NP_071731			ectodysplasin A receptor precursor						apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			skin(1)	1																		---	---	---	---
ZC3H6	376940	broad.mit.edu	37	2	113043538	113043538	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113043538delA	uc002thq.1	+							NM_198581	NP_940983			zinc finger CCCH-type domain containing 6								nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4																		---	---	---	---
Unknown	0	broad.mit.edu	37	2	130893081	130893082	+	IGR	DEL	AA	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:130893081_130893082delAA								POTEF (6286 upstream) : CCDC74B (3780 downstream)																																			---	---	---	---
RIF1	55183	broad.mit.edu	37	2	152331352	152331352	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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	152524209	152524209	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152524209delT	uc010fnx.2	-							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)														---	---	---	---
PRPF40A	55660	broad.mit.edu	37	2	153515881	153515881	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:153515881delA	uc002tyh.3	-						PRPF40A_uc002tyg.3_Intron|PRPF40A_uc010zcd.1_Intron	NM_017892	NP_060362			formin binding protein 3						mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0																		---	---	---	---
FAP	2191	broad.mit.edu	37	2	163045691	163045691	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:163045691delA	uc002ucd.2	-						FAP_uc010fpc.2_Intron|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																		---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171248018	171248018	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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																		---	---	---	---
TTN	7273	broad.mit.edu	37	2	179479903	179479903	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179479903delA	uc010zfg.1	-						uc002ump.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron	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)															---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196602560	196602560	+	3'UTR	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:196602560delA	uc002utj.3	-	65					DNAH7_uc002uti.3_3'UTR	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																		---	---	---	---
CCDC150	284992	broad.mit.edu	37	2	197584490	197584490	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197584490delA	uc002utp.1	+						CCDC150_uc010zgs.1_Intron|CCDC150_uc010zgt.1_Intron|CCDC150_uc002utq.1_Intron|CCDC150_uc002utr.1_Intron	NM_001080539	NP_001074008			coiled-coil domain containing 150												0																		---	---	---	---
NRP2	8828	broad.mit.edu	37	2	206659845	206659845	+	3'UTR	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:206659845delT	uc002vaw.2	+	17					NRP2_uc002vax.2_3'UTR|NRP2_uc002vay.2_3'UTR	NM_201266	NP_957718			neuropilin 2 isoform 1 precursor						angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
CRYGA	1418	broad.mit.edu	37	2	209028422	209028422	+	5'Flank	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209028422delT	uc002vcq.3	-							NM_014617	NP_055432			crystallin, gamma A						visual perception		structural constituent of eye lens				0				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)														---	---	---	---
TNS1	7145	broad.mit.edu	37	2	218673101	218673101	+	Intron	DEL	G	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:218673101delG	uc002vgt.2	-						TNS1_uc002vgr.2_Intron|TNS1_uc002vgs.2_Intron|TNS1_uc002vgq.2_Intron	NM_022648	NP_072174			tensin							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)														---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220348470	220348470	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220348470delG	uc010fwg.2	+	30	6285	c.6285delG	c.(6283-6285)CTGfs	p.L2095fs		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2095					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)														---	---	---	---
KCNE4	23704	broad.mit.edu	37	2	223917432	223917432	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:223917432delT	uc002vnl.3	+							NM_080671	NP_542402			potassium voltage-gated channel, Isk-related							integral to membrane	voltage-gated potassium channel activity			ovary(1)	1		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)														---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225661961	225661961	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:225661961delT	uc010fwz.1	-						DOCK10_uc002vob.2_Intron|DOCK10_uc002voa.2_Intron|DOCK10_uc002voc.2_Intron	NM_014689	NP_055504			dedicator of cytokinesis 10								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)														---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225714373	225714373	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:225714373delA	uc010fwz.1	-						DOCK10_uc002vob.2_Intron	NM_014689	NP_055504			dedicator of cytokinesis 10								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)														---	---	---	---
AGFG1	3267	broad.mit.edu	37	2	228388444	228388444	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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																		---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228846310	228846310	+	3'UTR	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:228846310delT	uc002vpq.2	-	12					SPHKAP_uc002vpp.2_3'UTR|SPHKAP_uc010zlx.1_3'UTR	NM_001142644	NP_001136116			sphingosine kinase type 1-interacting protein							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)														---	---	---	---
CLASP2	23122	broad.mit.edu	37	3	33668576	33668576	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:33668576delA	uc003cfu.2	-						CLASP2_uc003cft.2_Intron|CLASP2_uc010hgb.2_Intron|CLASP2_uc003cfv.2_Intron|CLASP2_uc011axu.1_Intron|CLASP2_uc003cfw.2_Intron|CLASP2_uc011axt.1_5'Flank	NM_015097	NP_055912			CLIP-associating protein 2											ovary(3)|central_nervous_system(1)	4																		---	---	---	---
KIF15	56992	broad.mit.edu	37	3	44868019	44868019	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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)														---	---	---	---
DALRD3	55152	broad.mit.edu	37	3	49056032	49056033	+	5'Flank	INS	-	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49056032_49056033insT	uc003cvk.1	-						DALRD3_uc003cvl.1_5'Flank|DALRD3_uc003cvm.1_Intron|DALRD3_uc010hko.1_Intron|DALRD3_uc011bca.1_5'Flank|NDUFAF3_uc003cvn.2_5'Flank|NDUFAF3_uc003cvp.2_5'Flank	NM_001009996	NP_001009996			DALR anticodon binding domain containing 3						arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)														---	---	---	---
LAMB2	3913	broad.mit.edu	37	3	49162954	49162954	+	Intron	DEL	G	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49162954delG	uc003cwe.2	-						LAMB2_uc003cwf.1_Intron	NM_002292	NP_002283			laminin, beta 2 precursor						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)														---	---	---	---
VPRBP	9730	broad.mit.edu	37	3	51474927	51474928	+	Intron	INS	-	A	A	rs138532978	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51474927_51474928insA	uc003dbe.1	-							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)														---	---	---	---
RAD54L2	23132	broad.mit.edu	37	3	51664703	51664703	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51664703delT	uc011bdt.1	+						RAD54L2_uc003dbh.2_Intron|RAD54L2_uc011bdu.1_Intron|RAD54L2_uc003dbj.2_Intron	NM_015106	NP_055921			RAD54-like 2							nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)														---	---	---	---
ITIH3	3699	broad.mit.edu	37	3	52833559	52833560	+	Intron	DEL	TT	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52833559_52833560delTT	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)														---	---	---	---
CGGBP1	8545	broad.mit.edu	37	3	88104473	88104473	+	3'UTR	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:88104473delT	uc003dqs.2	-	4					CGGBP1_uc003dqt.2_3'UTR|CGGBP1_uc003dqu.2_3'UTR	NM_001008390	NP_001008391			CGG triplet repeat binding protein 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding				0		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)														---	---	---	---
TBC1D23	55773	broad.mit.edu	37	3	100042414	100042414	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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																		---	---	---	---
Unknown	0	broad.mit.edu	37	3	112243552	112243552	+	IGR	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:112243552delA								BTLA (25144 upstream) : ATG3 (7808 downstream)																																			---	---	---	---
KALRN	8997	broad.mit.edu	37	3	123813849	123813849	+	Intron	DEL	G	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:123813849delG	uc003ehg.2	+						KALRN_uc003ehd.2_Intron|KALRN_uc003ehe.2_Intron|KALRN_uc010hru.1_Intron|KALRN_uc010hrv.1_Intron|KALRN_uc010hrw.1_Intron|KALRN_uc003ehf.1_Intron|KALRN_uc011bjy.1_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																		---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130381353	130381353	+	Intron	DEL	T	-	-	rs146981165		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130381353delT	uc010htl.2	+						COL6A6_uc003eni.3_Intron	NM_001102608	NP_001096078			collagen type VI alpha 6 precursor						axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8																		---	---	---	---
MYNN	55892	broad.mit.edu	37	3	169501506	169501506	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:169501506delT	uc003fft.2	+						MYNN_uc011bpm.1_Intron|MYNN_uc003ffu.2_Intron|MYNN_uc003ffv.2_Intron|MYNN_uc010hwo.2_Intron|MYNN_uc003ffw.1_Intron	NM_018657	NP_061127			myoneurin							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)															---	---	---	---
SAMD7	344658	broad.mit.edu	37	3	169654007	169654007	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:169654007delT	uc003fgd.2	+						SAMD7_uc003fge.2_Intron|SAMD7_uc011bpo.1_Intron	NM_182610	NP_872416			sterile alpha motif domain containing 7											skin(1)	1	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)															---	---	---	---
KLHL24	54800	broad.mit.edu	37	3	183396774	183396774	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183396774delT	uc003flv.2	+						KLHL24_uc003flw.2_Intron	NM_017644	NP_060114			DRE1 protein							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)															---	---	---	---
ATP13A4	84239	broad.mit.edu	37	3	193128638	193128638	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:193128638delT	uc003ftd.2	-						ATP13A4_uc010hzi.2_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)														---	---	---	---
FGFRL1	53834	broad.mit.edu	37	4	1015931	1015931	+	Intron	DEL	C	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1015931delC	uc003gce.2	+						FGFRL1_uc003gcf.2_Intron|FGFRL1_uc003gcg.2_Intron|FGFRL1_uc010ibo.2_Intron	NM_021923	NP_068742			fibroblast growth factor receptor-like 1						regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)															---	---	---	---
TAPT1	202018	broad.mit.edu	37	4	16189981	16189981	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:16189981delA	uc010ied.1	-						TAPT1_uc011bxd.1_Intron|TAPT1_uc011bxe.1_Intron	NM_153365	NP_699196			transmembrane anterior posterior transformation							integral to membrane	growth hormone-releasing hormone receptor activity				0																		---	---	---	---
SEPSECS	51091	broad.mit.edu	37	4	25158330	25158338	+	Intron	DEL	AAAAAAAAA	-	-	rs67652506		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:25158330_25158338delAAAAAAAAA	uc003grg.2	-						SEPSECS_uc003gri.2_Intron|SEPSECS_uc003grh.2_Intron	NM_153825	NP_722547			Sep (O-phosphoserine) tRNA:Sec (selenocysteine)						selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding				0		Breast(46;0.173)			Pyridoxal Phosphate(DB00114)													---	---	---	---
UBE2K	3093	broad.mit.edu	37	4	39773097	39773098	+	Intron	INS	-	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39773097_39773098insT	uc003guu.3	+						UBE2K_uc003gus.3_Intron|UBE2K_uc003gut.3_Intron|UBE2K_uc010ifn.2_Intron|UBE2K_uc011byq.1_Intron|UBE2K_uc003guq.3_Intron	NM_005339	NP_005330			ubiquitin-conjugating enzyme E2K isoform 1						protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|ubiquitin protein ligase binding|ubiquitin-ubiquitin ligase activity			ovary(1)	1																		---	---	---	---
GUF1	60558	broad.mit.edu	37	4	44680574	44680574	+	5'UTR	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:44680574delA	uc003gww.3	+	1					GUF1_uc010ifz.1_RNA	NM_021927	NP_068746			GUF1 GTPase homolog						translation	mitochondrial inner membrane	GTP binding|GTPase activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
NFXL1	152518	broad.mit.edu	37	4	47899965	47899965	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47899965delA	uc010igh.2	-						NFXL1_uc003gxp.2_Intron|NFXL1_uc003gxq.3_Intron|NFXL1_uc010igi.2_Intron	NM_152995	NP_694540			nuclear transcription factor, X-box binding-like							integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
MRPL1	65008	broad.mit.edu	37	4	78793017	78793017	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:78793017delT	uc003hku.2	+							NM_020236	NP_064621			mitochondrial ribosomal protein L1 precursor								RNA binding				0																		---	---	---	---
C4orf36	132989	broad.mit.edu	37	4	87797940	87797940	+	Intron	DEL	A	-	-	rs72349471		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:87797940delA	uc003hqe.3	-							NM_144645	NP_653246			hypothetical protein LOC132989												0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)														---	---	---	---
PPM1K	152926	broad.mit.edu	37	4	89189773	89189773	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:89189773delA	uc003hrm.3	-							NM_152542	NP_689755			protein phosphatase 1K (PP2C domain containing)						protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity				0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)														---	---	---	---
EIF4E	1977	broad.mit.edu	37	4	99806216	99806216	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:99806216delA	uc003hue.2	-						EIF4E_uc011cea.1_Intron|EIF4E_uc011ceb.1_Intron	NM_001968	NP_001959			eukaryotic translation initiation factor 4E						G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity			lung(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)														---	---	---	---
NDST3	9348	broad.mit.edu	37	4	119147909	119147909	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:119147909delT	uc003ibx.2	+						NDST3_uc011cgf.1_Intron	NM_004784	NP_004775			N-deacetylase/N-sulfotransferase (heparan							Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1																		---	---	---	---
ADAD1	132612	broad.mit.edu	37	4	123301135	123301135	+	Intron	DEL	G	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123301135delG	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																		---	---	---	---
KLHL2	11275	broad.mit.edu	37	4	166215663	166215663	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:166215663delT	uc003irb.2	+						KLHL2_uc011cjm.1_Intron|KLHL2_uc003irc.2_Intron|KLHL2_uc010ira.2_Intron	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)														---	---	---	---
Unknown	0	broad.mit.edu	37	4	185536442	185536442	+	IGR	DEL	G	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:185536442delG								IRF2 (140716 upstream) : CASP3 (12410 downstream)																																			---	---	---	---
ZDHHC11	79844	broad.mit.edu	37	5	822065	822065	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:822065delA	uc011cma.1	-						ZDHHC11_uc010itc.2_Intron|ZDHHC11_uc003jbj.2_Intron	NM_024786	NP_079062			zinc finger, DHHC-type containing 11							integral to membrane	acyltransferase activity|zinc ion binding			skin(1)|pancreas(1)	2			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)															---	---	---	---
IRX1	79192	broad.mit.edu	37	5	3599265	3599266	+	Intron	DEL	TC	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:3599265_3599266delTC	uc003jde.2	+							NM_024337	NP_077313			iroquois homeobox protein 1							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2																		---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21802252	21802252	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:21802252delA	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)			---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	31840576	31840576	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:31840576delT	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																		---	---	---	---
LMBRD2	92255	broad.mit.edu	37	5	36114745	36114745	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:36114745delA	uc003jkb.1	-							NM_001007527	NP_001007528			LMBR1 domain containing 2							integral to membrane					0	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---
MOCS2	4338	broad.mit.edu	37	5	52404220	52404220	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:52404220delA	uc011cqf.1	-						MOCS2_uc003joz.2_Intron|uc003jpb.1_5'Flank	NM_176806	NP_789776			molybdopterin synthase small subunit MOCS2A						Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding				0		Lung NSC(810;3.08e-05)|Breast(144;0.0848)																---	---	---	---
DHX29	54505	broad.mit.edu	37	5	54586202	54586202	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:54586202delA	uc003jpx.2	-						DHX29_uc010ivw.2_Intron	NM_019030	NP_061903			DEAH (Asp-Glu-Ala-His) box polypeptide 29								ATP binding|ATP-dependent helicase activity|translation initiation factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)																---	---	---	---
BDP1	55814	broad.mit.edu	37	5	70754290	70754290	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:70754290delT	uc003kbp.1	+						BDP1_uc003kbn.1_Intron|BDP1_uc003kbo.2_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)														---	---	---	---
EDIL3	10085	broad.mit.edu	37	5	83550040	83550040	+	Intron	DEL	A	-	-	rs55795105	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:83550040delA	uc003kio.1	-						EDIL3_uc003kip.1_Intron	NM_005711	NP_005702			EGF-like repeats and discoidin I-like						cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			skin(2)	2		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)														---	---	---	---
CSNK1G3	1456	broad.mit.edu	37	5	122924299	122924299	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:122924299delA	uc003ktm.2	+						CSNK1G3_uc003ktl.2_Intron|CSNK1G3_uc003ktn.2_Intron|CSNK1G3_uc003kto.2_Intron|CSNK1G3_uc011cwr.1_Intron|CSNK1G3_uc011cws.1_Intron|CSNK1G3_uc010jda.2_Intron	NM_004384	NP_004375			casein kinase 1, gamma 3 isoform 1						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)														---	---	---	---
KIF3A	11127	broad.mit.edu	37	5	132035887	132035887	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:132035887delT	uc003kxo.2	-						KIF3A_uc003kxm.2_Intron|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)															---	---	---	---
CSNK1A1	1452	broad.mit.edu	37	5	148884875	148884875	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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)														---	---	---	---
RANBP17	64901	broad.mit.edu	37	5	170324364	170324364	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:170324364delT	uc003mba.2	+						RANBP17_uc003max.1_Intron|RANBP17_uc003may.1_Intron|RANBP17_uc003maz.1_Intron|RANBP17_uc010jjr.1_Intron|RANBP17_uc003maw.2_Intron|RANBP17_uc011dew.1_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								---	---	---	---
TSPAN17	26262	broad.mit.edu	37	5	176082911	176082912	+	Intron	DEL	AC	-	-	rs6897431	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176082911_176082912delAC	uc003met.2	+						TSPAN17_uc003mes.3_Intron|TSPAN17_uc003meu.2_Intron|TSPAN17_uc003mev.2_Intron|TSPAN17_uc003mew.2_Intron	NM_012171	NP_036303			transmembrane 4 superfamily member 17 isoform a							integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity				0	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176722543	176722543	+	3'UTR	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176722543delA	uc003mfr.3	+	23					NSD1_uc003mft.3_3'UTR|NSD1_uc011dfx.1_3'UTR	NM_022455	NP_071900			nuclear receptor binding SET domain protein 1						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)			---	---	---	---
GNB2L1	10399	broad.mit.edu	37	5	180670412	180670414	+	Intron	DEL	AGG	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180670412_180670414delAGG	uc003mni.1	-						GNB2L1_uc003mnh.1_Intron|GNB2L1_uc003mnk.1_Intron|GNB2L1_uc003mnj.1_Intron|GNB2L1_uc003mnl.1_5'Flank|GNB2L1_uc011dhk.1_Intron|GNB2L1_uc010jls.2_Intron|GNB2L1_uc011dhl.1_Intron|SNORD96A_uc010jlt.1_5'Flank|SNORD95_uc003mnn.1_5'Flank	NM_006098	NP_006089			guanine nucleotide binding protein (G protein),						apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain 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;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)														---	---	---	---
RREB1	6239	broad.mit.edu	37	6	7240518	7240519	+	Intron	DEL	TT	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7240518_7240519delTT	uc003mxc.2	+						RREB1_uc003mxb.2_Intron|RREB1_uc010jnx.2_Intron	NM_001003698	NP_001003698			ras responsive element binding protein 1 isoform						multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)																---	---	---	---
MAK	4117	broad.mit.edu	37	6	10808864	10808864	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:10808864delT	uc003mzl.2	-						SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_Intron|MAK_uc010jou.2_Intron|MAK_uc003mzm.2_Intron|MAK_uc010jov.1_Intron	NM_005906	NP_005897			male germ cell-associated kinase						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)																---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13286469	13286469	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:13286469delT	uc010jpc.2	+						PHACTR1_uc003nah.1_Intron|TBC1D7_uc003naj.2_Intron|TBC1D7_uc011dis.1_Intron|uc003nak.1_Intron	NM_030948	NP_112210			phosphatase and actin regulator 1							cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity				0	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)															---	---	---	---
XPO5	57510	broad.mit.edu	37	6	43528049	43528049	+	Intron	DEL	A	-	-	rs74544728		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43528049delA	uc003ovp.2	-							NM_020750	NP_065801			exportin 5						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)															---	---	---	---
CD2AP	23607	broad.mit.edu	37	6	47567211	47567211	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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)															---	---	---	---
GSTA3	2940	broad.mit.edu	37	6	52765063	52765063	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:52765063delT	uc003pbb.2	-						GSTA3_uc010jzq.2_Intron	NM_000847	NP_000838			glutathione S-transferase alpha 3						glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity				0	Lung NSC(77;0.0912)				Glutathione(DB00143)													---	---	---	---
GUSBL2	375513	broad.mit.edu	37	6	58287884	58287887	+	5'Flank	DEL	TTTT	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:58287884_58287887delTTTT	uc011dxq.1	-						GUSBL2_uc011dxp.1_5'Flank|GUSBL2_uc003peb.3_5'Flank|GUSBL2_uc003pec.3_5'Flank|GUSBL2_uc003ped.3_5'Flank|GUSBL2_uc003pee.3_5'Flank					SubName: Full=Putative uncharacterized protein ENSP00000348869; Flags: Fragment;												0																		---	---	---	---
PHF3	23469	broad.mit.edu	37	6	64410483	64410483	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:64410483delT	uc003pep.1	+						PHF3_uc010kah.1_Intron|PHF3_uc003pen.2_Intron|PHF3_uc011dxs.1_Intron	NM_015153	NP_055968			PHD finger protein 3						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)															---	---	---	---
MYO6	4646	broad.mit.edu	37	6	76576840	76576840	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76576840delT	uc003pih.1	+						MYO6_uc003pig.1_Intron|MYO6_uc003pii.1_Intron	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)														---	---	---	---
RRAGD	58528	broad.mit.edu	37	6	90087542	90087542	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90087542delA	uc003pnd.3	-						RRAGD_uc010kcc.2_Intron	NM_021244	NP_067067			Ras-related GTP binding D						cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity			ovary(2)|central_nervous_system(1)	3		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)														---	---	---	---
CASP8AP2	9994	broad.mit.edu	37	6	90556398	90556398	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90556398delT	uc003pnr.2	+						CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Intron|CASP8AP2_uc011dzz.1_Intron	NM_001137667	NP_001131139			caspase 8 associated protein 2						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)														---	---	---	---
C6orf167	253714	broad.mit.edu	37	6	97730435	97730438	+	Intron	DEL	GGGG	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:97730435_97730438delGGGG	uc003ppb.2	-						C6orf167_uc011eaf.1_5'Flank|C6orf167_uc010kcn.1_Intron|C6orf167_uc010kco.1_5'Flank|C6orf167_uc003ppc.2_5'Flank	NM_198468	NP_940870			hypothetical protein LOC253714						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)														---	---	---	---
PTPRK	5796	broad.mit.edu	37	6	128718505	128718505	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:128718505delT	uc003qbk.2	-						PTPRK_uc003qbj.2_Intron|PTPRK_uc010kfc.2_Intron|PTPRK_uc011ebu.1_Intron|PTPRK_uc003qbl.1_Intron|PTPRK_uc011ebv.1_Intron|PTPRK_uc003qbm.3_Intron	NM_002844	NP_002835			protein tyrosine phosphatase, receptor type, K						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)														---	---	---	---
KIAA1244	57221	broad.mit.edu	37	6	138640662	138640662	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:138640662delA	uc003qhu.2	+							NM_020340	NP_065073			brefeldin A-inhibited guanine						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)														---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144796037	144796037	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:144796037delA	uc003qkt.2	+						UTRN_uc010khq.1_Intron	NM_007124	NP_009055			utrophin						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)														---	---	---	---
SHPRH	257218	broad.mit.edu	37	6	146247559	146247560	+	Intron	INS	-	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:146247559_146247560insA	uc003qlf.2	-						SHPRH_uc003qld.2_Intron|SHPRH_uc003qle.2_Intron|SHPRH_uc003qlg.1_Intron|SHPRH_uc003qlh.2_Intron|SHPRH_uc003qli.1_Intron	NM_001042683	NP_001036148			SNF2 histone linker PHD RING helicase isoform a						DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)														---	---	---	---
Unknown	0	broad.mit.edu	37	7	22813177	22813178	+	IGR	INS	-	C	C	rs145036723	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:22813177_22813178insC								IL6 (41558 upstream) : TOMM7 (39076 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	7	63476352	63476352	+	IGR	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:63476352delA								LOC100287704 (664201 upstream) : ZNF727 (29469 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	7	64528813	64528814	+	Intron	INS	-	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:64528813_64528814insT	uc003ttt.1	+						uc010kzt.1_Intron|uc003ttu.1_5'Flank					Homo sapiens cDNA clone IMAGE:4215179, partial cds.																														---	---	---	---
Unknown	0	broad.mit.edu	37	7	65222951	65222951	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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.																														---	---	---	---
SEMA3D	223117	broad.mit.edu	37	7	84669871	84669872	+	Intron	INS	-	A	A	rs78029137		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:84669871_84669872insA	uc003uic.2	-						SEMA3D_uc010led.2_Intron|SEMA3D_uc003uib.2_Intron	NM_152754	NP_689967			semaphorin 3D precursor						cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5																		---	---	---	---
DMTF1	9988	broad.mit.edu	37	7	86822456	86822456	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:86822456delT	uc003uih.2	+						DMTF1_uc003uii.2_Intron|DMTF1_uc003uij.2_Intron|DMTF1_uc011khb.1_Intron|DMTF1_uc003uik.2_Intron|DMTF1_uc003uil.2_Intron|DMTF1_uc003uin.2_Intron	NM_001142327	NP_001135799			cyclin D binding myb-like transcription factor 1						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)																	---	---	---	---
DBF4	10926	broad.mit.edu	37	7	87516630	87516630	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87516630delT	uc003ujf.1	+						DBF4_uc003ujh.1_Intron|DBF4_uc003ujg.1_Intron|DBF4_uc011khf.1_Intron	NM_006716	NP_006707			activator of S phase kinase						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)																---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91708403	91708403	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:91708403delA	uc003ulg.2	+	31	7181	c.6956delA	c.(6955-6957)GAAfs	p.E2319fs	AKAP9_uc003ulf.2_Frame_Shift_Del_p.E2311fs|AKAP9_uc003uli.2_Frame_Shift_Del_p.E1942fs|AKAP9_uc003ulj.2_Frame_Shift_Del_p.E89fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	2331	Potential.|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								---	---	---	---
PEX1	5189	broad.mit.edu	37	7	92140456	92140457	+	Intron	DEL	TT	-	-	rs34961886		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92140456_92140457delTT	uc003uly.2	-						PEX1_uc011khr.1_Intron|PEX1_uc010ley.2_Intron|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_Intron	NM_000466	NP_000457			peroxin1						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)															---	---	---	---
COPS6	10980	broad.mit.edu	37	7	99687409	99687409	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99687409delA	uc003usu.2	+						COPS6_uc011kjf.1_Frame_Shift_Del_p.*125fs	NM_006833	NP_006824			COP9 signalosome subunit 6						cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)															---	---	---	---
CFTR	1080	broad.mit.edu	37	7	117188929	117188929	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:117188929delT	uc003vjd.2	+						CFTR_uc011knq.1_Intron	NM_000492	NP_000483			cystic fibrosis transmembrane conductance						respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)									Cystic_Fibrosis				---	---	---	---
CADPS2	93664	broad.mit.edu	37	7	122131536	122131536	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122131536delT	uc010lkp.2	-						CADPS2_uc003vkg.3_Intron|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																		---	---	---	---
SLC13A1	6561	broad.mit.edu	37	7	122757720	122757720	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122757720delA	uc003vkm.2	-						SLC13A1_uc010lks.2_Intron	NM_022444	NP_071889			solute carrier family 13 (sodium/sulfate							integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)													---	---	---	---
FSCN3	29999	broad.mit.edu	37	7	127236658	127236658	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:127236658delA	uc003vmd.1	+						FSCN3_uc011koh.1_Intron|FSCN3_uc010llc.1_Intron	NM_020369	NP_065102			fascin 3							actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1																		---	---	---	---
FAM115C	285966	broad.mit.edu	37	7	143343624	143343624	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:143343624delA	uc003wdf.2	+						FAM115C_uc003wdg.2_Intron|FAM115C_uc011ktk.1_Intron|FAM115C_uc003wdh.2_Intron|FAM115C_uc011ktm.1_Intron|uc011ktn.1_Intron|uc011kto.1_Intron|uc011ktp.1_Intron|LOC154761_uc011ktq.1_Intron|LOC154761_uc011ktr.1_Intron|LOC154761_uc011kts.1_Intron	NM_001130025	NP_001123497			hypothetical protein LOC285966 isoform A												0																		---	---	---	---
PTPRN2	5799	broad.mit.edu	37	7	157891701	157891702	+	Intron	DEL	AC	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:157891701_157891702delAC	uc003wno.2	-						PTPRN2_uc003wnp.2_Intron|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Intron	NM_002847	NP_002838			protein tyrosine phosphatase, receptor type, N							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)														---	---	---	---
ARHGEF10	9639	broad.mit.edu	37	8	1817227	1817227	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:1817227delA	uc003wpr.2	+						ARHGEF10_uc003wpq.1_Intron|ARHGEF10_uc003wps.2_Intron|ARHGEF10_uc003wpt.2_Intron|ARHGEF10_uc010lrd.1_Intron|ARHGEF10_uc003wpu.2_Intron	NM_014629	NP_055444			Rho guanine nucleotide exchange factor 10						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)														---	---	---	---
XKR5	389610	broad.mit.edu	37	8	6673270	6673270	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:6673270delA	uc003wqp.2	-						XKR5_uc003wqq.2_Intron|XKR5_uc003wqr.1_Intron	NM_207411	NP_997294			XK-related protein 5a							integral to membrane					0			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)												OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
MTUS1	57509	broad.mit.edu	37	8	17510892	17510892	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17510892delT	uc003wxv.2	-						MTUS1_uc003wxt.2_Intron|MTUS1_uc011kyg.1_Intron|MTUS1_uc010lsy.2_Intron|MTUS1_uc003wxw.2_Intron|MTUS1_uc003wxs.2_Intron	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)														---	---	---	---
Unknown	0	broad.mit.edu	37	8	17891350	17891350	+	IGR	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17891350delA								PCM1 (3895 upstream) : ASAH1 (22575 downstream)																																			---	---	---	---
EPB49	2039	broad.mit.edu	37	8	21931158	21931164	+	Intron	DEL	AAAAAAG	-	-	rs58985524		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:21931158_21931164delAAAAAAG	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)														---	---	---	---
CDCA2	157313	broad.mit.edu	37	8	25344643	25344643	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:25344643delT	uc003xep.1	+						PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_Intron|CDCA2_uc003xeq.1_Intron|CDCA2_uc003xer.1_Intron	NM_152562	NP_689775			cell division cycle associated 2						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	25708397	25708397	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:25708397delA	uc003xes.1	-						PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_Intron	NM_022659	NP_073150			early B-cell factor 2						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)														---	---	---	---
IKBKB	3551	broad.mit.edu	37	8	42176208	42176208	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42176208delT	uc003xow.1	+						IKBKB_uc010lxh.1_Intron|IKBKB_uc011lco.1_Intron|IKBKB_uc010lxj.1_Intron|IKBKB_uc003xox.1_Intron|IKBKB_uc011lcp.1_Intron|IKBKB_uc011lcq.1_Intron|IKBKB_uc010lxi.1_Intron|IKBKB_uc011lcr.1_Intron	NM_001556	NP_001547			inhibitor of nuclear factor kappa B kinase beta						anti-apoptosis|innate immune response|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 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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(3)|ovary(2)|lung(1)|skin(1)	7	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)													---	---	---	---
CHRNB3	1142	broad.mit.edu	37	8	42552905	42552905	+	Intron	DEL	G	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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	48586214	48586215	+	Intron	INS	-	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48586214_48586215insC	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	48733302	48733302	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48733302delT	uc003xqi.2	-	67	9371	c.9314delA	c.(9313-9315)AATfs	p.N3105fs	PRKDC_uc003xqj.2_Frame_Shift_Del_p.N3105fs|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3105	KIP-binding.|FAT.				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					---	---	---	---
ST18	9705	broad.mit.edu	37	8	53049330	53049331	+	Intron	INS	-	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:53049330_53049331insA	uc003xqz.2	-						ST18_uc011ldq.1_Intron|ST18_uc011ldr.1_Intron|ST18_uc011lds.1_Intron|ST18_uc003xra.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)																---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68208890	68208890	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68208890delT	uc003xxo.1	-							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)															---	---	---	---
Unknown	0	broad.mit.edu	37	8	82530375	82530375	+	IGR	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:82530375delT								FABP12 (86825 upstream) : IMPA1 (38776 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	8	89498122	89498122	+	IGR	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:89498122delA								MMP16 (158405 upstream) : None (None downstream)																																			---	---	---	---
DECR1	1666	broad.mit.edu	37	8	91056917	91056917	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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)															---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103289513	103289513	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:103289513delT	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)															---	---	---	---
EBAG9	9166	broad.mit.edu	37	8	110567215	110567215	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110567215delT	uc003ynf.2	+						EBAG9_uc010mcn.1_Intron|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)															---	---	---	---
DEPDC6	64798	broad.mit.edu	37	8	121061618	121061619	+	Intron	DEL	TT	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:121061618_121061619delTT	uc003yow.3	+						DEPDC6_uc011lid.1_Intron	NM_022783	NP_073620			DEP domain containing 6						intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding				0	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)															---	---	---	---
NDRG1	10397	broad.mit.edu	37	8	134262922	134262922	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:134262922delA	uc003yuh.2	-						NDRG1_uc003yuf.1_Intron|NDRG1_uc003yug.2_Intron|NDRG1_uc010mee.2_Intron|NDRG1_uc010mef.2_Intron|NDRG1_uc011ljh.1_Intron|NDRG1_uc011lji.1_Intron	NM_001135242	NP_001128714			N-myc downstream regulated 1						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)															---	---	---	---
JAK2	3717	broad.mit.edu	37	9	5091046	5091046	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:5091046delT	uc010mhm.2	+						JAK2_uc003ziw.2_Intron	NM_004972	NP_004963			Janus kinase 2						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				---	---	---	---
KIAA1797	54914	broad.mit.edu	37	9	20789722	20789724	+	Intron	DEL	TTT	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:20789722_20789724delTTT	uc003zog.1	+							NM_017794	NP_060264			hypothetical protein LOC54914							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)														---	---	---	---
CA9	768	broad.mit.edu	37	9	35677613	35677613	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35677613delA	uc003zxo.3	+						C9orf100_uc003zxl.2_5'Flank|CA9_uc003zxp.3_Intron	NM_001216	NP_001207			carbonic anhydrase IX precursor						one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			ovary(4)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79890720	79890720	+	Intron	DEL	C	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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																		---	---	---	---
DAPK1	1612	broad.mit.edu	37	9	90113866	90113866	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:90113866delT	uc004apc.2	+						DAPK1_uc004ape.2_Intron|DAPK1_uc004apd.2_Intron|DAPK1_uc011ltg.1_5'Flank|DAPK1_uc011lth.1_5'Flank	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				---	---	---	---
SECISBP2	79048	broad.mit.edu	37	9	91954659	91954659	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:91954659delT	uc004aqj.1	+						SECISBP2_uc011ltk.1_Intron|SECISBP2_uc004aqk.1_Intron|SECISBP2_uc010mqo.1_Intron|SECISBP2_uc011ltl.1_Intron	NM_024077	NP_076982			SECIS binding protein 2						translation	nucleus	mRNA 3'-UTR binding			ovary(2)|skin(1)	3																		---	---	---	---
PHF2	5253	broad.mit.edu	37	9	96422612	96422612	+	Frame_Shift_Del	DEL	A	-	-	rs76832193		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:96422612delA	uc004aub.2	+	12	1615	c.1468delA	c.(1468-1470)AAAfs	p.K490fs	PHF2_uc011lug.1_Frame_Shift_Del_p.K373fs|PHF2_uc004auc.2_5'Flank	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	490	Pro-rich.|Lys-rich.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 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		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)														---	---	---	---
C5	727	broad.mit.edu	37	9	123751833	123751833	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:123751833delT	uc004bkv.2	-							NM_001735	NP_001726			complement component 5 preproprotein						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)													---	---	---	---
C9orf98	158067	broad.mit.edu	37	9	135690206	135690206	+	Intron	DEL	A	-	-	rs140406073		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135690206delA	uc004cbu.1	-						C9orf98_uc010mzx.1_Intron|C9orf98_uc004cbv.1_Intron	NM_152572	NP_689785			putative adenylate kinase-like protein C9orf98							cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity				0				OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016)														---	---	---	---
NET1	10276	broad.mit.edu	37	10	5495688	5495689	+	Intron	DEL	AA	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5495688_5495689delAA	uc001iia.2	+						NET1_uc010qar.1_Intron|NET1_uc001iib.2_Intron|NET1_uc010qas.1_Intron	NM_001047160	NP_001040625			neuroepithelial cell transforming gene 1 isoform						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	10	13199671	13199672	+	IGR	INS	-	G	G	rs113702003		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:13199671_13199672insG								OPTN (19395 upstream) : MCM10 (3909 downstream)																																			---	---	---	---
CUL2	8453	broad.mit.edu	37	10	35320659	35320659	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:35320659delT	uc001ixv.2	-						CUL2_uc009xma.2_Intron|CUL2_uc010qer.1_Intron|CUL2_uc001ixw.2_Intron|CUL2_uc010qes.1_Intron	NM_003591	NP_003582			cullin 2						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																		---	---	---	---
FRMPD2	143162	broad.mit.edu	37	10	49400634	49400634	+	Intron	DEL	A	-	-	rs74923642		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:49400634delA	uc001jgi.2	-						FRMPD2_uc001jgh.2_Intron|FRMPD2_uc001jgj.2_Intron	NM_001018071	NP_001018081			FERM and PDZ domain containing 2 isoform 3						tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)														---	---	---	---
ASCC1	51008	broad.mit.edu	37	10	73887716	73887716	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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																		---	---	---	---
VDAC2	7417	broad.mit.edu	37	10	76990826	76990826	+	3'UTR	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:76990826delT	uc001jwz.2	+	10					VDAC2_uc010qld.1_3'UTR|VDAC2_uc001jxa.2_3'UTR|VDAC2_uc010qle.1_3'UTR	NM_003375	NP_003366			voltage-dependent anion channel 2							mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)											OREG0020276	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
TCTN3	26123	broad.mit.edu	37	10	97442251	97442251	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:97442251delA	uc001klb.3	-						TCTN3_uc001kla.3_Intron|TCTN3_uc010qoi.1_Intron	NM_015631	NP_056446			tectonic 3 isoform a precursor						apoptosis	integral to membrane					0		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)														---	---	---	---
Unknown	0	broad.mit.edu	37	10	98510007	98510007	+	IGR	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:98510007delA								PIK3AP1 (29728 upstream) : MIR607 (78419 downstream)																																			---	---	---	---
FAM45A	404636	broad.mit.edu	37	10	120879786	120879786	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:120879786delA	uc001ldw.2	+						FAM45A_uc010qsv.1_Intron|FAM45A_uc010qsw.1_Intron|FAM45A_uc010qsx.1_Intron|FAM45A_uc010qsy.1_Intron|FAM45A_uc010qsz.1_Intron	NM_207009	NP_996892			hypothetical protein LOC404636											ovary(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)														---	---	---	---
C10orf137	26098	broad.mit.edu	37	10	127437817	127437818	+	Intron	DEL	AA	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:127437817_127437818delAA	uc001liq.1	+						C10orf137_uc001lio.1_Intron|C10orf137_uc001lip.1_Intron|C10orf137_uc001lis.1_Intron|C10orf137_uc001lit.1_5'Flank	NM_015608	NP_056423			erythroid differentiation-related factor 1						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)																---	---	---	---
STIM1	6786	broad.mit.edu	37	11	3944023	3944023	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:3944023delA	uc001lyv.2	+						STIM1_uc009yef.2_Intron	NM_003156	NP_003147			stromal interaction molecule 1 precursor						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)														---	---	---	---
FAM160A2	84067	broad.mit.edu	37	11	6238994	6238994	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6238994delC	uc001mcl.3	-	9	2181	c.1822delG	c.(1822-1824)GAAfs	p.E608fs	FAM160A2_uc001mck.3_Frame_Shift_Del_p.E622fs|FAM160A2_uc001mcm.2_Frame_Shift_Del_p.E608fs	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 2	608					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2																		---	---	---	---
ANO5	203859	broad.mit.edu	37	11	22233000	22233000	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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																		---	---	---	---
WT1	7490	broad.mit.edu	37	11	32450245	32450245	+	Intron	DEL	G	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:32450245delG	uc001mtn.1	-						WT1_uc001mtl.1_Intron|WT1_uc001mtm.1_Intron|WT1_uc001mto.1_Intron|WT1_uc001mtp.1_Intron|WT1_uc001mtq.1_Intron|WT1_uc009yjs.1_Intron	NM_024426	NP_077744			Wilms tumor 1 isoform D						adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(231)	haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)					D|Mis|N|F|S	EWSR1	Wilms|desmoplastic small round cell tumor	Wilms			Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				---	---	---	---
KIAA0652	9776	broad.mit.edu	37	11	46666135	46666136	+	Intron	DEL	AT	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:46666135_46666136delAT	uc009yld.2	+						KIAA0652_uc001nda.2_Intron|KIAA0652_uc001ndb.2_Intron|KIAA0652_uc001ncz.2_Intron|KIAA0652_uc001ndc.2_Intron|KIAA0652_uc010rgv.1_Intron	NM_001142673	NP_001136145			autophagy-related protein 13 isoform 1						autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding				0				GBM - Glioblastoma multiforme(35;0.226)														---	---	---	---
Unknown	0	broad.mit.edu	37	11	59066132	59066133	+	IGR	INS	-	GATG	GATG			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:59066132_59066133insGATG								MPEG1 (85638 upstream) : OR5AN1 (65799 downstream)																																			---	---	---	---
ATL3	25923	broad.mit.edu	37	11	63399600	63399601	+	Intron	INS	-	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:63399600_63399601insT	uc001nxk.1	-						ATL3_uc010rms.1_Intron|ATL3_uc010rmr.1_Intron	NM_015459	NP_056274			atlastin 3						endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			pancreas(1)	1																		---	---	---	---
PACS1	55690	broad.mit.edu	37	11	65977671	65977671	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65977671delT	uc001oha.1	+						PACS1_uc001ogz.1_Intron	NM_018026	NP_060496			phosphofurin acidic cluster sorting protein 1						interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding			ovary(6)	6																		---	---	---	---
KDM2A	22992	broad.mit.edu	37	11	66983146	66983147	+	Intron	DEL	AA	-	-	rs113780245	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66983146_66983147delAA	uc001ojw.2	+						KDM2A_uc001ojx.2_Intron|KDM2A_uc001ojy.2_Intron	NM_012308	NP_036440			F-box and leucine-rich repeat protein 11						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																		---	---	---	---
CHKA	1119	broad.mit.edu	37	11	67829387	67829387	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67829387delA	uc001onj.2	-						CHKA_uc001onk.2_Intron|uc001onl.1_5'Flank	NM_001277	NP_001268			choline kinase alpha isoform a						lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity			ovary(1)|central_nervous_system(1)	2					Choline(DB00122)													---	---	---	---
PCF11	51585	broad.mit.edu	37	11	82894176	82894176	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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																		---	---	---	---
CWC15	51503	broad.mit.edu	37	11	94696474	94696475	+	3'UTR	INS	-	A	A	rs140103829	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:94696474_94696475insA	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)																---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	103029328	103029328	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:103029328delA	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)														---	---	---	---
ZNF259	8882	broad.mit.edu	37	11	116650308	116650308	+	Intron	DEL	A	-	-	rs36064778		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:116650308delA	uc001ppp.2	-						ZNF259_uc009yzd.2_Intron|ZNF259_uc001ppq.2_Intron	NM_003904	NP_003895			zinc finger protein 259						cell proliferation|signal transduction	cytoplasm|nucleolus					0	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)														---	---	---	---
VWA5A	4013	broad.mit.edu	37	11	123994642	123994642	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123994642delA	uc001pzu.2	+						VWA5A_uc001pzr.2_Intron|VWA5A_uc001pzs.2_Intron|VWA5A_uc010sae.1_Intron|VWA5A_uc001pzt.2_Intron	NM_001130142	NP_001123614			BCSC-1 isoform 1											upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
ARHGAP32	9743	broad.mit.edu	37	11	128855833	128855833	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:128855833delA	uc009zcp.2	-						ARHGAP32_uc009zcq.1_Intron|ARHGAP32_uc009zco.2_Intron|ARHGAP32_uc001qez.2_Intron|ARHGAP32_uc001qfb.2_3'UTR	NM_001142685	NP_001136157			Rho GTPase-activating protein isoform 1						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																		---	---	---	---
SSPN	8082	broad.mit.edu	37	12	26377487	26377487	+	Intron	DEL	T	-	-	rs77713712		TCGA-BR-6852-01	TCGA-BR-6852-01									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)																	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46240571	46240571	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46240571delA	uc001ros.1	+						ARID2_uc001ror.2_Intron|ARID2_uc009zkg.1_Intron|ARID2_uc009zkh.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)														---	---	---	---
PFKM	5213	broad.mit.edu	37	12	48539184	48539184	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:48539184delT	uc001rrc.2	+						PFKM_uc001rra.1_Intron|PFKM_uc001rrb.1_Intron|PFKM_uc001rrd.2_Intron|PFKM_uc001rre.1_Intron|PFKM_uc001rrg.1_Intron	NM_000289	NP_000280			phosphofructokinase, muscle						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																		---	---	---	---
LARP4	113251	broad.mit.edu	37	12	50824444	50824444	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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																		---	---	---	---
KRT79	338785	broad.mit.edu	37	12	53223675	53223675	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53223675delA	uc001sbb.2	-						KRT79_uc001sba.2_Intron	NM_175834	NP_787028			keratin 6L							keratin filament	structural molecule activity			ovary(2)|skin(2)	4																		---	---	---	---
NAP1L1	4673	broad.mit.edu	37	12	76442093	76442093	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:76442093delA	uc001sxw.2	-						NAP1L1_uc001sxv.2_Intron|NAP1L1_uc001sxz.2_3'UTR|NAP1L1_uc001sxx.2_3'UTR|NAP1L1_uc001sxy.2_3'UTR|NAP1L1_uc010sty.1_3'UTR|NAP1L1_uc010stz.1_3'UTR	NM_139207	NP_631946			nucleosome assembly protein 1-like 1						DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			ovary(1)|skin(1)	2		Colorectal(145;0.09)																---	---	---	---
PPFIA2	8499	broad.mit.edu	37	12	81655693	81655693	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:81655693delT	uc001szo.1	-						PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_Intron|PPFIA2_uc010suh.1_Intron|PPFIA2_uc010suf.1_Intron|PPFIA2_uc009zsh.2_Intron	NM_003625	NP_003616			PTPRF interacting protein alpha 2											ovary(3)|lung(2)|pancreas(1)	6																		---	---	---	---
GNPTAB	79158	broad.mit.edu	37	12	102147062	102147062	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:102147062delA	uc001tit.2	-							NM_024312	NP_077288			N-acetylglucosamine-1-phosphate transferase						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																		---	---	---	---
C12orf23	90488	broad.mit.edu	37	12	107360877	107360877	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:107360877delT	uc001tmb.2	+						C12orf23_uc001tmc.2_Intron|C12orf23_uc001tmd.2_5'UTR	NM_152261	NP_689474			hypothetical protein LOC90488							integral to membrane					0																		---	---	---	---
MYO1H	283446	broad.mit.edu	37	12	109845512	109845512	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109845512delT	uc010sxn.1	+							NM_001101421	NP_001094891			myosin 1H							myosin complex	motor activity				0																		---	---	---	---
COQ5	84274	broad.mit.edu	37	12	120960838	120960838	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120960838delA	uc001tyn.2	-						COQ5_uc001tyo.2_Intron|COQ5_uc010szj.1_Intron	NM_032314	NP_115690			coenzyme Q5 homolog, methyltransferase						ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
VPS33A	65082	broad.mit.edu	37	12	122716609	122716609	+	3'UTR	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:122716609delA	uc001ucd.2	-	13					VPS33A_uc001ucc.2_Intron	NM_022916	NP_075067			vacuolar protein sorting 33A						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)														---	---	---	---
KNTC1	9735	broad.mit.edu	37	12	123073397	123073397	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123073397delT	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)														---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124821593	124821593	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124821593delG	uc010tay.1	-	40	6007	c.5851delC	c.(5851-5853)CGGfs	p.R1951fs	NCOR2_uc010taz.1_Frame_Shift_Del_p.R1935fs|NCOR2_uc010tax.1_Frame_Shift_Del_p.R62fs	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 1	1952					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)														---	---	---	---
FRY	10129	broad.mit.edu	37	13	32836660	32836660	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32836660delA	uc001utx.2	+						FRY_uc010tdw.1_Intron|FRY_uc001uty.2_Intron|FRY_uc001utz.2_Intron|FRY_uc010tdx.1_5'Flank	NM_023037	NP_075463			furry homolog						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)														---	---	---	---
FAM48A	55578	broad.mit.edu	37	13	37605615	37605615	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:37605615delT	uc001uwg.2	-						FAM48A_uc010abt.2_Intron|FAM48A_uc001uwh.2_Intron|FAM48A_uc001uwi.2_Intron|FAM48A_uc001uwj.2_Intron|FAM48A_uc001uwk.2_Intron|FAM48A_uc010tes.1_Intron|FAM48A_uc001uwl.1_Intron	NM_001014286	NP_001014308			family with sequence similarity 48, member A						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)														---	---	---	---
FNDC3A	22862	broad.mit.edu	37	13	49761480	49761480	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:49761480delT	uc001vcm.2	+						FNDC3A_uc001vcn.2_Intron|FNDC3A_uc001vco.2_Intron|FNDC3A_uc001vcp.1_Intron|FNDC3A_uc001vcq.2_Intron	NM_001079673	NP_001073141			fibronectin type III domain containing 3A							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)														---	---	---	---
SETDB2	83852	broad.mit.edu	37	13	50057583	50057583	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:50057583delT	uc001vcz.2	+						SETDB2_uc001vcy.3_Intron|SETDB2_uc010adh.2_Intron|SETDB2_uc001vda.2_Intron	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)														---	---	---	---
TBC1D4	9882	broad.mit.edu	37	13	75894317	75894317	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:75894317delT	uc001vjl.1	-						TBC1D4_uc010aer.2_Intron|TBC1D4_uc010aes.2_Intron	NM_014832	NP_055647			TBC1 domain family, member 4							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)														---	---	---	---
Unknown	0	broad.mit.edu	37	14	21302182	21302182	+	IGR	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21302182delA								RNASE1 (31146 upstream) : RNASE3 (57380 downstream)																																			---	---	---	---
RABGGTA	5875	broad.mit.edu	37	14	24739363	24739364	+	Intron	INS	-	G	G	rs145834132	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24739363_24739364insG	uc001wof.2	-						RABGGTA_uc001woe.2_5'Flank|RABGGTA_uc001wog.2_Intron|RABGGTA_uc001woh.2_Intron|RABGGTA_uc001woi.2_Intron	NM_004581	NP_004572			Rab geranylgeranyltransferase alpha						visual perception		Rab geranylgeranyltransferase activity|zinc ion binding				0				GBM - Glioblastoma multiforme(265;0.0184)														---	---	---	---
SIP1	8487	broad.mit.edu	37	14	39597689	39597690	+	Intron	INS	-	T	T	rs149334273		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:39597689_39597690insT	uc001wuq.2	+						SIP1_uc001wur.2_Intron|SIP1_uc001wus.2_Intron|SIP1_uc010amx.2_Intron	NM_003616	NP_003607			SMN-interacting protein 1 isoform alpha						ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding				0	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0121)														---	---	---	---
CTAGE5	4253	broad.mit.edu	37	14	39771685	39771685	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:39771685delT	uc001wvg.3	+						CTAGE5_uc010tqe.1_Intron|CTAGE5_uc001wuz.3_Intron|CTAGE5_uc001wuy.3_Intron|CTAGE5_uc001wvb.3_Intron|CTAGE5_uc001wvc.3_Intron|CTAGE5_uc001wva.3_Intron|CTAGE5_uc001wve.1_Intron|CTAGE5_uc001wvh.3_Intron|CTAGE5_uc001wvf.3_Intron|CTAGE5_uc001wvi.3_Intron|CTAGE5_uc010amz.2_Intron|CTAGE5_uc001wvj.3_Intron	NM_005930	NP_005921			CTAGE family, member 5 isoform 1								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)														---	---	---	---
CDKN3	1033	broad.mit.edu	37	14	54886619	54886619	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:54886619delT	uc001xap.2	+						CDKN3_uc001xar.2_Intron|CDKN3_uc001xaq.2_Intron|CDKN3_uc001xas.1_Intron|CDKN3_uc010aoj.1_Intron	NM_005192	NP_005183			cyclin-dependent kinase inhibitor 3 isoform 1						cell cycle arrest|G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	perinuclear region of cytoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0																		---	---	---	---
GMFB	2764	broad.mit.edu	37	14	54944919	54944919	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:54944919delA	uc010tqz.1	-						GMFB_uc001xaw.1_Intron	NM_004124	NP_004115			glia maturation factor, beta						nervous system development|protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity|signal transducer activity				0																		---	---	---	---
WDHD1	11169	broad.mit.edu	37	14	55408168	55408168	+	3'UTR	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:55408168delA	uc001xbm.1	-	26					WDHD1_uc010aom.1_3'UTR|WDHD1_uc001xbn.1_3'UTR	NM_007086	NP_009017			WD repeat and HMG-box DNA binding protein 1							cytoplasm|nucleoplasm	DNA binding			skin(1)	1																		---	---	---	---
SFRS5	6430	broad.mit.edu	37	14	70237110	70237110	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:70237110delT	uc001xll.2	+						SFRS5_uc001xlm.2_RNA|SFRS5_uc001xln.1_3'UTR|SFRS5_uc001xlo.2_Intron|SFRS5_uc001xlp.2_Intron|SFRS5_uc001xlq.2_Intron	NM_006925	NP_008856			splicing factor, arginine/serine-rich 5						mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding				0				all cancers(60;0.00144)|BRCA - Breast invasive adenocarcinoma(234;0.0132)|OV - Ovarian serous cystadenocarcinoma(108;0.0154)														---	---	---	---
TTLL5	23093	broad.mit.edu	37	14	76200513	76200513	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:76200513delA	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)														---	---	---	---
TC2N	123036	broad.mit.edu	37	14	92258906	92258906	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92258906delA	uc001xzu.3	-						TC2N_uc001xzt.3_Intron|TC2N_uc010auc.2_Intron|TC2N_uc001xzv.3_Intron	NM_001128595	NP_001122067			tandem C2 domains, nuclear							nucleus				upper_aerodigestive_tract(1)	1				COAD - Colon adenocarcinoma(157;0.218)														---	---	---	---
LGMN	5641	broad.mit.edu	37	14	93185035	93185036	+	Intron	INS	-	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93185035_93185036insT	uc001yav.2	-						LGMN_uc001yat.2_Intron|LGMN_uc001yau.2_Intron|LGMN_uc001yaw.2_Intron|LGMN_uc010aul.2_Intron|LGMN_uc001yax.2_Intron|LGMN_uc001yay.2_Intron	NM_001008530	NP_001008530			legumain preproprotein						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)														---	---	---	---
DICER1	23405	broad.mit.edu	37	14	95582234	95582235	+	Intron	INS	-	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:95582234_95582235insA	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_				---	---	---	---
Unknown	0	broad.mit.edu	37	14	97235205	97235205	+	IGR	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:97235205delT								PAPOLA (201759 upstream) : VRK1 (28479 downstream)																																			---	---	---	---
TRPM1	4308	broad.mit.edu	37	15	31359898	31359898	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:31359898delT	uc001zfm.2	-						TRPM1_uc010azy.2_Intron|TRPM1_uc001zfl.2_Intron|uc010ubm.1_5'Flank|MIR211_hsa-mir-211|MI0000287_5'Flank|uc010ubn.1_5'Flank	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)														---	---	---	---
MAP1A	4130	broad.mit.edu	37	15	43814941	43814941	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43814941delA	uc001zrt.2	+	4	1737	c.1270delA	c.(1270-1272)AAAfs	p.K424fs		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	424	Lys-rich (basic).|9 X 3 AA repeats of K-K-[DE].			K -> P (in Ref. 1; AAB41132/AAB41133).		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)													---	---	---	---
SORD	6652	broad.mit.edu	37	15	45361047	45361054	+	Intron	DEL	TTTTTTTT	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:45361047_45361054delTTTTTTTT	uc001zul.3	+						SORD_uc010uel.1_Intron|SORD_uc001zum.3_Intron|SORD_uc010bdz.2_Intron	NM_003104	NP_003095			sorbitol dehydrogenase						fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding				0		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	NADH(DB00157)													---	---	---	---
DMXL2	23312	broad.mit.edu	37	15	51745633	51745633	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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)														---	---	---	---
NEDD4	4734	broad.mit.edu	37	15	56144502	56144503	+	Intron	DEL	AA	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:56144502_56144503delAA	uc002adj.2	-						NEDD4_uc002adl.2_Intron|NEDD4_uc002adi.2_Intron|NEDD4_uc010ugj.1_Intron|NEDD4_uc010bfm.2_Intron|NEDD4_uc002adk.2_Intron	NM_198400	NP_006145			neural precursor cell expressed, developmentally						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)														---	---	---	---
NARG2	79664	broad.mit.edu	37	15	60745782	60745782	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:60745782delA	uc002agp.2	-						NARG2_uc002ago.2_Intron|NARG2_uc002agq.3_Intron|NARG2_uc010bgk.2_Frame_Shift_Del_p.F382fs	NM_024611	NP_078887			NMDA receptor regulated 2 isoform a							nucleus				ovary(1)|lung(1)	2																		---	---	---	---
RAB8B	51762	broad.mit.edu	37	15	63552040	63552040	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63552040delT	uc002alz.2	+						RAB8B_uc010uih.1_Intron	NM_016530	NP_057614			RAB8B, member RAS oncogene family						protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			ovary(1)|kidney(1)	2																		---	---	---	---
TRIP4	9325	broad.mit.edu	37	15	64687574	64687574	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64687574delT	uc002anm.2	+							NM_016213	NP_057297			thyroid hormone receptor interactor 4						positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			ovary(1)|kidney(1)|skin(1)	3																		---	---	---	---
SIN3A	25942	broad.mit.edu	37	15	75702784	75702784	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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																		---	---	---	---
MKL2	57496	broad.mit.edu	37	16	14312561	14312561	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:14312561delT	uc010uza.1	+						MKL2_uc002dcg.2_Intron|MKL2_uc002dch.2_Intron|MKL2_uc010uzb.1_Intron	NM_014048	NP_054767			megakaryoblastic leukemia 2 protein						cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			ovary(3)|kidney(1)|pancreas(1)	5																		---	---	---	---
PARN	5073	broad.mit.edu	37	16	14721881	14721881	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:14721881delA	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																		---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18883764	18883764	+	Intron	DEL	A	-	-	rs117332168	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:18883764delA	uc002dfm.2	-						SMG1_uc010bwb.2_Intron	NM_015092	NP_055907			PI-3-kinase-related kinase SMG-1						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																		---	---	---	---
GP2	2813	broad.mit.edu	37	16	20335635	20335635	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20335635delT	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																		---	---	---	---
COG7	91949	broad.mit.edu	37	16	23456980	23456980	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23456980delA	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)														---	---	---	---
Unknown	0	broad.mit.edu	37	16	32176904	32176904	+	IGR	DEL	G	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:32176904delG								HERC2P4 (13030 upstream) : TP53TG3B (507937 downstream)																																			---	---	---	---
ITFG1	81533	broad.mit.edu	37	16	47292700	47292700	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:47292700delA	uc002eet.2	-						ITFG1_uc010vgg.1_Intron|ITFG1_uc010vgh.1_Intron	NM_030790	NP_110417			integrin alpha FG-GAP repeat containing 1							extracellular region|integral to membrane				ovary(1)|central_nervous_system(1)	2		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)																---	---	---	---
NOB1	28987	broad.mit.edu	37	16	69785968	69785969	+	Intron	DEL	AA	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:69785968_69785969delAA	uc002exs.2	-							NM_014062	NP_054781			nin one binding protein							nucleus	metal ion binding|protein binding				0																		---	---	---	---
LRRC50	123872	broad.mit.edu	37	16	84188523	84188523	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84188523delT	uc002fhl.3	+						LRRC50_uc010chi.1_Intron	NM_178452	NP_848547			leucine rich repeat containing 50						axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding				0														Kartagener_syndrome				---	---	---	---
VPS53	55275	broad.mit.edu	37	17	602754	602754	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:602754delA	uc002frn.2	-						VPS53_uc010cjo.1_Intron|VPS53_uc002frl.2_Intron|VPS53_uc002frm.2_Intron|VPS53_uc002fro.2_Intron|VPS53_uc010cjp.1_Intron	NM_018289	NP_060759			vacuolar protein sorting 53 isoform 2						protein transport	endosome membrane|Golgi apparatus					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)														---	---	---	---
ABR	29	broad.mit.edu	37	17	938695	938696	+	Intron	INS	-	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:938695_938696insT	uc002fsd.2	-						ABR_uc002fse.2_Intron|ABR_uc010vqg.1_Intron|ABR_uc002fsg.2_Intron|ABR_uc002fsh.1_Intron	NM_021962	NP_068781			active breakpoint cluster region-related						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)														---	---	---	---
MYH13	8735	broad.mit.edu	37	17	10216089	10216089	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10216089delT	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																		---	---	---	---
ALDH3A1	218	broad.mit.edu	37	17	19648218	19648219	+	Intron	DEL	CT	-	-	rs56234923		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19648218_19648219delCT	uc010cqu.2	-						ALDH3A1_uc010vzd.1_Intron|ALDH3A1_uc002gwj.2_Intron|ALDH3A1_uc010cqv.2_Intron|ALDH3A1_uc002gwk.2_Intron|ALDH3A1_uc002gwl.1_5'Flank	NM_001135168	NP_001128640			aldehyde dehydrogenase 3A1						cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase			ovary(1)|pancreas(1)	2	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)													---	---	---	---
Unknown	0	broad.mit.edu	37	17	21549760	21549760	+	IGR	DEL	G	-	-	rs112169839		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:21549760delG								C17orf51 (72029 upstream) : FAM27L (275610 downstream)																																			---	---	---	---
MYO1D	4642	broad.mit.edu	37	17	30981703	30981703	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30981703delT	uc002hho.1	-						MYO1D_uc002hhp.1_Intron	NM_015194	NP_056009			myosin ID							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)															---	---	---	---
TAF15	8148	broad.mit.edu	37	17	34165342	34165342	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:34165342delA	uc002hkd.2	+						TAF15_uc010ctw.1_Intron|TAF15_uc002hkc.2_Intron	NM_139215	NP_631961			TBP-associated factor 15 isoform 1						positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	bone(33)|lung(1)|skin(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)				T	TEC|CHN1|ZNF384	extraskeletal myxoid chondrosarcomas|ALL								---	---	---	---
MLX	6945	broad.mit.edu	37	17	40720380	40720380	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40720380delA	uc002iag.2	+						MLX_uc002iaf.2_Intron|MLX_uc002iah.2_Intron	NM_170607	NP_733752			transcription factor-like protein 4 isoform						energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding				0		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)														---	---	---	---
PSME3	10197	broad.mit.edu	37	17	40990333	40990333	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40990333delT	uc002ibr.2	+						PSME3_uc002ibp.2_Intron|PSME3_uc002ibq.2_Intron|PSME3_uc002ibs.2_Intron|PSME3_uc010whd.1_Intron	NM_005789	NP_005780			proteasome activator subunit 3 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|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)														---	---	---	---
NPEPPS	9520	broad.mit.edu	37	17	45691166	45691166	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:45691166delA	uc002ilr.3	+						NPEPPS_uc010wkt.1_Intron|NPEPPS_uc010wku.1_Intron|NPEPPS_uc010wkv.1_Intron|NPEPPS_uc002ils.1_Intron	NM_006310	NP_006301			aminopeptidase puromycin sensitive						proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding				0																		---	---	---	---
CACNA1G	8913	broad.mit.edu	37	17	48639187	48639188	+	Intron	DEL	GG	-	-	rs112792872		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48639187_48639188delGG	uc002irk.1	+						uc002irh.2_Intron|CACNA1G_uc002iri.1_Intron|CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Intron|CACNA1G_uc002irm.1_Intron|CACNA1G_uc002irn.1_Intron|CACNA1G_uc002iro.1_Intron|CACNA1G_uc002irp.1_Intron|CACNA1G_uc002irq.1_Intron|CACNA1G_uc002irr.1_Intron|CACNA1G_uc002irs.1_Intron|CACNA1G_uc002irt.1_Intron|CACNA1G_uc002irv.1_Intron|CACNA1G_uc002irw.1_Intron|CACNA1G_uc002iru.1_Intron	NM_018896	NP_061496			voltage-dependent calcium channel alpha 1G						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)													---	---	---	---
CA10	56934	broad.mit.edu	37	17	50212438	50212438	+	Intron	DEL	C	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:50212438delC	uc002itw.3	-						CA10_uc002itv.3_Intron|CA10_uc002itx.3_Intron|CA10_uc002ity.3_Intron|CA10_uc002itz.2_Intron	NM_020178	NP_064563			carbonic anhydrase X						brain development					ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)															---	---	---	---
SMURF2	64750	broad.mit.edu	37	17	62541848	62541855	+	3'UTR	DEL	AAAAGGGG	-	-	rs59188589		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62541848_62541855delAAAAGGGG	uc002jep.1	-	19					SMURF2_uc002jeq.1_3'UTR|SMURF2_uc002jer.1_3'UTR	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)															---	---	---	---
Unknown	0	broad.mit.edu	37	18	12303771	12303771	+	IGR	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:12303771delA								CIDEA (26179 upstream) : TUBB6 (4469 downstream)																																			---	---	---	---
TXNL1	9352	broad.mit.edu	37	18	54278334	54278334	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									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	65042307	65042309	+	IGR	DEL	TTT	-	-	rs75002100		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:65042307_65042309delTTT								CDH19 (771091 upstream) : DSEL (131510 downstream)																																			---	---	---	---
SHC2	25759	broad.mit.edu	37	19	438806	438806	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:438806delC	uc002loq.3	-	4	632	c.632delG	c.(631-633)GGCfs	p.G211fs	SHC2_uc002lop.3_5'UTR	NM_012435	NP_036567	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing)	211	PID.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol					0		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)														---	---	---	---
GRIN3B	116444	broad.mit.edu	37	19	1004499	1004499	+	Intron	DEL	C	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1004499delC	uc002lqo.1	+							NM_138690	NP_619635			glutamate receptor, ionotropic,						ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity				0		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)													---	---	---	---
CCDC94	55702	broad.mit.edu	37	19	4261827	4261829	+	Intron	DEL	AAA	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4261827_4261829delAAA	uc002lzv.3	+							NM_018074	NP_060544			coiled-coil domain containing 94												0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)														---	---	---	---
GPR108	56927	broad.mit.edu	37	19	6735981	6735981	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6735981delA	uc002mfp.2	-						GPR108_uc002mfn.2_Intron|GPR108_uc002mfo.3_Intron|GPR108_uc010duw.2_Intron	NM_001080452	NP_001073921			G protein-coupled receptor 108 isoform 1							integral to membrane					0																OREG0025202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
Unknown	0	broad.mit.edu	37	19	12757294	12757294	+	IGR	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12757294delA								ZNF791 (16618 upstream) : MAN2B1 (28 downstream)																																			---	---	---	---
CYP4F22	126410	broad.mit.edu	37	19	15648967	15648967	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15648967delT	uc002nbh.3	+							NM_173483	NP_775754			cytochrome P450, family 4, subfamily F,							endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			ovary(1)|pancreas(1)	2																		---	---	---	---
MYO9B	4650	broad.mit.edu	37	19	17315960	17315961	+	Intron	DEL	AA	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17315960_17315961delAA	uc010eak.2	+						MYO9B_uc002nfi.2_Intron|MYO9B_uc002nfj.1_Intron|MYO9B_uc002nfl.1_Intron|MYO9B_uc002nfm.1_5'Flank	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																		---	---	---	---
UNC13A	23025	broad.mit.edu	37	19	17722795	17722795	+	Intron	DEL	G	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17722795delG	uc002nhd.2	-							NM_001080421	NP_001073890			unc-13 homolog A						exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3																		---	---	---	---
RPS16	6217	broad.mit.edu	37	19	39926165	39926166	+	Intron	INS	-	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39926165_39926166insC	uc002olk.2	-						RPS16_uc002oll.2_Intron|RPS16_uc002olm.2_Intron	NM_001020	NP_001011			ribosomal protein S16						endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			skin(1)	1	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;4.14e-26)|all cancers(26;2.68e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)															---	---	---	---
TGFB1	7040	broad.mit.edu	37	19	41836966	41836967	+	Frame_Shift_Ins	INS	-	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41836966_41836967insT	uc002oqh.1	-	7	2030_2031	c.1163_1164insA	c.(1162-1164)AAGfs	p.K388fs	CYP2F1_uc010xvw.1_Intron	NM_000660	NP_000651	P01137	TGFB1_HUMAN	transforming growth factor, beta 1 precursor	388					active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding				0					Hyaluronidase(DB00070)													---	---	---	---
CLEC11A	6320	broad.mit.edu	37	19	51227553	51227553	+	Intron	DEL	C	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51227553delC	uc002psy.2	+							NM_002975	NP_002966			stem cell growth factor precursor						positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding			ovary(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)												OREG0025643	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
MIR520H	574493	broad.mit.edu	37	19	54244751	54244751	+	5'Flank	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54244751delT	hsa-mir-520h|MI0003175	+						uc010yeb.1_5'Flank																	0																		---	---	---	---
TNNT1	7138	broad.mit.edu	37	19	55646782	55646783	+	Intron	INS	-	T	T	rs112550851		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55646782_55646783insT	uc002qjb.3	-						TNNT1_uc002qiz.3_Intron|TNNT1_uc002qja.3_Intron|TNNT1_uc002qjc.3_Intron|TNNT1_uc002qje.3_Intron|TNNT1_uc002qjd.3_Intron	NM_003283	NP_003274			troponin T1, skeletal, slow isoform a						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)														---	---	---	---
Unknown	0	broad.mit.edu	37	20	25900372	25900372	+	IGR	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:25900372delA								FAM182B (51586 upstream) : LOC100134868 (90063 downstream)																																			---	---	---	---
RBL1	5933	broad.mit.edu	37	20	35696592	35696592	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35696592delA	uc002xgi.2	-						RBL1_uc010zvt.1_Intron|RBL1_uc002xgj.1_Intron|RBL1_uc010gfv.1_Intron	NM_002895	NP_002886			retinoblastoma-like protein 1 isoform a						cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|skin(3)|ovary(2)	10		Myeloproliferative disorder(115;0.00878)																---	---	---	---
C20orf132	140699	broad.mit.edu	37	20	35740577	35740578	+	Intron	INS	-	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35740577_35740578insA	uc010zvu.1	-						C20orf132_uc002xgk.2_Intron	NM_152503	NP_689716			hypothetical protein LOC140699 isoform 1												0		Myeloproliferative disorder(115;0.00878)																---	---	---	---
NCOA3	8202	broad.mit.edu	37	20	46281062	46281062	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:46281062delA	uc002xtk.2	+						NCOA3_uc002xtl.2_Intron|NCOA3_uc002xtm.2_Intron|NCOA3_uc002xtn.2_Intron|NCOA3_uc010zyc.1_Intron	NM_181659	NP_858045			nuclear receptor coactivator 3 isoform a						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																		---	---	---	---
RPS21	6227	broad.mit.edu	37	20	60963180	60963181	+	Intron	INS	-	C	C	rs140197118	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:60963180_60963181insC	uc002ycr.2	+						RPS21_uc002ycs.2_Intron|RPS21_uc002yct.2_3'UTR|RPS21_uc002ycu.2_Intron	NM_001024	NP_001015			ribosomal protein S21						endocrine pancreas development|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 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein N-terminus binding|structural constituent of ribosome				0	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)															---	---	---	---
SLC17A9	63910	broad.mit.edu	37	20	61588533	61588533	+	Intron	DEL	C	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61588533delC	uc002yea.3	+						SLC17A9_uc002ydz.3_Intron|SLC17A9_uc011aap.1_Intron	NM_022082	NP_071365			vesicular nucleotide transporter SLC17A9						exocytosis|transmembrane transport	integral to membrane	transporter activity			ovary(1)|skin(1)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	21	21797194	21797194	+	IGR	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:21797194delT								None (None upstream) : C21orf131 (317720 downstream)																																			---	---	---	---
CBS	875	broad.mit.edu	37	21	44485434	44485434	+	Intron	DEL	C	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:44485434delC	uc002zcu.2	-						CBS_uc002zcs.1_Intron|CBS_uc002zct.2_Intron|CBS_uc002zcw.3_Intron|CBS_uc002zcv.2_Intron	NM_000071	NP_000062			cystathionine-beta-synthase						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)													---	---	---	---
BCR	613	broad.mit.edu	37	22	23634615	23634615	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:23634615delT	uc002zww.2	+						BCR_uc002zwx.2_Intron|BCR_uc011aiy.1_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								---	---	---	---
POLA1	5422	broad.mit.edu	37	X	24742415	24742415	+	Intron	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:24742415delT	uc004dbl.2	+						POLA1_uc004dbm.2_Intron|POLA1_uc004dbn.2_Intron	NM_016937	NP_058633			DNA-directed DNA polymerase alpha 1						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)													---	---	---	---
RPGR	6103	broad.mit.edu	37	X	38169792	38169792	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:38169792delA	uc004ded.1	-						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																		---	---	---	---
CASK	8573	broad.mit.edu	37	X	41524466	41524467	+	Intron	INS	-	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:41524466_41524467insA	uc004dfl.3	-						CASK_uc004dfk.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron	NM_003688	NP_003679			calcium/calmodulin-dependent serine protein						cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			ovary(3)|lung(2)|stomach(1)	6																		---	---	---	---
WNK3	65267	broad.mit.edu	37	X	54228636	54228636	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54228636delA	uc004dtd.1	-						WNK3_uc004dtc.1_Intron	NM_001002838	NP_001002838			WNK lysine deficient protein kinase 3 isoform 2						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																		---	---	---	---
TAF1	6872	broad.mit.edu	37	X	70587704	70587705	+	Intron	DEL	AG	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70587704_70587705delAG	uc004dzu.3	+						BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Intron	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	118012394	118012394	+	IGR	DEL	T	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:118012394delT								ZCCHC12 (51464 upstream) : LONRF3 (96319 downstream)																																			---	---	---	---
AIFM1	9131	broad.mit.edu	37	X	129272440	129272440	+	Intron	DEL	A	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129272440delA	uc004evg.2	-						AIFM1_uc011mur.1_5'Flank|AIFM1_uc011mus.1_Intron|AIFM1_uc004evh.2_Intron|AIFM1_uc004evi.2_Intron|AIFM1_uc004evk.2_Intron	NM_004208	NP_004199			programmed cell death 8 isoform 1						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(4)|central_nervous_system(1)	5																		---	---	---	---
ZNF185	7739	broad.mit.edu	37	X	152091356	152091356	+	Intron	DEL	G	-	-			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152091356delG	uc010ntv.1	+						ZNF185_uc011myg.1_Intron|ZNF185_uc011myh.1_Intron|ZNF185_uc011myi.1_Intron|ZNF185_uc011myj.1_Intron|ZNF185_uc011myk.1_Intron|ZNF185_uc004fgw.3_Intron|ZNF185_uc004fgu.2_Intron|ZNF185_uc004fgv.2_Intron	NM_007150	NP_009081			zinc finger protein 185							cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
SAMD11	148398	broad.mit.edu	37	1	879452	879452	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:879452C>T	uc001abw.1	+	14	2045	c.1965C>T	c.(1963-1965)GCC>GCT	p.A655A	SAMD11_uc001abx.1_Silent_p.A518A	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	655						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	980635	980635	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:980635C>T	uc001ack.1	+	13	2399	c.2349C>T	c.(2347-2349)GGC>GGT	p.G783G		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	783					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)														---	---	---	---
PRDM16	63976	broad.mit.edu	37	1	3322154	3322154	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:3322154C>T	uc001akf.2	+	8	1208	c.1128C>T	c.(1126-1128)GCC>GCT	p.A376A	PRDM16_uc001akc.2_Silent_p.A376A|PRDM16_uc001akd.2_Silent_p.A376A|PRDM16_uc001ake.2_Silent_p.A376A|PRDM16_uc009vlh.2_Silent_p.A77A	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	376	C2H2-type 5.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)				T	EVI1	MDS|AML								---	---	---	---
GPR153	387509	broad.mit.edu	37	1	6314182	6314182	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6314182C>T	uc001amp.1	-	3	642	c.382G>A	c.(382-384)GTG>ATG	p.V128M		NM_207370	NP_997253	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	128	Helical; Name=4; (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)														---	---	---	---
RERE	473	broad.mit.edu	37	1	8419854	8419854	+	Silent	SNP	T	C	C	rs149634880	byFrequency	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:8419854T>C	uc001ape.2	-	20	4398	c.3588A>G	c.(3586-3588)CGA>CGG	p.R1196R	RERE_uc001apf.2_Silent_p.R1196R|RERE_uc001apd.2_Silent_p.R642R	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1196	Arg/Glu-rich (mixed charge).|Potential.				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)														---	---	---	---
TMEM201	199953	broad.mit.edu	37	1	9655959	9655959	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:9655959C>T	uc001apz.2	+	2	137	c.125C>T	c.(124-126)ACG>ATG	p.T42M	TMEM201_uc001apy.2_Missense_Mutation_p.T42M	NM_001130924	NP_001124396	Q5SNT2	TM201_HUMAN	transmembrane protein 201 isoform 1	42						integral to membrane|nuclear inner membrane					0	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|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)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)														---	---	---	---
MTOR	2475	broad.mit.edu	37	1	11184566	11184566	+	Silent	SNP	C	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11184566C>G	uc001asd.2	-	47	6772	c.6651G>C	c.(6649-6651)CGG>CGC	p.R2217R	MTOR_uc001asc.2_Silent_p.R422R	NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	2217	PI3K/PI4K.				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																		---	---	---	---
MAD2L2	10459	broad.mit.edu	37	1	11735241	11735241	+	Intron	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11735241A>C	uc001asp.2	-						MAD2L2_uc009vnc.2_Intron|MAD2L2_uc001asq.3_Intron	NM_006341	NP_006332			MAD2 homolog						cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding				0	Ovarian(185;0.249)	Lung NSC(185;4.15e-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;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
MFN2	9927	broad.mit.edu	37	1	12052744	12052744	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12052744G>T	uc001atn.3	+	4	761	c.308G>T	c.(307-309)GGC>GTC	p.G103V	MFN2_uc009vni.2_Missense_Mutation_p.G103V	NM_014874	NP_055689	O95140	MFN2_HUMAN	mitofusin 2	103	Cytoplasmic (Potential).|GTP (Probable).				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)	1	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;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)														---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12328778	12328778	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12328778G>A	uc001atv.2	+	16	1958	c.1817G>A	c.(1816-1818)GGC>GAC	p.G606D	VPS13D_uc001atw.2_Missense_Mutation_p.G606D	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	606					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)														---	---	---	---
KAZ	23254	broad.mit.edu	37	1	15370596	15370596	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:15370596C>T	uc001avm.3	+	4	948	c.667C>T	c.(667-669)CGC>TGC	p.R223C	KAZ_uc009vog.1_Missense_Mutation_p.R223C|KAZ_uc010obj.1_Missense_Mutation_p.R223C|KAZ_uc001avo.2_Missense_Mutation_p.R217C|KAZ_uc001avp.2_Missense_Mutation_p.R129C|KAZ_uc001avq.2_Missense_Mutation_p.R129C|KAZ_uc001avr.2_Missense_Mutation_p.R126C	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	kazrin isoform E	223	Interaction with PPL.|Potential.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus					0																		---	---	---	---
FBLIM1	54751	broad.mit.edu	37	1	16091512	16091512	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16091512T>C	uc001axd.1	+	4	477	c.34T>C	c.(34-36)TCT>CCT	p.S12P	FBLIM1_uc001axe.1_Missense_Mutation_p.S12P|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axg.1_Missense_Mutation_p.S12P|FBLIM1_uc001axh.1_Missense_Mutation_p.S12P|FBLIM1_uc001axi.1_Missense_Mutation_p.S12P	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	filamin-binding LIM protein-1 isoform a	12	Filamin-binding.				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	16265849	16265849	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16265849G>A	uc001axk.1	+	15	11126	c.10922G>A	c.(10921-10923)CGC>CAC	p.R3641H	SPEN_uc010obp.1_Missense_Mutation_p.R3600H	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	3641	SPOC.				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)														---	---	---	---
ARHGEF10L	55160	broad.mit.edu	37	1	18014124	18014124	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:18014124G>A	uc001ban.2	+	27	3225	c.3066G>A	c.(3064-3066)GCG>GCA	p.A1022A	ARHGEF10L_uc009vpe.1_Silent_p.A983A|ARHGEF10L_uc001bao.2_Silent_p.A983A|ARHGEF10L_uc001bap.2_Silent_p.A978A|ARHGEF10L_uc001baq.2_Silent_p.A783A|ARHGEF10L_uc010ocs.1_Silent_p.A795A|ARHGEF10L_uc001bar.2_Silent_p.A725A|ARHGEF10L_uc009vpf.2_RNA	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	1022					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	19404515	19404515	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19404515G>A	uc001bbi.2	-	104	15283	c.15279C>T	c.(15277-15279)TCC>TCT	p.S5093S	UBR4_uc001bbe.1_5'Flank|UBR4_uc001bbf.2_5'UTR|UBR4_uc010ocv.1_Silent_p.S616S|UBR4_uc009vph.2_Silent_p.S727S|UBR4_uc010ocw.1_Silent_p.S757S|UBR4_uc001bbg.2_Silent_p.S804S|UBR4_uc001bbh.2_Silent_p.S802S	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	5093					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)														---	---	---	---
KIF17	57576	broad.mit.edu	37	1	20996969	20996969	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:20996969G>T	uc001bdr.3	-	13	2856	c.2738C>A	c.(2737-2739)CCA>CAA	p.P913Q	KIF17_uc001bdp.3_Missense_Mutation_p.P190Q|KIF17_uc001bdq.3_Missense_Mutation_p.P191Q|KIF17_uc009vpx.2_Missense_Mutation_p.P283Q|KIF17_uc001bds.3_Missense_Mutation_p.P912Q	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	913					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)														---	---	---	---
KIF17	57576	broad.mit.edu	37	1	20998683	20998683	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:20998683C>T	uc001bdr.3	-	12	2588	c.2470G>A	c.(2470-2472)GCA>ACA	p.A824T	KIF17_uc001bdp.3_Missense_Mutation_p.A102T|KIF17_uc001bdq.3_Missense_Mutation_p.A102T|KIF17_uc009vpx.2_Missense_Mutation_p.A194T|KIF17_uc001bds.3_Missense_Mutation_p.A824T	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	824	Potential.				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)														---	---	---	---
RAP1GAP	5909	broad.mit.edu	37	1	21929337	21929337	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21929337C>T	uc001bex.2	-	19	1756	c.1498G>A	c.(1498-1500)GCC>ACC	p.A500T	RAP1GAP_uc001bev.2_Missense_Mutation_p.A585T|RAP1GAP_uc001bew.2_Missense_Mutation_p.A564T|RAP1GAP_uc001bey.2_Missense_Mutation_p.A526T	NM_002885	NP_002876	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein isoform c	500					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)														---	---	---	---
HTR1D	3352	broad.mit.edu	37	1	23520100	23520100	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23520100C>A	uc001bgn.2	-	1	1123	c.613G>T	c.(613-615)GCC>TCC	p.A205S		NM_000864	NP_000855	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D	205	Helical; Name=5; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)													---	---	---	---
HNRNPR	10236	broad.mit.edu	37	1	23637569	23637569	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23637569T>C	uc001bgr.3	-						HNRNPR_uc001bgo.2_Intron|HNRNPR_uc001bgp.3_Intron|HNRNPR_uc009vqk.2_Intron|HNRNPR_uc001bgs.3_Intron|HNRNPR_uc010odw.1_Intron|HNRNPR_uc010odx.1_Intron|HNRNPR_uc009vql.2_Intron	NM_005826	NP_005817			heterogeneous nuclear ribonucleoprotein R							catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)														---	---	---	---
GRHL3	57822	broad.mit.edu	37	1	24663276	24663276	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24663276C>T	uc001biy.2	+	4	632	c.586C>T	c.(586-588)CGC>TGC	p.R196C	GRHL3_uc001bix.2_Missense_Mutation_p.R191C|GRHL3_uc001biz.2_Missense_Mutation_p.R98C	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	191					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)														---	---	---	---
SRRM1	10250	broad.mit.edu	37	1	24995891	24995891	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24995891G>A	uc001bjm.2	+	14	2241	c.2017G>A	c.(2017-2019)GCC>ACC	p.A673T	SRRM1_uc010oel.1_Missense_Mutation_p.A685T|SRRM1_uc009vrh.1_Missense_Mutation_p.A646T|SRRM1_uc009vri.1_Missense_Mutation_p.A602T	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	673	Pro-rich.|Necessary for speckles and matrix localization.|Arg-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)														---	---	---	---
SLC9A1	6548	broad.mit.edu	37	1	27436018	27436018	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27436018G>A	uc001bnm.2	-	3	1690	c.1064C>T	c.(1063-1065)GCG>GTG	p.A355V	SLC9A1_uc010ofk.1_Missense_Mutation_p.A16V|SLC9A1_uc001bnn.2_Missense_Mutation_p.A355V	NM_003047	NP_003038	P19634	SL9A1_HUMAN	solute carrier family 9, isoform A1	355	Helical; Name=M9; (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)													---	---	---	---
WDTC1	23038	broad.mit.edu	37	1	27614178	27614178	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27614178C>G	uc009vst.2	+	6	840	c.305C>G	c.(304-306)GCT>GGT	p.A102G	WDTC1_uc001bno.2_Missense_Mutation_p.A102G|WDTC1_uc001bnp.1_RNA	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	102	WD 2.						protein binding			ovary(1)|central_nervous_system(1)	2		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)														---	---	---	---
RNF19B	127544	broad.mit.edu	37	1	33402626	33402626	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:33402626A>G	uc010oho.1	-	9	1980	c.1980T>C	c.(1978-1980)CCT>CCC	p.P660P	RNF19B_uc001bwm.3_3'UTR|RNF19B_uc010ohp.1_Silent_p.P659P	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B isoform a	660						integral to membrane	ligase activity|protein binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)																---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34076667	34076667	+	Missense_Mutation	SNP	C	T	T	rs142970674	byFrequency	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:34076667C>T	uc001bxn.1	-	41	6226	c.6197G>A	c.(6196-6198)CGG>CAG	p.R2066Q	CSMD2_uc001bxm.1_Missense_Mutation_p.R2106Q|CSMD2_uc001bxo.1_Missense_Mutation_p.R979Q	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2066	CUB 12.|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)																---	---	---	---
GJA4	2701	broad.mit.edu	37	1	35259929	35259929	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:35259929C>A	uc001bya.2	+	2	203	c.115C>A	c.(115-117)CTG>ATG	p.L39M	GJA4_uc009vul.2_Missense_Mutation_p.L115M|GJA4_uc009vum.1_Missense_Mutation_p.L39M	NM_002060	NP_002051	P35212	CXA4_HUMAN	connexin 37	39	Helical; (Potential).				cell-cell junction assembly	integral to plasma membrane				central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)																---	---	---	---
TFAP2E	339488	broad.mit.edu	37	1	36040586	36040586	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36040586T>A	uc010ohy.1	+	3	755	c.547T>A	c.(547-549)TCC>ACC	p.S183T	PSMB2_uc001bzd.1_Intron	NM_178548	NP_848643	Q6VUC0	AP2E_HUMAN	transcription factor AP-2 epsilon (activating	183						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)																---	---	---	---
OSCP1	127700	broad.mit.edu	37	1	36915870	36915870	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36915870T>G	uc001cap.2	-	1	183	c.101A>C	c.(100-102)AAG>ACG	p.K34T	OSCP1_uc001caq.2_Missense_Mutation_p.K34T|OSCP1_uc001car.2_Missense_Mutation_p.K34T	NM_145047	NP_659484	Q8WVF1	OSCP1_HUMAN	oxidored-nitro domain-containing protein isoform	34					transport	basal plasma membrane				ovary(2)|central_nervous_system(1)|pancreas(1)	4																OREG0013369	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
RHBDL2	54933	broad.mit.edu	37	1	39358878	39358878	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39358878G>T	uc001ccu.1	-	6	856	c.628C>A	c.(628-630)CCT>ACT	p.P210T	RHBDL2_uc010oin.1_Missense_Mutation_p.P210T|RHBDL2_uc010oio.1_Missense_Mutation_p.P290T	NM_017821	NP_060291	Q9NX52	RHBL2_HUMAN	rhomboid protease 2	210					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity				0	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)															---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39823348	39823348	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39823348G>A	uc010oiu.1	+	9	7177	c.7046G>A	c.(7045-7047)AGC>AAC	p.S2349N	MACF1_uc010ois.1_Missense_Mutation_p.S1847N|MACF1_uc001cda.1_Missense_Mutation_p.S1755N|MACF1_uc001cdc.1_Missense_Mutation_p.S934N|MACF1_uc001cdb.1_Missense_Mutation_p.S934N	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	3914	Spectrin 1.				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	39919406	39919406	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39919406C>T	uc010oiu.1	+	53	16230	c.16099C>T	c.(16099-16101)CGA>TGA	p.R5367*	MACF1_uc010ois.1_Nonsense_Mutation_p.R4865*	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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)															---	---	---	---
DEM1	64789	broad.mit.edu	37	1	40980785	40980785	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40980785G>A	uc001cfp.2	+	3	774	c.569G>A	c.(568-570)GGG>GAG	p.G190E	DEM1_uc001cfq.2_Missense_Mutation_p.G190E|DEM1_uc001cfr.2_Missense_Mutation_p.G190E|DEM1_uc001cfs.2_Missense_Mutation_p.G190E	NM_022774	NP_073611	Q9H790	EXO5_HUMAN	defects in morphology 1 homolog	190							DNA binding|exonuclease activity				0																		---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	41979370	41979370	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:41979370G>T	uc001cgz.3	-	8	6735	c.5522C>A	c.(5521-5523)GCT>GAT	p.A1841D	HIVEP3_uc001cha.3_Missense_Mutation_p.A1841D|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1841	Acidic 3.				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)																---	---	---	---
KIAA0467	23334	broad.mit.edu	37	1	43903006	43903006	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43903006G>A	uc001cjk.1	+							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)																---	---	---	---
ST3GAL3	6487	broad.mit.edu	37	1	44303981	44303981	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44303981C>T	uc001ckc.2	+	5	477	c.300C>T	c.(298-300)CCC>CCT	p.P100P	ST3GAL3_uc009vwu.1_RNA|ST3GAL3_uc010okj.1_RNA|ST3GAL3_uc001cjz.2_Silent_p.P115P|ST3GAL3_uc001cka.2_Silent_p.P84P|ST3GAL3_uc001ckb.2_Silent_p.P169P|ST3GAL3_uc001ckd.2_Silent_p.P154P|ST3GAL3_uc001cke.2_Silent_p.P84P|ST3GAL3_uc001ckf.2_Silent_p.P138P|ST3GAL3_uc001ckg.2_Silent_p.P100P|ST3GAL3_uc001ckh.2_Silent_p.P115P|ST3GAL3_uc001cki.2_Silent_p.P100P|ST3GAL3_uc009vwv.2_Silent_p.P100P|ST3GAL3_uc001ckj.2_RNA|ST3GAL3_uc009vww.2_RNA|ST3GAL3_uc001ckk.2_Intron|ST3GAL3_uc009vwy.2_Silent_p.P6P|ST3GAL3_uc009vwx.2_RNA|ST3GAL3_uc001ckm.2_Silent_p.P99P|ST3GAL3_uc001ckl.2_Silent_p.P100P|ST3GAL3_uc009vwz.2_5'UTR|ST3GAL3_uc001ckn.2_RNA|ST3GAL3_uc001ckp.2_Silent_p.P99P|ST3GAL3_uc001cko.2_Silent_p.P84P|ST3GAL3_uc009vxa.2_Intron|ST3GAL3_uc001ckq.2_Silent_p.P84P|ST3GAL3_uc001ckr.2_Intron|ST3GAL3_uc009vxb.2_Silent_p.P84P	NM_006279	NP_006270	Q11203	SIAT6_HUMAN	sialyltransferase 6 isoform j	100	Lumenal (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			ovary(3)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)																---	---	---	---
POMGNT1	55624	broad.mit.edu	37	1	46661685	46661685	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46661685G>A	uc001cpe.2	-	5	583	c.419C>T	c.(418-420)ACG>ATG	p.T140M	POMGNT1_uc010olx.1_Missense_Mutation_p.T118M|POMGNT1_uc010oly.1_RNA|POMGNT1_uc010olz.1_Translation_Start_Site|POMGNT1_uc001cpg.2_Missense_Mutation_p.T140M|POMGNT1_uc001cpf.2_Translation_Start_Site|POMGNT1_uc001cpj.2_Missense_Mutation_p.T124M	NM_017739	NP_060209	Q8WZA1	PMGT1_HUMAN	O-linked mannose	140	Lumenal (Potential).				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)																	---	---	---	---
CYP4A11	1579	broad.mit.edu	37	1	47401267	47401267	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47401267T>C	uc001cqp.3	-	5	614	c.563A>G	c.(562-564)CAC>CGC	p.H188R	CYP4A11_uc001cqq.2_Missense_Mutation_p.H188R|CYP4A11_uc010omm.1_RNA	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A,	188					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			ovary(2)|skin(2)	4					NADH(DB00157)													---	---	---	---
CYP4X1	260293	broad.mit.edu	37	1	47512186	47512186	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47512186C>T	uc001cqt.2	+	9	1371	c.1121C>T	c.(1120-1122)ACG>ATG	p.T374M	CYP4X1_uc001cqr.2_Missense_Mutation_p.T373M|CYP4X1_uc001cqs.2_Missense_Mutation_p.T309M	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X,	374						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)|skin(1)	2																		---	---	---	---
ECHDC2	55268	broad.mit.edu	37	1	53364883	53364883	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53364883A>G	uc001cup.3	-	8	962	c.716T>C	c.(715-717)GTG>GCG	p.V239A	ECHDC2_uc001cun.2_Missense_Mutation_p.V162A|ECHDC2_uc001cuo.3_Missense_Mutation_p.V208A|ECHDC2_uc010onk.1_Missense_Mutation_p.V193A	NM_018281	NP_060751	Q86YB7	ECHD2_HUMAN	enoyl Coenzyme A hydratase domain containing 2	239					fatty acid metabolic process	mitochondrion	lyase activity			central_nervous_system(1)	1																		---	---	---	---
ECHDC2	55268	broad.mit.edu	37	1	53377251	53377251	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53377251G>A	uc001cup.3	-	3	510	c.264C>T	c.(262-264)GGC>GGT	p.G88G	ECHDC2_uc001cun.2_Silent_p.G42G|ECHDC2_uc001cuo.3_Silent_p.G88G|ECHDC2_uc010onk.1_Silent_p.G42G|ECHDC2_uc010onl.1_Silent_p.G42G|ECHDC2_uc010onm.1_Silent_p.G42G|ECHDC2_uc010onn.1_Silent_p.G42G	NM_018281	NP_060751	Q86YB7	ECHD2_HUMAN	enoyl Coenzyme A hydratase domain containing 2	88					fatty acid metabolic process	mitochondrion	lyase activity			central_nervous_system(1)	1																		---	---	---	---
DMRTB1	63948	broad.mit.edu	37	1	53932347	53932347	+	3'UTR	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53932347G>A	uc001cvq.1	+	4						NM_033067	NP_149056			DMRT-like family B with proline-rich C-terminal,						sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2																		---	---	---	---
C1orf177	163747	broad.mit.edu	37	1	55277501	55277501	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:55277501A>C	uc001cyb.3	+	5	569	c.515A>C	c.(514-516)AAG>ACG	p.K172T	C1orf177_uc001cya.3_Missense_Mutation_p.K172T	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	hypothetical protein LOC163747 isoform 2	172											0																		---	---	---	---
PCSK9	255738	broad.mit.edu	37	1	55512210	55512210	+	Silent	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:55512210C>A	uc001cyf.1	+	3	705	c.414C>A	c.(412-414)CCC>CCA	p.P138P	PCSK9_uc010ool.1_RNA|PCSK9_uc010oom.1_Intron	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	138					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																		---	---	---	---
DAB1	1600	broad.mit.edu	37	1	57489218	57489218	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:57489218G>A	uc001cys.1	-	13	1555	c.881C>T	c.(880-882)GCT>GTT	p.A294V	DAB1_uc001cyt.1_Missense_Mutation_p.A292V|DAB1_uc001cyq.1_Missense_Mutation_p.A292V|DAB1_uc001cyr.1_Missense_Mutation_p.A208V|DAB1_uc009vzw.1_Missense_Mutation_p.A276V|DAB1_uc009vzx.1_Missense_Mutation_p.A294V	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	327					cell differentiation|nervous system development					skin(2)|ovary(1)	3																		---	---	---	---
PDE4B	5142	broad.mit.edu	37	1	66833502	66833502	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:66833502G>A	uc001dcn.2	+	14	1699	c.1508G>A	c.(1507-1509)CGT>CAT	p.R503H	PDE4B_uc009war.2_Missense_Mutation_p.R411H|PDE4B_uc001dco.2_Missense_Mutation_p.R503H|PDE4B_uc001dcp.2_Missense_Mutation_p.R488H|PDE4B_uc001dcq.2_Missense_Mutation_p.R331H|PDE4B_uc009was.2_Missense_Mutation_p.R270H	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN	phosphodiesterase 4B isoform 1	503					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)													---	---	---	---
WDR78	79819	broad.mit.edu	37	1	67306239	67306239	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:67306239G>A	uc001dcx.2	-	9	1463	c.1407C>T	c.(1405-1407)CCC>CCT	p.P469P	WDR78_uc001dcy.2_Silent_p.P469P|WDR78_uc009waw.2_Silent_p.P215P|WDR78_uc009wax.2_RNA	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	WD repeat domain 78 isoform 1	469										ovary(2)	2																		---	---	---	---
FPGT	8790	broad.mit.edu	37	1	74670742	74670742	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:74670742A>G	uc001dgb.1	+	4	1048	c.1011A>G	c.(1009-1011)ATA>ATG	p.I337M	TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron	NM_003838	NP_003829	O14772	FPGT_HUMAN	fucose-1-phosphate guanyltransferase	337					fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding			skin(1)	1																		---	---	---	---
TNNI3K	51086	broad.mit.edu	37	1	74835236	74835236	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:74835236G>A	uc001dgf.1	+	16	1685	c.1634G>A	c.(1633-1635)GGT>GAT	p.G545D	TNNI3K_uc001dgc.1_Missense_Mutation_p.G646D|TNNI3K_uc001dgd.2_Missense_Mutation_p.G646D|TNNI3K_uc001dge.1_Missense_Mutation_p.G646D	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	545	Protein kinase.					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																		---	---	---	---
ABCA4	24	broad.mit.edu	37	1	94564484	94564484	+	Missense_Mutation	SNP	G	A	A	rs61750200		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94564484G>A	uc001dqh.2	-	6	738	c.634C>T	c.(634-636)CGC>TGC	p.R212C	ABCA4_uc010otn.1_Missense_Mutation_p.R212C	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	212	Extracellular.		R -> C (in STGD1 and CORD3; common mutation in southern Europe; reduced ATP- binding capacity).		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)														---	---	---	---
SLC35A3	23443	broad.mit.edu	37	1	100483314	100483314	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:100483314C>T	uc001dsp.1	+	7	1027	c.830C>T	c.(829-831)TCG>TTG	p.S277L	SLC35A3_uc001dsq.1_Missense_Mutation_p.S277L|SLC35A3_uc009wdy.1_Intron|SLC35A3_uc001dsr.1_Missense_Mutation_p.S319L|SLC35A3_uc001dss.1_Missense_Mutation_p.S196L	NM_012243	NP_036375	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 member 3A	277	Helical; (Potential).				UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity				0		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)														---	---	---	---
CELSR2	1952	broad.mit.edu	37	1	109811843	109811843	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109811843G>A	uc001dxa.3	+	20	6804	c.6743G>A	c.(6742-6744)AGC>AAC	p.S2248N		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2248	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)														---	---	---	---
CYB561D1	284613	broad.mit.edu	37	1	110038475	110038475	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110038475C>T	uc010ovn.1	+	3	345	c.284C>T	c.(283-285)GCA>GTA	p.A95V	CYB561D1_uc010ovl.1_Missense_Mutation_p.A38V|CYB561D1_uc010ovm.1_Missense_Mutation_p.A37V|CYB561D1_uc001dxu.2_Nonsense_Mutation_p.Q130*|CYB561D1_uc001dxw.2_3'UTR|CYB561D1_uc010ovo.1_Missense_Mutation_p.A117V|CYB561D1_uc009wfd.2_Missense_Mutation_p.A44V|CYB561D1_uc010ovp.1_Missense_Mutation_p.A29V	NM_182580	NP_872386	Q8N8Q1	C56D1_HUMAN	cytochrome b-561 domain containing 1 isoform 2	95	Cytochrome b561.|Helical; (Potential).				electron transport chain|transport	integral to membrane	metal ion binding				0		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)														---	---	---	---
KCNA3	3738	broad.mit.edu	37	1	111216271	111216271	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:111216271G>A	uc001dzv.1	-	1	1385	c.1161C>T	c.(1159-1161)CTC>CTT	p.L387L		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	387						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
WNT2B	7482	broad.mit.edu	37	1	113059876	113059876	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:113059876C>A	uc001ecb.2	+	4	1330	c.815C>A	c.(814-816)GCT>GAT	p.A272D	WNT2B_uc001eca.2_Missense_Mutation_p.A253D|WNT2B_uc009wgg.2_Missense_Mutation_p.A180D	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family,	272					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity	p.A272S(1)		ovary(2)|breast(2)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-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	113232051	113232051	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:113232051A>G	uc001eck.2	+	4	626	c.356A>G	c.(355-357)CAT>CGT	p.H119R	MOV10_uc001ecl.2_Missense_Mutation_p.H119R|MOV10_uc001ecn.2_Missense_Mutation_p.H119R|MOV10_uc001ecm.2_Missense_Mutation_p.H59R|MOV10_uc009wgj.1_Missense_Mutation_p.H59R	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	119					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	113237131	113237131	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:113237131G>A	uc001eck.2	+	9	1622	c.1352G>A	c.(1351-1353)CGC>CAC	p.R451H	MOV10_uc001ecl.2_Missense_Mutation_p.R451H|MOV10_uc001ecn.2_Missense_Mutation_p.R451H|MOV10_uc001ecm.2_Missense_Mutation_p.R391H|MOV10_uc009wgj.1_Missense_Mutation_p.R391H	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	451					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)														---	---	---	---
NOTCH2NL	388677	broad.mit.edu	37	1	145273302	145273302	+	Silent	SNP	A	T	T	rs143610505	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:145273302A>T	uc001emn.3	+	3	526	c.156A>T	c.(154-156)CGA>CGT	p.R52R	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Silent_p.R52R|NOTCH2NL_uc001emo.2_Silent_p.R52R|NOTCH2NL_uc010oyh.1_RNA	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Notch homolog 2 N-terminal like protein	52	EGF-like 2.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			ovary(1)	1																		---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152188455	152188455	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152188455A>G	uc001ezt.1	-	3	5726	c.5650T>C	c.(5650-5652)TAC>CAC	p.Y1884H		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	1884	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)															---	---	---	---
FLG	2312	broad.mit.edu	37	1	152283879	152283879	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152283879A>G	uc001ezu.1	-	3	3519	c.3483T>C	c.(3481-3483)GGT>GGC	p.G1161G	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1161	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	152329960	152329960	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152329960T>C	uc001ezw.3	-	3	375	c.302A>G	c.(301-303)AAG>AGG	p.K101R	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	101							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)															---	---	---	---
CRNN	49860	broad.mit.edu	37	1	152382638	152382638	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152382638C>T	uc001ezx.2	-	3	994	c.920G>A	c.(919-921)AGC>AAC	p.S307N		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	cornulin	307	Gln-rich.				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)															---	---	---	---
NUP210L	91181	broad.mit.edu	37	1	154098942	154098942	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154098942G>A	uc001fdw.2	-						NUP210L_uc009woq.2_Intron|NUP210L_uc010peh.1_Intron	NM_207308	NP_997191			nucleoporin 210kDa-like isoform 1							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)															---	---	---	---
DCST2	127579	broad.mit.edu	37	1	155004254	155004254	+	Intron	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155004254A>G	uc001fgm.2	-						DCST2_uc009wpb.2_Intron|DCST1_uc010per.1_5'Flank|DCST1_uc001fgn.1_5'Flank|DCST1_uc010pes.1_5'Flank	NM_144622	NP_653223			DC-STAMP domain containing 2							integral to membrane				ovary(2)|central_nervous_system(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)															---	---	---	---
EFNA1	1942	broad.mit.edu	37	1	155103820	155103820	+	Missense_Mutation	SNP	G	A	A	rs144975407		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155103820G>A	uc001fhh.2	+	2	203	c.98G>A	c.(97-99)CGG>CAG	p.R33Q	EFNA1_uc001fhi.2_Missense_Mutation_p.R33Q|EFNA1_uc009wpd.1_5'Flank	NM_004428	NP_004419	P20827	EFNA1_HUMAN	ephrin A1 isoform a precursor	33					angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading	extracellular region|integral to plasma membrane	ephrin receptor binding				0	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)															---	---	---	---
PKLR	5313	broad.mit.edu	37	1	155263247	155263247	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155263247C>T	uc001fkb.3	-	8	1290	c.1251G>A	c.(1249-1251)GCG>GCA	p.A417A	RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Silent_p.A386A	NM_000298	NP_000289	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC isoform 1	417					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			skin(4)|ovary(1)	5	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)													---	---	---	---
PKLR	5313	broad.mit.edu	37	1	155264098	155264098	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155264098C>A	uc001fkb.3	-	7	1083	c.1044G>T	c.(1042-1044)AAG>AAT	p.K348N	RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Missense_Mutation_p.K317N	NM_000298	NP_000289	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC isoform 1	348			K -> N (in PKRD; Kamata).|Missing (in PKRD; Brescia).		endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			skin(4)|ovary(1)	5	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)													---	---	---	---
FCRL3	115352	broad.mit.edu	37	1	157667456	157667456	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:157667456T>G	uc001frb.2	-	5	844	c.552A>C	c.(550-552)CAA>CAC	p.Q184H	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.Q184H|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'UTR|FCRL3_uc001frc.1_Missense_Mutation_p.Q184H	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	184	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)																	---	---	---	---
CD1D	912	broad.mit.edu	37	1	158151478	158151478	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158151478G>A	uc001frr.2	+	3	794	c.295G>A	c.(295-297)GTG>ATG	p.V99M	CD1D_uc009wsr.1_Missense_Mutation_p.V99M|CD1D_uc009wss.2_Missense_Mutation_p.V99M|CD1D_uc009wst.1_Translation_Start_Site	NM_001766	NP_001757	P15813	CD1D_HUMAN	CD1D antigen precursor	99	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)																	---	---	---	---
CCDC19	25790	broad.mit.edu	37	1	159857704	159857704	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159857704C>T	uc001fui.2	-	5	533	c.515G>A	c.(514-516)CGG>CAG	p.R172Q	CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.R87Q|CCDC19_uc001ful.2_Missense_Mutation_p.R87Q|CCDC19_uc009wtc.1_Missense_Mutation_p.R172Q	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	nasopharyngeal epithelium specific protein 1	172	Potential.					mitochondrion|soluble fraction				ovary(1)	1	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)															---	---	---	---
ATP1A4	480	broad.mit.edu	37	1	160137172	160137172	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160137172G>T	uc001fve.3	+	10	1940	c.1461G>T	c.(1459-1461)GAG>GAT	p.E487D	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_5'UTR	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	487	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	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	160252903	160252903	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160252903C>T	uc010pjc.1	-						PEX19_uc010pje.1_Intron|PEX19_uc001fvs.2_Intron|PEX19_uc001fvt.2_Intron	NM_015726	NP_056541			DDB1 and CUL4 associated factor 8							CUL4 RING ubiquitin ligase complex	protein binding			skin(2)	2																		---	---	---	---
SLAMF1	6504	broad.mit.edu	37	1	160607007	160607007	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160607007C>T	uc001fwl.3	-	2	735	c.389G>A	c.(388-390)CGC>CAC	p.R130H	SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_RNA|SLAMF1_uc001fwm.2_Missense_Mutation_p.R130H	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family	130	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)															---	---	---	---
USP21	27005	broad.mit.edu	37	1	161133376	161133376	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161133376C>T	uc010pke.1	+	8	1458	c.1081C>T	c.(1081-1083)CGT>TGT	p.R361C	USP21_uc010pkc.1_Missense_Mutation_p.R361C|USP21_uc010pkd.1_Missense_Mutation_p.R361C|USP21_uc010pkf.1_Missense_Mutation_p.R361C|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyn.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc001fyl.2_5'Flank|PPOX_uc001fym.2_5'Flank|PPOX_uc001fyk.2_5'Flank|PPOX_uc001fyh.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc009wuc.1_5'Flank|PPOX_uc010pkh.1_5'Flank|PPOX_uc001fyi.2_5'Flank	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	ubiquitin-specific protease 21	361					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)|prostate(1)|breast(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)															---	---	---	---
TOMM40L	84134	broad.mit.edu	37	1	161198233	161198233	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161198233C>A	uc001fzd.2	+	8	852	c.623C>A	c.(622-624)GCT>GAT	p.A208D	TOMM40L_uc010pkl.1_Missense_Mutation_p.A174D|TOMM40L_uc009wue.2_Missense_Mutation_p.A90D|TOMM40L_uc009wuf.1_RNA|TOMM40L_uc001fze.2_Missense_Mutation_p.A208D	NM_032174	NP_115550	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40	208					protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity			large_intestine(1)	1	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)															---	---	---	---
HSPA6	3310	broad.mit.edu	37	1	161495324	161495324	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161495324C>T	uc001gap.2	+	2	1536	c.876C>T	c.(874-876)GGC>GGT	p.G292G	HSPA6_uc001gaq.2_Silent_p.G292G	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	292					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)															---	---	---	---
FCGR3A	2214	broad.mit.edu	37	1	161518473	161518473	+	Intron	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161518473G>T	uc001gat.3	-						FCGR3A_uc001gar.2_Intron|FCGR3A_uc001gas.2_Intron|FCGR3A_uc009wuh.2_Intron|FCGR3A_uc009wui.2_Intron	NM_001127595	NP_001121067			Fc fragment of IgG, low affinity IIIa, receptor						immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			ovary(1)	1	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)													---	---	---	---
F5	2153	broad.mit.edu	37	1	169541498	169541498	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169541498T>C	uc001ggg.1	-	3	479	c.334A>G	c.(334-336)ATC>GTC	p.I112V	F5_uc010plr.1_RNA	NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	112	F5/8 type A 1.|Plastocyanin-like 1.				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)													---	---	---	---
DNM3	26052	broad.mit.edu	37	1	172002361	172002361	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:172002361G>A	uc001gie.2	+	6	981	c.805G>A	c.(805-807)GCT>ACT	p.A269T	DNM3_uc001gid.3_Missense_Mutation_p.A269T|DNM3_uc009wwb.2_Missense_Mutation_p.A269T|DNM3_uc001gif.2_Missense_Mutation_p.A269T	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	dynamin 3 isoform a	269					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			breast(1)	1																		---	---	---	---
C1orf105	92346	broad.mit.edu	37	1	172431363	172431363	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:172431363T>G	uc001gik.2	+	5	515	c.319T>G	c.(319-321)TTT>GTT	p.F107V		NM_139240	NP_640333	O95561	CA105_HUMAN	hypothetical protein LOC92346	107										skin(1)	1																		---	---	---	---
NPHS2	7827	broad.mit.edu	37	1	179526176	179526176	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:179526176C>T	uc001gmq.3	-	5	809	c.724G>A	c.(724-726)GCC>ACC	p.A242T	NPHS2_uc009wxi.2_Intron	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	podocin	242	Cytoplasmic (Potential).				excretion	integral to plasma membrane	protein binding				0																		---	---	---	---
CEP350	9857	broad.mit.edu	37	1	179991976	179991976	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:179991976G>T	uc001gnt.2	+	13	3762	c.3379G>T	c.(3379-3381)GAA>TAA	p.E1127*	CEP350_uc009wxl.2_Nonsense_Mutation_p.E1126*|CEP350_uc001gnu.2_Nonsense_Mutation_p.E961*	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	1127	Ser-rich.					centrosome|nucleus|spindle				ovary(4)	4																		---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181701981	181701981	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:181701981G>A	uc001gow.2	+	20	2924	c.2759G>A	c.(2758-2760)CGC>CAC	p.R920H	CACNA1E_uc009wxs.2_Missense_Mutation_p.R808H|CACNA1E_uc001gox.1_Missense_Mutation_p.R146H|CACNA1E_uc009wxt.2_Missense_Mutation_p.R146H	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	920	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																		---	---	---	---
TPR	7175	broad.mit.edu	37	1	186302450	186302450	+	Silent	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186302450A>C	uc001grv.2	-	37	5556	c.5259T>G	c.(5257-5259)CCT>CCG	p.P1753P		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	1753					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								---	---	---	---
KCNT2	343450	broad.mit.edu	37	1	196254881	196254881	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:196254881C>A	uc001gtd.1	-	23	2663	c.2603G>T	c.(2602-2604)CGG>CTG	p.R868L	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.R794L|KCNT2_uc001gtf.1_Missense_Mutation_p.R844L|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.R844L|KCNT2_uc001gth.1_Missense_Mutation_p.R365L	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	868	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7																		---	---	---	---
F13B	2165	broad.mit.edu	37	1	197032103	197032103	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197032103C>T	uc001gtt.1	-	2	193	c.149G>A	c.(148-150)AGC>AAC	p.S50N		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	50	Sushi 1.				blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
DENND1B	163486	broad.mit.edu	37	1	197621390	197621390	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197621390G>A	uc001guf.3	-	7	760	c.422C>T	c.(421-423)GCA>GTA	p.A141V	DENND1B_uc010ppe.1_Missense_Mutation_p.A141V|DENND1B_uc010ppf.1_RNA|DENND1B_uc001gue.3_Missense_Mutation_p.A131V|DENND1B_uc001gug.3_5'UTR	NM_144977	NP_659414	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B isoform 2	141	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity				0																		---	---	---	---
PTPRC	5788	broad.mit.edu	37	1	198711490	198711490	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:198711490A>C	uc001gur.1	+	25	2865	c.2685A>C	c.(2683-2685)CAA>CAC	p.Q895H	PTPRC_uc001gus.1_Missense_Mutation_p.Q847H|PTPRC_uc001gut.1_Missense_Mutation_p.Q734H	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	895	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.	Substrate (By similarity).			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																		---	---	---	---
ELF3	1999	broad.mit.edu	37	1	201983058	201983058	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201983058T>A	uc001gxg.3	+	7	4099	c.907T>A	c.(907-909)TTC>ATC	p.F303I	ELF3_uc001gxi.3_Missense_Mutation_p.F303I|ELF3_uc001gxh.3_Missense_Mutation_p.F303I	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	303	ETS.				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																		---	---	---	---
KDM5B	10765	broad.mit.edu	37	1	202702738	202702738	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202702738G>A	uc001gyf.2	-	23	3816	c.3700C>T	c.(3700-3702)CCC>TCC	p.P1234S	KDM5B_uc009xag.2_Missense_Mutation_p.P1270S|KDM5B_uc001gyg.1_Missense_Mutation_p.P1076S	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	1234					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5																		---	---	---	---
ATP2B4	493	broad.mit.edu	37	1	203669950	203669950	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203669950G>A	uc001gzw.2	+	6	1684	c.800G>A	c.(799-801)GGC>GAC	p.G267D	ATP2B4_uc001gzv.2_Missense_Mutation_p.G267D|ATP2B4_uc009xaq.2_Missense_Mutation_p.G267D	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	267	Cytoplasmic (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)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)															---	---	---	---
MDM4	4194	broad.mit.edu	37	1	204506617	204506617	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204506617C>A	uc001hba.2	+	6	565	c.403C>A	c.(403-405)CAA>AAA	p.Q135K	MDM4_uc001hbd.1_RNA|MDM4_uc010pqw.1_Intron|MDM4_uc010pqx.1_Missense_Mutation_p.Q8K|MDM4_uc001hay.1_Missense_Mutation_p.Q135K|MDM4_uc001hbb.2_Missense_Mutation_p.Q8K|MDM4_uc010pqy.1_Intron|MDM4_uc001hbc.2_Intron|MDM4_uc009xbe.1_RNA	NM_002393	NP_002384	O15151	MDM4_HUMAN	mouse double minute 4 homolog	135					apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)					A		GBM|bladder|retinoblastoma								---	---	---	---
LRRN2	10446	broad.mit.edu	37	1	204588433	204588433	+	Missense_Mutation	SNP	C	T	T	rs139753603		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204588433C>T	uc001hbe.1	-	3	1076	c.688G>A	c.(688-690)GAC>AAC	p.D230N	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.D230N|LRRN2_uc009xbf.1_Missense_Mutation_p.D230N|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	230	LRR 7.|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)															---	---	---	---
SLC41A1	254428	broad.mit.edu	37	1	205764510	205764510	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205764510C>T	uc001hdh.1	-	9	2041	c.1169G>A	c.(1168-1170)CGC>CAC	p.R390H	SLC41A1_uc001hdg.1_Missense_Mutation_p.R11H	NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 member 1	390						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			skin(2)	2	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)															---	---	---	---
AVPR1B	553	broad.mit.edu	37	1	206225358	206225358	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:206225358G>A	uc001hds.2	+	1	1076	c.918G>A	c.(916-918)TGG>TGA	p.W306*		NM_000707	NP_000698	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	306	Extracellular (Potential).				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)													---	---	---	---
PFKFB2	5208	broad.mit.edu	37	1	207240864	207240864	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207240864T>C	uc001hfg.2	+	9	762	c.653T>C	c.(652-654)GTG>GCG	p.V218A	PFKFB2_uc010psc.1_Missense_Mutation_p.V120A|PFKFB2_uc001hfh.2_Missense_Mutation_p.V218A|PFKFB2_uc009xcc.2_Missense_Mutation_p.V176A|PFKFB2_uc010psd.1_Missense_Mutation_p.V32A	NM_006212	NP_006203	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,	218	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			ovary(1)	1	Prostate(682;0.19)																	---	---	---	---
ESRRG	2104	broad.mit.edu	37	1	216692774	216692774	+	Intron	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216692774A>G	uc001hkw.1	-						ESRRG_uc001hky.1_Intron|ESRRG_uc009xdp.1_Intron|ESRRG_uc001hkz.1_Intron|ESRRG_uc010puc.1_Intron|ESRRG_uc001hla.1_Intron|ESRRG_uc001hlb.1_Intron|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Intron|ESRRG_uc001hld.1_Intron|ESRRG_uc001hkx.1_Intron|ESRRG_uc009xdo.1_Intron|ESRRG_uc001hle.1_Intron	NM_001438	NP_001429			estrogen-related receptor gamma isoform 1						positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain 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)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)													---	---	---	---
C1orf58	148362	broad.mit.edu	37	1	222889118	222889118	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:222889118G>A	uc001hnq.1	+	2	472	c.77G>A	c.(76-78)GGC>GAC	p.G26D	AIDA_uc010pus.1_5'Flank|C1orf58_uc010put.1_Missense_Mutation_p.G26D|C1orf58_uc010puu.1_Missense_Mutation_p.G26D|C1orf58_uc010puv.1_Missense_Mutation_p.G26D	NM_144695	NP_653296	Q5VW32	BROX_HUMAN	Bro1-domain-containing protein	26						membrane					0				GBM - Glioblastoma multiforme(131;0.0667)														---	---	---	---
C1orf58	148362	broad.mit.edu	37	1	222898880	222898880	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:222898880A>G	uc001hnq.1	+	7	958	c.563A>G	c.(562-564)CAG>CGG	p.Q188R	C1orf58_uc010put.1_Missense_Mutation_p.Q156R|C1orf58_uc010puu.1_Missense_Mutation_p.Q188R|C1orf58_uc010puv.1_Missense_Mutation_p.Q156R	NM_144695	NP_653296	Q5VW32	BROX_HUMAN	Bro1-domain-containing protein	188	BRO1.					membrane					0				GBM - Glioblastoma multiforme(131;0.0667)														---	---	---	---
DISP1	84976	broad.mit.edu	37	1	223177973	223177973	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:223177973C>T	uc001hnu.1	+	8	3381	c.3234C>T	c.(3232-3234)CGC>CGT	p.R1078R		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	1078					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)														---	---	---	---
CNIH3	149111	broad.mit.edu	37	1	224922304	224922304	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:224922304C>T	uc001hos.1	+	5	1049	c.351C>T	c.(349-351)TAC>TAT	p.Y117Y		NM_152495	NP_689708	Q8TBE1	CNIH3_HUMAN	cornichon homolog 3	117	Cytoplasmic (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)														---	---	---	---
GJC2	57165	broad.mit.edu	37	1	228345675	228345675	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228345675G>A	uc001hsk.2	+	2	391	c.216G>A	c.(214-216)GCG>GCA	p.A72A		NM_020435	NP_065168	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	72	Extracellular (Potential).				cell death	connexon complex|integral to membrane					0		Prostate(94;0.0405)																---	---	---	---
C1orf131	128061	broad.mit.edu	37	1	231362818	231362818	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:231362818C>T	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)																---	---	---	---
PCNXL2	80003	broad.mit.edu	37	1	233397834	233397834	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:233397834G>A	uc001hvl.2	-	3	672	c.437C>T	c.(436-438)TCC>TTC	p.S146F	PCNXL2_uc009xfu.2_5'Flank|PCNXL2_uc009xfv.1_5'Flank	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	146						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)																---	---	---	---
TARBP1	6894	broad.mit.edu	37	1	234569180	234569180	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:234569180A>T	uc001hwd.2	-	14	2370	c.2370T>A	c.(2368-2370)CAT>CAA	p.H790Q		NM_005646	NP_005637	Q13395	TARB1_HUMAN	TAR RNA binding protein 1	790					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)|skin(1)	3	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)															---	---	---	---
LYST	1130	broad.mit.edu	37	1	235945395	235945395	+	Intron	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:235945395A>G	uc001hxj.2	-						LYST_uc009xgb.1_Intron|LYST_uc010pxs.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	236189263	236189263	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236189263G>A	uc001hxo.2	-	8	2019	c.1917C>T	c.(1915-1917)TTC>TTT	p.F639F	NID1_uc009xgd.2_Silent_p.F639F	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	639	Nidogen G2 beta-barrel.				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	236766615	236766615	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236766615C>T	uc001hyd.1	-	3	329	c.204G>A	c.(202-204)CCG>CCA	p.P68P	HEATR1_uc001hye.1_Silent_p.P68P	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	68					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)															---	---	---	---
EXO1	9156	broad.mit.edu	37	1	242035442	242035442	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:242035442T>C	uc001hzh.2	+	12	1916	c.1376T>C	c.(1375-1377)TTT>TCT	p.F459S	EXO1_uc001hzi.2_Missense_Mutation_p.F459S|EXO1_uc001hzj.2_Missense_Mutation_p.F459S|EXO1_uc009xgq.2_Missense_Mutation_p.F458S	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	459	Interaction with MLH1.				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					---	---	---	---
KIF26B	55083	broad.mit.edu	37	1	245850169	245850169	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:245850169G>A	uc001ibf.1	+	12	4324	c.3884G>A	c.(3883-3885)TGC>TAC	p.C1295Y	KIF26B_uc001ibg.1_Missense_Mutation_p.C913Y|KIF26B_uc001ibh.1_Missense_Mutation_p.C537Y	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1295					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)															---	---	---	---
OR2W5	441932	broad.mit.edu	37	1	247654805	247654805	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247654805G>A	uc001icz.1	+	1	376	c.376G>A	c.(376-378)GTC>ATC	p.V126I		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W,	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3	all_cancers(71;4.51e-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)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)															---	---	---	---
OR2L8	391190	broad.mit.edu	37	1	248112658	248112658	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248112658T>C	uc001idt.1	+	1	499	c.499T>C	c.(499-501)TAT>CAT	p.Y167H	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	167	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)															---	---	---	---
OR2M5	127059	broad.mit.edu	37	1	248309379	248309379	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248309379T>C	uc010pze.1	+	1	930	c.930T>C	c.(928-930)TGT>TGC	p.C310C		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	310	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	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;0.0388)															---	---	---	---
OR2T33	391195	broad.mit.edu	37	1	248436684	248436684	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248436684A>G	uc010pzi.1	-	1	433	c.433T>C	c.(433-435)TCG>CCG	p.S145P		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T,	145	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000124)|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;0.0245)															---	---	---	---
ALLC	55821	broad.mit.edu	37	2	3743890	3743890	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:3743890G>A	uc010ewt.2	+	9	854	c.693G>A	c.(691-693)GCG>GCA	p.A231A	ALLC_uc002qyf.2_Silent_p.A2A	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)			---	---	---	---
TAF1B	9014	broad.mit.edu	37	2	10022916	10022916	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:10022916A>G	uc002qzz.2	+	8	889	c.789A>G	c.(787-789)AGA>AGG	p.R263R	TAF1B_uc010exc.2_Silent_p.R263R|TAF1B_uc002qzy.3_Silent_p.R263R|TAF1B_uc010yja.1_Silent_p.R8R|TAF1B_uc010exd.2_Silent_p.R8R	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	TBP-associated factor 1B	263					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|breast(1)|pancreas(1)	3	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
ASXL2	55252	broad.mit.edu	37	2	25965810	25965810	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:25965810G>A	uc002rgs.2	-	12	3617	c.3396C>T	c.(3394-3396)GGC>GGT	p.G1132G	ASXL2_uc002rgt.1_Silent_p.G615G	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	1132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
GTF3C2	2976	broad.mit.edu	37	2	27551330	27551330	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27551330C>T	uc002rjv.1	-						MPV17_uc002rjt.2_5'Flank|GTF3C2_uc010eyy.1_Intron|GTF3C2_uc002rju.1_Intron|GTF3C2_uc002rjw.1_Intron	NM_001521	NP_001512			general transcription factor IIIC, polypeptide							transcription factor TFIIIC complex				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
PLB1	151056	broad.mit.edu	37	2	28741407	28741407	+	Intron	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:28741407A>G	uc002rmb.1	+						PLB1_uc010ezj.1_Intron	NM_153021	NP_694566			phospholipase B1 precursor						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)																	---	---	---	---
GALNT14	79623	broad.mit.edu	37	2	31360851	31360851	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:31360851C>T	uc002rnr.2	-	1	721	c.102G>A	c.(100-102)CCG>CCA	p.P34P	GALNT14_uc002rns.2_Silent_p.P34P|GALNT14_uc010ymr.1_5'UTR|GALNT14_uc010ezo.1_Silent_p.P34P|GALNT14_uc010ezp.1_Intron	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	N-acetylgalactosaminyltransferase 14	34	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(2)|skin(1)	3	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
TMEM178	130733	broad.mit.edu	37	2	39893185	39893185	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:39893185C>T	uc002rrt.2	+	1	96	c.71C>T	c.(70-72)ACG>ATG	p.T24M	TMEM178_uc010fam.1_Missense_Mutation_p.T24M	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN	transmembrane protein 178 precursor	24						integral to membrane					0		all_hematologic(82;0.248)																---	---	---	---
SLC8A1	6546	broad.mit.edu	37	2	40657279	40657279	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:40657279C>A	uc002rrx.2	-	1	166	c.142G>T	c.(142-144)GAA>TAA	p.E48*	SLC8A1_uc002rry.2_Nonsense_Mutation_p.E48*|SLC8A1_uc002rrz.2_Nonsense_Mutation_p.E48*|SLC8A1_uc002rsa.2_Nonsense_Mutation_p.E48*|SLC8A1_uc002rsd.3_Nonsense_Mutation_p.E48*|SLC8A1_uc002rsb.1_Nonsense_Mutation_p.E48*|SLC8A1_uc010fan.1_Nonsense_Mutation_p.E48*|SLC8A1_uc002rsc.1_Nonsense_Mutation_p.E48*	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	48	Extracellular (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)													---	---	---	---
ABCG5	64240	broad.mit.edu	37	2	44051074	44051074	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44051074G>A	uc002rtn.2	-	9	1442	c.1302C>T	c.(1300-1302)GGC>GGT	p.G434G	ABCG5_uc002rtm.2_Silent_p.G39G|ABCG5_uc002rto.2_Silent_p.G263G|ABCG5_uc002rtp.2_Silent_p.G39G	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	ATP-binding cassette sub-family G member 5	434	Helical; Name=2; (Potential).|ABC transmembrane type-2.				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			ovary(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)																---	---	---	---
SIX2	10736	broad.mit.edu	37	2	45235980	45235980	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:45235980T>C	uc002ruo.2	-	1	563	c.270A>G	c.(268-270)GCA>GCG	p.A90A	SIX2_uc002rup.2_Silent_p.A90A	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	90						nucleus	sequence-specific DNA binding transcription factor activity			pancreas(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)																---	---	---	---
EPAS1	2034	broad.mit.edu	37	2	46583304	46583304	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:46583304G>A	uc002ruv.2	+	3	720	c.232G>A	c.(232-234)GAG>AAG	p.E78K		NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	78					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)															---	---	---	---
FBXO11	80204	broad.mit.edu	37	2	48066832	48066832	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48066832T>C	uc010fbl.2	-	2	171	c.57A>G	c.(55-57)AGA>AGG	p.R19R	FBXO11_uc002rwe.2_Silent_p.R19R|FBXO11_uc002rwf.2_Silent_p.R19R|FBXO11_uc002rwg.1_Silent_p.R19R	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	103					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)															---	---	---	---
MTIF2	4528	broad.mit.edu	37	2	55490842	55490842	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:55490842C>T	uc002ryn.2	-	5	890	c.153G>A	c.(151-153)TGG>TGA	p.W51*	MTIF2_uc010yox.1_5'UTR|MTIF2_uc002ryo.2_Nonsense_Mutation_p.W51*|MTIF2_uc002ryp.1_RNA	NM_001005369	NP_001005369	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	51					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			ovary(1)	1																		---	---	---	---
BCL11A	53335	broad.mit.edu	37	2	60688703	60688703	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:60688703C>T	uc002sae.1	-	4	1572	c.1344G>A	c.(1342-1344)CCG>CCA	p.P448P	BCL11A_uc002sab.2_Silent_p.P448P|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Silent_p.P117P|BCL11A_uc010ypj.1_Silent_p.P414P|BCL11A_uc002sad.1_Silent_p.P296P|BCL11A_uc002saf.1_Silent_p.P414P	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	448					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)					T	IGH@	B-CLL								---	---	---	---
SPRED2	200734	broad.mit.edu	37	2	65571937	65571937	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:65571937G>A	uc002sdr.3	-	2	655	c.120C>T	c.(118-120)CGC>CGT	p.R40R	SPRED2_uc010fcw.2_Silent_p.R37R|SPRED2_uc010fcx.1_RNA	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	sprouty-related protein with EVH-1 domain 2	40	WH1.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			ovary(1)|lung(1)|central_nervous_system(1)	3																		---	---	---	---
AAK1	22848	broad.mit.edu	37	2	69748037	69748037	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69748037C>A	uc002sfp.2	-	11	1644	c.1139G>T	c.(1138-1140)GGA>GTA	p.G380V	AAK1_uc010fdk.2_Missense_Mutation_p.G380V|AAK1_uc010yqm.1_Missense_Mutation_p.G380V|SNORA36C_uc010fdl.2_5'Flank	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	380						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity				0																		---	---	---	---
MPHOSPH10	10199	broad.mit.edu	37	2	71365669	71365669	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:71365669C>T	uc002sht.1	+	5	1500	c.1148C>T	c.(1147-1149)CCG>CTG	p.P383L	MPHOSPH10_uc010feb.1_Missense_Mutation_p.P383L	NM_005791	NP_005782	O00566	MPP10_HUMAN	M-phase phosphoprotein 10	383					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			skin(2)|ovary(1)	3																		---	---	---	---
DQX1	165545	broad.mit.edu	37	2	74749707	74749707	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74749707C>A	uc010yrw.1	-	8	1660	c.1495G>T	c.(1495-1497)GCT>TCT	p.A499S	DQX1_uc002smc.2_Missense_Mutation_p.A60S	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	DEAQ box polypeptide 1 (RNA-dependent ATPase)	499						nucleus	ATP binding|helicase activity|nucleic acid binding			ovary(2)	2																		---	---	---	---
LRRTM4	80059	broad.mit.edu	37	2	77746748	77746748	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:77746748C>T	uc002snr.2	-	3	662	c.247G>A	c.(247-249)GGC>AGC	p.G83S	LRRTM4_uc002snq.2_Missense_Mutation_p.G83S|LRRTM4_uc002sns.2_Missense_Mutation_p.G83S|LRRTM4_uc002snt.2_Missense_Mutation_p.G84S	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	83	LRR 1.|Extracellular (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)														---	---	---	---
RETSAT	54884	broad.mit.edu	37	2	85581587	85581587	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:85581587G>T	uc002spd.2	-	1	235	c.44C>A	c.(43-45)GCC>GAC	p.A15D	ELMOD3_uc010fgg.2_5'Flank|ELMOD3_uc002spf.3_5'Flank|ELMOD3_uc002spg.3_5'Flank|ELMOD3_uc002sph.3_5'Flank|ELMOD3_uc010ysn.1_5'Flank|ELMOD3_uc010yso.1_5'Flank|ELMOD3_uc010ysp.1_5'Flank|RETSAT_uc010ysm.1_Missense_Mutation_p.A15D|RETSAT_uc010fgf.2_Missense_Mutation_p.A15D	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	all-trans-13,14-dihydroretinol saturase	15					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			ovary(2)	2					Vitamin A(DB00162)													---	---	---	---
ELMOD3	84173	broad.mit.edu	37	2	85604483	85604483	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:85604483A>G	uc002spf.3	+	12	1289	c.624A>G	c.(622-624)ACA>ACG	p.T208T	ELMOD3_uc010fgg.2_RNA|ELMOD3_uc002spg.3_Silent_p.T208T|ELMOD3_uc002sph.3_Silent_p.T208T|ELMOD3_uc010ysn.1_Silent_p.T208T|ELMOD3_uc010yso.1_RNA|ELMOD3_uc010ysp.1_RNA	NM_001135021	NP_001128493	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3 isoform b	208	ELMO.				phagocytosis	cytoskeleton				ovary(2)	2																		---	---	---	---
KDM3A	55818	broad.mit.edu	37	2	86712114	86712114	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:86712114G>A	uc002sri.3	+	20	3471	c.3144G>A	c.(3142-3144)TGG>TGA	p.W1048*	KDM3A_uc010ytj.1_Nonsense_Mutation_p.W1048*|KDM3A_uc010ytk.1_Nonsense_Mutation_p.W996*	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	1048					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5																		---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103130652	103130652	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:103130652G>T	uc002tbz.3	+	8	2120	c.1663G>T	c.(1663-1665)GCC>TCC	p.A555S		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	555	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																		---	---	---	---
CCDC138	165055	broad.mit.edu	37	2	109411080	109411080	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109411080G>T	uc002ten.1	+	5	539	c.479G>T	c.(478-480)AGC>ATC	p.S160I	CCDC138_uc002teo.1_Missense_Mutation_p.S160I|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR	NM_144978	NP_659415	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	160											0																		---	---	---	---
ACOXL	55289	broad.mit.edu	37	2	111562961	111562961	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:111562961G>A	uc002tgr.3	+	9	966	c.742G>A	c.(742-744)GGT>AGT	p.G248S	ACOXL_uc010fkc.2_Missense_Mutation_p.G248S|ACOXL_uc010yxk.1_Missense_Mutation_p.G248S	NM_001105516	NP_001098986	Q9NUZ1	ACOXL_HUMAN	acyl-Coenzyme A oxidase-like 2	248					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity				0																		---	---	---	---
ANAPC1	64682	broad.mit.edu	37	2	112614259	112614259	+	Intron	SNP	A	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:112614259A>T	uc002thi.2	-							NM_022662	NP_073153			anaphase promoting complex subunit 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|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|cytosol|nucleoplasm				skin(2)	2																		---	---	---	---
ZC3H6	376940	broad.mit.edu	37	2	113069467	113069467	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113069467A>C	uc002thq.1	+	5	1094	c.700A>C	c.(700-702)ACC>CCC	p.T234P		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	234							nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4																		---	---	---	---
INHBB	3625	broad.mit.edu	37	2	121106806	121106806	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:121106806C>T	uc002tmn.2	+	2	626	c.580C>T	c.(580-582)CGG>TGG	p.R194W		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	194					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	121746625	121746625	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:121746625C>T	uc010flp.2	+	13	3165	c.3135C>T	c.(3133-3135)GAC>GAT	p.D1045D	GLI2_uc002tmq.1_Silent_p.D717D|GLI2_uc002tmr.1_Silent_p.D700D|GLI2_uc002tmt.3_Silent_p.D717D|GLI2_uc002tmu.3_Silent_p.D700D	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	1045					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)																---	---	---	---
HS6ST1	9394	broad.mit.edu	37	2	129025949	129025949	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:129025949G>A	uc002tpt.3	-	2	1057	c.1023C>T	c.(1021-1023)AAC>AAT	p.N341N		NM_004807	NP_004798	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	341	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			pancreas(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)														---	---	---	---
ARHGEF4	50649	broad.mit.edu	37	2	131688588	131688588	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:131688588T>C	uc002tsa.1	+	3	578	c.58T>C	c.(58-60)TTC>CTC	p.F20L	ARHGEF4_uc010fmw.1_Missense_Mutation_p.F666L|ARHGEF4_uc002tsb.1_Missense_Mutation_p.F20L|ARHGEF4_uc010fmx.1_Missense_Mutation_p.F20L|ARHGEF4_uc002trz.1_Missense_Mutation_p.F666L	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor 4 isoform	20					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)														---	---	---	---
ACMSD	130013	broad.mit.edu	37	2	135628620	135628620	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:135628620C>T	uc002ttz.2	+	7	733	c.666C>T	c.(664-666)TTC>TTT	p.F222F	ACMSD_uc002tua.2_Silent_p.F164F|uc010zbe.1_Intron	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	222					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.115)														---	---	---	---
ACMSD	130013	broad.mit.edu	37	2	135630090	135630090	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:135630090G>A	uc002ttz.2	+	8	795	c.728G>A	c.(727-729)CGC>CAC	p.R243H	ACMSD_uc002tua.2_Missense_Mutation_p.R185H|uc010zbe.1_Intron	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	243					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.115)														---	---	---	---
RAB3GAP1	22930	broad.mit.edu	37	2	135848570	135848570	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:135848570T>C	uc002tuj.2	+	4	178	c.153T>C	c.(151-153)GGT>GGC	p.G51G	RAB3GAP1_uc010fnf.2_Silent_p.G51G|RAB3GAP1_uc010fng.2_5'UTR|RAB3GAP1_uc010fnh.1_RNA	NM_012233	NP_036365	Q15042	RB3GP_HUMAN	RAB3 GTPase-activating protein	51						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)														---	---	---	---
KYNU	8942	broad.mit.edu	37	2	143718341	143718341	+	Splice_Site	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:143718341T>C	uc002tvl.2	+	8	859	c.729_splice	c.e8+2	p.K243_splice	KYNU_uc002tvk.2_Splice_Site_p.K243_splice|KYNU_uc010fnm.2_Splice_Site_p.K243_splice	NM_003937	NP_003928			kynureninase (L-kynurenine hydrolase) isoform a						anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			skin(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)													---	---	---	---
NEB	4703	broad.mit.edu	37	2	152374867	152374867	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152374867G>T	uc010fnx.2	-	128	17853	c.17662C>A	c.(17662-17664)CTT>ATT	p.L5888I	NEB_uc002txr.2_Missense_Mutation_p.L2311I|NEB_uc002txt.3_Missense_Mutation_p.L393I	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	5888	Nebulin 161.				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	152427010	152427010	+	Splice_Site	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152427010C>T	uc010fnx.2	-	80	12206	c.12015_splice	c.e80+1	p.D4005_splice	NEB_uc002txr.2_Splice_Site_p.D428_splice	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)														---	---	---	---
RPRM	56475	broad.mit.edu	37	2	154334943	154334943	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:154334943G>A	uc002tyq.1	-	1	380	c.137C>T	c.(136-138)CCG>CTG	p.P46L		NM_019845	NP_062819	Q9NS64	RPRM_HUMAN	reprimo, TP53 dependant G2 arrest mediator	46					cell cycle arrest	cytoplasm|integral to membrane	protein binding				0																		---	---	---	---
KCNJ3	3760	broad.mit.edu	37	2	155555820	155555820	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:155555820G>A	uc002tyv.1	+	1	728	c.533G>A	c.(532-534)GGC>GAC	p.G178D	KCNJ3_uc010zce.1_Missense_Mutation_p.G178D	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	178	Helical; Name=M2; (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)													---	---	---	---
ITGB6	3694	broad.mit.edu	37	2	161029225	161029225	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:161029225C>T	uc002ubh.2	-	6	792	c.776G>A	c.(775-777)CGG>CAG	p.R259Q	ITGB6_uc010fow.1_RNA|ITGB6_uc010fou.2_Missense_Mutation_p.R259Q|ITGB6_uc010zcq.1_Missense_Mutation_p.R217Q|ITGB6_uc010fov.1_Missense_Mutation_p.R259Q	NM_000888	NP_000879	P18564	ITB6_HUMAN	integrin, beta 6 precursor	259	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																		---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166243339	166243339	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166243339G>T	uc002udc.2	+	26	4925	c.4635G>T	c.(4633-4635)ATG>ATT	p.M1545I	SCN2A_uc002udd.2_Missense_Mutation_p.M1545I|SCN2A_uc002ude.2_Missense_Mutation_p.M1545I	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1545	IV.|Helical; Name=S1 of repeat IV; (Potential).				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)													---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166901547	166901547	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166901547C>T	uc010zcz.1	-						SCN1A_uc002udo.3_Intron|SCN1A_uc010fpk.2_Intron	NM_006920	NP_008851			sodium channel, voltage-gated, type I, alpha							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)													---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168114854	168114854	+	3'UTR	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:168114854T>C	uc002udx.2	+	10					XIRP2_uc010fpn.2_Silent_p.L633L|XIRP2_uc010fpo.2_Silent_p.L600L|XIRP2_uc010fpp.2_Silent_p.L600L|XIRP2_uc010fpq.2_3'UTR|XIRP2_uc010fpr.2_Silent_p.L378L	NM_152381	NP_689594			xin actin-binding repeat containing 2 isoform 1						actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14																		---	---	---	---
WIPF1	7456	broad.mit.edu	37	2	175436475	175436475	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:175436475C>T	uc002uiy.2	-	6	1390	c.1058G>A	c.(1057-1059)CGT>CAT	p.R353H	uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.R353H|WIPF1_uc010fqt.1_Missense_Mutation_p.R353H|WIPF1_uc002ujc.1_Missense_Mutation_p.R353H|WIPF1_uc002uiz.2_Missense_Mutation_p.R353H|WIPF1_uc002ujb.1_Missense_Mutation_p.R353H|WIPF1_uc010zep.1_Missense_Mutation_p.R353H	NM_003387	NP_003378	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	353	XRSGPXPPXP motif 1.|Pro-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			ovary(1)|skin(1)	2																		---	---	---	---
CHN1	1123	broad.mit.edu	37	2	175666460	175666460	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:175666460G>A	uc002uji.2	-	12	1713	c.1183C>T	c.(1183-1185)CGG>TGG	p.R395W	CHN1_uc010zeq.1_Missense_Mutation_p.R369W|CHN1_uc002ujj.2_Missense_Mutation_p.R170W|CHN1_uc002ujg.2_Missense_Mutation_p.R270W	NM_001822	NP_001813	P15882	CHIN_HUMAN	chimerin (chimaerin) 1 isoform a	395	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	p.R395Q(1)		ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.226)					T	TAF15	extraskeletal myxoid chondrosarcoma								---	---	---	---
CHN1	1123	broad.mit.edu	37	2	175677082	175677082	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:175677082G>A	uc002uji.2	-	9	1371	c.841C>T	c.(841-843)CGG>TGG	p.R281W	CHN1_uc010zeq.1_Missense_Mutation_p.R255W|CHN1_uc002ujj.2_Missense_Mutation_p.R56W|CHN1_uc002ujg.2_Missense_Mutation_p.R156W	NM_001822	NP_001813	P15882	CHIN_HUMAN	chimerin (chimaerin) 1 isoform a	281	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								---	---	---	---
HOXD1	3231	broad.mit.edu	37	2	177054043	177054043	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:177054043G>A	uc002ukv.3	+	1	737	c.514G>A	c.(514-516)GAC>AAC	p.D172N	HOXD1_uc010fqy.2_Missense_Mutation_p.D172N|HOXD1_uc010zez.1_Missense_Mutation_p.D172N	NM_024501	NP_078777	Q9GZZ0	HXD1_HUMAN	homeobox D1	172						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)														---	---	---	---
PLEKHA3	65977	broad.mit.edu	37	2	179350390	179350390	+	Silent	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179350390T>G	uc002umn.2	+	2	461	c.63T>G	c.(61-63)GTT>GTG	p.V21V		NM_019091	NP_061964	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A	21	PH.					cytoplasm|membrane				ovary(1)|kidney(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)															---	---	---	---
PLEKHA3	65977	broad.mit.edu	37	2	179365829	179365829	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179365829G>A	uc002umn.2	+	7	1099	c.701G>A	c.(700-702)CGA>CAA	p.R234Q		NM_019091	NP_061964	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A	234						cytoplasm|membrane				ovary(1)|kidney(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179479312	179479312	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179479312A>T	uc010zfg.1	-	210	41449	c.41225T>A	c.(41224-41226)GTC>GAC	p.V13742D	uc002ump.1_RNA|TTN_uc010zfh.1_Missense_Mutation_p.V7437D|TTN_uc010zfi.1_Missense_Mutation_p.V7370D|TTN_uc010zfj.1_Missense_Mutation_p.V7245D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14669							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	179501146	179501146	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179501146T>C	uc010zfg.1	-	174	33828	c.33604A>G	c.(33604-33606)ACG>GCG	p.T11202A	TTN_uc010zfh.1_Missense_Mutation_p.T4897A|TTN_uc010zfi.1_Missense_Mutation_p.T4830A|TTN_uc010zfj.1_Missense_Mutation_p.T4705A|TTN_uc010fre.1_Missense_Mutation_p.T1063A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12129							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	179594876	179594876	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179594876C>T	uc010zfg.1	-	59	14743	c.14519G>A	c.(14518-14520)TGC>TAC	p.C4840Y	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.C1501Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5767							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	179605699	179605699	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179605699T>G	uc010zfh.1	-	46	11972	c.11748A>C	c.(11746-11748)GAA>GAC	p.E3916D	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.E3849D|TTN_uc010zfj.1_Missense_Mutation_p.E3724D|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	3853							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	179641123	179641123	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179641123G>T	uc010zfg.1	-	28	5692	c.5468C>A	c.(5467-5469)GCT>GAT	p.A1823D	TTN_uc010zfh.1_Missense_Mutation_p.A1777D|TTN_uc010zfi.1_Missense_Mutation_p.A1777D|TTN_uc010zfj.1_Missense_Mutation_p.A1777D|TTN_uc002unb.2_Missense_Mutation_p.A1823D|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1823							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)															---	---	---	---
SESTD1	91404	broad.mit.edu	37	2	179981390	179981390	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179981390T>C	uc002uni.3	-						SESTD1_uc002unh.3_Missense_Mutation_p.K23E	NM_178123	NP_835224			SEC14 and spectrin domains 1						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)															---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185801192	185801192	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:185801192G>T	uc002uph.2	+	4	1663	c.1069G>T	c.(1069-1071)GGA>TGA	p.G357*		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	357						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11																		---	---	---	---
STAT1	6772	broad.mit.edu	37	2	191874714	191874714	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:191874714C>T	uc002usj.2	-	3	404	c.16G>A	c.(16-18)GAA>AAA	p.E6K	STAT1_uc010fse.1_Missense_Mutation_p.E6K|STAT1_uc002usk.2_Missense_Mutation_p.E6K|STAT1_uc002usl.2_Missense_Mutation_p.E8K|STAT1_uc010fsf.1_5'UTR	NM_007315	NP_009330	P42224	STAT1_HUMAN	signal transducer and activator of transcription	6					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)													---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196749503	196749503	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:196749503C>A	uc002utj.3	-	35	5670	c.5569G>T	c.(5569-5571)GTT>TTT	p.V1857F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1857					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12																		---	---	---	---
ANKRD44	91526	broad.mit.edu	37	2	197986170	197986170	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197986170G>A	uc002uuc.2	-	8	959	c.792C>T	c.(790-792)AAC>AAT	p.N264N	ANKRD44_uc002utz.3_Translation_Start_Site|ANKRD44_uc002uua.1_Silent_p.N239N|ANKRD44_uc002uub.2_Silent_p.N264N|ANKRD44_uc010zgw.1_Silent_p.N192N	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	264	ANK 8.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)															---	---	---	---
NIF3L1	60491	broad.mit.edu	37	2	201759977	201759977	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:201759977T>C	uc002uwm.2	+						NIF3L1_uc002uwl.2_Intron|NIF3L1_uc002uwn.2_Intron|NIF3L1_uc002uwo.2_Intron|NIF3L1_uc002uwp.2_Intron|NIF3L1_uc002uwq.2_Intron	NM_001136039	NP_001129511			NIF3 NGG1 interacting factor 3-like 1 isoform 1						positive regulation of transcription, DNA-dependent		transcription factor binding			skin(1)	1																		---	---	---	---
CASP8	841	broad.mit.edu	37	2	202136270	202136270	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:202136270A>C	uc002uxr.1	+	4	546	c.337A>C	c.(337-339)AGC>CGC	p.S113R	CASP8_uc010ftc.1_Missense_Mutation_p.S113R|CASP8_uc002uxo.1_Missense_Mutation_p.S113R|CASP8_uc002uxp.1_Missense_Mutation_p.S145R|CASP8_uc002uxq.1_Missense_Mutation_p.S113R|CASP8_uc002uxs.1_Missense_Mutation_p.S113R|CASP8_uc002uxt.1_Missense_Mutation_p.S172R|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Missense_Mutation_p.S10R|CASP8_uc002uxv.1_Missense_Mutation_p.S113R|CASP8_uc002uxw.1_Missense_Mutation_p.S113R|CASP8_uc002uxy.1_Missense_Mutation_p.S113R|CASP8_uc002uxx.1_Missense_Mutation_p.S113R|CASP8_uc010ftf.2_Missense_Mutation_p.S113R|CASP8_uc010fte.1_Missense_Mutation_p.S10R	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	113	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)			---	---	---	---
BMPR2	659	broad.mit.edu	37	2	203329571	203329571	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:203329571C>T	uc002uzf.3	+	2	1264	c.116C>T	c.(115-117)CCG>CTG	p.P39L	BMPR2_uc010ftr.2_Missense_Mutation_p.P39L|BMPR2_uc002uze.2_Missense_Mutation_p.P39L	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	39	Extracellular (Potential).				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9																		---	---	---	---
ABI2	10152	broad.mit.edu	37	2	204281623	204281623	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:204281623G>A	uc002vaa.2	+						ABI2_uc002uzz.2_Intron|ABI2_uc010zih.1_Intron|ABI2_uc010zii.1_Intron|ABI2_uc010zij.1_Intron|ABI2_uc002vab.2_Intron|ABI2_uc010zik.1_Intron|ABI2_uc010zil.1_Intron|ABI2_uc010zim.1_Intron|ABI2_uc002vac.2_Intron|ABI2_uc010zin.1_Intron	NM_005759	NP_005750			abl interactor 2						actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding				0																		---	---	---	---
RAPH1	65059	broad.mit.edu	37	2	204354393	204354393	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:204354393C>A	uc002vad.2	-	4	871	c.646G>T	c.(646-648)GCC>TCC	p.A216S	RAPH1_uc002vae.2_Missense_Mutation_p.A216S|RAPH1_uc002vaf.2_Missense_Mutation_p.A216S	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Ras association and pleckstrin homology domains	216					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																		---	---	---	---
ZDBF2	57683	broad.mit.edu	37	2	207172264	207172264	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207172264T>C	uc002vbp.2	+	5	3262	c.3012T>C	c.(3010-3012)TCT>TCC	p.S1004S		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1004							nucleic acid binding|zinc ion binding			ovary(3)	3																		---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	215884381	215884381	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:215884381G>A	uc002vew.2	-	12	1647	c.1427C>T	c.(1426-1428)GCG>GTG	p.A476V	ABCA12_uc002vev.2_Missense_Mutation_p.A158V|ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	476			A -> V (in a pancreatic ductal adenocarcinoma sample; somatic mutation).		cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.A476V(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)														---	---	---	---
BCS1L	617	broad.mit.edu	37	2	219527931	219527931	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219527931T>C	uc002vio.2	+	8	1500	c.1082T>C	c.(1081-1083)CTG>CCG	p.L361P	BCS1L_uc002vip.2_Missense_Mutation_p.L361P|BCS1L_uc002viq.2_Missense_Mutation_p.L361P|BCS1L_uc010fvu.2_Missense_Mutation_p.L361P|BCS1L_uc010fvv.2_Missense_Mutation_p.L361P|BCS1L_uc002vir.2_Missense_Mutation_p.L361P|BCS1L_uc002vis.2_Missense_Mutation_p.L361P	NM_004328	NP_004319	Q9Y276	BCS1_HUMAN	BCS1-like	361	Mitochondrial matrix (Potential).				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)														---	---	---	---
CDK5R2	8941	broad.mit.edu	37	2	219825256	219825256	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219825256C>T	uc002vjf.2	+	1	859	c.714C>T	c.(712-714)TTC>TTT	p.F238F		NM_003936	NP_003927	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2	238					regulation of cyclin-dependent protein kinase activity	cyclin-dependent protein kinase 5 holoenzyme complex	cyclin-dependent protein kinase 5 activator activity			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
ATG9A	79065	broad.mit.edu	37	2	220090126	220090126	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220090126C>T	uc002vke.1	-						ATG9A_uc002vkd.1_Intron|ATG9A_uc002vkf.1_Intron	NM_001077198	NP_001070666			APG9 autophagy 9-like 1						autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
CHPF	79586	broad.mit.edu	37	2	220404687	220404687	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220404687C>T	uc002vmc.3	-	4	1973	c.1746G>A	c.(1744-1746)GTG>GTA	p.V582V	CHPF_uc010zlh.1_Silent_p.V420V	NM_024536	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	582	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|protein binding				0		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)														---	---	---	---
KIAA1486	57624	broad.mit.edu	37	2	226446717	226446717	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:226446717C>T	uc002voe.2	+	4	759	c.584C>T	c.(583-585)CCG>CTG	p.P195L	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_5'UTR	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	195										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	227663080	227663080	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:227663080C>T	uc002voh.3	-	1	427	c.375G>A	c.(373-375)GCG>GCA	p.A125A		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	125	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)	---	---	---	---
COL4A4	1286	broad.mit.edu	37	2	227919390	227919390	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:227919390C>T	uc010zlt.1	-	31	3434	c.2780G>A	c.(2779-2781)GGA>GAA	p.G927E		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	927	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)														---	---	---	---
TRIP12	9320	broad.mit.edu	37	2	230650558	230650558	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:230650558C>T	uc002vpw.1	-	33	4893	c.4784G>A	c.(4783-4785)CGA>CAA	p.R1595Q	TRIP12_uc002vpx.1_Missense_Mutation_p.R1643Q|TRIP12_uc002vpy.1_Missense_Mutation_p.R1325Q	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1595					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)														---	---	---	---
SP110	3431	broad.mit.edu	37	2	231042289	231042289	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:231042289G>A	uc002vqh.3	-	14	1795	c.1555C>T	c.(1555-1557)CGT>TGT	p.R519C	SP110_uc002vqg.3_Missense_Mutation_p.R519C|SP110_uc002vqi.3_Missense_Mutation_p.R519C|SP110_uc010fxk.2_Missense_Mutation_p.R517C|SP110_uc010fxj.2_Missense_Mutation_p.R162C	NM_004509	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein isoform a	519	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	231134619	231134619	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:231134619A>G	uc002vql.2	+	14	1510	c.1395A>G	c.(1393-1395)CCA>CCG	p.P465P	SP140_uc010zma.1_RNA|SP140_uc002vqn.2_Silent_p.P351P|SP140_uc002vqm.2_Silent_p.P405P|SP140_uc010fxl.2_Silent_p.P438P	NM_007237	NP_009168	Q13342	LY10_HUMAN	SP140 nuclear body protein isoform 1	465					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)														---	---	---	---
CHRND	1144	broad.mit.edu	37	2	233398812	233398812	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233398812C>T	uc002vsw.2	+	10	1223	c.1219C>T	c.(1219-1221)CGG>TGG	p.R407W	CHRND_uc010zmg.1_Missense_Mutation_p.R392W|CHRND_uc010fyc.2_Missense_Mutation_p.R280W|CHRND_uc010zmh.1_Missense_Mutation_p.R213W	NM_000751	NP_000742	Q07001	ACHD_HUMAN	nicotinic acetylcholine receptor delta	407	Cytoplasmic (Potential).				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)|breast(1)|skin(1)	3		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;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)														---	---	---	---
GIGYF2	26058	broad.mit.edu	37	2	233684582	233684582	+	Nonsense_Mutation	SNP	C	T	T	rs13002284		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233684582C>T	uc002vti.3	+	23	2753	c.2416C>T	c.(2416-2418)CGA>TGA	p.R806*	GIGYF2_uc002vtg.2_Nonsense_Mutation_p.R800*|GIGYF2_uc002vtj.3_Nonsense_Mutation_p.R827*|GIGYF2_uc002vtk.3_Nonsense_Mutation_p.R806*|GIGYF2_uc002vth.3_Nonsense_Mutation_p.R800*|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Nonsense_Mutation_p.R637*|GIGYF2_uc002vtq.3_Nonsense_Mutation_p.R139*	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2 isoform b	806	Gln-rich.|Glu-rich.				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)														---	---	---	---
AGAP1	116987	broad.mit.edu	37	2	236403404	236403404	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:236403404C>A	uc002vvs.2	+	1	669	c.74C>A	c.(73-75)CCC>CAC	p.P25H	AGAP1_uc002vvt.2_Missense_Mutation_p.P25H	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	25					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																		---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238285718	238285718	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238285718C>T	uc002vwl.2	-	7	3052	c.2767G>A	c.(2767-2769)GCA>ACA	p.A923T	COL6A3_uc002vwo.2_Missense_Mutation_p.A717T|COL6A3_uc010znj.1_Missense_Mutation_p.A316T|COL6A3_uc002vwq.2_Missense_Mutation_p.A717T|COL6A3_uc002vwr.2_Missense_Mutation_p.A516T|COL6A3_uc010znk.1_Missense_Mutation_p.A723T	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	923	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	238287277	238287277	+	Splice_Site	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238287277A>G	uc002vwl.2	-	6	2782	c.2497_splice	c.e6+1	p.E833_splice	COL6A3_uc002vwo.2_Splice_Site_p.E627_splice|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Splice_Site_p.E627_splice|COL6A3_uc002vwr.2_Splice_Site_p.E426_splice|COL6A3_uc010znk.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)														---	---	---	---
TRAF3IP1	26146	broad.mit.edu	37	2	239306240	239306240	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:239306240C>T	uc002vye.2	+	16	1949	c.1830C>T	c.(1828-1830)GAC>GAT	p.D610D	TRAF3IP1_uc002vyf.2_Silent_p.D544D	NM_015650	NP_056465	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting	610	Potential.|DISC1-interaction domain.					cytoplasm|cytoskeleton	protein binding			ovary(1)	1		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)														---	---	---	---
SNED1	25992	broad.mit.edu	37	2	241987861	241987861	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:241987861C>T	uc002wah.1	+							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)														---	---	---	---
PASK	23178	broad.mit.edu	37	2	242076594	242076594	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242076594C>T	uc002wao.1	-	7	1054	c.962G>A	c.(961-963)AGC>AAC	p.S321N	PASK_uc010zol.1_Missense_Mutation_p.S135N|PASK_uc010zom.1_Missense_Mutation_p.S286N|PASK_uc010fzl.1_Missense_Mutation_p.S321N|PASK_uc010zon.1_Missense_Mutation_p.S102N|PASK_uc002wap.2_5'Flank|PASK_uc002waq.2_Missense_Mutation_p.S321N	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	321					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|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;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)														---	---	---	---
ANO7	50636	broad.mit.edu	37	2	242163549	242163549	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242163549C>T	uc002wax.2	+	25	2886	c.2783C>T	c.(2782-2784)GCC>GTC	p.A928V		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	928	Cytoplasmic (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3																		---	---	---	---
HDLBP	3069	broad.mit.edu	37	2	242170236	242170236	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242170236C>T	uc002waz.2	-	25	3640	c.3412G>A	c.(3412-3414)GTT>ATT	p.V1138I	HDLBP_uc002wba.2_Missense_Mutation_p.V1138I|HDLBP_uc002wbb.2_Missense_Mutation_p.V1090I	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1138	KH 14.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)														---	---	---	---
FARP2	9855	broad.mit.edu	37	2	242432348	242432348	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242432348A>G	uc002wbi.1	+	25	2909	c.2792A>G	c.(2791-2793)CAG>CGG	p.Q931R		NM_014808	NP_055623	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	931	PH 2.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)														---	---	---	---
C2orf85	285093	broad.mit.edu	37	2	242815428	242815428	+	3'UTR	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242815428G>A	uc010fzu.1	+	2						NM_173821	NP_776182			hypothetical protein LOC285093							integral to membrane				ovary(1)	1																		---	---	---	---
ITPR1	3708	broad.mit.edu	37	3	4709083	4709083	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:4709083G>T	uc003bqa.2	+	18	2084	c.1736G>T	c.(1735-1737)GGC>GTC	p.G579V	ITPR1_uc010hca.1_Missense_Mutation_p.G564V|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.G564V	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	579	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)														---	---	---	---
LMCD1	29995	broad.mit.edu	37	3	8590329	8590329	+	Missense_Mutation	SNP	C	T	T	rs145385804	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:8590329C>T	uc003bqq.2	+	4	577	c.463C>T	c.(463-465)CGC>TGC	p.R155C	LMCD1_uc011atd.1_Missense_Mutation_p.R82C|LMCD1_uc011ate.1_Missense_Mutation_p.R43C|LMCD1_uc011atf.1_Missense_Mutation_p.R82C	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	155	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)														---	---	---	---
BRPF1	7862	broad.mit.edu	37	3	9776020	9776020	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9776020C>T	uc003bse.2	+	2	595	c.196C>T	c.(196-198)CGC>TGC	p.R66C	BRPF1_uc003bsf.2_Missense_Mutation_p.R66C|BRPF1_uc003bsg.2_Missense_Mutation_p.R66C|BRPF1_uc011ati.1_Missense_Mutation_p.R66C	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	66	Interaction with MYST3 and MYST4.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)																	---	---	---	---
BRPF1	7862	broad.mit.edu	37	3	9776143	9776143	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9776143G>A	uc003bse.2	+	2	718	c.319G>A	c.(319-321)GTC>ATC	p.V107I	BRPF1_uc003bsf.2_Missense_Mutation_p.V107I|BRPF1_uc003bsg.2_Missense_Mutation_p.V107I|BRPF1_uc011ati.1_Missense_Mutation_p.V107I	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	107	Interaction with MYST3 and MYST4.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)																	---	---	---	---
PPARG	5468	broad.mit.edu	37	3	12458573	12458573	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:12458573A>G	uc003bwx.2	+	6	1281	c.1190A>G	c.(1189-1191)GAG>GGG	p.E397G	PPARG_uc003bwr.2_Missense_Mutation_p.E369G|PPARG_uc003bws.2_Missense_Mutation_p.E369G|PPARG_uc003bwu.2_Missense_Mutation_p.E369G|PPARG_uc003bwv.2_Intron|PPARG_uc010hea.1_RNA	NM_015869	NP_056953	P37231	PPARG_HUMAN	peroxisome proliferative activated receptor	397	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|kidney(1)	2					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)			T	PAX8	follicular thyroid		Insulin resistance ; lipodystrophy|familial partial L;diabetes mellitus|insulin-resistantI|with acanthosis nigricans and hypertension						---	---	---	---
NR2C2	7182	broad.mit.edu	37	3	15045441	15045441	+	Missense_Mutation	SNP	G	A	A	rs146761800		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:15045441G>A	uc003bzj.3	+	2	237	c.20G>A	c.(19-21)CGC>CAC	p.R7H	NR2C2_uc003bzi.2_Missense_Mutation_p.R7H	NM_003298	NP_003289	P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	7					cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding				0																		---	---	---	---
ANKRD28	23243	broad.mit.edu	37	3	15755084	15755084	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:15755084G>A	uc003caj.1	-	10	1193	c.1050C>T	c.(1048-1050)GGC>GGT	p.G350G	ANKRD28_uc003cai.1_Silent_p.G196G|ANKRD28_uc011avz.1_Silent_p.G196G|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Silent_p.G380G|ANKRD28_uc003cam.2_Silent_p.G383G	NM_015199	NP_056014	O15084	ANR28_HUMAN	ankyrin repeat domain 28	350	ANK 10.					nucleoplasm	protein binding			breast(1)	1																		---	---	---	---
PLCD1	5333	broad.mit.edu	37	3	38052911	38052911	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38052911G>T	uc003chn.2	-	5	708	c.584C>A	c.(583-585)TCC>TAC	p.S195Y	PLCD1_uc003chm.2_Missense_Mutation_p.S216Y	NM_006225	NP_006216	P51178	PLCD1_HUMAN	phospholipase C, delta 1 isoform 2	195	2 (Potential).|EF-hand 2.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)														---	---	---	---
XYLB	9942	broad.mit.edu	37	3	38404473	38404473	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38404473T>A	uc003cic.2	+	4	365	c.256T>A	c.(256-258)TTC>ATC	p.F86I	XYLB_uc011ayp.1_Intron|XYLB_uc003cid.1_Missense_Mutation_p.F8I	NM_005108	NP_005099	O75191	XYLB_HUMAN	xylulokinase	86					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)														---	---	---	---
TTC21A	199223	broad.mit.edu	37	3	39174572	39174572	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39174572G>A	uc003cjc.2	+	20	2790	c.2613G>A	c.(2611-2613)AAG>AAA	p.K871K	TTC21A_uc003cje.2_Silent_p.K872K|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Silent_p.K823K|TTC21A_uc011ayy.1_5'UTR|TTC21A_uc003cjf.2_5'UTR	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 2	871							binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)														---	---	---	---
MOBP	4336	broad.mit.edu	37	3	39543775	39543775	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39543775C>T	uc010hht.2	+						MOBP_uc003cju.2_Intron|MOBP_uc003cjv.2_Intron|MOBP_uc003cjw.2_Intron|MOBP_uc003cjx.2_Intron|MOBP_uc003cjy.2_Intron	NM_182935	NP_891980			myelin-associated oligodendrocyte basic protein						nervous system development	nucleolus|perinuclear region of cytoplasm|soluble fraction				ovary(1)|central_nervous_system(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.082)|Kidney(284;0.0998)														---	---	---	---
TRAK1	22906	broad.mit.edu	37	3	42264629	42264629	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42264629C>T	uc003cky.2	+	16	2478	c.2262C>T	c.(2260-2262)TAC>TAT	p.Y754Y	TRAK1_uc011azi.1_Silent_p.Y733Y	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	754					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																		---	---	---	---
ZBTB47	92999	broad.mit.edu	37	3	42701286	42701286	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42701286T>A	uc003clu.1	+	1	413	c.311T>A	c.(310-312)CTG>CAG	p.L104Q		NM_145166	NP_660149	Q9UFB7	ZBT47_HUMAN	zinc finger protein 651	104	C2H2-type 2; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.216)														---	---	---	---
CCDC13	152206	broad.mit.edu	37	3	42777197	42777197	+	Splice_Site	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42777197A>G	uc003cly.3	-	10	1455	c.1371_splice	c.e10+1	p.H457_splice		NM_144719	NP_653320			coiled-coil domain containing 13											ovary(1)	1																		---	---	---	---
ZNF167	55888	broad.mit.edu	37	3	44598765	44598765	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:44598765C>T	uc010hin.2	+	2	614	c.226C>T	c.(226-228)CGG>TGG	p.R76W	ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Missense_Mutation_p.R76W|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Missense_Mutation_p.R76W|ZNF167_uc003cnk.2_Missense_Mutation_p.R76W	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	zinc finger protein 167 isoform 1	76	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)														---	---	---	---
KIF15	56992	broad.mit.edu	37	3	44816853	44816853	+	Missense_Mutation	SNP	C	T	T	rs147576633		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:44816853C>T	uc003cnx.3	+	3	319	c.170C>T	c.(169-171)ACG>ATG	p.T57M	KIF15_uc010hiq.2_Translation_Start_Site	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	57	Kinesin-motor.				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)														---	---	---	---
FYCO1	79443	broad.mit.edu	37	3	46008021	46008021	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46008021G>A	uc003cpb.3	-	8	3011	c.2805C>T	c.(2803-2805)GAC>GAT	p.D935D	FYCO1_uc011bal.1_Silent_p.D935D	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	935	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)														---	---	---	---
PTPN23	25930	broad.mit.edu	37	3	47453286	47453286	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47453286G>A	uc003crf.1	+	21	3998	c.3902G>A	c.(3901-3903)CGC>CAC	p.R1301H	PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.R1171H|uc003cri.2_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	1301	Tyrosine-protein phosphatase.				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	47460866	47460866	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47460866C>T	uc003crh.1	-	13	2147	c.1892G>A	c.(1891-1893)CGC>CAC	p.R631H	SCAP_uc011baz.1_Missense_Mutation_p.R376H|SCAP_uc003crg.2_Missense_Mutation_p.R239H	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	631	Lumenal (By similarity).				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)														---	---	---	---
USP4	7375	broad.mit.edu	37	3	49321537	49321537	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49321537G>A	uc003cwq.2	-	19	2502	c.2423C>T	c.(2422-2424)GCC>GTC	p.A808V	USP4_uc003cwo.2_Missense_Mutation_p.A520V|USP4_uc003cwp.2_Missense_Mutation_p.A538V|USP4_uc003cwr.2_Missense_Mutation_p.A761V	NM_003363	NP_003354	Q13107	UBP4_HUMAN	ubiquitin specific protease 4 isoform a	808					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	49689135	49689135	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49689135C>T	uc003cxe.3	+	5	2260	c.2146C>T	c.(2146-2148)CCA>TCA	p.P716S		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	716					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)														---	---	---	---
UBA7	7318	broad.mit.edu	37	3	49850959	49850959	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49850959T>C	uc003cxr.2	-	2	349	c.178A>G	c.(178-180)ACT>GCT	p.T60A		NM_003335	NP_003326	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	60	2 approximate repeats.|1-1.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)														---	---	---	---
CAMKV	79012	broad.mit.edu	37	3	49898646	49898646	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49898646T>C	uc003cxt.1	-	6	722	c.529A>G	c.(529-531)ATC>GTC	p.I177V	CAMKV_uc011bcy.1_Missense_Mutation_p.I102V|CAMKV_uc003cxv.1_Missense_Mutation_p.I177V|CAMKV_uc003cxw.1_5'UTR|CAMKV_uc003cxx.1_5'UTR|CAMKV_uc003cxu.2_Missense_Mutation_p.I177V|CAMKV_uc011bcz.1_Missense_Mutation_p.I140V|CAMKV_uc011bda.1_Missense_Mutation_p.I134V|CAMKV_uc011bdb.1_RNA	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	177	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)														---	---	---	---
RBM6	10180	broad.mit.edu	37	3	50005642	50005642	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50005642C>T	uc003cyc.2	+	3	917	c.784C>T	c.(784-786)CGA>TGA	p.R262*	RBM6_uc011bdh.1_RNA|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	P78332	RBM6_HUMAN	RNA binding motif protein 6	262					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	51418626	51418626	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51418626G>A	uc011bds.1	+	53	5752	c.5729G>A	c.(5728-5730)CGC>CAC	p.R1910H		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1910						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)														---	---	---	---
TEX264	51368	broad.mit.edu	37	3	51708379	51708379	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51708379C>T	uc010hls.2	+	3	228	c.59C>T	c.(58-60)ACG>ATG	p.T20M	TEX264_uc003dbk.3_Missense_Mutation_p.T20M|TEX264_uc010hlt.2_Intron|TEX264_uc003dbl.3_Missense_Mutation_p.T20M|TEX264_uc003dbm.3_Missense_Mutation_p.T59M	NM_001129884	NP_001123356	Q9Y6I9	TX264_HUMAN	testis expressed 264 precursor	20						extracellular region					0				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)														---	---	---	---
GRM2	2912	broad.mit.edu	37	3	51746637	51746637	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51746637G>A	uc010hlv.2	+	3	838	c.599G>A	c.(598-600)CGC>CAC	p.R200H	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	200	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)													---	---	---	---
GRM2	2912	broad.mit.edu	37	3	51746765	51746765	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51746765C>T	uc010hlv.2	+	3	966	c.727C>T	c.(727-729)CGT>TGT	p.R243C	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	243	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)													---	---	---	---
SFMBT1	51460	broad.mit.edu	37	3	52941085	52941085	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52941085C>A	uc003dgf.2	-	20	2900	c.2331G>T	c.(2329-2331)AAG>AAT	p.K777N	SFMBT1_uc010hmr.2_Missense_Mutation_p.K724N|SFMBT1_uc003dgg.2_Missense_Mutation_p.K777N|SFMBT1_uc003dgh.2_Missense_Mutation_p.K777N	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	777					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)														---	---	---	---
SLMAP	7871	broad.mit.edu	37	3	57913112	57913112	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:57913112A>G	uc003dje.1	+	22	2689	c.2484A>G	c.(2482-2484)CCA>CCG	p.P828P	SLMAP_uc003djd.1_Silent_p.P811P|SLMAP_uc003djf.1_Silent_p.P790P|SLMAP_uc003djg.1_3'UTR|SLMAP_uc011bez.1_Silent_p.P296P|SLMAP_uc011bfa.1_Silent_p.P362P|SLMAP_uc003dji.1_3'UTR|SLMAP_uc011bfb.1_Silent_p.P362P|SLMAP_uc011bfc.1_3'UTR	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	828	Extracellular (Potential).				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding				0				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)														---	---	---	---
FRMD4B	23150	broad.mit.edu	37	3	69246143	69246143	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:69246143G>A	uc003dnv.2	-	13	1290	c.1000C>T	c.(1000-1002)CAA>TAA	p.Q334*	FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnu.2_5'UTR|FRMD4B_uc011bga.1_Nonsense_Mutation_p.Q178*	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	334	FERM.					cytoplasm|cytoskeleton	binding			ovary(3)|central_nervous_system(1)	4		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)														---	---	---	---
PDZRN3	23024	broad.mit.edu	37	3	73433872	73433872	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:73433872G>A	uc003dpl.1	-	10	1941	c.1845C>T	c.(1843-1845)AGC>AGT	p.S615S	PDZRN3_uc011bgh.1_Silent_p.S272S|PDZRN3_uc010hoe.1_Silent_p.S313S|PDZRN3_uc011bgf.1_Silent_p.S332S|PDZRN3_uc011bgg.1_Silent_p.S335S	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	615							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)														---	---	---	---
IMPG2	50939	broad.mit.edu	37	3	100986374	100986374	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100986374A>G	uc003duq.1	-	9	1092	c.889T>C	c.(889-891)TCC>CCC	p.S297P	IMPG2_uc011bhe.1_Missense_Mutation_p.S160P	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	297	Extracellular (Potential).|SEA 1.				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																		---	---	---	---
DPPA2	151871	broad.mit.edu	37	3	109027089	109027089	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:109027089G>A	uc003dxo.2	-	6	695	c.448C>T	c.(448-450)CGC>TGC	p.R150C		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	150						nucleus	nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)	3																		---	---	---	---
PHLDB2	90102	broad.mit.edu	37	3	111564664	111564664	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:111564664G>A	uc003dyc.2	+						PLCXD2_uc003dya.2_Intron|PLCXD2_uc003dxz.2_Intron	NM_001134437	NP_001127909			pleckstrin homology-like domain, family B,							cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6																		---	---	---	---
DRD3	1814	broad.mit.edu	37	3	113850211	113850211	+	Missense_Mutation	SNP	G	A	A	rs149736958	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113850211G>A	uc003ebd.2	-	7	1183	c.760C>T	c.(760-762)CGT>TGT	p.R254C	DRD3_uc010hqn.1_Missense_Mutation_p.R254C|DRD3_uc003ebb.1_Missense_Mutation_p.R254C|DRD3_uc003ebc.1_Missense_Mutation_p.R254C	NM_000796	NP_000787	P35462	DRD3_HUMAN	dopamine receptor D3 isoform a	254	Cytoplasmic.				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.R254H(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)													---	---	---	---
NR1I2	8856	broad.mit.edu	37	3	119534274	119534274	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:119534274C>A	uc003edj.2	+	7	2881	c.1042C>A	c.(1042-1044)CTC>ATC	p.L348I	NR1I2_uc003edi.2_Missense_Mutation_p.L311I|NR1I2_uc003edk.2_Missense_Mutation_p.L387I|NR1I2_uc003edl.2_Missense_Mutation_p.L236I	NM_003889	NP_003880	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	348	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)													---	---	---	---
PARP9	83666	broad.mit.edu	37	3	122274498	122274498	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122274498A>G	uc010hri.2	-	4	770	c.625T>C	c.(625-627)TGT>CGT	p.C209R	PARP9_uc003eff.3_Missense_Mutation_p.C174R|PARP9_uc011bjs.1_Missense_Mutation_p.C174R|PARP9_uc003efg.2_Intron|PARP9_uc003efi.2_Missense_Mutation_p.C174R|PARP9_uc003efh.2_Missense_Mutation_p.C209R|PARP9_uc003efj.2_Missense_Mutation_p.C174R	NM_001146102	NP_001139574	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	209	Macro 1.				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)														---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124431994	124431994	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124431994C>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																		---	---	---	---
MCM2	4171	broad.mit.edu	37	3	127335932	127335932	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:127335932G>T	uc003ejp.2	+	10	1801	c.1744G>T	c.(1744-1746)GGA>TGA	p.G582*	MCM2_uc011bkm.1_Nonsense_Mutation_p.G452*|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Nonsense_Mutation_p.G535*	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	582	MCM.				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																		---	---	---	---
IFT122	55764	broad.mit.edu	37	3	129221612	129221612	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129221612G>A	uc003emm.2	+	20	2640	c.2434G>A	c.(2434-2436)GCT>ACT	p.A812T	IFT122_uc003eml.2_Missense_Mutation_p.A863T|IFT122_uc003emn.2_Missense_Mutation_p.A753T|IFT122_uc003emo.2_Missense_Mutation_p.A701T|IFT122_uc003emp.2_Missense_Mutation_p.A662T|IFT122_uc010htc.2_Missense_Mutation_p.A804T|IFT122_uc011bky.1_Missense_Mutation_p.A603T|IFT122_uc003emq.2_Missense_Mutation_p.A652T|IFT122_uc003emr.2_Missense_Mutation_p.A564T|IFT122_uc011bla.1_Missense_Mutation_p.A585T|IFT122_uc010hte.2_Missense_Mutation_p.A138T|IFT122_uc003ems.2_Missense_Mutation_p.A193T|IFT122_uc011bkx.1_Missense_Mutation_p.A652T|IFT122_uc010htd.1_Missense_Mutation_p.A291T	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	812					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																		---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130287372	130287372	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130287372T>C	uc010htl.2	+	5	2356	c.2325T>C	c.(2323-2325)GTT>GTC	p.V775V		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	775	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8																		---	---	---	---
ACAD11	84129	broad.mit.edu	37	3	132322160	132322160	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132322160C>A	uc003eov.3	-	13	1914	c.1534G>T	c.(1534-1536)GCT>TCT	p.A512S	ACAD11_uc011blr.1_Missense_Mutation_p.A123S	NM_032169	NP_115545	Q709F0	ACD11_HUMAN	putative acyl-CoA dehydrogenase	512	FAD.|FAD.					peroxisome	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups			ovary(1)	1																		---	---	---	---
DZIP1L	199221	broad.mit.edu	37	3	137790602	137790602	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:137790602G>A	uc003erq.2	-	12	1861	c.1498C>T	c.(1498-1500)CGG>TGG	p.R500W	DZIP1L_uc003err.1_Missense_Mutation_p.R500W	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	500						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2																		---	---	---	---
ATR	545	broad.mit.edu	37	3	142277486	142277486	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:142277486C>T	uc003eux.3	-	8	1987	c.1865G>A	c.(1864-1866)TGT>TAT	p.C622Y		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	622					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					---	---	---	---
C3orf58	205428	broad.mit.edu	37	3	143708636	143708636	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:143708636A>G	uc003evo.2	+	3	1781	c.1246A>G	c.(1246-1248)AAA>GAA	p.K416E	C3orf58_uc011bnl.1_Missense_Mutation_p.K207E	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN	hypothetical protein LOC205428 isoform a	416						COPI vesicle coat|extracellular region				ovary(1)	1																		---	---	---	---
ZIC4	84107	broad.mit.edu	37	3	147114073	147114073	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:147114073C>A	uc003ewd.1	-	3	527	c.254G>T	c.(253-255)CGC>CTC	p.R85L	ZIC4_uc003ewc.1_Missense_Mutation_p.R15L|ZIC4_uc011bno.1_Missense_Mutation_p.R135L	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	85						nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2																		---	---	---	---
P2RY14	9934	broad.mit.edu	37	3	150931269	150931269	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:150931269A>G	uc003eyr.1	-	3	1314	c.836T>C	c.(835-837)TTC>TCC	p.F279S	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY14_uc003eys.1_Missense_Mutation_p.F279S	NM_001081455	NP_001074924	Q15391	P2Y14_HUMAN	P2Y14 receptor	279	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			large_intestine(2)|ovary(1)|lung(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
MBNL1	4154	broad.mit.edu	37	3	152165478	152165478	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:152165478G>A	uc003ezm.2	+	6	1720	c.931G>A	c.(931-933)GCA>ACA	p.A311T	MBNL1_uc003ezh.2_Missense_Mutation_p.A293T|MBNL1_uc003ezi.2_Missense_Mutation_p.A293T|MBNL1_uc003ezj.2_Missense_Mutation_p.A254T|MBNL1_uc003ezl.2_Missense_Mutation_p.A293T|MBNL1_uc003ezp.2_Intron|MBNL1_uc003ezn.2_Missense_Mutation_p.A225T|MBNL1_uc003ezo.2_Missense_Mutation_p.A225T|MBNL1_uc010hvp.2_Intron	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	muscleblind-like 1 isoform c	311					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)															---	---	---	---
DHX36	170506	broad.mit.edu	37	3	154006670	154006670	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:154006670T>C	uc003ezy.3	-	17	2097	c.2016A>G	c.(2014-2016)AGA>AGG	p.R672R	DHX36_uc010hvq.2_Silent_p.R658R|DHX36_uc003ezz.3_Silent_p.R672R	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	672						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)															---	---	---	---
BCHE	590	broad.mit.edu	37	3	165548072	165548072	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:165548072C>T	uc003fem.3	-	2	910	c.750G>A	c.(748-750)CTG>CTA	p.L250L	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	250					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)													---	---	---	---
ZBBX	79740	broad.mit.edu	37	3	167083663	167083663	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:167083663T>C	uc003fep.2	-						ZBBX_uc011bpc.1_Intron|ZBBX_uc003feq.2_Intron	NM_024687	NP_078963			zinc finger, B-box domain containing							intracellular	zinc ion binding			ovary(2)	2																		---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178928348	178928348	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:178928348G>T	uc003fjk.2	+	9	1691	c.1534G>T	c.(1534-1536)GGA>TGA	p.G512*		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	512					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)			---	---	---	---
GNB4	59345	broad.mit.edu	37	3	179131207	179131207	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179131207G>C	uc003fjv.3	-	8	972	c.692C>G	c.(691-693)GCT>GGT	p.A231G	GNB4_uc003fju.3_Missense_Mutation_p.A142G	NM_021629	NP_067642	Q9HAV0	GBB4_HUMAN	guanine nucleotide-binding protein, beta-4	231	WD 5.				cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			skin(2)	2	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)															---	---	---	---
YEATS2	55689	broad.mit.edu	37	3	183521825	183521825	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183521825G>A	uc003fly.2	+	27	3828	c.3633G>A	c.(3631-3633)AAG>AAA	p.K1211K	uc003fma.1_3'UTR	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1211					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)															---	---	---	---
HTR3C	170572	broad.mit.edu	37	3	183778041	183778041	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183778041G>T	uc003fmk.2	+	9	1279	c.1245G>T	c.(1243-1245)TGG>TGT	p.W415C		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine receptor 3 subunit C	415	Cytoplasmic (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)															---	---	---	---
CLCN2	1181	broad.mit.edu	37	3	184064539	184064539	+	Missense_Mutation	SNP	C	T	T	rs149460784		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184064539C>T	uc003foi.2	-	24	2676	c.2552G>A	c.(2551-2553)CGG>CAG	p.R851Q	CLCN2_uc003foh.2_Missense_Mutation_p.R340Q|CLCN2_uc010hya.1_Missense_Mutation_p.R834Q|CLCN2_uc011brl.1_Missense_Mutation_p.R822Q|CLCN2_uc011brm.1_Missense_Mutation_p.R807Q	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	851	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)													---	---	---	---
EPHB3	2049	broad.mit.edu	37	3	184290449	184290449	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184290449G>A	uc003foz.2	+	3	778	c.341G>A	c.(340-342)CGT>CAT	p.R114H		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	114	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)															---	---	---	---
LEPREL1	55214	broad.mit.edu	37	3	189689785	189689785	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:189689785T>C	uc011bsk.1	-	12	2099	c.1711A>G	c.(1711-1713)AGA>GGA	p.R571G	LEPREL1_uc003fsg.2_Missense_Mutation_p.R390G	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	leprecan-like 1 isoform a	571	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)													---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195515860	195515860	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:195515860G>A	uc011bto.1	-	2	3051	c.2591C>T	c.(2590-2592)GCG>GTG	p.A864V	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.A746V	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	869	Ser-rich.				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)														---	---	---	---
PCYT1A	5130	broad.mit.edu	37	3	195974240	195974240	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:195974240G>A	uc003fwg.2	-	6	657	c.484C>T	c.(484-486)CGG>TGG	p.R162W	PCYT1A_uc003fwh.2_Missense_Mutation_p.R162W	NM_005017	NP_005008	P49585	PCY1A_HUMAN	choline phosphate cytidylyltransferase 1 alpha	162	Catalytic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity				0	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-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;0.00259)	Choline(DB00122)													---	---	---	---
LRCH3	84859	broad.mit.edu	37	3	197593070	197593070	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:197593070T>G	uc011bul.1	+	17	1858	c.1853T>G	c.(1852-1854)GTC>GGC	p.V618G	LRCH3_uc003fyj.1_Missense_Mutation_p.V618G|LRCH3_uc011bum.1_Missense_Mutation_p.V566G|LRCH3_uc011bun.1_Missense_Mutation_p.V464G|LRCH3_uc003fyk.2_Missense_Mutation_p.V213G	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH)	618						extracellular region				ovary(1)	1	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)														---	---	---	---
CTBP1	1487	broad.mit.edu	37	4	1207290	1207290	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1207290G>A	uc003gcv.1	-	7	1162	c.997C>T	c.(997-999)CGG>TGG	p.R333W	uc003gcs.1_Intron|CTBP1_uc003gct.1_Missense_Mutation_p.R314W|CTBP1_uc003gcu.1_Missense_Mutation_p.R322W|CTBP1_uc003gcw.2_Missense_Mutation_p.R7W	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	C-terminal binding protein 1 isoform 1	333	Interaction with GLIS2 2 (By similarity).				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)														---	---	---	---
ZFYVE28	57732	broad.mit.edu	37	4	2306637	2306637	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:2306637C>A	uc003gex.1	-	8	1749	c.1430G>T	c.(1429-1431)AGC>ATC	p.S477I	ZFYVE28_uc011bvk.1_Missense_Mutation_p.S407I|ZFYVE28_uc011bvl.1_Missense_Mutation_p.S447I|ZFYVE28_uc003gew.1_Missense_Mutation_p.S363I	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	477					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																		---	---	---	---
EVC	2121	broad.mit.edu	37	4	5755505	5755505	+	Intron	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:5755505A>G	uc003gil.1	+						EVC_uc003gim.1_Intron|CRMP1_uc003gin.1_Intron	NM_153717	NP_714928			Ellis van Creveld syndrome protein						muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)																---	---	---	---
TBC1D14	57533	broad.mit.edu	37	4	6969156	6969156	+	Intron	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:6969156A>G	uc011bwg.1	+						TBC1D14_uc003gjs.3_Intron	NM_001113361	NP_001106832			TBC1 domain family, member 14 isoform a							intracellular	Rab GTPase activator activity			ovary(1)|pancreas(1)	2																		---	---	---	---
AFAP1	60312	broad.mit.edu	37	4	7802207	7802207	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:7802207G>A	uc003gkg.1	-	10	1501	c.1228C>T	c.(1228-1230)CGG>TGG	p.R410W	AFAP1_uc011bwk.1_Missense_Mutation_p.R410W	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	410	PH 2.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0																		---	---	---	---
ACOX3	8310	broad.mit.edu	37	4	8398700	8398700	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:8398700C>A	uc010idk.2	-	9	1165	c.1020G>T	c.(1018-1020)GAG>GAT	p.E340D	ACOX3_uc003glc.3_Missense_Mutation_p.E340D|ACOX3_uc003gld.3_Missense_Mutation_p.E340D|ACOX3_uc003gle.1_Missense_Mutation_p.E245D	NM_003501	NP_003492	O15254	ACOX3_HUMAN	acyl-Coenzyme A oxidase 3 isoform a	340	Poly-Glu.				bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			central_nervous_system(1)	1																		---	---	---	---
CPEB2	132864	broad.mit.edu	37	4	15063798	15063798	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:15063798C>T	uc003gni.1	+	10	1543	c.1456C>T	c.(1456-1458)CGA>TGA	p.R486*	CPEB2_uc003gnj.1_Nonsense_Mutation_p.R456*|CPEB2_uc003gnk.1_Nonsense_Mutation_p.R494*|CPEB2_uc003gnl.1_Nonsense_Mutation_p.R467*|CPEB2_uc003gnm.1_Nonsense_Mutation_p.R464*|CPEB2_uc003gnn.1_Nonsense_Mutation_p.R459*	NM_182485	NP_872291	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding	486	RRM 2.				regulation of translation	cytoplasm	nucleotide binding|RNA binding			skin(1)	1																		---	---	---	---
QDPR	5860	broad.mit.edu	37	4	17493907	17493907	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:17493907C>T	uc003gpd.2	-	5	673	c.493G>A	c.(493-495)GCT>ACT	p.A165T	QDPR_uc003gpe.2_Missense_Mutation_p.A134T|QDPR_uc003gpf.2_Intron	NM_000320	NP_000311	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	165					dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			ovary(1)	1					NADH(DB00157)													---	---	---	---
KLB	152831	broad.mit.edu	37	4	39409172	39409172	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39409172A>G	uc003gua.2	+	1	700	c.603A>G	c.(601-603)GCA>GCG	p.A201A	KLB_uc011byj.1_Silent_p.A201A	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	201	Extracellular (Potential).|Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1																		---	---	---	---
RPL9	6133	broad.mit.edu	37	4	39458044	39458044	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39458044T>C	uc003gub.2	-	4	521	c.373A>G	c.(373-375)AGG>GGG	p.R125G	RPL9_uc003guc.2_Missense_Mutation_p.R125G|RPL9_uc011byk.1_RNA|RPL9_uc011byl.1_Missense_Mutation_p.R125G|LIAS_uc003gue.3_5'Flank|LIAS_uc011bym.1_5'Flank|LIAS_uc003guf.2_5'Flank|LIAS_uc003gug.2_5'Flank|LIAS_uc003guh.2_5'Flank	NM_001024921	NP_001020092	P32969	RL9_HUMAN	ribosomal protein L9	125					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|nucleolus|ribosome	rRNA binding|structural constituent of ribosome			skin(1)	1																		---	---	---	---
APBB2	323	broad.mit.edu	37	4	41016422	41016422	+	Intron	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:41016422A>G	uc003gvl.2	-						APBB2_uc003gvm.2_Intron|APBB2_uc003gvn.2_Intron|APBB2_uc011byt.1_5'Flank	NM_173075	NP_775098			amyloid beta A4 precursor protein-binding,						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																		---	---	---	---
KCTD8	386617	broad.mit.edu	37	4	44450159	44450159	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:44450159C>A	uc003gwu.2	-	1	666	c.382G>T	c.(382-384)GAG>TAG	p.E128*		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	128						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	44683221	44683221	+	Splice_Site	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:44683221G>A	uc003gww.3	+	4	714	c.507_splice	c.e4+1	p.E169_splice	GUF1_uc010ifz.1_Splice_Site	NM_021927	NP_068746			GUF1 GTPase homolog						translation	mitochondrial inner membrane	GTP binding|GTPase activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
CORIN	10699	broad.mit.edu	37	4	47682178	47682178	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47682178T>G	uc003gxm.2	-	8	1205	c.1112A>C	c.(1111-1113)AAG>ACG	p.K371T	CORIN_uc011bzf.1_Missense_Mutation_p.K232T|CORIN_uc011bzg.1_Missense_Mutation_p.K304T|CORIN_uc011bzh.1_Intron|CORIN_uc011bzi.1_Intron|CORIN_uc003gxn.3_3'UTR	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	371	Extracellular (Potential).|LDL-receptor class A 3.				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																		---	---	---	---
UBA6	55236	broad.mit.edu	37	4	68536191	68536191	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68536191C>T	uc003hdg.3	-	8	718	c.666G>A	c.(664-666)ACG>ACA	p.T222T	UBA6_uc003hdi.2_Silent_p.T222T|UBA6_uc003hdj.2_Silent_p.T222T	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	ubiquitin-activating enzyme E1-like 2	222					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0																		---	---	---	---
MUC7	4589	broad.mit.edu	37	4	71346631	71346631	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71346631C>T	uc011cat.1	+	4	458	c.170C>T	c.(169-171)CCG>CTG	p.P57L	MUC7_uc011cau.1_Missense_Mutation_p.P57L|MUC7_uc003hfj.2_Missense_Mutation_p.P57L|uc011cav.1_RNA	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	mucin 7, secreted precursor	57						extracellular region	protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4			Lung(101;0.211)															---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79400796	79400796	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:79400796G>T	uc003hlb.2	+	56	8807	c.8367G>T	c.(8365-8367)AAG>AAT	p.K2789N		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2784	Calx-beta 3.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5																		---	---	---	---
FAM175A	84142	broad.mit.edu	37	4	84391425	84391425	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:84391425G>A	uc003hou.2	-	5	472	c.407C>T	c.(406-408)ACA>ATA	p.T136I	FAM175A_uc003hot.2_5'Flank|FAM175A_uc003hov.2_Missense_Mutation_p.T27I	NM_139076	NP_620775	Q6UWZ7	F175A_HUMAN	coiled-coil domain containing 98	136					chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			kidney(1)	1																		---	---	---	---
NKX6-1	4825	broad.mit.edu	37	4	85419160	85419160	+	Silent	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85419160G>T	uc003hpa.1	-	1	228	c.222C>A	c.(220-222)CCC>CCA	p.P74P		NM_006168	NP_006159	P78426	NKX61_HUMAN	NK6 transcription factor related, locus 1	74					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)														---	---	---	---
GPRIN3	285513	broad.mit.edu	37	4	90170138	90170138	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:90170138C>T	uc003hsm.1	-	2	1643	c.1124G>A	c.(1123-1125)AGC>AAC	p.S375N		NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	G protein-regulated inducer of neurite outgrowth	375										ovary(3)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)														---	---	---	---
NHEDC1	150159	broad.mit.edu	37	4	103866441	103866441	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:103866441C>T	uc003hww.2	-	6	684	c.562G>A	c.(562-564)GCT>ACT	p.A188T	NHEDC1_uc003hwu.2_Missense_Mutation_p.A188T|NHEDC1_uc010ilm.2_Intron|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Intron	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Na+/H+ exchanger domain containing 1 isoform 1	188	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)														---	---	---	---
NPNT	255743	broad.mit.edu	37	4	106888380	106888380	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:106888380C>T	uc003hya.2	+	11	1586	c.1381C>T	c.(1381-1383)CCA>TCA	p.P461S	NPNT_uc011cfc.1_Missense_Mutation_p.P478S|NPNT_uc011cfd.1_Missense_Mutation_p.P491S|NPNT_uc011cfe.1_Missense_Mutation_p.P462S|NPNT_uc010ilt.1_Missense_Mutation_p.P432S|NPNT_uc011cff.1_Missense_Mutation_p.P432S|NPNT_uc010ilu.1_Intron	NM_001033047	NP_001028219	Q6UXI9	NPNT_HUMAN	nephronectin precursor	461	MAM.				cell differentiation	membrane	calcium ion binding			skin(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)														---	---	---	---
ALPK1	80216	broad.mit.edu	37	4	113346862	113346862	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:113346862C>T	uc003iap.3	+	7	856	c.577C>T	c.(577-579)CAG>TAG	p.Q193*	ALPK1_uc011cfw.1_RNA|ALPK1_uc003ian.3_Nonsense_Mutation_p.Q193*|ALPK1_uc011cfx.1_Nonsense_Mutation_p.Q115*|ALPK1_uc003iao.3_RNA|ALPK1_uc010imo.2_5'UTR	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	193							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)														---	---	---	---
LARP7	51574	broad.mit.edu	37	4	113567814	113567814	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:113567814G>A	uc003iay.2	+	4	652	c.374G>A	c.(373-375)CGC>CAC	p.R125H	LARP7_uc003iaz.2_Missense_Mutation_p.R132H|LARP7_uc003iba.2_Missense_Mutation_p.R46H|LARP7_uc003ibb.2_Missense_Mutation_p.R125H	NM_016648	NP_057732	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	125	RRM.				RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(3)	3		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)														---	---	---	---
NDST3	9348	broad.mit.edu	37	4	119163293	119163293	+	Silent	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:119163293A>C	uc003ibx.2	+	12	2791	c.2388A>C	c.(2386-2388)TCA>TCC	p.S796S		NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	796	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1																		---	---	---	---
TNIP3	79931	broad.mit.edu	37	4	122062982	122062982	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:122062982G>A	uc010ing.2	-	9	1070	c.874C>T	c.(874-876)CGG>TGG	p.R292W	TNIP3_uc010inh.2_Missense_Mutation_p.R292W|TNIP3_uc011cgj.1_Missense_Mutation_p.R350W	NM_024873	NP_079149	Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	292										ovary(1)	1																		---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123107276	123107276	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123107276T>C	uc003ieh.2	+	5	489	c.444T>C	c.(442-444)CTT>CTC	p.L148L	KIAA1109_uc003iei.1_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	148					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	123275094	123275094	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123275094C>T	uc003ieh.2	+	80	14272	c.14227C>T	c.(14227-14229)CGT>TGT	p.R4743C	KIAA1109_uc003iem.2_Missense_Mutation_p.R1099C	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	4743					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---
SPATA5	166378	broad.mit.edu	37	4	123868515	123868515	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123868515G>A	uc003iez.3	+	9	1659	c.1586G>A	c.(1585-1587)CGG>CAG	p.R529Q	SPATA5_uc003iey.2_Missense_Mutation_p.R528Q	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	529					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity				0																		---	---	---	---
MFSD8	256471	broad.mit.edu	37	4	128841999	128841999	+	Intron	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:128841999G>T	uc003ifp.2	-						MFSD8_uc011cgu.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																		---	---	---	---
PCDH18	54510	broad.mit.edu	37	4	138451730	138451730	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:138451730A>G	uc003ihe.3	-	1	1900	c.1513T>C	c.(1513-1515)TTG>CTG	p.L505L	PCDH18_uc003ihf.3_Silent_p.L498L|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Silent_p.L285L|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	505	Extracellular (Potential).|Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)																	---	---	---	---
POU4F2	5458	broad.mit.edu	37	4	147561442	147561442	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:147561442G>A	uc003ikv.2	+	2	960	c.712G>A	c.(712-714)GCG>ACG	p.A238T		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Brn3b POU domain transcription factor	238					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)																	---	---	---	---
FBXW7	55294	broad.mit.edu	37	4	153249385	153249385	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:153249385G>A	uc003ims.2	-	9	1542	c.1393C>T	c.(1393-1395)CGT>TGT	p.R465C	FBXW7_uc011cii.1_Missense_Mutation_p.R465C|FBXW7_uc003imt.2_Missense_Mutation_p.R465C|FBXW7_uc011cih.1_Missense_Mutation_p.R289C|FBXW7_uc003imq.2_Missense_Mutation_p.R385C|FBXW7_uc003imr.2_Missense_Mutation_p.R347C	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	465	WD 3.		R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in a acute lymphoblastic leukemia cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R465C(52)|p.R465H(36)|p.R465L(2)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)						Mis|N|D|F		colorectal|endometrial|T-ALL								---	---	---	---
TLR2	7097	broad.mit.edu	37	4	154625775	154625775	+	Silent	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:154625775C>A	uc003inq.2	+	3	1935	c.1716C>A	c.(1714-1716)GGC>GGA	p.G572G	TLR2_uc003inr.2_Silent_p.G572G|TLR2_uc003ins.2_Silent_p.G572G	NM_003264	NP_003255	O60603	TLR2_HUMAN	toll-like receptor 2 precursor	572	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)																---	---	---	---
PLRG1	5356	broad.mit.edu	37	4	155458569	155458569	+	Missense_Mutation	SNP	C	T	T	rs144644967	byFrequency	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:155458569C>T	uc003iny.2	-	14	1417	c.1354G>A	c.(1354-1356)GCA>ACA	p.A452T	PLRG1_uc003inz.2_Missense_Mutation_p.A443T	NM_002669	NP_002660	O43660	PLRG1_HUMAN	pleiotropic regulator 1 (PRL1 homolog,	452						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity				0	all_hematologic(180;0.215)	Renal(120;0.0854)																---	---	---	---
PLRG1	5356	broad.mit.edu	37	4	155459192	155459192	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:155459192T>A	uc003iny.2	-	13	1283	c.1220A>T	c.(1219-1221)CAA>CTA	p.Q407L	PLRG1_uc003inz.2_Missense_Mutation_p.Q398L	NM_002669	NP_002660	O43660	PLRG1_HUMAN	pleiotropic regulator 1 (PRL1 homolog,	407	WD 5.					catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity				0	all_hematologic(180;0.215)	Renal(120;0.0854)																---	---	---	---
GRIA2	2891	broad.mit.edu	37	4	158281228	158281228	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:158281228A>G	uc003ipm.3	+	13	2683	c.2224A>G	c.(2224-2226)ATG>GTG	p.M742V	GRIA2_uc011cit.1_Missense_Mutation_p.M695V|GRIA2_uc003ipl.3_Missense_Mutation_p.M742V|GRIA2_uc003ipk.3_Missense_Mutation_p.M695V|GRIA2_uc010iqh.1_RNA|GRIA2_uc011ciu.1_Missense_Mutation_p.M52V|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_Missense_Mutation_p.M52V|GRIA2_uc011ciy.1_Missense_Mutation_p.M52V|GRIA2_uc011ciz.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	742	Extracellular (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)													---	---	---	---
TLL1	7092	broad.mit.edu	37	4	166964495	166964495	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:166964495G>A	uc003irh.1	+	12	2095	c.1448G>A	c.(1447-1449)CGC>CAC	p.R483H	TLL1_uc011cjn.1_Missense_Mutation_p.R483H|TLL1_uc011cjo.1_Missense_Mutation_p.R307H	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	483	CUB 2.				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)														---	---	---	---
CLCN3	1182	broad.mit.edu	37	4	170634343	170634343	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:170634343C>A	uc003isi.2	+	12	2772	c.2263C>A	c.(2263-2265)CTT>ATT	p.L755I	CLCN3_uc003ish.2_Missense_Mutation_p.L755I|CLCN3_uc011cjz.1_Missense_Mutation_p.L738I|CLCN3_uc011cka.1_Missense_Mutation_p.L728I|CLCN3_uc003isj.1_Missense_Mutation_p.L728I	NM_001829	NP_001820	P51790	CLCN3_HUMAN	chloride channel 3 isoform b	755	CBS 2.|Cytoplasmic (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)														---	---	---	---
HELT	391723	broad.mit.edu	37	4	185941701	185941701	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:185941701G>A	uc011ckq.1	+	4	759	c.759G>A	c.(757-759)CCG>CCA	p.P253P	HELT_uc011cko.1_Silent_p.P168P|HELT_uc003ixa.3_Silent_p.P167P|HELT_uc011ckp.1_Silent_p.P111P	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN	HES/HEY-like transcription factor	253	Pro-rich.						DNA binding				0		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|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)														---	---	---	---
HELT	391723	broad.mit.edu	37	4	185941780	185941780	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:185941780C>T	uc011ckq.1	+	4	838	c.838C>T	c.(838-840)CCA>TCA	p.P280S	HELT_uc011cko.1_Missense_Mutation_p.P195S|HELT_uc003ixa.3_Missense_Mutation_p.P194S|HELT_uc011ckp.1_Missense_Mutation_p.P138S	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN	HES/HEY-like transcription factor	280	Pro-rich.						DNA binding				0		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|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)														---	---	---	---
PAPD7	11044	broad.mit.edu	37	5	6739961	6739961	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:6739961C>A	uc003jdx.1	+	4	383	c.254C>A	c.(253-255)GCT>GAT	p.A85D	PAPD7_uc011cmn.1_Missense_Mutation_p.A76D	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN	DNA polymerase sigma	85					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			ovary(1)	1																		---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11364852	11364852	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:11364852T>C	uc003jfa.1	-	8	1473	c.1328A>G	c.(1327-1329)GAC>GGC	p.D443G	CTNND2_uc010itt.2_Missense_Mutation_p.D352G|CTNND2_uc011cmy.1_Missense_Mutation_p.D106G|CTNND2_uc011cmz.1_Missense_Mutation_p.D10G|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.D10G	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	443				D -> V (in Ref. 1; AAC63103).	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	13817727	13817727	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13817727G>A	uc003jfd.2	-	42	6960	c.6918C>T	c.(6916-6918)GAC>GAT	p.D2306D		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2306	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	13923470	13923470	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13923470G>A	uc003jfd.2	-	4	399	c.357C>T	c.(355-357)AAC>AAT	p.N119N	DNAH5_uc003jfe.1_RNA	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	119	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				---	---	---	---
FBXL7	23194	broad.mit.edu	37	5	15936751	15936751	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:15936751T>C	uc003jfn.1	+	4	1413	c.932T>C	c.(931-933)CTG>CCG	p.L311P		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	311	LRR 6.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3																		---	---	---	---
MYO10	4651	broad.mit.edu	37	5	16672919	16672919	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:16672919T>C	uc003jft.3	-	37	5656	c.5188A>G	c.(5188-5190)ATC>GTC	p.I1730V	MYO10_uc011cnb.1_Missense_Mutation_p.I359V|MYO10_uc011cnc.1_Missense_Mutation_p.I609V|MYO10_uc011cnd.1_Missense_Mutation_p.I1087V|MYO10_uc011cne.1_Missense_Mutation_p.I1087V|MYO10_uc010itx.2_Missense_Mutation_p.I1352V	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1730	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3																		---	---	---	---
MYO10	4651	broad.mit.edu	37	5	16701393	16701393	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:16701393G>A	uc003jft.3	-	25	3579	c.3111C>T	c.(3109-3111)AAC>AAT	p.N1037N	MYO10_uc011cnc.1_5'Flank|MYO10_uc011cnd.1_Silent_p.N394N|MYO10_uc011cne.1_Silent_p.N394N|MYO10_uc010itx.2_Silent_p.N660N	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1037					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3																		---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24509929	24509929	+	Splice_Site	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:24509929C>T	uc003jgr.1	-	7	1335	c.1003_splice	c.e7-1	p.P335_splice	CDH10_uc011cnu.1_Splice_Site	NM_006727	NP_006718			cadherin 10, type 2 preproprotein						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)			---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	31983446	31983446	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:31983446T>C	uc003jhl.2	+	3	1050	c.662T>C	c.(661-663)GTC>GCC	p.V221A	PDZD2_uc003jhm.2_Missense_Mutation_p.V221A|PDZD2_uc011cnx.1_Missense_Mutation_p.V47A	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	221					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9																		---	---	---	---
RXFP3	51289	broad.mit.edu	37	5	33937788	33937788	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:33937788G>A	uc003jic.1	+	1	1300	c.943G>A	c.(943-945)GGA>AGA	p.G315R		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	315	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	37045628	37045628	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37045628T>A	uc003jkl.3	+	37	6926	c.6427T>A	c.(6427-6429)TCC>ACC	p.S2143T	NIPBL_uc003jkk.3_Missense_Mutation_p.S2143T	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	2143					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)															---	---	---	---
HEATR7B2	133558	broad.mit.edu	37	5	41004956	41004956	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41004956T>C	uc003jmj.3	-	36	4421	c.3931A>G	c.(3931-3933)AGT>GGT	p.S1311G	HEATR7B2_uc003jmi.3_Missense_Mutation_p.S866G	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	1311							binding			ovary(6)|central_nervous_system(2)	8																		---	---	---	---
HEATR7B2	133558	broad.mit.edu	37	5	41018858	41018858	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41018858C>A	uc003jmj.3	-	26	3098	c.2608G>T	c.(2608-2610)GGA>TGA	p.G870*	HEATR7B2_uc003jmi.3_Nonsense_Mutation_p.G425*	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	870							binding			ovary(6)|central_nervous_system(2)	8																		---	---	---	---
C6	729	broad.mit.edu	37	5	41160334	41160334	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41160334G>A	uc003jmk.2	-	11	1804	c.1594C>T	c.(1594-1596)CCC>TCC	p.P532S	C6_uc003jml.1_Missense_Mutation_p.P532S	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	532	EGF-like.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)																---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45303873	45303873	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:45303873A>C	uc003jok.2	-	6	1471	c.1446T>G	c.(1444-1446)AAT>AAG	p.N482K		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	482	cAMP.|Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1																		---	---	---	---
ISL1	3670	broad.mit.edu	37	5	50685514	50685514	+	Silent	SNP	G	A	A	rs121913540		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:50685514G>A	uc003jor.2	+	4	1061	c.513G>A	c.(511-513)CGG>CGA	p.R171R		NM_002202	NP_002193	P61371	ISL1_HUMAN	islet-1	171					generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3		Lung NSC(810;0.000845)|Breast(144;0.0411)																---	---	---	---
CCNO	10309	broad.mit.edu	37	5	54527374	54527374	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:54527374C>T	uc003jpw.2	-	3	1039	c.882G>A	c.(880-882)ATG>ATA	p.M294I	CCNO_uc003jpv.2_RNA	NM_021147	NP_066970	P22674	CCNO_HUMAN	cyclin domain containing	294					cell cycle|cell division|depyrimidination|regulation of cyclin-dependent protein kinase activity	nucleoplasm	protein kinase binding|uracil DNA N-glycosylase activity				0		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)															---	---	---	---
MAP3K1	4214	broad.mit.edu	37	5	56168713	56168713	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:56168713G>A	uc003jqw.3	+	9	2068	c.1567G>A	c.(1567-1569)GTA>ATA	p.V523I		NM_005921	NP_005912	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase	523					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)														---	---	---	---
HTR1A	3350	broad.mit.edu	37	5	63256881	63256881	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:63256881C>T	uc011cqt.1	-	1	666	c.666G>A	c.(664-666)GCG>GCA	p.A222A		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	222	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)													---	---	---	---
TMEM171	134285	broad.mit.edu	37	5	72419385	72419385	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:72419385C>T	uc003kcm.2	+	2	389	c.185C>T	c.(184-186)GCG>GTG	p.A62V	TMEM171_uc003kcn.3_Missense_Mutation_p.A62V	NM_173490	NP_775761	Q8WVE6	TM171_HUMAN	transmembrane protein 171 isoform 1	62	Helical; (Potential).					integral to membrane					0		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)														---	---	---	---
XRCC4	7518	broad.mit.edu	37	5	82554470	82554470	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:82554470G>T	uc003kib.2	+	7	995	c.867G>T	c.(865-867)CAG>CAT	p.Q289H	XRCC4_uc003kia.1_Missense_Mutation_p.Q289H|XRCC4_uc003kid.2_Missense_Mutation_p.Q289H|XRCC4_uc003kic.2_Missense_Mutation_p.Q289H|XRCC4_uc003kie.2_Missense_Mutation_p.Q289H|XRCC4_uc003kif.1_Missense_Mutation_p.Q289H|XRCC4_uc003kig.2_RNA	NM_022406	NP_071801	Q13426	XRCC4_HUMAN	X-ray repair cross complementing protein 4	289					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					---	---	---	---
ERAP1	51752	broad.mit.edu	37	5	96116805	96116805	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:96116805C>T	uc003kmm.2	-	17	2892	c.2545G>A	c.(2545-2547)GCC>ACC	p.A849T	ERAP1_uc003kml.2_Missense_Mutation_p.A849T|ERAP1_uc010jbm.1_Missense_Mutation_p.A661T|ERAP1_uc003kmn.2_Missense_Mutation_p.A849T	NM_001040458	NP_001035548	Q9NZ08	ERAP1_HUMAN	type 1 tumor necrosis factor receptor shedding	849	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)														---	---	---	---
RGMB	285704	broad.mit.edu	37	5	98115291	98115291	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:98115291C>T	uc003knc.2	+	4	669	c.267C>T	c.(265-267)TGC>TGT	p.C89C	RGMB_uc003knb.2_Silent_p.C89C	NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN	RGM domain family, member B	48					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)														---	---	---	---
SLCO4C1	353189	broad.mit.edu	37	5	101606324	101606324	+	Intron	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:101606324T>G	uc003knm.2	-							NM_180991	NP_851322			solute carrier organic anion transporter family,						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)														---	---	---	---
SLC22A4	6583	broad.mit.edu	37	5	131671563	131671563	+	Silent	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:131671563C>A	uc003kwq.2	+	8	1479	c.1314C>A	c.(1312-1314)ACC>ACA	p.T438T	uc003kwr.3_Intron	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	solute carrier family 22 member 4	438	Helical; Name=10; (Potential).				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity				0		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)													---	---	---	---
IRF1	3659	broad.mit.edu	37	5	131819656	131819656	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:131819656G>T	uc003kxa.2	-	10	1199	c.965C>A	c.(964-966)CCC>CAC	p.P322H	C5orf56_uc010jds.1_Intron|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.P322H	NM_002198	NP_002189	P10914	IRF1_HUMAN	interferon regulatory factor 1	322					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm					0		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)														---	---	---	---
NEUROG1	4762	broad.mit.edu	37	5	134871159	134871159	+	Silent	SNP	G	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:134871159G>C	uc003lax.2	-	1	481	c.222C>G	c.(220-222)CGC>CGG	p.R74R		NM_006161	NP_006152	Q92886	NGN1_HUMAN	neurogenin 1	74					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)															---	---	---	---
BRD8	10902	broad.mit.edu	37	5	137495751	137495751	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137495751G>A	uc003lcf.1	-						BRD8_uc003lcc.1_Intron|BRD8_uc011cyl.1_Intron|BRD8_uc003lcg.2_Intron|BRD8_uc003lci.2_Intron|BRD8_uc003lch.2_Intron|BRD8_uc011cym.1_Intron|BRD8_uc010jer.1_Intron|BRD8_uc011cyn.1_Intron	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)															---	---	---	---
REEP2	51308	broad.mit.edu	37	5	137777118	137777118	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137777118G>A	uc003lcz.2	+	3	272	c.150G>A	c.(148-150)ACG>ACA	p.T50T	REEP2_uc003lda.2_Silent_p.T50T|REEP2_uc011cyt.1_Silent_p.T11T	NM_016606	NP_057690	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	50	Helical; (Potential).					integral to membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)															---	---	---	---
PURA	5813	broad.mit.edu	37	5	139494404	139494404	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:139494404A>C	uc003lfa.2	+	1	697	c.638A>C	c.(637-639)GAG>GCG	p.E213A		NM_005859	NP_005850	Q00577	PURA_HUMAN	purine-rich element binding protein A	213					DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
SLC35A4	113829	broad.mit.edu	37	5	139946971	139946971	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:139946971T>C	uc003lgg.1	+	3	945	c.217T>C	c.(217-219)TGG>CGG	p.W73R	APBB3_uc003lgd.1_5'Flank|APBB3_uc003lge.1_5'Flank|APBB3_uc003lgf.1_5'Flank|APBB3_uc010jfp.1_5'Flank|APBB3_uc011czi.1_5'Flank|APBB3_uc010jfr.1_5'Flank|SLC35A4_uc003lgh.1_Missense_Mutation_p.W73R	NM_080670	NP_542401	Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	73	Helical; (Potential).|Leu-rich.					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA4	56144	broad.mit.edu	37	5	140188299	140188299	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140188299G>A	uc003lhi.2	+	1	1628	c.1527G>A	c.(1525-1527)TCG>TCA	p.S509S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.S509S|PCDHA4_uc011daa.1_Silent_p.S509S	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	509	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA6	56142	broad.mit.edu	37	5	140209639	140209639	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140209639G>A	uc003lho.2	+	1	1990	c.1963G>A	c.(1963-1965)GGT>AGT	p.G655S	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_uc011dab.1_Missense_Mutation_p.G655S	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	655	Cadherin 6.|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)															---	---	---	---
PCDHA13	56136	broad.mit.edu	37	5	140263299	140263299	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140263299G>A	uc003lif.2	+	1	1446	c.1446G>A	c.(1444-1446)GCG>GCA	p.A482A	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_Silent_p.A482A|PCDHA13_uc003lid.2_Silent_p.A482A	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	482	Cadherin 5.|Extracellular (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)															---	---	---	---
PCDHA13	56136	broad.mit.edu	37	5	140263504	140263504	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140263504C>T	uc003lif.2	+	1	1651	c.1651C>T	c.(1651-1653)CTG>TTG	p.L551L	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_Silent_p.L551L|PCDHA13_uc003lid.2_Silent_p.L551L	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	551	Cadherin 5.|Extracellular (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)															---	---	---	---
PCDHA13	56136	broad.mit.edu	37	5	140263536	140263536	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140263536C>T	uc003lif.2	+	1	1683	c.1683C>T	c.(1681-1683)AAC>AAT	p.N561N	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_Silent_p.N561N|PCDHA13_uc003lid.2_Silent_p.N561N	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	561	Cadherin 5.|Extracellular (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)															---	---	---	---
PCDHAC2	56134	broad.mit.edu	37	5	140346519	140346519	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140346519G>A	uc003lii.2	+	1	408	c.168G>A	c.(166-168)GCG>GCA	p.A56A	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_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Silent_p.A56A	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	56	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHB2	56133	broad.mit.edu	37	5	140475355	140475355	+	Silent	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140475355G>T	uc003lil.2	+	1	1119	c.981G>T	c.(979-981)GGG>GGT	p.G327G	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	327	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140590109	140590109	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140590109G>A	uc003liz.2	+	1	1819	c.1630G>A	c.(1630-1632)GAG>AAG	p.E544K	PCDHB12_uc011dak.1_Missense_Mutation_p.E207K	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	544	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)															---	---	---	---
PCDHGA6	56109	broad.mit.edu	37	5	140754749	140754749	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140754749G>A	uc003ljy.1	+	1	1099	c.1099G>A	c.(1099-1101)GCC>ACC	p.A367T	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_uc011dau.1_Missense_Mutation_p.A367T	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	367	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)															---	---	---	---
DIAPH1	1729	broad.mit.edu	37	5	140903716	140903716	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140903716G>A	uc003llb.3	-	28	3796	c.3655C>T	c.(3655-3657)CGT>TGT	p.R1219C	DIAPH1_uc011dbd.1_Missense_Mutation_p.R113C|DIAPH1_uc003llc.3_Missense_Mutation_p.R1210C	NM_005219	NP_005210	O60610	DIAP1_HUMAN	diaphanous 1 isoform 1	1219	DAD.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
DIAPH1	1729	broad.mit.edu	37	5	140956318	140956318	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140956318C>T	uc003llb.3	-						DIAPH1_uc003llc.3_Intron|DIAPH1_uc010jgc.1_5'Flank	NM_005219	NP_005210			diaphanous 1 isoform 1						regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
GNPDA1	10007	broad.mit.edu	37	5	141385765	141385765	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:141385765C>T	uc003lmf.3	-	3	1112	c.353G>A	c.(352-354)TGT>TAT	p.C118Y	GNPDA1_uc003lmg.3_Missense_Mutation_p.C118Y|GNPDA1_uc010jgh.2_Missense_Mutation_p.C118Y|GNPDA1_uc003lmh.3_Missense_Mutation_p.C84Y	NM_005471	NP_005462	P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	118					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity				0		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
RPS14	6208	broad.mit.edu	37	5	149826448	149826448	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149826448C>A	uc003lsh.2	-	3	501	c.228G>T	c.(226-228)TTG>TTT	p.L76F	uc003lsg.2_5'Flank|RPS14_uc003lsi.2_Missense_Mutation_p.L76F|RPS14_uc003lsj.2_Missense_Mutation_p.L76F	NM_001025071	NP_001020242	P62263	RS14_HUMAN	ribosomal protein S14	76					endocrine pancreas development|erythrocyte differentiation|maturation of SSU-rRNA|negative regulation of transcription from RNA polymerase II promoter|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA 5'-UTR binding|protein binding|structural constituent of ribosome|translation regulator activity			central_nervous_system(1)	1		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
NDST1	3340	broad.mit.edu	37	5	149915269	149915269	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149915269G>A	uc003lsk.3	+	6	1761	c.1259G>A	c.(1258-1260)GGC>GAC	p.G420D	NDST1_uc011dcj.1_Missense_Mutation_p.G420D|NDST1_uc003lsl.2_Missense_Mutation_p.G420D	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	420	Heparan sulfate N-deacetylase 1.|Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(1)|skin(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
NDST1	3340	broad.mit.edu	37	5	149925026	149925026	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149925026A>G	uc003lsk.3	+	11	2625	c.2123A>G	c.(2122-2124)GAC>GGC	p.D708G	NDST1_uc011dcj.1_Missense_Mutation_p.D708G	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	708	Heparan sulfate N-sulfotransferase 1.|Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(1)|skin(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
TNIP1	10318	broad.mit.edu	37	5	150411891	150411891	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150411891G>T	uc003ltf.2	-	17	2422	c.1833C>A	c.(1831-1833)AGC>AGA	p.S611R	TNIP1_uc011dcn.1_Missense_Mutation_p.S129R|TNIP1_uc010jhl.2_RNA|TNIP1_uc010jhm.2_Missense_Mutation_p.S547R|TNIP1_uc010jhn.2_Intron|TNIP1_uc011dco.1_Missense_Mutation_p.A617D|TNIP1_uc003lth.2_RNA|TNIP1_uc003lti.2_Missense_Mutation_p.S611R|TNIP1_uc003ltg.2_Missense_Mutation_p.S558R|TNIP1_uc003ltj.2_Missense_Mutation_p.S611R|TNIP1_uc010jho.1_RNA|TNIP1_uc010jhq.1_Intron|TNIP1_uc010jhp.1_Missense_Mutation_p.S494R|TNIP1_uc010jhr.1_Missense_Mutation_p.S611R|TNIP1_uc003ltk.2_Missense_Mutation_p.S611R	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	611	Pro-rich.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
G3BP1	10146	broad.mit.edu	37	5	151170610	151170610	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:151170610T>C	uc003lun.2	+	4	509	c.338T>C	c.(337-339)GTC>GCC	p.V113A	G3BP1_uc010jhy.1_Missense_Mutation_p.V113A|G3BP1_uc003lum.2_Missense_Mutation_p.V113A|G3BP1_uc011dcu.1_5'UTR|G3BP1_uc010jhz.2_5'UTR	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Ras-GTPase-activating protein SH3-domain-binding	113	NTF2.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			skin(3)|ovary(1)	4		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)															---	---	---	---
HAVCR2	84868	broad.mit.edu	37	5	156514218	156514218	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156514218A>G	uc003lwk.1	-	7	945	c.801T>C	c.(799-801)ATT>ATC	p.I267I		NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	T cell immunoglobulin mucin 3 precursor	267	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)															---	---	---	---
GABRA6	2559	broad.mit.edu	37	5	161116141	161116141	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:161116141A>G	uc003lyu.2	+	4	750	c.412A>G	c.(412-414)ATA>GTA	p.I138V	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	138	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	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)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)										TCGA Ovarian(5;0.080)			---	---	---	---
ODZ2	57451	broad.mit.edu	37	5	167589717	167589717	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:167589717G>A	uc010jjd.2	+	13	2497	c.2497G>A	c.(2497-2499)GTT>ATT	p.V833I	ODZ2_uc003lzr.3_Missense_Mutation_p.V610I|ODZ2_uc003lzt.3_Missense_Mutation_p.V206I|ODZ2_uc010jje.2_Missense_Mutation_p.V104I|uc003lzs.1_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)														---	---	---	---
CCDC99	54908	broad.mit.edu	37	5	169020375	169020375	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169020375G>A	uc003mae.3	+	4	633	c.354G>A	c.(352-354)GTG>GTA	p.V118V	CCDC99_uc010jjj.2_Silent_p.V47V|CCDC99_uc011deq.1_Intron|CCDC99_uc010jjk.2_5'UTR	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	coiled-coil domain containing 99	118	Potential.				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)															---	---	---	---
CCDC99	54908	broad.mit.edu	37	5	169021259	169021259	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169021259G>A	uc003mae.3	+	5	921	c.642G>A	c.(640-642)GAG>GAA	p.E214E	CCDC99_uc010jjj.2_Silent_p.E143E|CCDC99_uc011deq.1_Silent_p.E31E|CCDC99_uc010jjk.2_Intron	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	coiled-coil domain containing 99	214	Potential.				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)															---	---	---	---
SH3PXD2B	285590	broad.mit.edu	37	5	171777412	171777412	+	Missense_Mutation	SNP	C	A	A	rs111492578		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:171777412C>A	uc003mbr.2	-	10	1138	c.967G>T	c.(967-969)GGG>TGG	p.G323W		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	323					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)															---	---	---	---
DRD1	1812	broad.mit.edu	37	5	174870015	174870015	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:174870015G>T	uc003mcz.2	-	2	1033	c.88C>A	c.(88-90)CTG>ATG	p.L30M		NM_000794	NP_000785	P21728	DRD1_HUMAN	dopamine receptor D1	30	Helical; Name=1; (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			ovary(2)|skin(1)	3	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)													---	---	---	---
RGS14	10636	broad.mit.edu	37	5	176797920	176797920	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176797920C>T	uc003mgf.2	+	11	1324	c.1142C>T	c.(1141-1143)GCG>GTG	p.A381V	RGS14_uc003mgh.2_Missense_Mutation_p.A229V|RGS14_uc003mgi.2_Missense_Mutation_p.A152V|RGS14_uc003mgj.2_5'Flank	NM_006480	NP_006471	O43566	RGS14_HUMAN	regulator of G-protein signalling 14	381	RBD 2.|Necessary for interaction with RABGEF1 (By similarity).				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			lung(1)	1	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)															---	---	---	---
CANX	821	broad.mit.edu	37	5	179150668	179150668	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179150668T>C	uc003mkk.2	+	12	1583	c.1406T>C	c.(1405-1407)GTT>GCT	p.V469A	CANX_uc011dgp.1_Missense_Mutation_p.V504A|CANX_uc003mkl.2_Missense_Mutation_p.V469A|CANX_uc011dgq.1_Missense_Mutation_p.V361A	NM_001746	NP_001737	P27824	CALX_HUMAN	calnexin precursor	469	Lumenal (Potential).				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding				0	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
FAM50B	26240	broad.mit.edu	37	6	3850592	3850592	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:3850592G>A	uc003mvu.2	+	2	659	c.547G>A	c.(547-549)GAG>AAG	p.E183K		NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	183						nucleus				pancreas(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)																---	---	---	---
RREB1	6239	broad.mit.edu	37	6	7231972	7231972	+	Missense_Mutation	SNP	G	A	A	rs146641651		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7231972G>A	uc003mxc.2	+	10	4030	c.3640G>A	c.(3640-3642)GAC>AAC	p.D1214N	RREB1_uc003mxb.2_Missense_Mutation_p.D1214N|RREB1_uc010jnx.2_Missense_Mutation_p.D1214N	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	1214					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)																---	---	---	---
DSP	1832	broad.mit.edu	37	6	7576615	7576615	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7576615C>T	uc003mxp.1	+	19	2998	c.2719C>T	c.(2719-2721)CGC>TGC	p.R907C	DSP_uc003mxq.1_Missense_Mutation_p.R907C	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	907	Globular 1.|Spectrin 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)														---	---	---	---
HIVEP1	3096	broad.mit.edu	37	6	12125503	12125503	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:12125503T>C	uc003nac.2	+	4	5654	c.5475T>C	c.(5473-5475)AAT>AAC	p.N1825N	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	1825					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)																---	---	---	---
GFOD1	54438	broad.mit.edu	37	6	13365634	13365634	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:13365634C>T	uc003nat.1	-	2	1179	c.514G>A	c.(514-516)GGC>AGC	p.G172S	GFOD1_uc003nas.1_Missense_Mutation_p.G69S	NM_018988	NP_061861	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain	172						extracellular region	binding|oxidoreductase activity			ovary(2)	2	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)															---	---	---	---
RANBP9	10048	broad.mit.edu	37	6	13711709	13711709	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:13711709G>T	uc003nbb.2	-	1	88	c.29C>A	c.(28-30)CCG>CAG	p.P10Q		NM_005493	NP_005484	Q96S59	RANB9_HUMAN	RAN binding protein 9	10	Poly-Pro.				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)															---	---	---	---
JARID2	3720	broad.mit.edu	37	6	15520332	15520332	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:15520332C>T	uc003nbj.2	+	18	3835	c.3591C>T	c.(3589-3591)TGC>TGT	p.C1197C	JARID2_uc011div.1_Silent_p.C1025C	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	1197					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)																---	---	---	---
C6orf62	81688	broad.mit.edu	37	6	24714607	24714607	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24714607T>C	uc003nel.2	-	3	875	c.368A>G	c.(367-369)AAA>AGA	p.K123R		NM_030939	NP_112201	Q9GZU0	CF062_HUMAN	hypothetical protein LOC81688	123						intracellular					0																		---	---	---	---
BTN3A3	10384	broad.mit.edu	37	6	26452193	26452193	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26452193A>G	uc003nhz.2	+	11	1489	c.1309A>G	c.(1309-1311)ACT>GCT	p.T437A	BTN3A3_uc003nia.2_Missense_Mutation_p.T395A|BTN3A3_uc011dkn.1_Missense_Mutation_p.T388A	NM_006994	NP_008925	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3 isoform a	437	B30.2/SPRY.|Cytoplasmic (Potential).					integral to membrane					0																		---	---	---	---
BTN1A1	696	broad.mit.edu	37	6	26501975	26501975	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26501975C>T	uc003nif.3	+	2	257	c.237C>T	c.(235-237)GAC>GAT	p.D79D		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1 precursor	79	Extracellular (Potential).|Ig-like V-type 1.					extracellular region|integral to plasma membrane	receptor activity			ovary(1)|skin(1)	2																		---	---	---	---
HIST1H2BK	85236	broad.mit.edu	37	6	27114195	27114195	+	3'UTR	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:27114195G>A	uc003nix.1	-	1					HIST1H2AH_uc003niz.2_5'Flank|hsa-mir-3143|MI0014167_5'Flank	NM_080593	NP_542160			histone cluster 1, H2bk						defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding				0																		---	---	---	---
NKAPL	222698	broad.mit.edu	37	6	28227433	28227433	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28227433G>A	uc003nkt.2	+	1	336	c.284G>A	c.(283-285)CGC>CAC	p.R95H	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	95										upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
OR5V1	81696	broad.mit.edu	37	6	29323689	29323689	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29323689A>G	uc011dlo.1	-	1	366	c.284T>C	c.(283-285)GTG>GCG	p.V95A		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V,	95	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|kidney(1)	4																		---	---	---	---
HLA-A	3105	broad.mit.edu	37	6	29910672	29910672	+	Missense_Mutation	SNP	C	A	A	rs41563719		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29910672C>A	uc003nol.2	+	2	212	c.212C>A	c.(211-213)CCG>CAG	p.P71Q	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Missense_Mutation_p.P71Q|HLA-A_uc003noo.2_Missense_Mutation_p.P71Q|HLA-A_uc010jrr.2_Missense_Mutation_p.P71Q|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Missense_Mutation_p.P43Q|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	major histocompatibility complex, class I, A	71	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2														Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Multiple Myeloma(9;0.094)			---	---	---	---
PPP1R11	6992	broad.mit.edu	37	6	30036905	30036905	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30036905G>A	uc003npb.2	+	3	459	c.203G>A	c.(202-204)CGG>CAG	p.R68Q	PPP1R11_uc010jrw.2_RNA|PPP1R11_uc003npc.2_RNA	NM_021959	NP_068778	O60927	PP1RB_HUMAN	protein phosphatase 1, regulatory (inhibitor)	68						soluble fraction	protein binding|protein phosphatase inhibitor activity			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
HLA-B	3106	broad.mit.edu	37	6	31323371	31323371	+	Splice_Site	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31323371T>G	uc003nth.2	-	4	674	c.620_splice	c.e4-1	p.D207_splice	HLA-C_uc003ntb.2_Splice_Site|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_Splice_Site|HLA-B_uc011dnk.1_Splice_Site|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Splice_Site_p.D86_splice|HLA-B_uc003nti.1_Splice_Site|HLA-B_uc010jsn.1_Intron|HLA-B_uc010jso.2_3'UTR	NM_005514	NP_005505			major histocompatibility complex, class I, B						antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity				0														Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of				---	---	---	---
BAT2	7916	broad.mit.edu	37	6	31597533	31597533	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31597533G>A	uc003nvb.3	+	14	2414	c.2165G>A	c.(2164-2166)CGA>CAA	p.R722Q	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.R722Q	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	722	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0																		---	---	---	---
MSH5	4439	broad.mit.edu	37	6	31713067	31713067	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31713067G>A	uc003nwv.1	+	9	816	c.737G>A	c.(736-738)AGT>AAT	p.S246N	MSH5_uc003nwt.1_Missense_Mutation_p.S263N|MSH5_uc003nwu.1_Missense_Mutation_p.S246N|MSH5_uc003nww.1_Missense_Mutation_p.S246N|MSH5_uc003nwx.1_Missense_Mutation_p.S263N|MSH5_uc011dof.1_Intron	NM_172166	NP_751898	O43196	MSH5_HUMAN	mutS homolog 5 isoform c	246					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					---	---	---	---
VARS	7407	broad.mit.edu	37	6	31747238	31747238	+	Missense_Mutation	SNP	G	A	A	rs138566905		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31747238G>A	uc003nxe.2	-	28	3787	c.3364C>T	c.(3364-3366)CGG>TGG	p.R1122W	C6orf27_uc011dog.1_5'Flank|C6orf27_uc003nxd.2_5'Flank|C6orf27_uc011doh.1_5'Flank|VARS_uc003nxf.1_Missense_Mutation_p.R59W	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1122					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)													---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32035685	32035685	+	Silent	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32035685C>A	uc003nzl.2	-	18	6499	c.6297G>T	c.(6295-6297)GGG>GGT	p.G2099G		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2171	Fibronectin type-III 14.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0																		---	---	---	---
COL11A2	1302	broad.mit.edu	37	6	33137233	33137233	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33137233G>A	uc003ocx.1	-	51	3953	c.3725C>T	c.(3724-3726)TCG>TTG	p.S1242L	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.S1156L|COL11A2_uc003ocz.1_Missense_Mutation_p.S1135L	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1242	Triple-helical region.				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																		---	---	---	---
BAK1	578	broad.mit.edu	37	6	33543205	33543205	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33543205C>T	uc003oes.2	-	4	520	c.220G>A	c.(220-222)GTG>ATG	p.V74M	BAK1_uc003oer.2_Missense_Mutation_p.V4M|BAK1_uc003oet.2_RNA|BAK1_uc010jvb.2_Missense_Mutation_p.V74M|BAK1_uc003oeu.2_Missense_Mutation_p.V15M|BAK1_uc011drj.1_Missense_Mutation_p.V74M	NM_001188	NP_001179	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	74	BH3.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity			ovary(1)	1																		---	---	---	---
PACSIN1	29993	broad.mit.edu	37	6	34497328	34497328	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:34497328A>G	uc003ojo.2	+	5	817	c.611A>G	c.(610-612)AAG>AGG	p.K204R	PACSIN1_uc003ojp.2_Missense_Mutation_p.K204R	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in	204	Potential.				endocytosis		protein kinase activity				0																		---	---	---	---
PPARD	5467	broad.mit.edu	37	6	35389648	35389648	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:35389648C>T	uc003okm.2	+	5	646	c.337C>T	c.(337-339)CGC>TGC	p.R113C	PPARD_uc003okl.2_Missense_Mutation_p.R113C|PPARD_uc003okn.2_Missense_Mutation_p.R113C|PPARD_uc011dtb.1_Missense_Mutation_p.R74C|PPARD_uc011dtc.1_Intron|PPARD_uc010jvv.1_RNA	NM_006238	NP_006229	Q03181	PPARD_HUMAN	peroxisome proliferative activated receptor,	113	Nuclear receptor.|NR C4-type.				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)													---	---	---	---
TULP1	7287	broad.mit.edu	37	6	35473838	35473838	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:35473838T>C	uc003okv.3	-	10	953	c.941A>G	c.(940-942)AAG>AGG	p.K314R	TULP1_uc003okw.3_Missense_Mutation_p.K261R	NM_003322	NP_003313	O00294	TULP1_HUMAN	tubby like protein 1	314					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
PPIL1	51645	broad.mit.edu	37	6	36842542	36842542	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:36842542C>T	uc003omu.2	-	1	259	c.7G>A	c.(7-9)GCA>ACA	p.A3T	C6orf89_uc003omv.2_Intron	NM_016059	NP_057143	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase-like 1	3					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	p.A3V(1)		ovary(1)	1																		---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38747811	38747811	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38747811C>T	uc003ooe.1	+	13	2058	c.1458C>T	c.(1456-1458)TAC>TAT	p.Y486Y		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																		---	---	---	---
LRFN2	57497	broad.mit.edu	37	6	40399747	40399747	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:40399747G>A	uc003oph.1	-	2	1571	c.1106C>T	c.(1105-1107)ACG>ATG	p.T369M		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	369	Extracellular (Potential).|Ig-like.					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)																	---	---	---	---
USP49	25862	broad.mit.edu	37	6	41773935	41773935	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:41773935A>C	uc003ori.2	-	4	1009	c.787T>G	c.(787-789)TAC>GAC	p.Y263D		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	ubiquitin thioesterase 49	263					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)															---	---	---	---
XPO5	57510	broad.mit.edu	37	6	43515414	43515414	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43515414C>T	uc003ovp.2	-	19	2302	c.2091G>A	c.(2089-2091)GCG>GCA	p.A697A		NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	exportin 5	697				A -> V (in Ref. 3; BAA86605).	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)															---	---	---	---
TDRD6	221400	broad.mit.edu	37	6	46659451	46659451	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46659451A>C	uc003oyj.2	+	1	3586	c.3586A>C	c.(3586-3588)AGT>CGT	p.S1196R	TDRD6_uc010jze.2_Missense_Mutation_p.S1190R	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1196					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	46679257	46679257	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46679257C>T	uc010jzf.2	-	7	908	c.639G>A	c.(637-639)GAG>GAA	p.E213E	PLA2G7_uc010jzg.1_Silent_p.E213E|PLA2G7_uc011dwd.1_Silent_p.E168E|PLA2G7_uc011dwe.1_Silent_p.E86E	NM_005084	NP_005075	Q13093	PAFA_HUMAN	phospholipase A2, group VII	213					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding				0			Lung(136;0.192)															---	---	---	---
GPR111	222611	broad.mit.edu	37	6	47649996	47649996	+	Silent	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:47649996C>A	uc010jzj.1	+	6	1702	c.1701C>A	c.(1699-1701)GGC>GGA	p.G567G	GPR111_uc010jzk.1_Silent_p.G499G|GPR111_uc003oyy.2_RNA	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	G-protein coupled receptor 111	567	Helical; Name=4; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1																		---	---	---	---
MUT	4594	broad.mit.edu	37	6	49416614	49416614	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:49416614A>G	uc003ozg.3	-	7	1614	c.1359T>C	c.(1357-1359)GGT>GGC	p.G453G		NM_000255	NP_000246	P22033	MUTA_HUMAN	methylmalonyl Coenzyme A mutase precursor	453					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)													---	---	---	---
MCM3	4172	broad.mit.edu	37	6	52144285	52144285	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:52144285C>T	uc003pan.1	-	5	754	c.644G>A	c.(643-645)CGC>CAC	p.R215H	MCM3_uc011dwu.1_Missense_Mutation_p.R169H	NM_002388	NP_002379	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	215					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	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)|lung(1)|skin(1)	3	Lung NSC(77;0.0931)																	---	---	---	---
OOEP	441161	broad.mit.edu	37	6	74078937	74078937	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:74078937C>T	uc003pgu.3	-	2	362	c.362G>A	c.(361-363)CGT>CAT	p.R121H	OOEP_uc003pgv.3_Missense_Mutation_p.R66H	NM_001080507	NP_001073976	A6NGQ2	OOEP_HUMAN	oocyte expressed protein homolog	121						cytoplasm					0																		---	---	---	---
IBTK	25998	broad.mit.edu	37	6	82950101	82950101	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:82950101C>T	uc003pjl.1	-	2	630	c.103G>A	c.(103-105)GCC>ACC	p.A35T	IBTK_uc011dyv.1_Missense_Mutation_p.A35T|IBTK_uc011dyw.1_Missense_Mutation_p.A35T|IBTK_uc010kbi.1_5'UTR|IBTK_uc003pjm.2_Missense_Mutation_p.A35T	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	35					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)														---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	101053556	101053556	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:101053556G>A	uc003pqk.2	-	33	5394	c.5065C>T	c.(5065-5067)CGT>TGT	p.R1689C		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1689	Helicase C-terminal 2.				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	102266333	102266333	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:102266333G>A	uc003pqp.3	+	9	1541	c.1292G>A	c.(1291-1293)CGT>CAT	p.R431H	GRIK2_uc003pqn.2_Missense_Mutation_p.R431H|GRIK2_uc003pqo.3_Missense_Mutation_p.R431H|GRIK2_uc010kcw.2_Missense_Mutation_p.R431H	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	431	Extracellular (Potential).				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)													---	---	---	---
BEND3	57673	broad.mit.edu	37	6	107390838	107390838	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:107390838G>A	uc003prs.2	-	5	2207	c.1557C>T	c.(1555-1557)GGC>GGT	p.G519G		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	519										ovary(3)	3																		---	---	---	---
GPR6	2830	broad.mit.edu	37	6	110300547	110300547	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:110300547C>T	uc011eaw.1	+	2	412	c.232C>T	c.(232-234)CTC>TTC	p.L78F	GPR6_uc011eav.1_Missense_Mutation_p.L93F|GPR6_uc003ptu.2_Missense_Mutation_p.L78F	NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	78	Helical; Name=1; (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)														---	---	---	---
KPNA5	3841	broad.mit.edu	37	6	117010486	117010486	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117010486C>A	uc003pxh.2	+	2	139	c.8C>A	c.(7-9)GCC>GAC	p.A3D		NM_002269	NP_002260	O15131	IMA5_HUMAN	karyopherin alpha 5	Error:Variant_position_missing_in_O15131_after_alignment					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	117130556	117130556	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117130556A>C	uc003pxj.1	-	2	441	c.419T>G	c.(418-420)GTT>GGT	p.V140G	GPRC6A_uc003pxk.1_Missense_Mutation_p.V140G|GPRC6A_uc003pxl.1_Missense_Mutation_p.V140G	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	140	Extracellular (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	117248667	117248667	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117248667G>A	uc003pxm.2	+	17	2426	c.2363G>A	c.(2362-2364)TGC>TAC	p.C788Y		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	788					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																		---	---	---	---
CLVS2	134829	broad.mit.edu	37	6	123319047	123319047	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:123319047C>A	uc003pzi.1	+	2	994	c.125C>A	c.(124-126)CCG>CAG	p.P42Q		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	retinaldehyde binding protein 1-like 2	42					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																		---	---	---	---
C6orf174	387104	broad.mit.edu	37	6	127796581	127796581	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:127796581G>T	uc003qbd.2	-	6	3455	c.2590C>A	c.(2590-2592)CGC>AGC	p.R864S	C6orf174_uc003qbc.2_5'UTR	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	864						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)														---	---	---	---
TMEM200A	114801	broad.mit.edu	37	6	130761596	130761596	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:130761596G>T	uc003qca.2	+	3	900	c.29G>T	c.(28-30)GGC>GTC	p.G10V	TMEM200A_uc010kfh.2_Missense_Mutation_p.G10V|TMEM200A_uc010kfi.2_Missense_Mutation_p.G10V|TMEM200A_uc003qcb.2_Missense_Mutation_p.G10V	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	10	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)														---	---	---	---
TMEM200A	114801	broad.mit.edu	37	6	130762913	130762913	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:130762913C>G	uc003qca.2	+	3	2217	c.1346C>G	c.(1345-1347)GCC>GGC	p.A449G	TMEM200A_uc010kfh.2_Missense_Mutation_p.A449G|TMEM200A_uc010kfi.2_Missense_Mutation_p.A449G|TMEM200A_uc003qcb.2_Missense_Mutation_p.A449G	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	449	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)														---	---	---	---
MAP7	9053	broad.mit.edu	37	6	136698972	136698972	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:136698972G>A	uc003qgz.2	-	7	918	c.672C>T	c.(670-672)AGC>AGT	p.S224S	MAP7_uc011edf.1_Silent_p.S209S|MAP7_uc011edg.1_Silent_p.S246S|MAP7_uc010kgu.2_Silent_p.S246S|MAP7_uc011edh.1_Silent_p.S209S|MAP7_uc010kgv.2_Silent_p.S246S|MAP7_uc010kgs.2_Silent_p.S78S|MAP7_uc011edi.1_Silent_p.S78S|MAP7_uc010kgq.1_Silent_p.S130S|MAP7_uc003qha.1_Silent_p.S187S|MAP7_uc010kgr.2_Silent_p.S78S|MAP7_uc010kgt.2_Silent_p.S246S	NM_003980	NP_003971	Q14244	MAP7_HUMAN	microtubule-associated protein 7	224					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)														---	---	---	---
MAP7	9053	broad.mit.edu	37	6	136742893	136742893	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:136742893G>A	uc003qgz.2	-	2	358	c.112C>T	c.(112-114)CGC>TGC	p.R38C	MAP7_uc011edf.1_Missense_Mutation_p.R23C|MAP7_uc011edg.1_Missense_Mutation_p.R60C|MAP7_uc010kgu.2_Missense_Mutation_p.R60C|MAP7_uc011edh.1_Missense_Mutation_p.R60C|MAP7_uc010kgv.2_Missense_Mutation_p.R60C|MAP7_uc010kgs.2_5'UTR|MAP7_uc011edi.1_5'UTR|MAP7_uc010kgq.1_Missense_Mutation_p.R38C|MAP7_uc003qha.1_Missense_Mutation_p.R38C|MAP7_uc010kgr.2_Intron|MAP7_uc010kgt.2_Missense_Mutation_p.R60C	NM_003980	NP_003971	Q14244	MAP7_HUMAN	microtubule-associated protein 7	38					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)														---	---	---	---
TNFAIP3	7128	broad.mit.edu	37	6	138202374	138202374	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:138202374C>T	uc003qhr.2	+	9	2357	c.2291C>T	c.(2290-2292)GCC>GTC	p.A764V	TNFAIP3_uc003qhs.2_Missense_Mutation_p.A764V	NM_006290	NP_006281	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	764	Interaction with NAF1 (By similarity).|A20-type 7.				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(22)|p.A764fs*28(1)		haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)				D|N|F		marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma								---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146351044	146351044	+	Silent	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:146351044C>A	uc010khw.1	+	2	861	c.391C>A	c.(391-393)CGA>AGA	p.R131R	GRM1_uc010khu.1_Silent_p.R131R|GRM1_uc010khv.1_Silent_p.R131R|GRM1_uc003qll.2_Silent_p.R131R|GRM1_uc011edz.1_Silent_p.R131R|GRM1_uc011eea.1_Silent_p.R131R	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	131	Extracellular (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)													---	---	---	---
PLEKHG1	57480	broad.mit.edu	37	6	151054849	151054849	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151054849G>A	uc003qny.1	+	3	344	c.32G>A	c.(31-33)AGC>AAC	p.S11N	PLEKHG1_uc011eel.1_Missense_Mutation_p.S51N|PLEKHG1_uc011eem.1_Missense_Mutation_p.S70N|PLEKHG1_uc003qnz.2_Missense_Mutation_p.S11N	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	11					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)														---	---	---	---
C6orf211	79624	broad.mit.edu	37	6	151789994	151789994	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151789994G>A	uc003qok.1	+	5	1334	c.1075G>A	c.(1075-1077)GCA>ACA	p.A359T	C6orf211_uc011ees.1_Missense_Mutation_p.A240T	NM_024573	NP_078849	Q9H993	CF211_HUMAN	hypothetical protein LOC79624	359							protein binding				0			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)														---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152734552	152734552	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152734552T>G	uc010kiw.2	-	42	6767	c.6165A>C	c.(6163-6165)GAA>GAC	p.E2055D	SYNE1_uc003qot.3_Missense_Mutation_p.E2062D|SYNE1_uc003qou.3_Missense_Mutation_p.E2055D|SYNE1_uc010kjb.1_Missense_Mutation_p.E2038D	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2055	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)			---	---	---	---
TULP4	56995	broad.mit.edu	37	6	158900838	158900838	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:158900838C>T	uc003qrf.2	+	7	2439	c.1082C>T	c.(1081-1083)TCA>TTA	p.S361L	TULP4_uc011efo.1_Missense_Mutation_p.S361L|TULP4_uc003qrg.2_Missense_Mutation_p.S361L	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	361					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)														---	---	---	---
AGPAT4	56895	broad.mit.edu	37	6	161560486	161560486	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:161560486G>A	uc003qtr.1	-	8	1237	c.1010C>T	c.(1009-1011)ACG>ATG	p.T337M	AGPAT4_uc003qts.1_Missense_Mutation_p.T197M|AGPAT4_uc011egb.1_Missense_Mutation_p.T175M	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	337					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding				0		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)														---	---	---	---
C6orf118	168090	broad.mit.edu	37	6	165715715	165715715	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:165715715C>T	uc003qum.3	-	2	132	c.96G>A	c.(94-96)ACG>ACA	p.T32T	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	32											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)														---	---	---	---
GPR31	2853	broad.mit.edu	37	6	167570859	167570859	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:167570859T>C	uc011egq.1	-	1	461	c.461A>G	c.(460-462)GAG>GGG	p.E154G		NM_005299	NP_005290	O00270	GPR31_HUMAN	G protein-coupled receptor 31	154	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)														---	---	---	---
MLLT4	4301	broad.mit.edu	37	6	168289993	168289993	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:168289993G>A	uc003qwd.2	+	7	1135	c.993G>A	c.(991-993)TGG>TGA	p.W331*	MLLT4_uc003qwb.1_Nonsense_Mutation_p.W331*|MLLT4_uc003qwc.1_Nonsense_Mutation_p.W332*|MLLT4_uc003qwf.2_Nonsense_Mutation_p.W32*	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	332	Ras-associating 2.				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								---	---	---	---
TBP	6908	broad.mit.edu	37	6	170871061	170871061	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:170871061G>A	uc003qxt.2	+	3	469	c.237G>A	c.(235-237)CAG>CAA	p.Q79Q	TBP_uc003qxu.2_Silent_p.Q79Q|TBP_uc011ehf.1_Silent_p.Q59Q|TBP_uc011ehg.1_Silent_p.Q79Q	NM_003194	NP_003185	P20226	TBP_HUMAN	TATA box binding protein	79	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)														---	---	---	---
SUN1	23353	broad.mit.edu	37	7	883121	883121	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:883121G>A	uc011jvp.1	+	6	701	c.622G>A	c.(622-624)GTG>ATG	p.V208M	SUN1_uc010ksa.1_Missense_Mutation_p.V229M|SUN1_uc003sje.1_Missense_Mutation_p.V208M|SUN1_uc003sjf.2_Missense_Mutation_p.V158M|SUN1_uc011jvq.1_Intron|SUN1_uc003sjg.2_Missense_Mutation_p.V19M	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	208	Nuclear.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0																		---	---	---	---
GET4	51608	broad.mit.edu	37	7	926298	926298	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:926298G>A	uc003sjl.1	+						GET4_uc003sjj.1_Intron	NM_015949	NP_057033			hypothetical protein LOC51608						tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding				0																		---	---	---	---
INTS1	26173	broad.mit.edu	37	7	1511207	1511207	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1511207C>T	uc003skn.2	-	45	6356	c.6255G>A	c.(6253-6255)TCG>TCA	p.S2085S	INTS1_uc003skm.1_Silent_p.S222S	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	2085					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)														---	---	---	---
CARD11	84433	broad.mit.edu	37	7	2984023	2984023	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:2984023C>T	uc003smv.2	-	5	911	c.507G>A	c.(505-507)ACG>ACA	p.T169T		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	169	Potential.				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								---	---	---	---
MIOS	54468	broad.mit.edu	37	7	7612723	7612723	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:7612723G>A	uc003srf.2	+	4	925	c.617G>A	c.(616-618)CGT>CAT	p.R206H	MIOS_uc010ktp.1_Missense_Mutation_p.R206H	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog	206	WD 3.										0																		---	---	---	---
TMEM106B	54664	broad.mit.edu	37	7	12263918	12263918	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:12263918T>C	uc011jxk.1	+	5	748	c.348T>C	c.(346-348)CTT>CTC	p.L116L	TMEM106B_uc003ssh.2_Silent_p.L116L	NM_018374	NP_060844	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	116	Helical; (Potential).					integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)														---	---	---	---
TMEM195	392636	broad.mit.edu	37	7	15601339	15601339	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:15601339T>C	uc003stb.1	-							NM_001004320	NP_001004320			transmembrane protein 195						ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0																		---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21640745	21640745	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:21640745A>G	uc003svc.2	+	17	3404	c.3373A>G	c.(3373-3375)AAG>GAG	p.K1125E		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1125	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				---	---	---	---
SKAP2	8935	broad.mit.edu	37	7	26729927	26729927	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:26729927T>C	uc003syc.2	-	10	1144	c.851A>G	c.(850-852)CAG>CGG	p.Q284R	SKAP2_uc011jzi.1_Missense_Mutation_p.Q112R|SKAP2_uc011jzj.1_Missense_Mutation_p.Q269R	NM_003930	NP_003921	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	284					B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			pancreas(1)	1																		---	---	---	---
HOXA1	3198	broad.mit.edu	37	7	27134370	27134370	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:27134370G>A	uc003sye.2	-	2	791	c.697C>T	c.(697-699)CGC>TGC	p.R233C	HOXA1_uc003syd.2_3'UTR|uc003syg.2_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	homeobox A1 isoform a	233	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)	3																		---	---	---	---
ADCY1	107	broad.mit.edu	37	7	45699707	45699707	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45699707C>T	uc003tne.3	+	7	1392	c.1374C>T	c.(1372-1374)TAC>TAT	p.Y458Y	ADCY1_uc003tnd.2_Silent_p.Y233Y	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	458	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	45725766	45725766	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45725766C>T	uc003tne.3	+	13	2297	c.2279C>T	c.(2278-2280)ACC>ATC	p.T760I		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	760	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 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)													---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48285466	48285466	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48285466G>A	uc003toq.2	+	13	1523	c.1498G>A	c.(1498-1500)GCG>ACG	p.A500T	ABCA13_uc010kyr.2_Missense_Mutation_p.A3T	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	500					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10																		---	---	---	---
ASL	435	broad.mit.edu	37	7	65547883	65547883	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:65547883C>T	uc003tuo.2	+	5	419	c.308C>T	c.(307-309)ACG>ATG	p.T103M	ASL_uc011kdu.1_Missense_Mutation_p.T103M|ASL_uc010kzx.1_Missense_Mutation_p.T103M|ASL_uc011kdv.1_Missense_Mutation_p.T103M|ASL_uc003tup.2_Missense_Mutation_p.T103M|ASL_uc003tur.2_Missense_Mutation_p.T103M|ASL_uc003tuq.2_Missense_Mutation_p.T103M	NM_000048	NP_000039	P04424	ARLY_HUMAN	argininosuccinate lyase isoform 1	103					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(2)	2					L-Arginine(DB00125)													---	---	---	---
LIMK1	3984	broad.mit.edu	37	7	73513447	73513447	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73513447G>A	uc003uaa.1	+	5	652	c.487G>A	c.(487-489)GTC>ATC	p.V163I	RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Missense_Mutation_p.V129I|LIMK1_uc003uac.1_5'UTR	NM_002314	NP_002305	P53667	LIMK1_HUMAN	LIM domain kinase 1	163					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)																---	---	---	---
CD36	948	broad.mit.edu	37	7	80285858	80285858	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:80285858A>C	uc003uhc.2	+	7	807	c.123A>C	c.(121-123)CAA>CAC	p.Q41H	CD36_uc003uhd.3_Missense_Mutation_p.Q41H|CD36_uc011kgv.1_5'UTR|CD36_uc003uhe.3_Missense_Mutation_p.Q41H|CD36_uc003uhf.3_Missense_Mutation_p.Q41H|CD36_uc003uhg.3_Missense_Mutation_p.Q41H|CD36_uc003uhh.3_Missense_Mutation_p.Q41H	NM_001127444	NP_001120916	P16671	CD36_HUMAN	CD36 antigen	41	Extracellular (Potential).				cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			ovary(1)	1																		---	---	---	---
ABCB4	5244	broad.mit.edu	37	7	87073079	87073079	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87073079A>T	uc003uiv.1	-	11	1206	c.1130T>A	c.(1129-1131)ATT>AAT	p.I377N	ABCB4_uc003uiw.1_Missense_Mutation_p.I377N|ABCB4_uc003uix.1_Missense_Mutation_p.I377N	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	377	Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)																	---	---	---	---
PTCD1	26024	broad.mit.edu	37	7	99022445	99022445	+	Silent	SNP	G	A	A	rs142516229		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99022445G>A	uc003uqh.2	-	6	1841	c.1710C>T	c.(1708-1710)GAC>GAT	p.D570D	PTCD1_uc011kiw.1_Silent_p.D619D	NM_015545	NP_056360	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	570	PPR 8.									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	99048427	99048427	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99048427C>T	uc011kiw.1	-						CPSF4_uc003uqi.2_Intron|CPSF4_uc003uqj.2_Intron|CPSF4_uc003uqk.2_Intron|CPSF4_uc011kix.1_Intron	NM_015545	NP_056360			pentatricopeptide repeat domain 1											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)															---	---	---	---
ZKSCAN1	7586	broad.mit.edu	37	7	99630923	99630923	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99630923G>A	uc003usk.1	+						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	99955941	99955941	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99955941C>T	uc003uuk.2	+	15	2512	c.16C>T	c.(16-18)CTG>TTG	p.L6L	PILRB_uc003uul.2_Silent_p.L6L|PILRB_uc003uum.1_RNA|PILRB_uc003uun.2_Silent_p.L6L	NM_013440	NP_038468	Q9UKJ0	PILRB_HUMAN	paired immunoglobulin-like type 2 receptor beta	6					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)																	---	---	---	---
MEPCE	56257	broad.mit.edu	37	7	100028470	100028470	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100028470G>A	uc003uuw.2	+	1	942	c.829G>A	c.(829-831)GGA>AGA	p.G277R	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	277							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	100085812	100085812	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100085812C>T	uc003uvd.1	+	4	627	c.468C>T	c.(466-468)AGC>AGT	p.S156S	C7orf51_uc003uve.1_5'UTR	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	156										skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100391438	100391438	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100391438G>A	uc003uwj.2	+						ZAN_uc003uwk.2_Intron|ZAN_uc003uwl.2_Intron|ZAN_uc010lhh.2_Intron|ZAN_uc010lhi.2_Intron|ZAN_uc011kke.1_Intron	NM_003386	NP_003377			zonadhesin isoform 3						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)															---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100678887	100678887	+	Missense_Mutation	SNP	C	T	T	rs141608296		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100678887C>T	uc003uxp.1	+	3	4243	c.4190C>T	c.(4189-4191)CCG>CTG	p.P1397L	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1397	Extracellular (Potential).|59 X approximate tandem repeats.|21.|Ser-rich.					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	100732016	100732016	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100732016A>C	uc003uxq.2	+	3	1654	c.1423A>C	c.(1423-1425)AGC>CGC	p.S475R	TRIM56_uc003uxr.2_Intron	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	tripartite motif-containing 56	475					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)																	---	---	---	---
VGF	7425	broad.mit.edu	37	7	100807605	100807605	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100807605C>T	uc003uxx.3	-	2	738	c.520G>A	c.(520-522)GCC>ACC	p.A174T		NM_003378	NP_003369	O15240	VGF_HUMAN	VGF nerve growth factor inducible precursor	174					response to cAMP	extracellular space|transport vesicle	growth factor activity				0	Lung NSC(181;0.168)|all_lung(186;0.215)																	---	---	---	---
ALKBH4	54784	broad.mit.edu	37	7	102098052	102098052	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:102098052G>A	uc003uzl.2	-	3	703	c.698C>T	c.(697-699)GCC>GTC	p.A233V	ALKBH4_uc003uzm.2_Missense_Mutation_p.A160V	NM_017621	NP_060091	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4	233						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0																		---	---	---	---
DNAJC2	27000	broad.mit.edu	37	7	102982389	102982389	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:102982389C>T	uc003vbo.2	-	2	328	c.77G>A	c.(76-78)TGT>TAT	p.C26Y	DNAJC2_uc003vbn.2_5'UTR|DNAJC2_uc010lix.2_Missense_Mutation_p.C26Y|DNAJC2_uc003vbp.2_Intron|DNAJC2_uc003vbq.1_RNA|DNAJC2_uc003vbr.1_Missense_Mutation_p.C26Y	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	26	Epitope (recognized by CD8(+) cytotoxic T-lymphocytes).				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			kidney(1)	1																		---	---	---	---
PSMC2	5701	broad.mit.edu	37	7	103004675	103004675	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:103004675C>T	uc003vbs.2	+	8	747	c.677C>T	c.(676-678)GCG>GTG	p.A226V	SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.A89V	NM_002803	NP_002794	P35998	PRS7_HUMAN	proteasome 26S ATPase subunit 2	226					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	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0																		---	---	---	---
RELN	5649	broad.mit.edu	37	7	103293021	103293021	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:103293021A>G	uc003vca.2	-	14	1900	c.1740T>C	c.(1738-1740)TGT>TGC	p.C580C	RELN_uc010liz.2_Silent_p.C580C	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	580					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)														---	---	---	---
PUS7	54517	broad.mit.edu	37	7	105148756	105148756	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:105148756C>T	uc003vcx.2	-	2	423	c.204G>A	c.(202-204)GGG>GGA	p.G68G	PUS7_uc010lji.2_Silent_p.G68G|PUS7_uc003vcy.2_Silent_p.G68G|PUS7_uc003vcz.1_Silent_p.G68G	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog	68					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)	1																		---	---	---	---
LAMB1	3912	broad.mit.edu	37	7	107616128	107616128	+	Intron	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107616128A>G	uc003vew.2	-						LAMB1_uc003vev.2_Intron|LAMB1_uc003vex.2_Intron|LAMB1_uc010ljn.1_Intron	NM_002291	NP_002282			laminin, beta 1 precursor						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	107738955	107738955	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107738955G>A	uc010ljo.1	-	11	1337	c.1253C>T	c.(1252-1254)TCT>TTT	p.S418F	LAMB4_uc003vey.2_Missense_Mutation_p.S418F	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	418	Laminin EGF-like 3.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8																		---	---	---	---
TMEM168	64418	broad.mit.edu	37	7	112423832	112423832	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:112423832C>T	uc003vgn.2	-	2	1441	c.1049G>A	c.(1048-1050)CGC>CAC	p.R350H	TMEM168_uc010lju.2_Missense_Mutation_p.R350H|TMEM168_uc011kmr.1_Intron	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN	transmembrane protein 168	350						integral to membrane|transport vesicle				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
C7orf60	154743	broad.mit.edu	37	7	112555379	112555379	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:112555379C>T	uc003vgo.1	-	2	411	c.284G>A	c.(283-285)CGT>CAT	p.R95H	C7orf60_uc011kms.1_Missense_Mutation_p.R121H	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	hypothetical protein LOC154743	95										ovary(2)|skin(1)	3																		---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113558541	113558541	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:113558541C>G	uc010ljy.1	-	1	542	c.511G>C	c.(511-513)GAC>CAC	p.D171H		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	171	CBM21.				glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34																		---	---	---	---
ANKRD7	56311	broad.mit.edu	37	7	117874902	117874902	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:117874902G>A	uc003vji.2	+	3	615	c.442G>A	c.(442-444)GAA>AAA	p.E148K		NM_019644	NP_062618	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	148	ANK 3.				male gonad development						0																		---	---	---	---
PTPRZ1	5803	broad.mit.edu	37	7	121679626	121679626	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121679626A>C	uc003vjy.2	+	20	6016	c.5621A>C	c.(5620-5622)AAC>ACC	p.N1874T	PTPRZ1_uc003vjz.2_Missense_Mutation_p.N1007T|PTPRZ1_uc011knt.1_Missense_Mutation_p.N464T	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1874	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				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																		---	---	---	---
SMO	6608	broad.mit.edu	37	7	128850231	128850231	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128850231G>A	uc003vor.2	+	9	1774	c.1494G>A	c.(1492-1494)CTG>CTA	p.L498L	SMO_uc003vos.2_Silent_p.L173L	NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	498	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 						OREG0018305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131982977	131982977	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:131982977C>T	uc003vra.3	-	4	1605	c.1376G>A	c.(1375-1377)CGG>CAG	p.R459Q		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	459	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1																		---	---	---	---
ZC3HAV1L	92092	broad.mit.edu	37	7	138713581	138713581	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138713581C>T	uc003vum.1	-	3	639	c.627G>A	c.(625-627)CGG>CGA	p.R209R		NM_080660	NP_542391	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	209											0																		---	---	---	---
TBXAS1	6916	broad.mit.edu	37	7	139611034	139611034	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:139611034G>T	uc011kqv.1	+	4	414	c.250G>T	c.(250-252)GGT>TGT	p.G84C	TBXAS1_uc003vvh.2_Missense_Mutation_p.G84C|TBXAS1_uc010lne.2_Missense_Mutation_p.G16C|TBXAS1_uc011kqu.1_Missense_Mutation_p.G35C|TBXAS1_uc003vvi.2_Missense_Mutation_p.G84C|TBXAS1_uc003vvj.2_Missense_Mutation_p.G84C|TBXAS1_uc011kqw.1_Missense_Mutation_p.G64C|TBXAS1_uc011kqx.1_Missense_Mutation_p.G84C	NM_001130966	NP_001124438	P24557	THAS_HUMAN	thromboxane A synthase 1, platelet isoform	83	Helical; (Potential).				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			ovary(2)|breast(1)	3	Melanoma(164;0.0142)																	---	---	---	---
NDUFB2	4708	broad.mit.edu	37	7	140402766	140402766	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:140402766T>C	uc003vwa.2	+	2	263	c.199T>C	c.(199-201)TTC>CTC	p.F67L	NDUFB2_uc010lnl.2_RNA	NM_004546	NP_004537	O95178	NDUB2_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	67					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			ovary(1)|central_nervous_system(1)	2	Melanoma(164;0.00956)				NADH(DB00157)													---	---	---	---
TAS2R3	50831	broad.mit.edu	37	7	141464526	141464526	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141464526C>T	uc003vwp.1	+	1	630	c.568C>T	c.(568-570)CTG>TTG	p.L190L		NM_016943	NP_058639	Q9NYW6	TA2R3_HUMAN	taste receptor T2R3	190	Helical; Name=5; (Potential).				sensory perception of taste		taste receptor activity			central_nervous_system(1)	1	Melanoma(164;0.0171)																	---	---	---	---
TAS2R4	50832	broad.mit.edu	37	7	141478798	141478798	+	Silent	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141478798C>A	uc003vwq.1	+	1	510	c.510C>A	c.(508-510)ATC>ATA	p.I170I		NM_016944	NP_058640	Q9NYW5	TA2R4_HUMAN	taste receptor T2R4	170	Extracellular (Potential).				sensory perception of taste	cilium membrane	taste receptor activity				0	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)														---	---	---	---
TRPV5	56302	broad.mit.edu	37	7	142605706	142605706	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142605706C>T	uc003wby.1	-	15	2428	c.2164G>A	c.(2164-2166)GAT>AAT	p.D722N		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	722	Cytoplasmic (Potential).|Involved in Ca(2+)-dependent inactivation (By similarity).				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)																	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149502667	149502667	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149502667G>A	uc010lpk.2	+	58	8480	c.8480G>A	c.(8479-8481)TGC>TAC	p.C2827Y		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	2827	TSP type-1 7.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)															---	---	---	---
GBX1	2636	broad.mit.edu	37	7	150846112	150846112	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150846112A>G	uc011kvg.1	-	2	888	c.656T>C	c.(655-657)CTG>CCG	p.L219P		NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	gastrulation brain homeo box 1	219						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---
GALNT11	63917	broad.mit.edu	37	7	151800311	151800311	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151800311G>A	uc010lqg.1	+	4	764	c.534G>A	c.(532-534)ACG>ACA	p.T178T	GALNT11_uc011kvm.1_Silent_p.T97T|GALNT11_uc003wku.2_Silent_p.T178T|GALNT11_uc003wkv.1_Silent_p.T178T|GALNT11_uc011kvn.1_RNA	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	N-acetylgalactosaminyltransferase 11	178	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)														---	---	---	---
GALNT11	63917	broad.mit.edu	37	7	151805218	151805218	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151805218G>A	uc010lqg.1	+	6	1038	c.808G>A	c.(808-810)GTG>ATG	p.V270M	GALNT11_uc011kvm.1_Missense_Mutation_p.V189M|GALNT11_uc003wku.2_Missense_Mutation_p.V270M|GALNT11_uc011kvn.1_RNA|GALNT11_uc003wkw.1_Missense_Mutation_p.V18M	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	N-acetylgalactosaminyltransferase 11	270	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)														---	---	---	---
MLL3	58508	broad.mit.edu	37	7	151845212	151845212	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151845212G>A	uc003wla.2	-	52	14019	c.13800C>T	c.(13798-13800)TGC>TGT	p.C4600C	MLL3_uc003wkz.2_Silent_p.C3718C|MLL3_uc003wkx.2_Silent_p.C758C|MLL3_uc003wky.2_Silent_p.C2164C	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	4600	FYR N-terminal.				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								---	---	---	---
CLN8	2055	broad.mit.edu	37	8	1728566	1728566	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:1728566A>C	uc003wpo.3	+	3	999	c.694A>C	c.(694-696)ACA>CCA	p.T232P		NM_018941	NP_061764	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8	232	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)														---	---	---	---
PPP1R3B	79660	broad.mit.edu	37	8	8998807	8998807	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:8998807C>T	uc003wsn.3	-	2	520	c.355G>A	c.(355-357)GCA>ACA	p.A119T	PPP1R3B_uc003wso.3_Missense_Mutation_p.A118T	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory (inhibitor)	119					glycogen metabolic process					ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)														---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10470612	10470612	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10470612G>A	uc003wtc.2	-	4	1225	c.996C>T	c.(994-996)GTC>GTT	p.V332V		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	332					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)														---	---	---	---
LONRF1	91694	broad.mit.edu	37	8	12594548	12594548	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:12594548C>A	uc003wwd.1	-	5	1278	c.1215G>T	c.(1213-1215)GAG>GAT	p.E405D	LONRF1_uc011kxv.1_Missense_Mutation_p.E5D|LONRF1_uc010lsp.1_Missense_Mutation_p.E5D	NM_152271	NP_689484	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger	405					proteolysis		ATP-dependent peptidase activity|zinc ion binding			ovary(1)	1				READ - Rectum adenocarcinoma(644;0.236)														---	---	---	---
PCM1	5108	broad.mit.edu	37	8	17817868	17817868	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17817868T>C	uc003wyi.3	+	15	2659	c.2237T>C	c.(2236-2238)CTA>CCA	p.L746P	PCM1_uc011kyh.1_Missense_Mutation_p.L746P|PCM1_uc003wyj.3_Missense_Mutation_p.L747P	NM_006197	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	746	Potential.				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								---	---	---	---
NAT2	10	broad.mit.edu	37	8	18257800	18257800	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:18257800C>T	uc003wyw.1	+	2	394	c.287C>T	c.(286-288)CCT>CTT	p.P96L		NM_000015	NP_000006	P11245	ARY2_HUMAN	N-acetyltransferase 2	96					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			ovary(1)|skin(1)	2				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)										Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				---	---	---	---
LZTS1	11178	broad.mit.edu	37	8	20107417	20107417	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:20107417T>G	uc003wzr.2	-	3	1718	c.1607A>C	c.(1606-1608)AAG>ACG	p.K536T	LZTS1_uc010ltg.1_Missense_Mutation_p.K477T	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	536					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)														---	---	---	---
LZTS1	11178	broad.mit.edu	37	8	20110667	20110667	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:20110667C>A	uc003wzr.2	-	2	886	c.775G>T	c.(775-777)GAC>TAC	p.D259Y	LZTS1_uc010ltg.1_Missense_Mutation_p.D259Y	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	259	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)														---	---	---	---
GFRA2	2675	broad.mit.edu	37	8	21608373	21608373	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:21608373C>T	uc003wzu.1	-	4	1196	c.521G>A	c.(520-522)TGC>TAC	p.C174Y	GFRA2_uc003wzv.1_Missense_Mutation_p.C69Y|GFRA2_uc003wzw.1_Missense_Mutation_p.C41Y|DOK2_uc003wzx.1_Intron	NM_001495	NP_001486	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2 isoform a	174						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity				0				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)														---	---	---	---
HR	55806	broad.mit.edu	37	8	21985114	21985114	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:21985114C>T	uc003xas.2	-	3	1506	c.841G>A	c.(841-843)GCT>ACT	p.A281T	HR_uc003xat.2_Missense_Mutation_p.A281T	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	281							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)														---	---	---	---
BMP1	649	broad.mit.edu	37	8	22066962	22066962	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22066962C>T	uc003xbg.2	+	19	2824	c.2580C>T	c.(2578-2580)TGC>TGT	p.C860C	BMP1_uc011kzc.1_Silent_p.C609C|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	NM_006129	NP_006120	P13497	BMP1_HUMAN	bone morphogenetic protein 1 isoform 3	860	CUB 5.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)	3				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)														---	---	---	---
KIAA1967	57805	broad.mit.edu	37	8	22473348	22473348	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22473348G>A	uc003xch.2	+	13	1668	c.1531G>A	c.(1531-1533)GCA>ACA	p.A511T	KIAA1967_uc003xci.2_Missense_Mutation_p.A511T|KIAA1967_uc003xcj.1_Missense_Mutation_p.A180T	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	511					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)														---	---	---	---
LOXL2	4017	broad.mit.edu	37	8	23174526	23174526	+	Silent	SNP	G	A	A	rs142665521	byFrequency	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:23174526G>A	uc003xdh.1	-	9	1911	c.1572C>T	c.(1570-1572)GAC>GAT	p.D524D	LOXL2_uc010lty.1_Silent_p.D63D	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	524	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)														---	---	---	---
NEFM	4741	broad.mit.edu	37	8	24771399	24771399	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:24771399G>A	uc003xed.3	+	1	126	c.93G>A	c.(91-93)CCG>CCA	p.P31P	NEFM_uc011lac.1_Silent_p.P31P|NEFM_uc010lue.2_5'Flank|uc010luc.1_3'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	31	Head.					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)														---	---	---	---
TRIM35	23087	broad.mit.edu	37	8	27145310	27145310	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27145310C>T	uc003xfl.1	-	6	1321	c.1239G>A	c.(1237-1239)TCG>TCA	p.S413S	TRIM35_uc010lup.1_3'UTR	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	tripartite motif-containing 35 isoform 2	413	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding				0		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)														---	---	---	---
ZNF395	55893	broad.mit.edu	37	8	28218564	28218564	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:28218564C>A	uc003xgq.2	-	2	166	c.78G>T	c.(76-78)GAG>GAT	p.E26D	ZNF395_uc003xgt.2_Missense_Mutation_p.E26D|ZNF395_uc003xgr.2_Missense_Mutation_p.E26D|ZNF395_uc003xgs.2_Missense_Mutation_p.E26D	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	26					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)														---	---	---	---
KIF13B	23303	broad.mit.edu	37	8	29005051	29005051	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:29005051G>A	uc003xhh.3	-	17	1941	c.1882C>T	c.(1882-1884)CGC>TGC	p.R628C	KIF13B_uc003xhj.2_Missense_Mutation_p.R525C	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	628	Potential.				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	30404799	30404799	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30404799T>C	uc003xic.1	+						RBPMS_uc003xid.1_Intron|RBPMS_uc003xie.1_Intron|RBPMS_uc003xif.1_Intron|RBPMS_uc003xib.2_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)												OREG0018694	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
WRN	7486	broad.mit.edu	37	8	30958372	30958372	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30958372G>A	uc003xio.3	+	18	2777	c.1989G>A	c.(1987-1989)ACG>ACA	p.T663T	WRN_uc010lvk.2_Silent_p.T130T	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	663	Helicase ATP-binding.				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				---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35579836	35579836	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:35579836A>G	uc003xjr.1	+	9	1554	c.1226A>G	c.(1225-1227)GAC>GGC	p.D409G	UNC5D_uc003xjs.1_Missense_Mutation_p.D404G|UNC5D_uc003xju.1_5'Flank|UNC5D_uc003xjt.1_Missense_Mutation_p.D167G	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	409	Cytoplasmic (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)														---	---	---	---
RAB11FIP1	80223	broad.mit.edu	37	8	37730005	37730005	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:37730005G>A	uc003xkm.1	-	4	2359	c.2315C>T	c.(2314-2316)GCG>GTG	p.A772V	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.A101V|RAB11FIP1_uc003xko.1_Missense_Mutation_p.A101V|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	772					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)															---	---	---	---
IKBKB	3551	broad.mit.edu	37	8	42175289	42175289	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42175289C>T	uc003xow.1	+	12	1417	c.1240C>T	c.(1240-1242)CTT>TTT	p.L414F	IKBKB_uc010lxh.1_Missense_Mutation_p.L309F|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Missense_Mutation_p.L191F|IKBKB_uc003xox.1_Missense_Mutation_p.L135F|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Missense_Mutation_p.L412F|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.L355F	NM_001556	NP_001547	O14920	IKKB_HUMAN	inhibitor of nuclear factor kappa B kinase beta	414					anti-apoptosis|innate immune response|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 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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(3)|ovary(2)|lung(1)|skin(1)	7	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)													---	---	---	---
HOOK3	84376	broad.mit.edu	37	8	42837826	42837826	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42837826A>G	uc003xpr.2	+	14	1620	c.1378A>G	c.(1378-1380)ACA>GCA	p.T460A	HOOK3_uc010lxq.1_Missense_Mutation_p.T460A	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	golgi-associated microtubule-binding protein	460					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	48825009	48825009	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48825009C>T	uc003xqi.2	-	25	2952	c.2895G>A	c.(2893-2895)ACG>ACA	p.T965T	PRKDC_uc003xqj.2_Silent_p.T965T|PRKDC_uc011ldh.1_Silent_p.T965T	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	965					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					---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52721799	52721799	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:52721799G>A	uc003xqu.3	-	1	207	c.106C>T	c.(106-108)CGC>TGC	p.R36C		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	36	LRRNT.				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)																---	---	---	---
RP1	6101	broad.mit.edu	37	8	55540178	55540178	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:55540178G>A	uc003xsd.1	+	4	3884	c.3736G>A	c.(3736-3738)GCC>ACC	p.A1246T	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1246					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	55540519	55540519	+	Silent	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:55540519T>G	uc003xsd.1	+	4	4225	c.4077T>G	c.(4075-4077)ACT>ACG	p.T1359T	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1359					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)															---	---	---	---
TOX	9760	broad.mit.edu	37	8	59728047	59728047	+	Silent	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:59728047A>C	uc003xtw.1	-	7	1463	c.1242T>G	c.(1240-1242)GCT>GCG	p.A414A		NM_014729	NP_055544	O94900	TOX_HUMAN	thymus high mobility group box protein TOX	414						nucleus	DNA binding			kidney(2)|lung(1)|skin(1)	4		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)																---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61765914	61765914	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:61765914G>T	uc003xue.2	+	31	7107	c.6630G>T	c.(6628-6630)GAG>GAT	p.E2210D		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2210	Glu-rich.				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)															---	---	---	---
PDE7A	5150	broad.mit.edu	37	8	66639191	66639191	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:66639191A>G	uc003xvq.2	-	9	851	c.839T>C	c.(838-840)GTA>GCA	p.V280A	PDE7A_uc003xvr.2_Missense_Mutation_p.V280A|PDE7A_uc003xvp.2_Missense_Mutation_p.V254A	NM_002604	NP_002595	Q13946	PDE7A_HUMAN	phosphodiesterase 7A isoform b	280	Catalytic (By similarity).					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)													---	---	---	---
UBE2W	55284	broad.mit.edu	37	8	74722818	74722818	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:74722818C>A	uc003xzv.2	-	4	310	c.257G>T	c.(256-258)AGC>ATC	p.S86I	UBE2W_uc003xzt.2_Missense_Mutation_p.S86I|UBE2W_uc003xzu.2_Missense_Mutation_p.S97I|UBE2W_uc003xzw.2_RNA	NM_018299	NP_060769	Q96B02	UBE2W_HUMAN	ubiquitin-conjugating enzyme E2W (putative)	86					protein K11-linked ubiquitination|protein monoubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity				0	Breast(64;0.0311)		Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)															---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89198805	89198805	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:89198805C>T	uc003yeb.3	-	3	586	c.304G>A	c.(304-306)GGT>AGT	p.G102S	MMP16_uc003yec.2_Missense_Mutation_p.G102S	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	102	Cysteine switch (By similarity).				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																		---	---	---	---
CALB1	793	broad.mit.edu	37	8	91078155	91078155	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:91078155T>C	uc003yel.1	-	6	603	c.421A>G	c.(421-423)ACA>GCA	p.T141A	CALB1_uc011lge.1_Missense_Mutation_p.T84A	NM_004929	NP_004920	P05937	CALB1_HUMAN	calbindin 1	141						nucleus	calcium ion binding|vitamin D binding			pancreas(1)	1			BRCA - Breast invasive adenocarcinoma(11;0.00953)															---	---	---	---
GDF6	392255	broad.mit.edu	37	8	97157037	97157037	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:97157037C>T	uc003yhp.2	-	2	1222	c.1122G>A	c.(1120-1122)GCG>GCA	p.A374A		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	374					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)																	---	---	---	---
TSPYL5	85453	broad.mit.edu	37	8	98289908	98289908	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:98289908A>G	uc003yhy.2	-	1	269	c.165T>C	c.(163-165)GCT>GCC	p.A55A		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	TSPY-like 5	55					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			large_intestine(1)|ovary(1)	2	Breast(36;2.56e-06)																	---	---	---	---
POP1	10940	broad.mit.edu	37	8	99168525	99168525	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99168525G>A	uc003yij.3	+	15	2405	c.2305G>A	c.(2305-2307)GCA>ACA	p.A769T	POP1_uc011lgv.1_Missense_Mutation_p.A769T|POP1_uc003yik.2_Missense_Mutation_p.A769T	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	769					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)															---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100523683	100523683	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:100523683A>G	uc003yiv.2	+	29	4762	c.4651A>G	c.(4651-4653)ACA>GCA	p.T1551A	VPS13B_uc003yiw.2_Missense_Mutation_p.T1526A|VPS13B_uc003yix.1_Missense_Mutation_p.T1021A	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	1551					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	101076163	101076163	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:101076163A>C	uc003yjb.1	-	8	1028	c.833T>G	c.(832-834)GTG>GGG	p.V278G	RGS22_uc003yja.1_Missense_Mutation_p.V97G|RGS22_uc003yjc.1_Missense_Mutation_p.V266G|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	278					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)															---	---	---	---
PABPC1	26986	broad.mit.edu	37	8	101733798	101733798	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:101733798G>A	uc003yjs.1	-	1	518	c.14C>T	c.(13-15)GCC>GTC	p.A5V	PABPC1_uc011lhc.1_Missense_Mutation_p.A5V|PABPC1_uc011lhd.1_Intron|PABPC1_uc003yjt.1_Missense_Mutation_p.A5V|PABPC1_uc003yju.2_RNA	NM_002568	NP_002559	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	5					mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity				0	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)															---	---	---	---
GRHL2	79977	broad.mit.edu	37	8	102631937	102631937	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:102631937T>C	uc010mbu.2	+							NM_024915	NP_079191			transcription factor CP2-like 3							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)															---	---	---	---
NCALD	83988	broad.mit.edu	37	8	102731832	102731832	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:102731832C>T	uc003yke.2	-	2	395	c.26G>A	c.(25-27)CGC>CAC	p.R9H	NCALD_uc003ykf.2_Missense_Mutation_p.R9H|NCALD_uc003ykg.2_Missense_Mutation_p.R9H|NCALD_uc003ykh.2_Missense_Mutation_p.R9H|NCALD_uc003yki.2_Missense_Mutation_p.R9H|NCALD_uc003ykj.2_Missense_Mutation_p.R9H|NCALD_uc003ykk.2_Missense_Mutation_p.R9H|NCALD_uc003ykl.2_Missense_Mutation_p.R9H	NM_032041	NP_114430	P61601	NCALD_HUMAN	neurocalcin delta	9					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)															---	---	---	---
NUDCD1	84955	broad.mit.edu	37	8	110308619	110308619	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110308619T>A	uc003ynb.3	-	3	564	c.453A>T	c.(451-453)AAA>AAT	p.K151N	NUDCD1_uc003yna.2_Missense_Mutation_p.K122N|NUDCD1_uc010mcl.2_Missense_Mutation_p.K64N|NUDCD1_uc010mcm.1_Missense_Mutation_p.K64N	NM_032869	NP_116258	Q96RS6	NUDC1_HUMAN	NudC domain containing 1 isoform 1	151										ovary(1)|breast(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)															---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113657441	113657441	+	Silent	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113657441T>G	uc003ynu.2	-	20	3366	c.3207A>C	c.(3205-3207)GGA>GGC	p.G1069G	CSMD3_uc003yns.2_Silent_p.G341G|CSMD3_uc003ynt.2_Silent_p.G1029G|CSMD3_uc011lhx.1_Silent_p.G965G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1069	Extracellular (Potential).|CUB 6.					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	113966979	113966979	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113966979T>C	uc003ynu.2	-	8	1513	c.1354A>G	c.(1354-1356)ATA>GTA	p.I452V	CSMD3_uc003ynt.2_Missense_Mutation_p.I412V|CSMD3_uc011lhx.1_Missense_Mutation_p.I348V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	452	Extracellular (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)			---	---	---	---
COLEC10	10584	broad.mit.edu	37	8	120114599	120114599	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:120114599A>G	uc003yoo.2	+	4	402	c.305A>G	c.(304-306)GAA>GGA	p.E102G		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 precursor	102	Collagen-like.					collagen|cytoplasm	mannose binding	p.E102K(1)		ovary(2)|skin(1)	3	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)															---	---	---	---
FBXO32	114907	broad.mit.edu	37	8	124544175	124544175	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124544175G>A	uc003yqr.2	-	4	527	c.335C>T	c.(334-336)GCC>GTC	p.A112V	FBXO32_uc003yqq.2_5'UTR|FBXO32_uc010mdk.2_Missense_Mutation_p.A112V	NM_058229	NP_478136	Q969P5	FBX32_HUMAN	F-box only protein 32 isoform 1	112										skin(3)|breast(2)|lung(1)	6	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)															---	---	---	---
FAM91A1	157769	broad.mit.edu	37	8	124797903	124797903	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124797903C>T	uc003yqv.2	+	11	945	c.884C>T	c.(883-885)GCC>GTC	p.A295V	FAM91A1_uc011lik.1_Missense_Mutation_p.A295V|FAM91A1_uc011lil.1_Missense_Mutation_p.A53V	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	295										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)															---	---	---	---
NSMCE2	286053	broad.mit.edu	37	8	126114681	126114681	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:126114681G>T	uc003yrw.2	+	3	337	c.109G>T	c.(109-111)GGT>TGT	p.G37C	NSMCE2_uc003yrv.2_Missense_Mutation_p.G37C	NM_173685	NP_775956	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog	37					DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding			breast(1)	1	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)															---	---	---	---
EFR3A	23167	broad.mit.edu	37	8	132952816	132952816	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:132952816T>C	uc003yte.2	+	2	282	c.81T>C	c.(79-81)GAT>GAC	p.D27D		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	EFR3 homolog A	27						plasma membrane	binding			ovary(3)|breast(1)|central_nervous_system(1)	5	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)															---	---	---	---
KHDRBS3	10656	broad.mit.edu	37	8	136569807	136569807	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:136569807T>C	uc003yuv.2	+	5	982	c.588T>C	c.(586-588)GGT>GGC	p.G196G	KHDRBS3_uc003yuw.2_Silent_p.G196G	NM_006558	NP_006549	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal	196					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			ovary(2)	2	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)															---	---	---	---
DENND3	22898	broad.mit.edu	37	8	142160929	142160929	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:142160929G>A	uc003yvy.2	+						DENND3_uc010mep.2_Intron	NM_014957	NP_055772			DENN/MADD domain containing 3											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)															---	---	---	---
DENND3	22898	broad.mit.edu	37	8	142199100	142199100	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:142199100G>A	uc003yvy.2	+	19	3138	c.2860G>A	c.(2860-2862)GCC>ACC	p.A954T	DENND3_uc010mep.2_Missense_Mutation_p.A915T|DENND3_uc003ywa.1_Missense_Mutation_p.A4T|DENND3_uc003ywb.2_Missense_Mutation_p.A4T	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	954										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)															---	---	---	---
GPR20	2843	broad.mit.edu	37	8	142367165	142367165	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:142367165T>C	uc003ywf.2	-	2	948	c.859A>G	c.(859-861)AGC>GGC	p.S287G		NM_005293	NP_005284	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	287	Helical; Name=7; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			upper_aerodigestive_tract(1)	1	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)															---	---	---	---
LY6D	8581	broad.mit.edu	37	8	143867043	143867043	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:143867043C>T	uc003yxf.1	-	2	189	c.113G>A	c.(112-114)TGC>TAC	p.C38Y		NM_003695	NP_003686	Q14210	LY6D_HUMAN	lymphocyte antigen 6 complex, locus D precursor	38	UPAR/Ly6.				cell adhesion	anchored to membrane|membrane fraction|plasma membrane	protein binding				0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)																	---	---	---	---
GPIHBP1	338328	broad.mit.edu	37	8	144296900	144296900	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144296900G>A	uc003yxu.1	+	3	269	c.194G>A	c.(193-195)TGC>TAC	p.C65Y		NM_178172	NP_835466	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high	65	UPAR/Ly6.				cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity				0	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)																	---	---	---	---
ZNF696	79943	broad.mit.edu	37	8	144378828	144378828	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144378828G>A	uc003yxy.3	+	3	1392	c.983G>A	c.(982-984)CGC>CAC	p.R328H		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	328	C2H2-type 8.				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)															---	---	---	---
EEF1D	1936	broad.mit.edu	37	8	144662275	144662275	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144662275G>A	uc011lki.1	-	7	983	c.714C>T	c.(712-714)TAC>TAT	p.Y238Y	NAPRT1_uc003yym.3_5'Flank|NAPRT1_uc003yyn.3_5'Flank|NAPRT1_uc011lkh.1_5'Flank|NAPRT1_uc003yyo.3_5'Flank|EEF1D_uc003yyp.1_Silent_p.Y580Y|EEF1D_uc003yyq.1_Silent_p.Y654Y|EEF1D_uc011lkj.1_Silent_p.Y603Y|EEF1D_uc003yyr.2_Silent_p.Y604Y|EEF1D_uc003yyt.2_Silent_p.Y604Y|EEF1D_uc011lkk.1_Silent_p.Y238Y|EEF1D_uc003yys.2_Silent_p.Y238Y|EEF1D_uc003yyv.2_Silent_p.Y214Y|EEF1D_uc003yyu.2_Silent_p.Y238Y|EEF1D_uc011lkl.1_Silent_p.Y219Y	NM_001130057	NP_001123529	P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta	238					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			ovary(1)|kidney(1)|skin(1)	3	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)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)															---	---	---	---
FAM83H	286077	broad.mit.edu	37	8	144808253	144808253	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144808253C>T	uc003yzk.2	-	5	3447	c.3378G>A	c.(3376-3378)ATG>ATA	p.M1126I	FAM83H_uc010mfk.1_RNA	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	1126					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	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;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)															---	---	---	---
SCRIB	23513	broad.mit.edu	37	8	144885649	144885649	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144885649C>T	uc003yzp.1	-	24	3514	c.3507G>A	c.(3505-3507)ACG>ACA	p.T1169T	SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Silent_p.T1169T	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	1169	PDZ 4.|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)															---	---	---	---
SCRIB	23513	broad.mit.edu	37	8	144890967	144890967	+	Missense_Mutation	SNP	C	A	A	rs147171813		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144890967C>A	uc003yzp.1	-	15	1934	c.1927G>T	c.(1927-1929)GGG>TGG	p.G643W	SCRIB_uc003yzo.1_Missense_Mutation_p.G643W	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	643	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				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)															---	---	---	---
SCRT1	83482	broad.mit.edu	37	8	145559733	145559733	+	Silent	SNP	C	T	T	rs142851592	byFrequency	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145559733C>T	uc003zbw.1	-	1	211	c.99G>A	c.(97-99)GCG>GCA	p.A33A		NM_031309	NP_112599	Q9BWW7	SCRT1_HUMAN	scratch	33						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)															---	---	---	---
SLC39A4	55630	broad.mit.edu	37	8	145638044	145638044	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145638044C>T	uc003zcq.2	-	12	1922	c.1822G>A	c.(1822-1824)GCG>ACG	p.A608T	SLC39A4_uc003zcm.1_3'UTR|SLC39A4_uc003zcn.2_Missense_Mutation_p.A110T|SLC39A4_uc003zco.2_Missense_Mutation_p.A332T|SLC39A4_uc003zcp.2_Missense_Mutation_p.A583T	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter),	608	Cytoplasmic (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)															---	---	---	---
SLC39A4	55630	broad.mit.edu	37	8	145640473	145640473	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145640473C>T	uc003zcq.2	-	4	789	c.689G>A	c.(688-690)CGC>CAC	p.R230H	SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.2_5'Flank|SLC39A4_uc003zco.2_5'UTR|SLC39A4_uc003zcp.2_Missense_Mutation_p.R205H	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter),	230	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)															---	---	---	---
CBWD1	55871	broad.mit.edu	37	9	164038	164038	+	Splice_Site	SNP	C	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									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)														---	---	---	---
DOCK8	81704	broad.mit.edu	37	9	429720	429720	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:429720G>A	uc003zgf.2	+	36	4604	c.4492G>A	c.(4492-4494)GAA>AAA	p.E1498K	DOCK8_uc010mgu.2_Missense_Mutation_p.E800K|DOCK8_uc010mgv.2_Missense_Mutation_p.E1398K|DOCK8_uc003zgk.2_Missense_Mutation_p.E956K	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1498	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)														---	---	---	---
KIAA0020	9933	broad.mit.edu	37	9	2811383	2811383	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2811383T>C	uc003zhp.1	-	15	1709	c.1613A>G	c.(1612-1614)CAT>CGT	p.H538R	KIAA0020_uc010mhc.1_Missense_Mutation_p.H537R|KIAA0020_uc003zhq.1_Missense_Mutation_p.H537R	NM_014878	NP_055693	Q15397	K0020_HUMAN	KIAA0020 protein	538						endoplasmic reticulum|nucleolus	RNA binding			ovary(1)	1				GBM - Glioblastoma multiforme(50;0.0319)														---	---	---	---
ZDHHC21	340481	broad.mit.edu	37	9	14674235	14674235	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:14674235A>T	uc003zli.2	-	4	574	c.104T>A	c.(103-105)GTC>GAC	p.V35D	ZDHHC21_uc003zlg.1_Intron	NM_178566	NP_848661	Q8IVQ6	ZDH21_HUMAN	zinc finger, DHHC-type containing 21	35	Helical; (Potential).				nitric oxide metabolic process|regulation of nitric-oxide synthase activity	Golgi membrane|integral to membrane	palmitoyltransferase activity|zinc ion binding				0				GBM - Glioblastoma multiforme(50;4.31e-06)														---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14859279	14859279	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:14859279G>A	uc003zlm.2	-	4	1123	c.533C>T	c.(532-534)GCG>GTG	p.A178V	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	178					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	15214143	15214143	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:15214143C>T	uc003zlr.1	-	4	399	c.278G>A	c.(277-279)CGC>CAC	p.R93H	TTC39B_uc003zlq.1_Missense_Mutation_p.R62H|TTC39B_uc011lmp.1_5'UTR|TTC39B_uc010mie.1_Missense_Mutation_p.R93H|TTC39B_uc011lmq.1_Missense_Mutation_p.R93H|TTC39B_uc011lmr.1_Intron|TTC39B_uc010mif.1_Missense_Mutation_p.R93H|TTC39B_uc003zls.1_5'UTR|TTC39B_uc010mig.1_Missense_Mutation_p.R62H|TTC39B_uc011lms.1_RNA	NM_152574	NP_689787	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	93							binding			ovary(1)	1																		---	---	---	---
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:20414340G>A	uc003zoe.2	-	5	763	c.504C>T	c.(502-504)AGC>AGT	p.S168S	MLLT3_uc011lne.1_Silent_p.S136S|MLLT3_uc011lnf.1_Silent_p.S165S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.A130V	NM_004529	NP_004520	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)				T	MLL	ALL								---	---	---	---
MLLT3	4300	broad.mit.edu	37	9	20622265	20622265	+	5'UTR	SNP	C	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:20622265C>G	uc003zoe.2	-	1					MLLT3_uc011lne.1_5'Flank|MLLT3_uc011lnf.1_5'Flank|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_5'Flank	NM_004529	NP_004520			myeloid/lymphoid or mixed-lineage leukemia						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)				T	MLL	ALL								---	---	---	---
TEK	7010	broad.mit.edu	37	9	27204916	27204916	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:27204916G>A	uc003zqi.3	+	14	2659	c.2217G>A	c.(2215-2217)GCG>GCA	p.A739A	TEK_uc011lno.1_Silent_p.A696A|TEK_uc011lnp.1_Silent_p.A592A|TEK_uc003zqj.1_Silent_p.A673A	NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	739	Extracellular (Potential).				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)														---	---	---	---
IFNK	56832	broad.mit.edu	37	9	27524595	27524595	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:27524595C>A	uc003zqp.2	+	1	284	c.261C>A	c.(259-261)TTC>TTA	p.F87L	MOBKL2B_uc003zqn.2_Intron	NM_020124	NP_064509	Q9P0W0	IFNK_HUMAN	interferon kappa precursor	87					cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus	extracellular space	cytokine activity|interferon-alpha/beta receptor binding				0		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)														---	---	---	---
TOPORS	10210	broad.mit.edu	37	9	32550787	32550787	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:32550787C>T	uc003zrb.2	-	2	350	c.183G>A	c.(181-183)GCG>GCA	p.A61A	TOPORS_uc003zrc.2_Intron|uc003zrd.2_5'Flank	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	61	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)														---	---	---	---
UNC13B	10497	broad.mit.edu	37	9	35396854	35396854	+	Missense_Mutation	SNP	G	A	A	rs140663072		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35396854G>A	uc003zwq.2	+	27	3497	c.3205G>A	c.(3205-3207)GTG>ATG	p.V1069M	UNC13B_uc003zwr.2_Missense_Mutation_p.V1069M	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	1069	MHD1.				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)															---	---	---	---
OR13J1	392309	broad.mit.edu	37	9	35869700	35869700	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35869700C>A	uc011lph.1	-	1	699	c.699G>T	c.(697-699)AGG>AGT	p.R233S		NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J,	233	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
FRMPD1	22844	broad.mit.edu	37	9	37740128	37740128	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:37740128G>A	uc004aag.1	+	15	1647	c.1603G>A	c.(1603-1605)GTA>ATA	p.V535I	FRMPD1_uc004aah.1_Missense_Mutation_p.V535I|FRMPD1_uc011lqm.1_Missense_Mutation_p.V357I|FRMPD1_uc011lqn.1_Missense_Mutation_p.V404I	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	535						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)														---	---	---	---
Unknown	0	broad.mit.edu	37	9	69440233	69440233	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:69440233A>T	uc010mnx.1	+	3	486	c.317A>T	c.(316-318)AAA>ATA	p.K106I		NM_001098806	NP_001092276			coiled-coil domain containing 29																														---	---	---	---
Unknown	0	broad.mit.edu	37	9	69440243	69440243	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:69440243A>C	uc010mnx.1	+	3	496	c.327A>C	c.(325-327)GAA>GAC	p.E109D		NM_001098806	NP_001092276			coiled-coil domain containing 29																														---	---	---	---
APBA1	320	broad.mit.edu	37	9	72046264	72046264	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:72046264C>A	uc004ahh.2	-	13	2769	c.2493G>T	c.(2491-2493)CAG>CAT	p.Q831H		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	831					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1																		---	---	---	---
TMEM2	23670	broad.mit.edu	37	9	74360375	74360375	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:74360375G>A	uc011lsa.1	-	4	1133	c.593C>T	c.(592-594)TCC>TTC	p.S198F	TMEM2_uc010mos.2_Missense_Mutation_p.S198F|TMEM2_uc011lsb.1_RNA	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	198	G8.					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)														---	---	---	---
RORB	6096	broad.mit.edu	37	9	77275630	77275630	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:77275630A>C	uc004aji.2	+	5	817	c.768A>C	c.(766-768)GAA>GAC	p.E256D	RORB_uc004ajh.2_Missense_Mutation_p.E245D	NM_006914	NP_008845	Q92753	RORB_HUMAN	RAR-related orphan receptor B	256	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	77415342	77415342	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:77415342C>T	uc004ajl.1	-	17	2304	c.2066G>A	c.(2065-2067)CGC>CAC	p.R689H	TRPM6_uc004ajk.1_Missense_Mutation_p.R684H|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Missense_Mutation_p.R67H	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	689	Cytoplasmic (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																		---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79469112	79469112	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79469112G>A	uc010mpk.2	-	2	173	c.49C>T	c.(49-51)CGC>TGC	p.R17C	PRUNE2_uc004akn.2_Missense_Mutation_p.R17C	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	17					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0																		---	---	---	---
FLJ46321	389763	broad.mit.edu	37	9	84608351	84608351	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:84608351T>G	uc004amn.2	+	4	3013	c.2966T>G	c.(2965-2967)GTC>GGC	p.V989G		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	989						integral to membrane					0																		---	---	---	---
NFIL3	4783	broad.mit.edu	37	9	94172784	94172784	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:94172784T>C	uc004arh.2	-	2	628	c.233A>G	c.(232-234)GAA>GGA	p.E78G		NM_005384	NP_005375	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	78	Basic motif.				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																		---	---	---	---
ZNF169	169841	broad.mit.edu	37	9	97062645	97062645	+	Missense_Mutation	SNP	C	T	T	rs10993152		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:97062645C>T	uc004aum.1	+	5	910	c.805C>T	c.(805-807)CGT>TGT	p.R269C		NM_194320	NP_919301	Q14929	ZN169_HUMAN	zinc finger protein 169	269	C2H2-type 2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)																---	---	---	---
FBP2	8789	broad.mit.edu	37	9	97349699	97349699	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:97349699C>T	uc004auv.2	-	2	290	c.223G>A	c.(223-225)GAT>AAT	p.D75N		NM_003837	NP_003828	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	75					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding				0		Acute lymphoblastic leukemia(62;0.136)																---	---	---	---
C9orf102	375748	broad.mit.edu	37	9	98643499	98643499	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:98643499G>A	uc004avt.3	+	2	816	c.428G>A	c.(427-429)CGG>CAG	p.R143Q	C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_5'UTR|C9orf102_uc010mry.1_5'UTR|C9orf102_uc010mrz.2_5'UTR	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	143					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)																---	---	---	---
CYLC2	1539	broad.mit.edu	37	9	105757654	105757654	+	5'UTR	SNP	G	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:105757654G>C	uc004bbs.2	+	1						NM_001340	NP_001331			cylicin 2						cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)																---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107576391	107576391	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:107576391T>C	uc004bcl.2	-							NM_005502	NP_005493			ATP-binding cassette, sub-family A member 1						Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)													---	---	---	---
SLC44A1	23446	broad.mit.edu	37	9	108136891	108136891	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:108136891G>A	uc004bcn.2	+	13	1728	c.1507G>A	c.(1507-1509)GCC>ACC	p.A503T	SLC44A1_uc010mtk.1_Missense_Mutation_p.A503T|SLC44A1_uc004bco.1_Missense_Mutation_p.A295T	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN	CDW92 antigen	503	Mitochondrial intermembrane (Potential).					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(3)|ovary(1)	4					Choline(DB00122)													---	---	---	---
EPB41L4B	54566	broad.mit.edu	37	9	111956681	111956681	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:111956681C>T	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																		---	---	---	---
MUSK	4593	broad.mit.edu	37	9	113445033	113445033	+	Silent	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:113445033C>A	uc004bey.2	+	2	257	c.159C>A	c.(157-159)TCC>TCA	p.S53S	MUSK_uc004bex.2_Silent_p.S53S	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	53	Ig-like 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6																		---	---	---	---
C9orf84	158401	broad.mit.edu	37	9	114484788	114484788	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:114484788G>T	uc004bfr.2	-	13	1975	c.1840C>A	c.(1840-1842)CTC>ATC	p.L614I	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Missense_Mutation_p.L575I|C9orf84_uc010mug.2_Missense_Mutation_p.L560I	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	614										ovary(2)	2																		---	---	---	---
COL27A1	85301	broad.mit.edu	37	9	117044798	117044798	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:117044798C>T	uc011lxl.1	+	39	3833	c.3833C>T	c.(3832-3834)CCT>CTT	p.P1278L	COL27A1_uc004bii.2_RNA	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	1278	Pro-rich.|Collagen-like 11.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4																		---	---	---	---
TNC	3371	broad.mit.edu	37	9	117853180	117853180	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:117853180T>C	uc004bjj.3	-	2	480	c.118A>G	c.(118-120)ACC>GCC	p.T40A	TNC_uc010mvf.2_Missense_Mutation_p.T40A	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	40					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7																		---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	120176829	120176829	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:120176829G>A	uc004bjs.1	-	1	489	c.388C>T	c.(388-390)CGC>TGC	p.R130C	ASTN2_uc004bjr.1_Missense_Mutation_p.R130C|ASTN2_uc004bjt.1_Missense_Mutation_p.R130C	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	130	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9																		---	---	---	---
FBXW2	26190	broad.mit.edu	37	9	123550083	123550083	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:123550083A>G	uc004bkl.1	-	3	615	c.454T>C	c.(454-456)TAT>CAT	p.Y152H	FBXW2_uc011lyc.1_Missense_Mutation_p.Y23H|FBXW2_uc004bkn.2_Missense_Mutation_p.Y184H|FBXW2_uc004bkm.1_Missense_Mutation_p.Y152H|FBXW2_uc010mvj.1_Missense_Mutation_p.Y152H	NM_012164	NP_036296	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	152	WD 1.				proteolysis		protein binding|ubiquitin-protein ligase activity			urinary_tract(1)|ovary(1)|pancreas(1)|skin(1)	4																		---	---	---	---
NR5A1	2516	broad.mit.edu	37	9	127262986	127262986	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:127262986C>T	uc004boo.1	-	4	440	c.253G>A	c.(253-255)GCT>ACT	p.A85T		NM_004959	NP_004950	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	85	Nuclear receptor.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding				0																		---	---	---	---
TBC1D13	54662	broad.mit.edu	37	9	131559481	131559481	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131559481T>G	uc010myj.2	+	7	654	c.531T>G	c.(529-531)AGT>AGG	p.S177R	TBC1D13_uc010myk.2_Missense_Mutation_p.S177R|TBC1D13_uc010myl.2_5'UTR	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	177	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0																		---	---	---	---
CRAT	1384	broad.mit.edu	37	9	131857859	131857859	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131857859G>A	uc004bxh.2	-	14	1980	c.1698C>T	c.(1696-1698)TTC>TTT	p.F566F	CRAT_uc004bxg.2_Silent_p.F545F|CRAT_uc004bxk.3_Silent_p.F545F	NM_000755	NP_000746	P43155	CACP_HUMAN	carnitine acetyltransferase precursor	566				F->A: Increases the KM for carnitine 18- fold and reduces enzyme activity 100- fold.|F->Y: No effect.	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)													---	---	---	---
ASS1	445	broad.mit.edu	37	9	133355136	133355136	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:133355136G>A	uc004bzm.2	+	11	1078	c.722G>A	c.(721-723)GGC>GAC	p.G241D	ASS1_uc004bzn.2_Missense_Mutation_p.G241D|ASS1_uc010mza.2_Missense_Mutation_p.G317D|ASS1_uc004bzo.2_Missense_Mutation_p.G222D|ASS1_uc010mzb.2_Missense_Mutation_p.G279D|ASS1_uc004bzp.2_Missense_Mutation_p.G241D|ASS1_uc010mzc.2_Missense_Mutation_p.G241D	NM_000050	NP_000041	P00966	ASSY_HUMAN	argininosuccinate synthetase 1	241					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)													---	---	---	---
ABL1	25	broad.mit.edu	37	9	133729634	133729634	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:133729634T>C	uc004bzw.2	+						ABL1_uc004bzv.2_Intron	NM_005157	NP_005148			c-abl oncogene 1, receptor tyrosine kinase						actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)			T|Mis	BCR|ETV6|NUP214	CML|ALL|T-ALL								---	---	---	---
BAT2L1	84726	broad.mit.edu	37	9	134354725	134354725	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:134354725C>T	uc004can.3	+	18	4900	c.4845C>T	c.(4843-4845)GAC>GAT	p.D1615D	BAT2L1_uc004cao.3_Silent_p.D973D	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	1615							protein binding				0																		---	---	---	---
NTNG2	84628	broad.mit.edu	37	9	135073569	135073569	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135073569G>A	uc004cbh.2	+	3	1206	c.430G>A	c.(430-432)GGC>AGC	p.G144S		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	144	Laminin N-terminal.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)														---	---	---	---
BARHL1	56751	broad.mit.edu	37	9	135458245	135458245	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135458245G>A	uc004cbp.1	+	1	253	c.61G>A	c.(61-63)GCC>ACC	p.A21T		NM_020064	NP_064448	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	21						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)														---	---	---	---
RALGDS	5900	broad.mit.edu	37	9	136031293	136031293	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136031293C>T	uc011mcw.1	-	5	537	c.256G>A	c.(256-258)GCA>ACA	p.A86T	GBGT1_uc004ccx.2_Silent_p.E26E|GBGT1_uc010nab.2_Silent_p.E73E|GBGT1_uc011mcx.1_Silent_p.E56E|GBGT1_uc004ccw.2_Silent_p.E73E|GBGT1_uc010nac.1_5'UTR|GBGT1_uc004ccy.1_Silent_p.E73E	NM_001042368	NP_001035827	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	Error:Variant_position_missing_in_Q12967_after_alignment					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|lung(1)|ovary(1)	3				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)				T	CIITA	PMBL|Hodgkin Lymphona|								---	---	---	---
DBH	1621	broad.mit.edu	37	9	136501831	136501831	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136501831C>T	uc004cel.2	+	1	347	c.338C>T	c.(337-339)GCG>GTG	p.A113V		NM_000787	NP_000778	P09172	DOPO_HUMAN	dopamine beta hydroxylase precursor	113	DOMON.|Intragranular (Potential).				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)													---	---	---	---
BRD3	8019	broad.mit.edu	37	9	136901431	136901431	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136901431G>A	uc004cew.2	-	10	1847	c.1659C>T	c.(1657-1659)GGC>GGT	p.G553G	BRD3_uc004cex.2_3'UTR	NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	553	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								---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137642653	137642653	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:137642653C>T	uc004cfe.2	+	13	1969	c.1587C>T	c.(1585-1587)GGC>GGT	p.G529G		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	529	Interrupted collagenous 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)														---	---	---	---
FCN2	2220	broad.mit.edu	37	9	137777610	137777610	+	Intron	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:137777610A>G	uc004cfg.1	+						FCN2_uc004cfh.1_Intron	NM_004108	NP_004099			ficolin 2 isoform a precursor						complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			large_intestine(1)	1		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)														---	---	---	---
FAM69B	138311	broad.mit.edu	37	9	139616671	139616671	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139616671G>A	uc004cik.2	+	4	495	c.401G>A	c.(400-402)CGG>CAG	p.R134Q	FAM69B_uc004cil.2_Missense_Mutation_p.R47Q|SNHG7_uc004cim.2_RNA	NM_152421	NP_689634	Q5VUD6	FA69B_HUMAN	hypothetical protein LOC138311	134	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)														---	---	---	---
LCN6	158062	broad.mit.edu	37	9	139641886	139641886	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139641886A>C	uc004ciy.2	-	2	265	c.220T>G	c.(220-222)TCT>GCT	p.S74A	LCN10_uc004ciw.2_RNA|uc004ciz.1_RNA	NM_198946	NP_945184	P62502	LCN6_HUMAN	lipocalin 6 precursor	74					single fertilization	extracellular region	binding				0	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)														---	---	---	---
C9orf86	55684	broad.mit.edu	37	9	139732066	139732066	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139732066A>G	uc004cji.1	+	9	1346	c.1078A>G	c.(1078-1080)AGG>GGG	p.R360G	C9orf86_uc004cjj.1_Missense_Mutation_p.R361G|C9orf86_uc004cjk.1_RNA|C9orf86_uc010nbr.1_Intron|C9orf86_uc004cjl.1_RNA|C9orf86_uc010nbs.1_Missense_Mutation_p.R245G|C9orf86_uc004cjn.1_Missense_Mutation_p.R154G	NM_024718	NP_078994	Q3YEC7	PARF_HUMAN	Rab-like GTP-binding protein 1 isoform 1	360	Pro-rich.				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding				0	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)														---	---	---	---
MAMDC4	158056	broad.mit.edu	37	9	139749902	139749902	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139749902G>A	uc004cjs.2	+	12	1352	c.1302G>A	c.(1300-1302)CCG>CCA	p.P434P	MAMDC4_uc011mej.1_Intron	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	434	Extracellular (Potential).				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)														---	---	---	---
ABCA2	20	broad.mit.edu	37	9	139903925	139903925	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139903925T>C	uc011mem.1	-						ABCA2_uc011mel.1_Intron|ABCA2_uc004ckl.1_Intron|ABCA2_uc004ckm.1_Intron	NM_001606	NP_001597			ATP-binding cassette, sub-family A, member 2						cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)														---	---	---	---
SLC34A3	142680	broad.mit.edu	37	9	140130393	140130393	+	Intron	SNP	C	A	A	rs71387810		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140130393C>A	uc004cmf.1	+						SLC34A3_uc011met.1_Intron	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)														---	---	---	---
CACNA1B	774	broad.mit.edu	37	9	140777297	140777297	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140777297C>T	uc004cog.2	+	3	637	c.492C>T	c.(490-492)AAC>AAT	p.N164N	uc004cof.1_RNA	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	164	Helical; Name=S3 of repeat I; (Potential).|I.				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)													---	---	---	---
LARP4B	23185	broad.mit.edu	37	10	909765	909765	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:909765C>T	uc001ifs.1	-	4	389	c.348G>A	c.(346-348)CCG>CCA	p.P116P		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	116							nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
AKR1C3	8644	broad.mit.edu	37	10	5141002	5141002	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5141002G>T	uc001ihr.2	+	4	561	c.378G>T	c.(376-378)GAG>GAT	p.E126D	AKR1C3_uc010qap.1_Missense_Mutation_p.E103D|AKR1C3_uc001ihu.2_Missense_Mutation_p.E126D	NM_003739	NP_003730	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	126					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			skin(1)	1					Dimethyl sulfoxide(DB01093)|NADH(DB00157)													---	---	---	---
C10orf18	54906	broad.mit.edu	37	10	5800957	5800957	+	Splice_Site	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5800957T>C	uc001iij.2	+	18	7617	c.6992_splice	c.e18+2	p.R2331_splice	C10orf18_uc001iik.2_Splice_Site_p.R1175_splice	NM_017782	NP_060252			hypothetical protein LOC54906											ovary(1)|central_nervous_system(1)	2																		---	---	---	---
IL15RA	3601	broad.mit.edu	37	10	5995102	5995102	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5995102T>G	uc001iiv.2	-	7	842	c.760A>C	c.(760-762)AGC>CGC	p.S254R	IL15RA_uc001iiu.2_Intron|IL15RA_uc010qau.1_Missense_Mutation_p.S221R|IL15RA_uc001iiw.2_Missense_Mutation_p.S218R|IL15RA_uc001iix.2_Missense_Mutation_p.S185R|IL15RA_uc001iiy.2_Missense_Mutation_p.S102R	NM_002189	NP_002180	Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha isoform 1	254	Cytoplasmic (Potential).				cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity				0																		---	---	---	---
PTER	9317	broad.mit.edu	37	10	16526378	16526378	+	5'UTR	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:16526378T>C	uc001iog.1	+	3					PTER_uc001ioh.1_5'UTR|PTER_uc001ioi.1_5'UTR|PTER_uc009xjp.1_5'UTR	NM_030664	NP_109589			phosphotriesterase related						catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			ovary(2)	2																		---	---	---	---
DNAJC1	64215	broad.mit.edu	37	10	22048374	22048374	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:22048374G>A	uc001irc.2	-	11	1608	c.1321C>T	c.(1321-1323)CGG>TGG	p.R441W	DNAJC1_uc001ird.2_Missense_Mutation_p.R327W	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	441	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)																---	---	---	---
ANKRD26	22852	broad.mit.edu	37	10	27324123	27324123	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27324123C>T	uc001ith.2	-	24	3425	c.3253G>A	c.(3253-3255)GCC>ACC	p.A1085T	ANKRD26_uc001itg.2_Missense_Mutation_p.A772T|ANKRD26_uc009xku.1_Missense_Mutation_p.A1086T	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1085	Potential.					centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4																		---	---	---	---
MASTL	84930	broad.mit.edu	37	10	27454412	27454412	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27454412C>A	uc001itm.2	+	6	1394	c.755C>A	c.(754-756)CCT>CAT	p.P252H	MASTL_uc001itl.2_Missense_Mutation_p.P252H|MASTL_uc009xkw.1_Missense_Mutation_p.P252H|MASTL_uc009xkx.1_RNA	NM_032844	NP_116233	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine	252	Protein kinase.				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																		---	---	---	---
ZNF438	220929	broad.mit.edu	37	10	31134032	31134032	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:31134032G>A	uc010qdz.1	-	8	2780	c.2345C>T	c.(2344-2346)GCA>GTA	p.A782V	ZNF438_uc001ivn.2_Missense_Mutation_p.A733V|ZNF438_uc010qdy.1_Missense_Mutation_p.A772V|ZNF438_uc001ivo.3_Missense_Mutation_p.A346V|ZNF438_uc009xlg.2_Missense_Mutation_p.A782V|ZNF438_uc001ivp.3_Missense_Mutation_p.A772V|ZNF438_uc010qea.1_Missense_Mutation_p.A782V|ZNF438_uc010qeb.1_Missense_Mutation_p.A782V	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	782	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)																---	---	---	---
CUL2	8453	broad.mit.edu	37	10	35317808	35317808	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:35317808G>A	uc001ixv.2	-	16	1757	c.1547C>T	c.(1546-1548)GCG>GTG	p.A516V	CUL2_uc009xma.2_Missense_Mutation_p.A385V|CUL2_uc010qer.1_Missense_Mutation_p.A535V|CUL2_uc001ixw.2_Missense_Mutation_p.A516V|CUL2_uc010qes.1_Missense_Mutation_p.A453V	NM_003591	NP_003582	Q13617	CUL2_HUMAN	cullin 2	516					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																		---	---	---	---
FRMPD2	143162	broad.mit.edu	37	10	49446167	49446167	+	Splice_Site	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:49446167C>T	uc001jgi.2	-	8	896	c.789_splice	c.e8-1	p.R263_splice	FRMPD2_uc001jgh.2_Splice_Site_p.R232_splice|FRMPD2_uc001jgj.2_Splice_Site_p.R241_splice	NM_001018071	NP_001018081			FERM and PDZ domain containing 2 isoform 3						tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)														---	---	---	---
PRKG1	5592	broad.mit.edu	37	10	53227559	53227559	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:53227559T>C	uc001jjm.2	+	3	704	c.510T>C	c.(508-510)GCT>GCC	p.A170A	PRKG1_uc001jjn.2_Silent_p.A185A|PRKG1_uc001jjo.2_Silent_p.A185A|PRKG1_uc010qhp.1_Silent_p.A170A	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I isoform	170	cGMP 1.				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)														---	---	---	---
DKK1	22943	broad.mit.edu	37	10	54074759	54074759	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:54074759G>A	uc001jjr.2	+	2	474	c.320G>A	c.(319-321)GGC>GAC	p.G107D	uc001jjq.1_5'Flank|uc009xox.1_5'Flank	NM_012242	NP_036374	O94907	DKK1_HUMAN	dickkopf homolog 1 precursor	107	DKK-type Cys-1.				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3																OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
BICC1	80114	broad.mit.edu	37	10	60553279	60553279	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:60553279G>T	uc001jki.1	+	9	1083	c.1083G>T	c.(1081-1083)AAG>AAT	p.K361N	BICC1_uc001jkj.1_Missense_Mutation_p.K2N	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	361					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---
ANK3	288	broad.mit.edu	37	10	61815606	61815606	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:61815606T>C	uc001jky.2	-	42	13067	c.12875A>G	c.(12874-12876)CAT>CGT	p.H4292R	ANK3_uc001jkw.2_Missense_Mutation_p.H916R|ANK3_uc009xpa.2_Missense_Mutation_p.H916R|ANK3_uc001jkx.2_Missense_Mutation_p.H960R|ANK3_uc010qih.1_Missense_Mutation_p.H1783R|ANK3_uc001jkz.3_Missense_Mutation_p.H1776R|ANK3_uc001jkv.2_Missense_Mutation_p.H315R	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	4292					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	62023723	62023723	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:62023723G>A	uc001jky.2	-	6	761	c.569C>T	c.(568-570)TCG>TTG	p.S190L	ANK3_uc010qih.1_Missense_Mutation_p.S173L|ANK3_uc001jkz.3_Missense_Mutation_p.S184L|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	190	ANK 4.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19																		---	---	---	---
TMEM26	219623	broad.mit.edu	37	10	63170171	63170171	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:63170171T>C	uc001jlo.2	-	6	1385	c.1016A>G	c.(1015-1017)CAG>CGG	p.Q339R	TMEM26_uc010qij.1_RNA|TMEM26_uc001jlp.1_RNA	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	339						integral to membrane					0	Prostate(12;0.0112)																	---	---	---	---
ZNF365	22891	broad.mit.edu	37	10	64136602	64136602	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:64136602C>T	uc001jmc.2	+	2	965	c.650C>T	c.(649-651)GCC>GTC	p.A217V	ZNF365_uc001jly.3_Missense_Mutation_p.A232V|ZNF365_uc001jmb.3_Missense_Mutation_p.A217V|ZNF365_uc001jlz.3_Missense_Mutation_p.A217V|ZNF365_uc001jma.3_Intron	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform C	Error:Variant_position_missing_in_Q70YC4_after_alignment										ovary(1)|skin(1)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)																	---	---	---	---
PBLD	64081	broad.mit.edu	37	10	70056045	70056045	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70056045T>C	uc001jns.1	-	4	464	c.261A>G	c.(259-261)GCA>GCG	p.A87A	PBLD_uc001jnr.1_Silent_p.A54A|PBLD_uc001jnt.1_Silent_p.A87A|PBLD_uc001jnu.1_Silent_p.A87A|PBLD_uc001jnv.1_Intron	NM_022129	NP_071412	P30039	PBLD_HUMAN	MAWD binding protein isoform a	87					biosynthetic process		isomerase activity			skin(2)|ovary(1)	3																		---	---	---	---
TSPAN15	23555	broad.mit.edu	37	10	71243561	71243561	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:71243561G>A	uc001jpo.1	+	2	336	c.211G>A	c.(211-213)GTC>ATC	p.V71I		NM_012339	NP_036471	O95858	TSN15_HUMAN	transmembrane 4 superfamily member 15	71	Helical; (Potential).					integral to plasma membrane|membrane fraction					0																		---	---	---	---
COL13A1	1305	broad.mit.edu	37	10	71631924	71631924	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:71631924T>C	uc001jpr.1	+						COL13A1_uc001jqj.1_Intron|COL13A1_uc001jps.1_Intron|COL13A1_uc001jpt.1_Intron|COL13A1_uc001jpu.1_Intron|COL13A1_uc001jpv.1_Intron|COL13A1_uc001jpx.1_Intron|COL13A1_uc001jpw.1_Intron|COL13A1_uc001jpy.1_Intron|COL13A1_uc001jpz.1_Intron|COL13A1_uc001jqa.1_Intron|COL13A1_uc001jqc.1_Intron|COL13A1_uc001jqb.1_Intron|COL13A1_uc001jql.2_Intron|COL13A1_uc001jqd.1_Intron|COL13A1_uc001jqe.1_Intron|COL13A1_uc001jqf.1_Intron|COL13A1_uc001jqg.1_Intron|COL13A1_uc001jqh.1_Intron|COL13A1_uc001jqi.1_Intron|COL13A1_uc010qjf.1_Intron|COL13A1_uc001jqk.1_Intron	NM_005203	NP_005194			alpha 1 type XIII collagen isoform 1						cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			ovary(1)	1					Atorvastatin(DB01076)|Simvastatin(DB00641)													---	---	---	---
TYSND1	219743	broad.mit.edu	37	10	71902509	71902509	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:71902509C>T	uc001jqr.2	-	3	1552	c.1398G>A	c.(1396-1398)ACG>ACA	p.T466T	TYSND1_uc001jqq.2_RNA|TYSND1_uc001jqs.2_Intron|TYSND1_uc001jqt.2_Intron	NM_173555	NP_775826	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1 isoform a	466	Serine protease.				proteolysis	peroxisome	serine-type endopeptidase activity			large_intestine(1)	1																		---	---	---	---
SLC29A3	55315	broad.mit.edu	37	10	73116008	73116008	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:73116008T>C	uc001jrr.3	+						SLC29A3_uc001jrs.3_Splice_Site|SLC29A3_uc010qjq.1_Intron|SLC29A3_uc001jrt.3_Intron|SLC29A3_uc001jru.3_Intron	NM_018344	NP_060814			solute carrier family 29 (nucleoside						nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity				0																		---	---	---	---
DUSP13	51207	broad.mit.edu	37	10	76867771	76867771	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:76867771G>T	uc001jws.2	-	2	401	c.346C>A	c.(346-348)CGT>AGT	p.R116S	DUSP13_uc001jwu.2_Intron|DUSP13_uc001jww.2_Intron|DUSP13_uc009xrs.2_5'UTR|DUSP13_uc001jwt.2_5'UTR|DUSP13_uc001jwv.2_Intron	NM_001007271	NP_001007272	Q6B8I1	MDSP_HUMAN	muscle-restricted dual specificity phosphatase	116	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)																	---	---	---	---
POLR3A	11128	broad.mit.edu	37	10	79741970	79741970	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:79741970G>A	uc001jzn.2	-	28	3795	c.3701C>T	c.(3700-3702)GCA>GTA	p.A1234V		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	1234					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)															---	---	---	---
NRG3	10718	broad.mit.edu	37	10	84744984	84744984	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:84744984A>G	uc001kco.2	+	9	1741	c.1714A>G	c.(1714-1716)AGT>GGT	p.S572G	NRG3_uc010qlz.1_Missense_Mutation_p.S571G|NRG3_uc001kcp.2_Missense_Mutation_p.S375G|NRG3_uc001kcq.2_Missense_Mutation_p.S222G|NRG3_uc001kcr.2_Missense_Mutation_p.S246G	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	596	Cytoplasmic (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)														---	---	---	---
WAPAL	23063	broad.mit.edu	37	10	88259864	88259864	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:88259864C>T	uc001kdo.2	-	3	1578	c.1136G>A	c.(1135-1137)CGC>CAC	p.R379H	WAPAL_uc001kdn.2_Missense_Mutation_p.R422H|WAPAL_uc009xsw.2_Missense_Mutation_p.R379H	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog	379	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			ovary(1)	1																		---	---	---	---
CPEB3	22849	broad.mit.edu	37	10	93999718	93999718	+	Silent	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:93999718G>T	uc001khw.1	-	2	563	c.390C>A	c.(388-390)GTC>GTA	p.V130V	CPEB3_uc001khu.1_Silent_p.V130V|CPEB3_uc001khv.1_Silent_p.V130V|CPEB3_uc010qnn.1_Silent_p.V130V	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding	130	Pro-rich.						nucleotide binding|RNA binding				0		Colorectal(252;0.0869)																---	---	---	---
TMEM20	159371	broad.mit.edu	37	10	95660776	95660776	+	Silent	SNP	C	T	T	rs148915546		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:95660776C>T	uc001kjg.1	+	3	688	c.627C>T	c.(625-627)TCC>TCT	p.S209S	TMEM20_uc001kji.2_Intron|TMEM20_uc001kjf.1_Silent_p.S208S|TMEM20_uc001kjh.2_Intron|TMEM20_uc010qnw.1_Silent_p.S192S|TMEM20_uc001kjj.2_Intron	NM_001134658	NP_001128130	Q2M3R5	TMM20_HUMAN	transmembrane protein 20 isoform 1	209						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)														---	---	---	---
SORBS1	10580	broad.mit.edu	37	10	97101123	97101123	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:97101123T>C	uc001kkp.2	-	26	2634	c.2589A>G	c.(2587-2589)CCA>CCG	p.P863P	SORBS1_uc001kkk.2_Silent_p.P357P|SORBS1_uc001kkl.2_Silent_p.P465P|SORBS1_uc001kkn.2_Silent_p.P628P|SORBS1_uc001kkm.2_Silent_p.P663P|SORBS1_uc001kko.2_Silent_p.P885P|SORBS1_uc001kkq.2_Silent_p.P714P|SORBS1_uc001kkr.2_Silent_p.P569P|SORBS1_uc001kks.2_Silent_p.P513P|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Silent_p.P610P|SORBS1_uc001kkv.2_Silent_p.P645P|SORBS1_uc001kkw.2_Silent_p.P817P|SORBS1_uc010qoe.1_Silent_p.P578P	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	863					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)														---	---	---	---
TM9SF3	56889	broad.mit.edu	37	10	98287262	98287262	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:98287262G>A	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)														---	---	---	---
PI4K2A	55361	broad.mit.edu	37	10	99361742	99361742	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99361742G>A	uc010qoy.1	+	2	699	c.340G>A	c.(340-342)GCT>ACT	p.A114T	DHDPSL_uc001kny.2_Missense_Mutation_p.A277T|DHDPSL_uc001knz.2_Missense_Mutation_p.A114T	NM_018425	NP_060895	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	Error:Variant_position_missing_in_Q9BTU6_after_alignment					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)														---	---	---	---
HPS1	3257	broad.mit.edu	37	10	100185471	100185471	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:100185471T>A	uc010qpf.1	-	13	1408	c.1162A>T	c.(1162-1164)AGC>TGC	p.S388C	HPS1_uc001kpi.1_Missense_Mutation_p.S388C|HPS1_uc001kpj.1_Missense_Mutation_p.S295C|HPS1_uc001kpk.1_Missense_Mutation_p.S212C|HPS1_uc010qpg.1_Intron|HPS1_uc009xwb.2_RNA	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1 protein isoform a	388					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			skin(1)	1		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)										Hermansky-Pudlak_syndrome		OREG0020430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PAX2	5076	broad.mit.edu	37	10	102510447	102510447	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:102510447G>A	uc001krk.3	+						PAX2_uc001krl.3_Intron|PAX2_uc001krm.3_Intron|PAX2_uc001kro.3_Intron|PAX2_uc001krn.3_Intron|PAX2_uc010qps.1_Intron|PAX2_uc001krp.1_Intron	NM_003990	NP_003981			paired box protein 2 isoform e						anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity				0		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)														---	---	---	---
SEMA4G	57715	broad.mit.edu	37	10	102743183	102743183	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:102743183C>T	uc001krw.1	+	14	2211	c.1827C>T	c.(1825-1827)AGC>AGT	p.S609S	SEMA4G_uc001krv.2_RNA|SEMA4G_uc001krx.2_Intron|MRPL43_uc001kry.1_Intron|MRPL43_uc010qpu.1_Intron|MRPL43_uc001krz.1_Intron|MRPL43_uc001ksa.1_Intron|MRPL43_uc001ksb.1_Intron	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	semaphorin 4G	604	Extracellular (Potential).|Ig-like C2-type.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)	1		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)														---	---	---	---
C10orf2	56652	broad.mit.edu	37	10	102748165	102748165	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:102748165G>A	uc001ksf.2	+	1	873	c.198G>A	c.(196-198)GGG>GGA	p.G66G	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.2_5'Flank|C10orf2_uc001ksg.2_Silent_p.G66G|C10orf2_uc001ksi.2_Intron|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksh.2_Intron	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	twinkle isoform A	66					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			ovary(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)														---	---	---	---
C10orf2	56652	broad.mit.edu	37	10	102748553	102748553	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:102748553C>T	uc001ksf.2	+	1	1261	c.586C>T	c.(586-588)CGA>TGA	p.R196*	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.2_5'Flank|C10orf2_uc001ksg.2_Nonsense_Mutation_p.R196*|C10orf2_uc001ksi.2_Intron|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksh.2_Intron	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	twinkle isoform A	196					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			ovary(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)														---	---	---	---
TLX1NB	100038246	broad.mit.edu	37	10	102849604	102849604	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:102849604T>G	uc001ksv.2	-	3	1356	c.59A>C	c.(58-60)CAC>CCC	p.H20P		NM_001085398	NP_001078867	P0CAT3	TLXNB_HUMAN	TLX1 divergent	20											0																		---	---	---	---
DPCD	25911	broad.mit.edu	37	10	103360573	103360573	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103360573G>A	uc001ktn.2	+	3	229	c.224G>A	c.(223-225)GGA>GAA	p.G75E	hsa-mir-3158-1|MI0014186_5'Flank	NM_015448	NP_056263	Q9BVM2	DPCD_HUMAN	DPCD protein	75							protein binding			skin(1)	1																		---	---	---	---
ARL3	403	broad.mit.edu	37	10	104436643	104436643	+	3'UTR	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104436643T>C	uc001kwa.2	-	6						NM_004311	NP_004302			ADP-ribosylation factor-like 3						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)														---	---	---	---
CNNM2	54805	broad.mit.edu	37	10	104679834	104679834	+	Missense_Mutation	SNP	G	A	A	rs146507239		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104679834G>A	uc001kwm.2	+	1	1721	c.1597G>A	c.(1597-1599)GCT>ACT	p.A533T	CNNM2_uc001kwn.2_Missense_Mutation_p.A533T|CNNM2_uc001kwl.2_Missense_Mutation_p.A533T	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	533	CBS 2.				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)														---	---	---	---
SLK	9748	broad.mit.edu	37	10	105761303	105761303	+	Silent	SNP	T	C	C	rs139324300		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105761303T>C	uc001kxo.1	+	8	1000	c.966T>C	c.(964-966)GAT>GAC	p.D322D	SLK_uc001kxp.1_Silent_p.D322D	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	serine/threonine kinase 2	322	Glu-rich.				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)														---	---	---	---
ITPRIP	85450	broad.mit.edu	37	10	106075805	106075805	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:106075805G>A	uc001kye.2	-	2	78	c.5C>T	c.(4-6)GCC>GTC	p.A2V	ITPRIP_uc001kyf.2_Missense_Mutation_p.A2V|ITPRIP_uc001kyg.2_Missense_Mutation_p.A2V	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-triphosphate receptor interacting	2						plasma membrane					0																		---	---	---	---
PDCD4	27250	broad.mit.edu	37	10	112647471	112647471	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:112647471G>A	uc001kzh.2	+	6	847	c.604G>A	c.(604-606)GTG>ATG	p.V202M	PDCD4_uc001kzg.2_Missense_Mutation_p.V191M|PDCD4_uc010qre.1_Missense_Mutation_p.V188M	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	programmed cell death 4 isoform 1	202	MI 1.				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			ovary(1)|breast(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)														---	---	---	---
HABP2	3026	broad.mit.edu	37	10	115336940	115336940	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115336940C>T	uc001lai.3	+	5	466	c.363C>T	c.(361-363)GGC>GGT	p.G121G	HABP2_uc010qrz.1_RNA|HABP2_uc010qry.1_Missense_Mutation_p.A110V	NM_004132	NP_004123	Q14520	HABP2_HUMAN	hyaluronan binding protein 2 preproprotein	121	EGF-like 2.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)														---	---	---	---
HABP2	3026	broad.mit.edu	37	10	115344051	115344051	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115344051C>T	uc001lai.3	+							NM_004132	NP_004123			hyaluronan binding protein 2 preproprotein						cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)														---	---	---	---
PNLIP	5406	broad.mit.edu	37	10	118306822	118306822	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118306822C>T	uc001lcm.2	+	3	106	c.63C>T	c.(61-63)TAC>TAT	p.Y21Y		NM_000936	NP_000927	P16233	LIPP_HUMAN	pancreatic lipase precursor	21					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)													---	---	---	---
HTRA1	5654	broad.mit.edu	37	10	124249045	124249045	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124249045G>A	uc001lgj.2	+	3	808	c.680G>A	c.(679-681)CGG>CAG	p.R227Q		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1 precursor	227	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)																---	---	---	---
UROS	7390	broad.mit.edu	37	10	127477552	127477552	+	Missense_Mutation	SNP	G	A	A	rs121908014		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:127477552G>A	uc001liw.3	-	9	816	c.683C>T	c.(682-684)ACG>ATG	p.T228M	UROS_uc001liv.3_Missense_Mutation_p.T161M|UROS_uc010quh.1_RNA|UROS_uc001lix.3_Missense_Mutation_p.T228M|UROS_uc001liy.3_RNA	NM_000375	NP_000366	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	228			T -> M (in CEP; no detectable activity).	T->A: Impairs enzymatic activity.	heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity				0		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)																---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129902596	129902596	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:129902596C>T	uc001lke.2	-	13	7703	c.7508G>A	c.(7507-7509)CGG>CAG	p.R2503Q	MKI67_uc001lkf.2_Missense_Mutation_p.R2143Q|MKI67_uc009yav.1_Missense_Mutation_p.R2078Q|MKI67_uc009yaw.1_Missense_Mutation_p.R1653Q	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2503	16 X 122 AA approximate repeats.|13.				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)																---	---	---	---
ANO9	338440	broad.mit.edu	37	11	418560	418560	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:418560G>A	uc001lpi.2	-	23	2245	c.2160C>T	c.(2158-2160)GCC>GCT	p.A720A	SIGIRR_uc001lpf.2_5'Flank|SIGIRR_uc001lpe.1_5'Flank|ANO9_uc001lph.2_Silent_p.A413A|ANO9_uc010qvv.1_Silent_p.A576A	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	tumor protein p53 inducible protein 5	720	Helical; (Potential).					chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4																		---	---	---	---
RNH1	6050	broad.mit.edu	37	11	494914	494914	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:494914G>A	uc001lpk.1	-	8	2675	c.1267C>T	c.(1267-1269)CGG>TGG	p.R423W	RNH1_uc001lpl.1_Missense_Mutation_p.R423W|RNH1_uc001lpm.1_Missense_Mutation_p.R423W|RNH1_uc001lpn.1_Missense_Mutation_p.R423W|RNH1_uc001lpo.1_Missense_Mutation_p.R423W|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Missense_Mutation_p.R423W|RNH1_uc001lpt.1_Missense_Mutation_p.R180W|RNH1_uc001lpq.1_Missense_Mutation_p.R423W|RNH1_uc001lpr.1_Missense_Mutation_p.R423W|RNH1_uc001lps.1_Missense_Mutation_p.R423W	NM_203389	NP_976323	P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor	423	LRR 15.			RQ -> SE (in Ref. 2; CAA32151/AAA60249).	mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity				0		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-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;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)														---	---	---	---
RNH1	6050	broad.mit.edu	37	11	498841	498841	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:498841C>A	uc001lpk.1	-	5	2115	c.707G>T	c.(706-708)AGC>ATC	p.S236I	RNH1_uc001lpl.1_Missense_Mutation_p.S236I|RNH1_uc001lpm.1_Missense_Mutation_p.S236I|RNH1_uc001lpn.1_Missense_Mutation_p.S236I|RNH1_uc001lpo.1_Missense_Mutation_p.S236I|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Missense_Mutation_p.S236I|RNH1_uc001lpt.1_5'UTR|RNH1_uc001lpq.1_Missense_Mutation_p.S236I|RNH1_uc001lpr.1_Missense_Mutation_p.S236I|RNH1_uc001lps.1_Missense_Mutation_p.S236I	NM_203389	NP_976323	P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor	236	LRR 8.				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity				0		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-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;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)														---	---	---	---
RRM1	6240	broad.mit.edu	37	11	4144429	4144429	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4144429C>T	uc001lyw.3	+	12	1454	c.1135C>T	c.(1135-1137)CGT>TGT	p.R379C	RRM1_uc009yej.2_RNA|RRM1_uc009yei.2_Missense_Mutation_p.R339C|RRM1_uc010qyc.1_Missense_Mutation_p.R282C|RRM1_uc010qyd.1_Missense_Mutation_p.R41C	NM_001033	NP_001024	P23921	RIR1_HUMAN	ribonucleoside-diphosphate reductase M1 chain	379					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)													---	---	---	---
TRIM6	117854	broad.mit.edu	37	11	5632556	5632556	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5632556G>A	uc001mbc.1	+	8	1583	c.1451G>A	c.(1450-1452)CGT>CAT	p.R484H	HBG2_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.2_Intron|TRIM6_uc009yeo.1_Missense_Mutation_p.R458H|TRIM6_uc010qzj.1_Missense_Mutation_p.R309H|TRIM6_uc001mbe.2_Missense_Mutation_p.R309H|TRIM6_uc010qzk.1_Missense_Mutation_p.R309H|TRIM6_uc010qzl.1_Missense_Mutation_p.R309H|TRIM6_uc001mbd.2_Missense_Mutation_p.R512H|TRIM6_uc001mbg.1_Missense_Mutation_p.R309H|TRIM6_uc009yep.1_3'UTR	NM_058166	NP_477514	Q9C030	TRIM6_HUMAN	tripartite motif-containing 6 isoform 2	484	B30.2/SPRY.				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)														---	---	---	---
OR52E6	390078	broad.mit.edu	37	11	5862873	5862873	+	Silent	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5862873G>T	uc010qzq.1	-	1	255	c.255C>A	c.(253-255)GGC>GGA	p.G85G	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E,	85	Extracellular (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;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
OR52E6	390078	broad.mit.edu	37	11	5862874	5862874	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5862874C>T	uc010qzq.1	-	1	254	c.254G>A	c.(253-255)GGC>GAC	p.G85D	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E,	85	Extracellular (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;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
OR10A4	283297	broad.mit.edu	37	11	6898314	6898314	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6898314G>A	uc010rat.1	+	1	436	c.436G>A	c.(436-438)GCA>ACA	p.A146T		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A,	146	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)														---	---	---	---
ZNF214	7761	broad.mit.edu	37	11	7021712	7021712	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7021712A>C	uc001mfa.2	-	3	1505	c.1202T>G	c.(1201-1203)CTT>CGT	p.L401R	ZNF214_uc010ray.1_Missense_Mutation_p.L401R|ZNF214_uc009yfh.1_Missense_Mutation_p.L401R	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	zinc finger protein 214	401	C2H2-type 5.				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)														---	---	---	---
ZNF214	7761	broad.mit.edu	37	11	7022691	7022691	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7022691C>T	uc001mfa.2	-	3	526	c.223G>A	c.(223-225)GCC>ACC	p.A75T	ZNF214_uc010ray.1_Missense_Mutation_p.A75T|ZNF214_uc009yfh.1_Missense_Mutation_p.A75T	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	zinc finger protein 214	75	KRAB.				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)														---	---	---	---
RBMXL2	27288	broad.mit.edu	37	11	7111338	7111338	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7111338T>C	uc001mfc.2	+	1	1174	c.987T>C	c.(985-987)AGT>AGC	p.S329S		NM_014469	NP_055284	O75526	HNRGT_HUMAN	testes-specific heterogenous nuclear	329	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)														---	---	---	---
IPO7	10527	broad.mit.edu	37	11	9451349	9451349	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:9451349A>G	uc001mho.2	+	15	1862	c.1720A>G	c.(1720-1722)ACT>GCT	p.T574A		NM_006391	NP_006382	O95373	IPO7_HUMAN	importin 7	574					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			lung(1)|breast(1)	2				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)														---	---	---	---
USH1C	10083	broad.mit.edu	37	11	17519712	17519712	+	Silent	SNP	G	A	A	rs142801489		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17519712G>A	uc001mnf.2	-	19	1696	c.1587C>T	c.(1585-1587)GGC>GGT	p.G529G	USH1C_uc001mne.2_Silent_p.G829G|USH1C_uc009yhb.2_Silent_p.G510G|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Silent_p.G493G	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	harmonin isoform a	529	PDZ 3.				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																		---	---	---	---
MRGPRX3	117195	broad.mit.edu	37	11	18159640	18159640	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:18159640C>T	uc001mnu.2	+	3	1252	c.891C>T	c.(889-891)GAC>GAT	p.D297D		NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	297	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2																		---	---	---	---
MRGPRX1	259249	broad.mit.edu	37	11	18955384	18955384	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:18955384C>T	uc001mpg.2	-	1	1166	c.948G>A	c.(946-948)TCG>TCA	p.S316S		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	316	Cytoplasmic (Potential).				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(2)|central_nervous_system(1)	3																		---	---	---	---
MRGPRX1	259249	broad.mit.edu	37	11	18956154	18956154	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:18956154C>T	uc001mpg.2	-	1	396	c.178G>A	c.(178-180)GCC>ACC	p.A60T		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	60	Cytoplasmic (Potential).				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(2)|central_nervous_system(1)	3																		---	---	---	---
ABTB2	25841	broad.mit.edu	37	11	34218969	34218969	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:34218969C>T	uc001mvl.1	-	3	819	c.589G>A	c.(589-591)GCC>ACC	p.A197T		NM_145804	NP_665803	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing	197							DNA binding			central_nervous_system(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)																---	---	---	---
PRR5L	79899	broad.mit.edu	37	11	36459025	36459025	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:36459025A>G	uc001mwo.3	+	6	832	c.443A>G	c.(442-444)CAG>CGG	p.Q148R	PRR5L_uc001mwp.2_Missense_Mutation_p.Q148R|PRR5L_uc009ykk.2_Missense_Mutation_p.Q67R|PRR5L_uc010rfc.1_Missense_Mutation_p.Q148R	NM_001160167	NP_001153639	Q6MZQ0	PRR5L_HUMAN	protor-2 isoform a	148										ovary(1)	1																		---	---	---	---
CHST1	8534	broad.mit.edu	37	11	45672102	45672102	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:45672102C>T	uc001mys.1	-	4	1043	c.372G>A	c.(370-372)CTG>CTA	p.L124L		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	124	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)														---	---	---	---
CHRM4	1132	broad.mit.edu	37	11	46406884	46406884	+	Silent	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:46406884G>T	uc001nct.1	-	1	1224	c.1224C>A	c.(1222-1224)GCC>GCA	p.A408A		NM_000741	NP_000732	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	408	Helical; Name=6; (By similarity).				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity				0				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)													---	---	---	---
SPI1	6688	broad.mit.edu	37	11	47399893	47399893	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47399893C>T	uc001nfc.1	-	1	235	c.12G>A	c.(10-12)GCG>GCA	p.A4A	SPI1_uc001nfb.1_Silent_p.A4A|SLC39A13_uc001nfd.2_Intron|SPI1_uc009ylp.1_Translation_Start_Site	NM_003120	NP_003111	P17947	SPI1_HUMAN	hematopoietic transcription factor PU.1 isoform	4					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|central_nervous_system(1)	2				Lung(87;0.0967)														---	---	---	---
OR10AG1	282770	broad.mit.edu	37	11	55735092	55735092	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55735092A>G	uc010rit.1	-	1	848	c.848T>C	c.(847-849)CTG>CCG	p.L283P		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG,	283	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.0137)																	---	---	---	---
SSRP1	6749	broad.mit.edu	37	11	57099223	57099223	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57099223C>T	uc001njt.2	-	9	1409	c.1142G>A	c.(1141-1143)CGT>CAT	p.R381H		NM_003146	NP_003137	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	381					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			ovary(2)	2																		---	---	---	---
SSRP1	6749	broad.mit.edu	37	11	57100495	57100495	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57100495A>G	uc001njt.2	-	5	742	c.475T>C	c.(475-477)TCT>CCT	p.S159P	SSRP1_uc010rjq.1_Missense_Mutation_p.S159P	NM_003146	NP_003137	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	159					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			ovary(2)	2																		---	---	---	---
CTNND1	1500	broad.mit.edu	37	11	57577702	57577702	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57577702T>C	uc001nmc.3	+						CTNND1_uc001nlh.1_Intron|CTNND1_uc001nlu.3_Intron|CTNND1_uc001nlt.3_Intron|CTNND1_uc001nls.3_Intron|CTNND1_uc001nlw.3_Intron|CTNND1_uc001nmf.3_Intron|CTNND1_uc001nmd.3_Intron|CTNND1_uc001nlk.3_Intron|CTNND1_uc001nme.3_Intron|CTNND1_uc001nll.3_Intron|CTNND1_uc001nmg.3_Intron|CTNND1_uc001nlj.3_Intron|CTNND1_uc001nlr.3_Intron|CTNND1_uc001nlp.3_Intron|CTNND1_uc001nlx.3_Intron|CTNND1_uc001nlz.3_Intron|CTNND1_uc009ymn.2_Intron|CTNND1_uc001nlm.3_Intron|CTNND1_uc001nly.3_Intron|CTNND1_uc001nmb.3_Intron|CTNND1_uc001nma.3_Intron|CTNND1_uc001nmi.3_Intron|CTNND1_uc001nmh.3_Intron|CTNND1_uc001nlq.3_Intron|CTNND1_uc001nln.3_Intron|CTNND1_uc001nli.3_Intron|CTNND1_uc001nlo.3_Intron|CTNND1_uc001nlv.3_Intron	NM_001085458	NP_001078927			catenin, delta 1 isoform 1ABC						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)																---	---	---	---
TCN1	6947	broad.mit.edu	37	11	59622240	59622240	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:59622240C>T	uc001noj.2	-	7	1104	c.1006G>A	c.(1006-1008)GTC>ATC	p.V336I		NM_001062	NP_001053	P20061	TCO1_HUMAN	transcobalamin I precursor	336					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			ovary(2)	2		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)													---	---	---	---
MS4A12	54860	broad.mit.edu	37	11	60269478	60269478	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60269478C>G	uc001npr.2	+	4	494	c.437C>G	c.(436-438)TCT>TGT	p.S146C		NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member	146	Cytoplasmic (Potential).					integral to membrane	receptor activity				0																		---	---	---	---
VWCE	220001	broad.mit.edu	37	11	61032017	61032017	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61032017G>A	uc001nra.2	-	19	2451	c.2172C>T	c.(2170-2172)TGC>TGT	p.C724C	VWCE_uc001nrb.2_RNA	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	724	VWFC 6.					extracellular region	calcium ion binding			ovary(1)	1																		---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61097046	61097046	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61097046C>T	uc001nrc.3	-	4	564	c.338G>A	c.(337-339)GGC>GAC	p.G113D	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.G113D|DDB1_uc010rlg.1_5'Flank|DDB1_uc001nrd.2_Missense_Mutation_p.G113D|DDB1_uc009ynl.1_Intron	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	113	Interaction with CDT1.				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					---	---	---	---
DAGLA	747	broad.mit.edu	37	11	61488196	61488196	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61488196G>A	uc001nsa.2	+	3	252	c.141G>A	c.(139-141)CCG>CCA	p.P47P		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	47	Extracellular (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)														---	---	---	---
INCENP	3619	broad.mit.edu	37	11	61897808	61897808	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61897808C>A	uc001nsw.1	+	4	1011	c.809C>A	c.(808-810)CCA>CAA	p.P270Q	INCENP_uc009ynv.2_Missense_Mutation_p.P270Q|INCENP_uc009ynw.1_Missense_Mutation_p.P270Q|INCENP_uc001nsx.1_Missense_Mutation_p.P270Q	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	270					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			lung(1)	1																		---	---	---	---
TAF6L	10629	broad.mit.edu	37	11	62554065	62554065	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62554065G>A	uc001nvc.2	+	11	1267	c.1166G>A	c.(1165-1167)TGC>TAC	p.C389Y	TMEM179B_uc001nvd.3_5'Flank	NM_006473	NP_006464	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II	389					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			ovary(3)	3																OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
NRXN2	9379	broad.mit.edu	37	11	64453271	64453271	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64453271C>T	uc001oar.2	-	7	1438	c.999G>A	c.(997-999)TCG>TCA	p.S333S	NRXN2_uc001oas.2_Silent_p.S309S|NRXN2_uc001oaq.2_Silent_p.S7S	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																		---	---	---	---
MEN1	4221	broad.mit.edu	37	11	64575097	64575097	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64575097G>A	uc001obj.2	-	4	798	c.725C>T	c.(724-726)GCG>GTG	p.A242V	MEN1_uc001obk.2_Missense_Mutation_p.A242V|MEN1_uc001obl.2_Missense_Mutation_p.A202V|MEN1_uc001obm.2_Missense_Mutation_p.A237V|MEN1_uc001obn.2_Missense_Mutation_p.A242V|MEN1_uc001obo.2_Missense_Mutation_p.A242V|MEN1_uc001obp.2_Missense_Mutation_p.A237V|MEN1_uc001obq.2_Missense_Mutation_p.A242V|MEN1_uc001obr.2_Missense_Mutation_p.A242V	NM_130800	NP_570712	O00255	MEN1_HUMAN	menin isoform 1	242	Interaction with FANCD2.				DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.A242_I247del(1)		parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238								D|Mis|N|F|S		parathyroid tumors|Pancreatic neuroendocrine tumors	parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid			Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1				---	---	---	---
ATG2A	23130	broad.mit.edu	37	11	64676743	64676743	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64676743T>G	uc001obx.2	-	15	2319	c.2204A>C	c.(2203-2205)CAG>CCG	p.Q735P		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	735							protein binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
KLC2	64837	broad.mit.edu	37	11	66033586	66033586	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66033586G>A	uc010rov.1	+	14	1868	c.1625G>A	c.(1624-1626)CGC>CAC	p.R542H	KLC2_uc010row.1_Missense_Mutation_p.R542H|KLC2_uc009yra.2_Intron|KLC2_uc001ohb.2_Missense_Mutation_p.R542H|KLC2_uc010rox.1_Missense_Mutation_p.R465H|KLC2_uc001ohc.2_Missense_Mutation_p.R542H|KLC2_uc001ohd.2_Missense_Mutation_p.R465H|KLC2_uc001ohe.1_Missense_Mutation_p.R403H|RAB1B_uc001ohf.2_5'Flank	NM_001134775	NP_001128247	Q9H0B6	KLC2_HUMAN	kinesin light chain 2 isoform 1	542					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0																		---	---	---	---
CCDC87	55231	broad.mit.edu	37	11	66359936	66359936	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66359936C>A	uc001oiq.3	-	1	619	c.551G>T	c.(550-552)AGG>ATG	p.R184M	CCS_uc001oir.2_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	184										ovary(1)|skin(1)	2																		---	---	---	---
RBM4	5936	broad.mit.edu	37	11	66411194	66411194	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66411194G>A	uc009yrj.2	+	3	1174	c.686G>A	c.(685-687)CGG>CAG	p.R229Q	RBM4_uc009yrk.2_Missense_Mutation_p.R204Q|RBM4_uc001oiw.1_Missense_Mutation_p.R229Q|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Missense_Mutation_p.R229Q|RBM4_uc001oiz.1_Missense_Mutation_p.R229Q	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	229	Interaction with TNPO3.				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)														---	---	---	---
CHKA	1119	broad.mit.edu	37	11	67821508	67821508	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67821508C>T	uc001onj.2	-	12	1535	c.1321G>A	c.(1321-1323)GCC>ACC	p.A441T	CHKA_uc001onk.2_Missense_Mutation_p.A423T	NM_001277	NP_001268	P35790	CHKA_HUMAN	choline kinase alpha isoform a	441					lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity			ovary(1)|central_nervous_system(1)	2					Choline(DB00122)													---	---	---	---
FCHSD2	9873	broad.mit.edu	37	11	72553749	72553749	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:72553749G>A	uc009ytl.2	-	17	2064	c.1843C>T	c.(1843-1845)CGT>TGT	p.R615C	FCHSD2_uc010rrg.1_Missense_Mutation_p.R479C|FCHSD2_uc001oth.3_Missense_Mutation_p.R559C|ATG16L2_uc009ytj.1_3'UTR	NM_014824	NP_055639	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	615	SH3 2.						protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)															---	---	---	---
RELT	84957	broad.mit.edu	37	11	73106270	73106270	+	Silent	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:73106270G>T	uc001otv.2	+	10	1350	c.1185G>T	c.(1183-1185)CTG>CTT	p.L395L	RELT_uc001otw.2_Silent_p.L395L|RELT_uc001otx.2_RNA	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor precursor	395	Cytoplasmic (Potential).					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
XRRA1	143570	broad.mit.edu	37	11	74562191	74562191	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74562191C>T	uc009yub.2	-	14	1630	c.1298G>A	c.(1297-1299)CGA>CAA	p.R433Q	XRRA1_uc001ovm.2_RNA|XRRA1_uc001ovn.2_Missense_Mutation_p.R56Q|XRRA1_uc001ovo.2_Missense_Mutation_p.R41Q|XRRA1_uc001ovq.3_Missense_Mutation_p.R346Q|XRRA1_uc001ovp.3_Missense_Mutation_p.R158Q|XRRA1_uc001ovr.2_Missense_Mutation_p.R56Q|XRRA1_uc001ovs.1_Intron	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	433					response to X-ray	cytoplasm|nucleus				central_nervous_system(1)	1																		---	---	---	---
NEU3	10825	broad.mit.edu	37	11	74716692	74716692	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74716692G>A	uc001ovw.2	+	3	697	c.541G>A	c.(541-543)GTC>ATC	p.V181I	NEU3_uc001ovv.2_Missense_Mutation_p.V171I|NEU3_uc010rrl.1_Missense_Mutation_p.V72I	NM_006656	NP_006647	A8K327	A8K327_HUMAN	sialidase 3	181										ovary(2)	2																		---	---	---	---
RSF1	51773	broad.mit.edu	37	11	77383228	77383228	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77383228G>A	uc001oyn.2	-	15	3730	c.3610C>T	c.(3610-3612)CGA>TGA	p.R1204*	RSF1_uc001oym.2_Nonsense_Mutation_p.R952*	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1204	Arg-rich.				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)															---	---	---	---
DLG2	1740	broad.mit.edu	37	11	83691553	83691553	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:83691553A>G	uc001paj.2	-	7	1040	c.737T>C	c.(736-738)CTA>CCA	p.L246P	DLG2_uc001pai.2_Missense_Mutation_p.L195P|DLG2_uc010rsy.1_Missense_Mutation_p.L213P|DLG2_uc010rsz.1_Missense_Mutation_p.L246P|DLG2_uc010rta.1_Missense_Mutation_p.L246P|DLG2_uc001pak.2_Missense_Mutation_p.L351P|DLG2_uc010rtb.1_Missense_Mutation_p.L213P|DLG2_uc001pal.1_Missense_Mutation_p.L246P|DLG2_uc001pam.1_Missense_Mutation_p.L285P	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	246	PDZ 2.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)																---	---	---	---
DLG2	1740	broad.mit.edu	37	11	84028016	84028016	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:84028016C>T	uc001paj.2	-						DLG2_uc010rsz.1_Intron|DLG2_uc010rta.1_Intron|DLG2_uc001pak.2_Intron|DLG2_uc001pal.1_Intron|DLG2_uc001pam.1_Missense_Mutation_p.G58D	NM_001364	NP_001355			chapsyn-110 isoform 2							cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)																---	---	---	---
NAALAD2	10003	broad.mit.edu	37	11	89896482	89896482	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:89896482G>A	uc001pdf.3	+	10	1189	c.1080G>A	c.(1078-1080)AGG>AGA	p.R360R	NAALAD2_uc009yvx.2_Silent_p.R327R|NAALAD2_uc009yvy.2_Intron|NAALAD2_uc001pde.2_Silent_p.R267R	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	360	Extracellular (Potential).|NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)|skin(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)																---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92564790	92564790	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92564790A>G	uc001pdj.3	+	13	9501	c.9484A>G	c.(9484-9486)ATC>GTC	p.I3162V		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3162	Cadherin 29.|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)			---	---	---	---
PIWIL4	143689	broad.mit.edu	37	11	94328536	94328536	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:94328536T>C	uc001pfa.2	+	10	1423	c.1212T>C	c.(1210-1212)CGT>CGC	p.R404R	PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	piwi-like 4	404					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			skin(1)	1		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)																---	---	---	---
PGR	5241	broad.mit.edu	37	11	100909916	100909916	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:100909916T>G	uc001pgh.2	-	8	3476	c.2733A>C	c.(2731-2733)GAA>GAC	p.E911D	PGR_uc001pgg.2_Missense_Mutation_p.E292D|PGR_uc001pgi.2_Missense_Mutation_p.E809D|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	911	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)													---	---	---	---
TRPC6	7225	broad.mit.edu	37	11	101375456	101375456	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:101375456G>A	uc001pgk.3	-	2	669	c.244C>T	c.(244-246)CGA>TGA	p.R82*	TRPC6_uc009ywy.2_Nonsense_Mutation_p.R82*|TRPC6_uc009ywz.1_Nonsense_Mutation_p.R82*	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	82	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)														---	---	---	---
ANGPTL5	253935	broad.mit.edu	37	11	101762047	101762047	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:101762047A>G	uc001pgl.2	-	9	1726	c.1130T>C	c.(1129-1131)ATG>ACG	p.M377T		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5 precursor	377	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			ovary(1)	1		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)														---	---	---	---
SIK2	23235	broad.mit.edu	37	11	111594498	111594498	+	Missense_Mutation	SNP	G	A	A	rs34223841	byFrequency	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:111594498G>A	uc001plt.2	+	15	2544	c.2426G>A	c.(2425-2427)CGG>CAG	p.R809Q		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	SNF1-like kinase 2	809					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																		---	---	---	---
DIXDC1	85458	broad.mit.edu	37	11	111866267	111866267	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:111866267G>A	uc001pml.2	+	17	1965	c.1668G>A	c.(1666-1668)ACG>ACA	p.T556T	DIXDC1_uc001pmm.2_Silent_p.T345T|DIXDC1_uc001pmn.2_Silent_p.T262T|DIXDC1_uc010rwq.1_Silent_p.T221T	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	DIX domain containing 1 isoform a	556					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)														---	---	---	---
HTR3A	3359	broad.mit.edu	37	11	113857293	113857293	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113857293C>A	uc010rxb.1	+	7	1010	c.777C>A	c.(775-777)AGC>AGA	p.S259R	HTR3A_uc010rxa.1_Missense_Mutation_p.S259R|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Missense_Mutation_p.S238R	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	253	Helical; Name=1; (Potential).				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)													---	---	---	---
CEP164	22897	broad.mit.edu	37	11	117280458	117280458	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117280458G>A	uc001prc.2	+	30	4020	c.3873G>A	c.(3871-3873)CCG>CCA	p.P1291P	CEP164_uc001prb.2_Silent_p.P1286P|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Silent_p.P716P	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1291					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	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;4e-05)|Epithelial(105;0.0008)														---	---	---	---
MLL	4297	broad.mit.edu	37	11	118373724	118373724	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118373724C>A	uc001pta.2	+	27	7131	c.7108C>A	c.(7108-7110)CTC>ATC	p.L2370I	MLL_uc001ptb.2_Missense_Mutation_p.L2373I	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	2370					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								---	---	---	---
HYOU1	10525	broad.mit.edu	37	11	118919524	118919524	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118919524G>A	uc001puu.2	-	18	2260	c.2067C>T	c.(2065-2067)CCC>CCT	p.P689P	HYOU1_uc001put.2_Silent_p.P654P|HYOU1_uc010ryu.1_Silent_p.P647P|HYOU1_uc010ryv.1_Silent_p.P578P|HYOU1_uc001pux.3_Silent_p.P689P|HYOU1_uc010ryw.1_RNA	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1 precursor	689						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)														---	---	---	---
C2CD2L	9854	broad.mit.edu	37	11	118983195	118983195	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118983195A>G	uc001pvo.2	+	9	1447	c.1088A>G	c.(1087-1089)GAA>GGA	p.E363G	C2CD2L_uc001pvn.2_Missense_Mutation_p.E363G	NM_014807	NP_055622	O14523	C2C2L_HUMAN	transmembrane protein 24	363						integral to membrane					0																		---	---	---	---
PVRL1	5818	broad.mit.edu	37	11	119535676	119535676	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119535676G>A	uc001pwv.2	-	6	1507	c.1335C>T	c.(1333-1335)GGC>GGT	p.G445G	PVRL1_uc001pwu.1_Intron	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 isoform 1	445	Poly-Gly.|Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity				0		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)														---	---	---	---
PVRL1	5818	broad.mit.edu	37	11	119549297	119549297	+	Silent	SNP	G	A	A	rs150914244		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119549297G>A	uc001pwv.2	-	2	430	c.258C>T	c.(256-258)GGC>GGT	p.G86G	PVRL1_uc001pwu.1_Silent_p.G86G|PVRL1_uc001pww.2_Silent_p.G86G	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 isoform 1	86	Extracellular (Potential).|Ig-like V-type.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity				0		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)														---	---	---	---
OR6M1	390261	broad.mit.edu	37	11	123676666	123676666	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123676666G>A	uc010rzz.1	-	1	392	c.392C>T	c.(391-393)ACG>ATG	p.T131M		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M,	131	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)														---	---	---	---
OR8B8	26493	broad.mit.edu	37	11	124310482	124310482	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124310482G>A	uc010sal.1	-	1	500	c.500C>T	c.(499-501)ACC>ATC	p.T167I		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B,	167	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)														---	---	---	---
SRPR	6734	broad.mit.edu	37	11	126136758	126136758	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:126136758C>T	uc001qdh.2	-	5	637	c.586G>A	c.(586-588)GTG>ATG	p.V196M	SRPR_uc010sbm.1_Missense_Mutation_p.V168M|FOXRED1_uc001qdi.2_5'Flank|FOXRED1_uc010sbn.1_5'Flank|FOXRED1_uc010sbo.1_5'Flank|FOXRED1_uc010sbp.1_5'Flank|FOXRED1_uc010sbq.1_5'Flank|FOXRED1_uc001qdj.2_5'Flank|FOXRED1_uc010sbr.1_5'Flank	NM_003139	NP_003130	P08240	SRPR_HUMAN	signal recognition particle receptor	196					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding				0	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)														---	---	---	---
FOXRED1	55572	broad.mit.edu	37	11	126146096	126146096	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:126146096C>A	uc001qdi.2	+	8	1000	c.953C>A	c.(952-954)CCT>CAT	p.P318H	FOXRED1_uc010sbn.1_Missense_Mutation_p.P148H|FOXRED1_uc010sbo.1_RNA|FOXRED1_uc010sbp.1_Missense_Mutation_p.P131H|FOXRED1_uc010sbq.1_Missense_Mutation_p.P185H|FOXRED1_uc001qdj.2_Missense_Mutation_p.P107H|FOXRED1_uc010sbr.1_Missense_Mutation_p.P304H|FOXRED1_uc001qdk.2_Missense_Mutation_p.P107H	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing	318						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)														---	---	---	---
KIRREL3	84623	broad.mit.edu	37	11	126314938	126314938	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:126314938G>A	uc001qea.2	-	10	1549	c.1188C>T	c.(1186-1188)TAC>TAT	p.Y396Y	KIRREL3_uc001qeb.2_Silent_p.Y396Y|KIRREL3_uc001qec.1_Silent_p.Y396Y	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 isoform 1	396	Extracellular (Potential).|Ig-like C2-type 4.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			ovary(3)	3	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)														---	---	---	---
NFRKB	4798	broad.mit.edu	37	11	129739602	129739602	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:129739602G>A	uc001qfi.2	-	24	3519	c.3318C>T	c.(3316-3318)ACC>ACT	p.T1106T	NFRKB_uc001qfg.2_Silent_p.T1131T|NFRKB_uc001qfh.2_Silent_p.T1129T|NFRKB_uc010sbw.1_Silent_p.T1116T|NFRKB_uc009zcr.2_Silent_p.T392T	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1106					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)														---	---	---	---
GLB1L3	112937	broad.mit.edu	37	11	134147096	134147096	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:134147096G>A	uc009zdf.2	+						GLB1L3_uc010scs.1_Intron|GLB1L3_uc010sct.1_5'Flank	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)														---	---	---	---
GLB1L3	112937	broad.mit.edu	37	11	134147121	134147121	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:134147121G>A	uc009zdf.2	+						GLB1L3_uc010scs.1_Intron|GLB1L3_uc010sct.1_5'Flank	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)														---	---	---	---
HSN2	378465	broad.mit.edu	37	12	978006	978006	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:978006C>T	uc001qiq.2	+	1	1137	c.1011C>T	c.(1009-1011)ATC>ATT	p.I337I	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)															---	---	---	---
CACNA2D4	93589	broad.mit.edu	37	12	1994247	1994247	+	Intron	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:1994247C>A	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)														---	---	---	---
FGF6	2251	broad.mit.edu	37	12	4554633	4554633	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:4554633A>G	uc001qmr.1	-	1	148	c.104T>C	c.(103-105)GTG>GCG	p.V35A		NM_020996	NP_066276	P10767	FGF6_HUMAN	fibroblast growth factor 6 precursor	35					angiogenesis|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	growth factor activity			lung(2)|ovary(1)	3			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)															---	---	---	---
KCNA6	3742	broad.mit.edu	37	12	4920241	4920241	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:4920241G>A	uc001qng.2	+	1	1900	c.1034G>A	c.(1033-1035)CGC>CAC	p.R345H		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	345	Helical; Voltage-sensor; Name=Segment S4; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3															HNSCC(72;0.22)			---	---	---	---
PLEKHG6	55200	broad.mit.edu	37	12	6422807	6422807	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6422807C>T	uc001qnr.2	+	3	299	c.151C>T	c.(151-153)CGA>TGA	p.R51*	PLEKHG6_uc001qns.2_Nonsense_Mutation_p.R51*|PLEKHG6_uc010sew.1_Nonsense_Mutation_p.R51*|PLEKHG6_uc010sex.1_Nonsense_Mutation_p.R19*	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain-containing family G	51					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|skin(1)	2																		---	---	---	---
PLEKHG6	55200	broad.mit.edu	37	12	6435695	6435695	+	Silent	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6435695C>A	uc001qnr.2	+	14	1774	c.1626C>A	c.(1624-1626)CCC>CCA	p.P542P	PLEKHG6_uc010sew.1_Silent_p.P542P|PLEKHG6_uc010sex.1_Silent_p.P510P	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain-containing family G	542					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|skin(1)	2																		---	---	---	---
TNFRSF1A	7132	broad.mit.edu	37	12	6450990	6450990	+	5'UTR	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6450990C>A	uc001qnu.2	-	1					TNFRSF1A_uc010sey.1_5'UTR|TNFRSF1A_uc010sez.1_5'UTR|TNFRSF1A_uc009zek.2_5'UTR|TNFRSF1A_uc010sfa.1_5'UTR	NM_001065	NP_001056			tumor necrosis factor receptor 1 precursor						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																		---	---	---	---
NCAPD2	9918	broad.mit.edu	37	12	6637928	6637928	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6637928A>G	uc001qoo.2	+	26	3429	c.3383A>G	c.(3382-3384)AAG>AGG	p.K1128R	NCAPD2_uc010sfd.1_Missense_Mutation_p.K1083R	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1128					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5																		---	---	---	---
ZNF384	171017	broad.mit.edu	37	12	6781678	6781678	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6781678G>A	uc010sfh.1	-	8	1140	c.932C>T	c.(931-933)ACG>ATG	p.T311M	ZNF384_uc001qpz.2_Intron|ZNF384_uc001qqa.2_Intron|ZNF384_uc001qqb.2_Intron|ZNF384_uc001qqc.2_Intron|ZNF384_uc001qqd.2_Intron|ZNF384_uc001qqe.2_Intron	NM_001135734	NP_001129206	Q8TF68	ZN384_HUMAN	nuclear matrix transcription factor 4 isoform d	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(3)|kidney(1)	8								T	EWSR1|TAF15 	ALL								---	---	---	---
PEX5	5830	broad.mit.edu	37	12	7361095	7361095	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7361095G>A	uc009zfu.1	+	14	1804	c.1224G>A	c.(1222-1224)GCG>GCA	p.A408A	PEX5_uc001qsw.2_Silent_p.A408A|PEX5_uc010sgc.1_Silent_p.A423A|PEX5_uc001qsu.2_Silent_p.A371A|PEX5_uc010sgd.1_Silent_p.A429A|PEX5_uc001qsv.2_Silent_p.A400A	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5 isoform d	408	TPR 3.				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																		---	---	---	---
GUCY2C	2984	broad.mit.edu	37	12	14796578	14796578	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14796578G>A	uc001rcd.2	-	17	1997	c.1860C>T	c.(1858-1860)TGC>TGT	p.C620C		NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	620	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																		---	---	---	---
RERG	85004	broad.mit.edu	37	12	15262151	15262151	+	Nonsense_Mutation	SNP	G	A	A	rs141738265		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:15262151G>A	uc001rcs.2	-	4	633	c.493C>T	c.(493-495)CGA>TGA	p.R165*	RERG_uc001rct.2_Nonsense_Mutation_p.R165*|RERG_uc010shu.1_Nonsense_Mutation_p.R146*	NM_032918	NP_116307	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	165					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			lung(1)	1																		---	---	---	---
ST8SIA1	6489	broad.mit.edu	37	12	22408252	22408252	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:22408252G>A	uc001rfo.3	-	3	935	c.453C>T	c.(451-453)GGC>GGT	p.G151G	ST8SIA1_uc009zix.2_Intron	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	alpha-2,8-sialyltransferase 1	151	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(3)	3																		---	---	---	---
PTHLH	5744	broad.mit.edu	37	12	28123021	28123021	+	5'Flank	SNP	G	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:28123021G>C	uc001rik.2	-						PTHLH_uc001ril.2_5'UTR|PTHLH_uc001rim.2_5'Flank|PTHLH_uc001rin.2_5'UTR	NM_198966	NP_945317			parathyroid hormone-like hormone isoform 1						activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)	1	Lung SC(9;0.184)																	---	---	---	---
CAPRIN2	65981	broad.mit.edu	37	12	30866822	30866822	+	Intron	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:30866822A>C	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	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)																	---	---	---	---
SLC2A13	114134	broad.mit.edu	37	12	40158332	40158332	+	Silent	SNP	T	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:40158332T>A	uc010skm.1	-	9	1701	c.1650A>T	c.(1648-1650)GGA>GGT	p.G550G	C12orf40_uc009zjv.1_Intron	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose	550	Helical; Name=11; (Potential).					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)			---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40631824	40631824	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:40631824T>G	uc001rmg.3	+	5	611	c.490T>G	c.(490-492)TTT>GTT	p.F164V		NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	164					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)																---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43770328	43770328	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:43770328G>A	uc010skx.1	-	33	5124	c.5124C>T	c.(5122-5124)GAC>GAT	p.D1708D		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1708	TSP type-1 15.					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)														---	---	---	---
NELL2	4753	broad.mit.edu	37	12	45004675	45004675	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:45004675C>T	uc001rog.2	-	14	2118	c.1523G>A	c.(1522-1524)TGT>TAT	p.C508Y	NELL2_uc001rof.3_Missense_Mutation_p.C507Y|NELL2_uc001roh.2_Missense_Mutation_p.C508Y|NELL2_uc009zkd.2_Missense_Mutation_p.C507Y|NELL2_uc010skz.1_Missense_Mutation_p.C558Y|NELL2_uc010sla.1_Missense_Mutation_p.C531Y|NELL2_uc001roi.1_Missense_Mutation_p.C508Y|NELL2_uc010slb.1_Missense_Mutation_p.C507Y	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor	508	EGF-like 3.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)														---	---	---	---
WNT1	7471	broad.mit.edu	37	12	49374314	49374314	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49374314C>T	uc001rsu.2	+	3	664	c.466C>T	c.(466-468)CGG>TGG	p.R156W		NM_005430	NP_005421	P04628	WNT1_HUMAN	wingless-type MMTV integration site family,	156					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding			kidney(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.244)														---	---	---	---
LIMA1	51474	broad.mit.edu	37	12	50571305	50571305	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50571305C>T	uc001rwj.3	-	11	1996	c.1822G>A	c.(1822-1824)GTG>ATG	p.V608M	LIMA1_uc001rwg.3_Missense_Mutation_p.V306M|LIMA1_uc001rwh.3_Missense_Mutation_p.V447M|LIMA1_uc001rwi.3_Missense_Mutation_p.V449M|LIMA1_uc001rwk.3_Missense_Mutation_p.V609M|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1 isoform b	608					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			ovary(1)	1																		---	---	---	---
LIMA1	51474	broad.mit.edu	37	12	50575679	50575679	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50575679T>C	uc001rwj.3	-						LIMA1_uc001rwg.3_Intron|LIMA1_uc001rwh.3_Intron|LIMA1_uc001rwi.3_Intron|LIMA1_uc001rwk.3_Intron|LIMA1_uc010smr.1_Intron|LIMA1_uc010sms.1_Intron	NM_016357	NP_057441			LIM domain and actin binding 1 isoform b						actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			ovary(1)	1																		---	---	---	---
KRT73	319101	broad.mit.edu	37	12	53012094	53012094	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53012094C>T	uc001sas.2	-	1	250	c.215G>A	c.(214-216)GGA>GAA	p.G72E		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	72	Head.|Gly-rich.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)														---	---	---	---
TENC1	23371	broad.mit.edu	37	12	53451888	53451888	+	Splice_Site	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53451888T>C	uc001sbp.2	+	14	1230	c.1095_splice	c.e14+2	p.M365_splice	TENC1_uc001sbl.2_Splice_Site_p.M241_splice|TENC1_uc001sbn.2_Splice_Site_p.M375_splice|TENC1_uc001sbo.1_Splice_Site_p.M365_splice|TENC1_uc001sbq.2_5'Flank|TENC1_uc001sbr.2_5'Flank|TENC1_uc009zmr.2_5'Flank	NM_170754	NP_736610			tensin like C1 domain containing phosphatase						intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			ovary(1)|pancreas(1)	2																		---	---	---	---
SOAT2	8435	broad.mit.edu	37	12	53515103	53515103	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53515103C>T	uc001sbv.2	+	12	1242	c.1154C>T	c.(1153-1155)ACG>ATG	p.T385M	SOAT2_uc009zms.2_RNA	NM_003578	NP_003569	O75908	SOAT2_HUMAN	acyl-CoA:cholesterol acyltransferase 2	385					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			ovary(1)	1																		---	---	---	---
ZNF385A	25946	broad.mit.edu	37	12	54765373	54765373	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54765373G>A	uc001sfw.1	-	4	671	c.488C>T	c.(487-489)CCG>CTG	p.P163L	ZNF385A_uc001sfv.1_Missense_Mutation_p.P144L|ZNF385A_uc009zno.1_RNA|ZNF385A_uc010sov.1_Intron|ZNF385A_uc001sfx.1_Missense_Mutation_p.P163L|ZNF385A_uc001sfy.3_Missense_Mutation_p.P183L|ZNF385A_uc001sfz.3_Intron	NM_015481	NP_056296	Q96PM9	Z385A_HUMAN	zinc finger protein 385A isoform c	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			ovary(1)	1																		---	---	---	---
KIAA0748	9840	broad.mit.edu	37	12	55360194	55360194	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:55360194C>T	uc001sgn.3	-	6	435	c.325G>A	c.(325-327)GCC>ACC	p.A109T	KIAA0748_uc001sgl.3_5'UTR|KIAA0748_uc001sgm.3_5'UTR|KIAA0748_uc010spb.1_5'UTR|KIAA0748_uc010spc.1_5'UTR|KIAA0748_uc010spd.1_Missense_Mutation_p.A109T|KIAA0748_uc001sgo.3_RNA	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	109										ovary(1)|central_nervous_system(1)	2																		---	---	---	---
OR6C4	341418	broad.mit.edu	37	12	55945174	55945174	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:55945174C>G	uc010spp.1	+	1	164	c.164C>G	c.(163-165)ACC>AGC	p.T55S		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C,	55	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---
ITGA7	3679	broad.mit.edu	37	12	56082688	56082688	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56082688G>T	uc001shh.2	-	22	3130	c.2910C>A	c.(2908-2910)AGC>AGA	p.S970R	ITGA7_uc001shg.2_Missense_Mutation_p.S966R|ITGA7_uc010sps.1_Missense_Mutation_p.S873R|ITGA7_uc001shf.2_5'Flank|ITGA7_uc009znw.2_Missense_Mutation_p.S213R|ITGA7_uc009znx.2_Missense_Mutation_p.S847R	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	1010	Extracellular (Potential).				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																		---	---	---	---
PAN2	9924	broad.mit.edu	37	12	56718783	56718783	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56718783C>T	uc001skx.2	-						PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Intron|PAN2_uc001sky.2_Intron	NM_001127460	NP_001120932			PAN2 polyA specific ribonuclease subunit homolog						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																		---	---	---	---
GPR182	11318	broad.mit.edu	37	12	57389029	57389029	+	Silent	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57389029G>T	uc001smk.2	+	2	130	c.36G>T	c.(34-36)TCG>TCT	p.S12S	RDH16_uc010sqx.1_Intron	NM_007264	NP_009195	O15218	GP182_HUMAN	G protein-coupled receptor 182	12	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(1)	1																		---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57578995	57578995	+	Intron	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57578995C>A	uc001snd.2	+							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)													---	---	---	---
MON2	23041	broad.mit.edu	37	12	62926342	62926342	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:62926342G>T	uc001sre.2	+	12	1916	c.1525G>T	c.(1525-1527)GAG>TAG	p.E509*	MON2_uc009zqj.2_Nonsense_Mutation_p.E509*|MON2_uc010ssl.1_Nonsense_Mutation_p.E437*|MON2_uc010ssm.1_Nonsense_Mutation_p.E509*|MON2_uc010ssn.1_Nonsense_Mutation_p.E509*|MON2_uc001srf.2_Nonsense_Mutation_p.E272*	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	509					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)														---	---	---	---
CAND1	55832	broad.mit.edu	37	12	67696193	67696193	+	Missense_Mutation	SNP	G	T	T	rs4255614		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:67696193G>T	uc001stn.2	+	8	1528	c.1091G>T	c.(1090-1092)AGG>ATG	p.R364M	CAND1_uc001sto.2_Missense_Mutation_p.R42M	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	TIP120 protein	364	HEAT 8.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)														---	---	---	---
CAND1	55832	broad.mit.edu	37	12	67700125	67700125	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:67700125C>T	uc001stn.2	+	10	3114	c.2677C>T	c.(2677-2679)CCG>TCG	p.P893S	CAND1_uc001sto.2_Missense_Mutation_p.P403S	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	TIP120 protein	893	HEAT 21.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)														---	---	---	---
Unknown	0	broad.mit.edu	37	12	80633160	80633160	+	IGR	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:80633160C>T								PPP1R12A (303925 upstream) : PTPRQ (204966 downstream)																																			---	---	---	---
LRRIQ1	84125	broad.mit.edu	37	12	85445956	85445956	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:85445956A>G	uc001tac.2	+	7	791	c.680A>G	c.(679-681)CAA>CGA	p.Q227R	LRRIQ1_uc001tab.1_Missense_Mutation_p.Q227R|LRRIQ1_uc001taa.1_Intron	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	227	Glu-rich.									ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)														---	---	---	---
TMPO	7112	broad.mit.edu	37	12	98938068	98938068	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:98938068C>T	uc001tfj.2	+	5	961	c.724C>T	c.(724-726)CCT>TCT	p.P242S	TMPO_uc001tfk.2_Intron|TMPO_uc001tfl.2_Intron	NM_001032283	NP_001027454	P42167	LAP2B_HUMAN	thymopoietin isoform beta	242	Nucleoplasmic (Potential).|NAKAP95-binding N.					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			ovary(2)	2																		---	---	---	---
UHRF1BP1L	23074	broad.mit.edu	37	12	100444003	100444003	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:100444003T>C	uc001tgq.2	-	17	3890	c.3661A>G	c.(3661-3663)ACA>GCA	p.T1221A	UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.T871A	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	UHRF1 (ICBP90) binding protein 1-like isoform a	1221										ovary(2)	2																		---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104089412	104089412	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:104089412C>T	uc001tjw.2	+	32	3646	c.3460C>T	c.(3460-3462)CGG>TGG	p.R1154W		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1154	Extracellular (Potential).|FAS1 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14																		---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104149134	104149134	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:104149134C>A	uc001tjw.2	+	62	6955	c.6769C>A	c.(6769-6771)CCC>ACC	p.P2257T	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	2257	Extracellular (Potential).|Link.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14																		---	---	---	---
WSCD2	9671	broad.mit.edu	37	12	108620779	108620779	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:108620779G>A	uc001tms.2	+	6	1561	c.817G>A	c.(817-819)GCA>ACA	p.A273T	WSCD2_uc001tmt.2_Missense_Mutation_p.A273T|WSCD2_uc001tmu.2_Missense_Mutation_p.A21T	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	273	WSC 2.					integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3																		---	---	---	---
WSCD2	9671	broad.mit.edu	37	12	108634185	108634185	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:108634185C>T	uc001tms.2	+	8	1953	c.1209C>T	c.(1207-1209)AGC>AGT	p.S403S	WSCD2_uc001tmt.2_Silent_p.S403S|WSCD2_uc001tmu.2_Silent_p.S151S	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	403						integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3																		---	---	---	---
FAM109A	144717	broad.mit.edu	37	12	111800836	111800836	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:111800836G>A	uc001tsd.3	-	3	787	c.396C>T	c.(394-396)GGC>GGT	p.G132G	FAM109A_uc009zvu.2_Missense_Mutation_p.A113V|FAM109A_uc001tsc.2_Silent_p.G155G	NM_144671	NP_653272	Q8N4B1	SESQ1_HUMAN	hypothetical protein LOC144717	132					endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity				0																		---	---	---	---
DTX1	1840	broad.mit.edu	37	12	113515234	113515234	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113515234A>G	uc001tuk.1	+	2	601	c.265A>G	c.(265-267)ATG>GTG	p.M89V		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	89	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																		---	---	---	---
TBX5	6910	broad.mit.edu	37	12	114841708	114841708	+	5'UTR	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:114841708C>T	uc001tvo.2	-	2					TBX5_uc001tvp.2_5'UTR|TBX5_uc001tvq.2_Intron|TBX5_uc010syv.1_5'Flank	NM_181486	NP_852259			T-box 5 isoform 1						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)														---	---	---	---
KSR2	283455	broad.mit.edu	37	12	118198971	118198971	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:118198971C>T	uc001two.2	-	4	799	c.744G>A	c.(742-744)CCG>CCA	p.P248P		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	277	Pro-rich.				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)																	---	---	---	---
HIP1R	9026	broad.mit.edu	37	12	123345340	123345340	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123345340G>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)	---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	129559129	129559129	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:129559129T>G	uc009zyl.1	-	9	2919	c.2591A>C	c.(2590-2592)AAG>ACG	p.K864T	TMEM132D_uc001uia.2_Missense_Mutation_p.K402T	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	864	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)														---	---	---	---
ULK1	8408	broad.mit.edu	37	12	132401007	132401007	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132401007G>T	uc001uje.2	+	20	2211	c.1943G>T	c.(1942-1944)CGG>CTG	p.R648L		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	648					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)														---	---	---	---
EP400	57634	broad.mit.edu	37	12	132502083	132502083	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132502083T>C	uc001ujn.2	+	19	3962	c.3927T>C	c.(3925-3927)ACT>ACC	p.T1309T	EP400_uc001ujl.2_Silent_p.T1308T|EP400_uc001ujm.2_Silent_p.T1309T	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1345	Interactions with RUVBL1 and RUVBL2.				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)														---	---	---	---
PGAM5	192111	broad.mit.edu	37	12	133294630	133294630	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133294630G>A	uc009zyv.2	+	5	670	c.643G>A	c.(643-645)GCA>ACA	p.A215T	PGAM5_uc010tbr.1_RNA|PGAM5_uc001uku.2_Missense_Mutation_p.A215T	NM_138575	NP_612642	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	215						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	133313524	133313524	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133313524C>T	uc001ukx.2	-	8	1615	c.1548G>A	c.(1546-1548)CCG>CCA	p.P516P	ANKLE2_uc009zyw.1_5'Flank|ANKLE2_uc001uky.3_Silent_p.P454P	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	516						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)														---	---	---	---
MPHOSPH8	54737	broad.mit.edu	37	13	20221438	20221438	+	Intron	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:20221438G>T	uc001umh.2	+						MPHOSPH8_uc001umf.1_Missense_Mutation_p.A409S|MPHOSPH8_uc001umg.2_Intron|MPHOSPH8_uc001umi.2_Intron	NM_017520	NP_059990			M-phase phosphoprotein 8						cell cycle	cytoplasm|nucleus					0		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)														---	---	---	---
CRYL1	51084	broad.mit.edu	37	13	21006389	21006389	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:21006389G>A	uc001une.2	-	5	564	c.485C>T	c.(484-486)CCG>CTG	p.P162L	CRYL1_uc001unf.2_Missense_Mutation_p.P140L|CRYL1_uc001ung.2_Missense_Mutation_p.P140L|CRYL1_uc010tcp.1_Missense_Mutation_p.P36L	NM_015974	NP_057058	Q9Y2S2	CRYL1_HUMAN	lambda-crystallin	162					fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity				0		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)														---	---	---	---
LATS2	26524	broad.mit.edu	37	13	21562308	21562308	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:21562308G>A	uc009zzs.2	-	4	1976	c.1611C>T	c.(1609-1611)TGC>TGT	p.C537C	LATS2_uc001unr.3_Silent_p.C537C	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	537					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)														---	---	---	---
FGF9	2254	broad.mit.edu	37	13	22246092	22246092	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:22246092A>G	uc001uog.2	+	1	878	c.41A>G	c.(40-42)CAG>CGG	p.Q14R		NM_002010	NP_002001	P31371	FGF9_HUMAN	fibroblast growth factor 9 precursor	14					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	23907766	23907766	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:23907766T>G	uc001uon.2	-	10	10838	c.10249A>C	c.(10249-10251)AGT>CGT	p.S3417R	SACS_uc001uoo.2_Missense_Mutation_p.S3270R|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3417					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)														---	---	---	---
SACS	26278	broad.mit.edu	37	13	23911305	23911305	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:23911305T>C	uc001uon.2	-	10	7299	c.6710A>G	c.(6709-6711)GAA>GGA	p.E2237G	SACS_uc001uoo.2_Missense_Mutation_p.E2090G|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2237					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)														---	---	---	---
PARP4	143	broad.mit.edu	37	13	25009030	25009030	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25009030G>A	uc001upl.2	-	31	4355	c.4249C>T	c.(4249-4251)CCT>TCT	p.P1417S		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1417					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)														---	---	---	---
RNF17	56163	broad.mit.edu	37	13	25399909	25399909	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25399909C>T	uc001upr.2	+	16	2285	c.2244C>T	c.(2242-2244)ATC>ATT	p.I748I	RNF17_uc010tdd.1_Silent_p.I607I|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Silent_p.I748I|RNF17_uc001ups.2_Silent_p.I687I	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	748	Tudor 1.				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	25484117	25484117	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25484117G>A	uc001upt.3	-	4	929	c.676C>T	c.(676-678)CCA>TCA	p.P226S	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	226					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)														---	---	---	---
PAN3	255967	broad.mit.edu	37	13	28750707	28750707	+	Intron	SNP	A	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28750707A>T	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)														---	---	---	---
FRY	10129	broad.mit.edu	37	13	32783063	32783063	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32783063G>A	uc001utx.2	+	32	4588	c.4092G>A	c.(4090-4092)CTG>CTA	p.L1364L	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1364					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	32931894	32931894	+	Missense_Mutation	SNP	G	A	A	rs80358990		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32931894G>A	uc001uub.1	+	16	7860	c.7633G>A	c.(7633-7635)GTT>ATT	p.V2545I		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2545	Interaction with FANCD2.				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)			---	---	---	---
RFC3	5983	broad.mit.edu	37	13	34404030	34404030	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:34404030G>A	uc001uuz.2	+	5	559	c.449G>A	c.(448-450)AGA>AAA	p.R150K	RFC3_uc001uva.2_Missense_Mutation_p.R150K|RFC3_uc010ted.1_Missense_Mutation_p.R150K	NM_002915	NP_002906	P40938	RFC3_HUMAN	replication factor C 3 isoform 1	150					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	35923259	35923259	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:35923259C>T	uc001uvb.2	+	37	6124	c.5918C>T	c.(5917-5919)GCT>GTT	p.A1973V	NBEA_uc010abi.2_Missense_Mutation_p.A629V	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	1973						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)														---	---	---	---
CCNA1	8900	broad.mit.edu	37	13	37012857	37012857	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:37012857A>T	uc001uvr.3	+	5	1096	c.746A>T	c.(745-747)GAC>GTC	p.D249V	CCNA1_uc010teo.1_Missense_Mutation_p.D205V|CCNA1_uc010abq.2_Missense_Mutation_p.D205V|CCNA1_uc010abp.2_Missense_Mutation_p.D205V|CCNA1_uc001uvs.3_Missense_Mutation_p.D248V|CCNA1_uc010abr.2_Intron	NM_003914	NP_003905	P78396	CCNA1_HUMAN	cyclin A1 isoform a	249					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			lung(2)|skin(2)|ovary(1)	5		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;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)														---	---	---	---
TRPC4	7223	broad.mit.edu	37	13	38213170	38213170	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:38213170T>C	uc001uws.2	-						TRPC4_uc010abv.2_Intron|TRPC4_uc001uwt.2_Intron|TRPC4_uc010tey.1_Intron|TRPC4_uc010abw.2_Intron|TRPC4_uc010abx.2_Intron|TRPC4_uc010aby.2_Intron	NM_016179	NP_057263			transient receptor potential cation channel,						axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)														---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39262365	39262365	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:39262365G>T	uc001uwv.2	+	1	1193	c.884G>T	c.(883-885)AGC>ATC	p.S295I		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	295	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	39264188	39264188	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:39264188G>T	uc001uwv.2	+	1	3016	c.2707G>T	c.(2707-2709)GCC>TCC	p.A903S		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	903	CSPG 5.|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)														---	---	---	---
KIAA0564	23078	broad.mit.edu	37	13	42149928	42149928	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:42149928A>G	uc001uyj.2	-	43	5388	c.5318T>C	c.(5317-5319)GTT>GCT	p.V1773A		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	1773	VWFA.					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)														---	---	---	---
DNAJC15	29103	broad.mit.edu	37	13	43652796	43652796	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:43652796C>T	uc001uyy.2	+	4	684	c.283C>T	c.(283-285)CGA>TGA	p.R95*		NM_013238	NP_037370	Q9Y5T4	DJC15_HUMAN	DNAJ domain-containing	95						integral to membrane	heat shock protein binding				0		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)														---	---	---	---
SIAH3	283514	broad.mit.edu	37	13	46357608	46357608	+	Silent	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46357608C>A	uc001vap.2	-	2	802	c.720G>T	c.(718-720)TCG>TCT	p.S240S		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	seven in absentia homolog 3	240					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			ovary(1)|skin(1)	2																		---	---	---	---
RCBTB2	1102	broad.mit.edu	37	13	49084818	49084818	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:49084818A>G	uc001vch.2	-	10	1244	c.873T>C	c.(871-873)ACT>ACC	p.T291T	RCBTB2_uc010tgg.1_Silent_p.T296T|RCBTB2_uc001vci.2_Silent_p.T267T|RCBTB2_uc010tgh.1_Intron|RCBTB2_uc001vcj.2_Intron|RCBTB2_uc010acv.1_RNA|RCBTB2_uc010tgi.1_Intron	NM_001268	NP_001259	O95199	RCBT2_HUMAN	regulator of chromosome condensation and BTB	291	RCC1 5.						Ran guanyl-nucleotide exchange factor activity			ovary(2)|lung(2)|skin(1)	5		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)														---	---	---	---
THSD1	55901	broad.mit.edu	37	13	52951775	52951775	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:52951775G>T	uc001vgo.2	-	5	2875	c.2330C>A	c.(2329-2331)CCC>CAC	p.P777H	THSD1_uc001vgp.2_Missense_Mutation_p.P724H|THSD1_uc010tgz.1_Missense_Mutation_p.P398H|THSD1_uc010aea.2_Missense_Mutation_p.P238H	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	777	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)														---	---	---	---
PCDH9	5101	broad.mit.edu	37	13	66878841	66878841	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:66878841C>T	uc001vik.2	-	5	4352	c.3660G>A	c.(3658-3660)AAG>AAA	p.K1220K	PCDH9_uc010aei.2_RNA|PCDH9_uc001vil.2_Silent_p.K1186K|PCDH9_uc010thl.1_Silent_p.K1178K	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	1220	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)														---	---	---	---
PCDH9	5101	broad.mit.edu	37	13	67799528	67799528	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:67799528C>T	uc001vik.2	-						PCDH9_uc001vil.2_Intron|PCDH9_uc010thl.1_Intron|PCDH9_uc001vin.3_Silent_p.E1015E	NM_203487	NP_982354			protocadherin 9 isoform 1 precursor						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)														---	---	---	---
SLITRK1	114798	broad.mit.edu	37	13	84453981	84453981	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:84453981G>A	uc001vlk.2	-	1	2548	c.1662C>T	c.(1660-1662)AGC>AGT	p.S554S		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	554	LRRCT 2.|Extracellular (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)														---	---	---	---
DNAJC3	5611	broad.mit.edu	37	13	96443251	96443251	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:96443251C>T	uc001vmq.2	+	12	1590	c.1482C>T	c.(1480-1482)GGC>GGT	p.G494G	DNAJC3_uc001vmr.2_Silent_p.G443G	NM_006260	NP_006251	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	494					protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding				0	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)															---	---	---	---
UGGT2	55757	broad.mit.edu	37	13	96484958	96484958	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:96484958T>C	uc001vmt.2	-						UGGT2_uc001vms.2_Intron	NM_020121	NP_064506			UDP-glucose ceramide glucosyltransferase-like 2						post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
STK24	8428	broad.mit.edu	37	13	99134531	99134531	+	Silent	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:99134531G>T	uc001vnm.1	-	3	589	c.354C>A	c.(352-354)TCC>TCA	p.S118S	STK24_uc001vnn.1_Silent_p.S106S|STK24_uc010tim.1_Intron	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24 isoform a	118	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)															---	---	---	---
MYO16	23026	broad.mit.edu	37	13	109707413	109707413	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:109707413C>T	uc001vqt.1	+	26	3128	c.3002C>T	c.(3001-3003)ACT>ATT	p.T1001I	MYO16_uc010agk.1_Missense_Mutation_p.T1023I|MYO16_uc001vqu.1_Missense_Mutation_p.T801I|MYO16_uc010tjh.1_Missense_Mutation_p.T513I	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1001	Myosin head-like 2.				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)															---	---	---	---
IRS2	8660	broad.mit.edu	37	13	110438061	110438061	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:110438061C>T	uc001vqv.2	-	1	854	c.340G>A	c.(340-342)GCC>ACC	p.A114T		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	114	PH.				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)															---	---	---	---
COL4A1	1282	broad.mit.edu	37	13	110804777	110804777	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:110804777G>A	uc001vqw.3	-	51	4954	c.4832C>T	c.(4831-4833)GCG>GTG	p.A1611V	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1611	Collagen IV NC1.				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)															---	---	---	---
CARS2	79587	broad.mit.edu	37	13	111329449	111329449	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:111329449C>T	uc001vrd.2	-	7	697	c.657G>A	c.(655-657)GCG>GCA	p.A219A	CARS2_uc010tjm.1_RNA	NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial	219				LVGVVPGPVGEPADSDK -> IGRRGPWSSPETSGLLTS (in Ref. 4; BAB93499).	cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding				0	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)													---	---	---	---
MCF2L	23263	broad.mit.edu	37	13	113729379	113729379	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:113729379C>T	uc001vsu.2	+	11	1377	c.1355C>T	c.(1354-1356)GCG>GTG	p.A452V	MCF2L_uc001vsq.2_Missense_Mutation_p.A452V|MCF2L_uc010tjr.1_Missense_Mutation_p.A395V|MCF2L_uc001vsr.2_Missense_Mutation_p.A399V|MCF2L_uc001vss.3_Missense_Mutation_p.A393V|MCF2L_uc010tjs.1_Missense_Mutation_p.A393V|MCF2L_uc001vst.1_Missense_Mutation_p.A357V	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	425	Spectrin.				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)																---	---	---	---
MCF2L	23263	broad.mit.edu	37	13	113748914	113748914	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:113748914G>A	uc001vsu.2	+	27	3233	c.3211G>A	c.(3211-3213)GCA>ACA	p.A1071T	MCF2L_uc001vsq.2_Missense_Mutation_p.A1071T|MCF2L_uc010tjr.1_Missense_Mutation_p.A1014T|MCF2L_uc001vsr.2_Missense_Mutation_p.A1018T|MCF2L_uc010tjs.1_Missense_Mutation_p.A1012T	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	1044					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	113768258	113768258	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:113768258C>T	uc001vsv.2	+	5	465	c.414C>T	c.(412-414)GGC>GGT	p.G138G	F7_uc010agp.1_Silent_p.G131G|F7_uc001vsw.2_Silent_p.G116G|F7_uc010tjt.1_Silent_p.G69G	NM_000131	NP_000122	P08709	FA7_HUMAN	coagulation factor VII isoform a precursor	138	EGF-like 1; calcium-binding (Potential).		G -> D (in FA7D).		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)													---	---	---	---
TMCO3	55002	broad.mit.edu	37	13	114203860	114203860	+	3'UTR	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:114203860G>T	uc001vtu.3	+	13						NM_017905	NP_060375			transmembrane and coiled-coil domains 3							integral to membrane	solute:hydrogen antiporter activity				0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)															---	---	---	---
UPF3A	65110	broad.mit.edu	37	13	115048366	115048366	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:115048366C>T	uc001vup.2	+	3	406	c.369C>T	c.(367-369)GAC>GAT	p.D123D	UPF3A_uc010tkn.1_Silent_p.D123D|UPF3A_uc001vuq.2_Silent_p.D123D|UPF3A_uc001vus.2_Intron|UPF3A_uc001vur.2_RNA	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A	123	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			skin(1)	1	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)														---	---	---	---
OR4K13	390433	broad.mit.edu	37	14	20502927	20502927	+	5'Flank	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20502927T>G	uc010tkz.1	-							NM_001004714	NP_001004714			olfactory receptor, family 4, subfamily K,						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)														---	---	---	---
RPGRIP1	57096	broad.mit.edu	37	14	21813344	21813344	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21813344C>A	uc001wag.2	+	22	3605	c.3605C>A	c.(3604-3606)CCT>CAT	p.P1202H	RPGRIP1_uc001wah.2_Missense_Mutation_p.P844H|RPGRIP1_uc001wai.2_Missense_Mutation_p.P528H|RPGRIP1_uc001wak.2_Missense_Mutation_p.P677H|RPGRIP1_uc010aim.2_Missense_Mutation_p.P585H|RPGRIP1_uc001wal.2_Missense_Mutation_p.P561H|RPGRIP1_uc001wam.2_Missense_Mutation_p.P519H	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator	1202	Interaction with RPGR.				response to stimulus|visual perception	cilium				ovary(4)|breast(2)|pancreas(1)	7	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)														---	---	---	---
CHD8	57680	broad.mit.edu	37	14	21876666	21876666	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21876666C>T	uc001was.1	-	13	1792	c.1698G>A	c.(1696-1698)CAG>CAA	p.Q566Q	CHD8_uc001war.1_Silent_p.Q462Q|CHD8_uc001wav.1_Silent_p.Q8Q	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	845	Helicase ATP-binding.				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)														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22891861	22891861	+	Intron	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22891861G>T	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|uc001wds.1_Intron|uc001wdv.3_Missense_Mutation_p.R58M|uc001wdt.1_Intron|uc001wdu.2_Missense_Mutation_p.R58M					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
RBM23	55147	broad.mit.edu	37	14	23374320	23374320	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23374320T>C	uc001whg.2	-	8	908	c.709A>G	c.(709-711)ATT>GTT	p.I237V	RBM23_uc001whh.2_Missense_Mutation_p.I221V|RBM23_uc001whi.2_Missense_Mutation_p.I203V|RBM23_uc010tne.1_Missense_Mutation_p.I67V|RBM23_uc001whj.2_5'UTR|RBM23_uc001whk.1_Missense_Mutation_p.I237V	NM_001077351	NP_001070819	Q86U06	RBM23_HUMAN	RNA binding motif protein 23 isoform 1	237	RRM 1.				mRNA processing	nucleus	nucleotide binding|RNA binding			skin(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)														---	---	---	---
HAUS4	54930	broad.mit.edu	37	14	23416890	23416890	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23416890C>T	uc001whp.2	-	7	790	c.759G>A	c.(757-759)CGG>CGA	p.R253R	HAUS4_uc001who.2_RNA|HAUS4_uc001whq.2_Silent_p.R127R|HAUS4_uc001whr.2_Silent_p.R253R|HAUS4_uc001whs.2_Silent_p.R208R|HAUS4_uc001wht.2_Silent_p.R253R|HAUS4_uc001whu.2_Silent_p.R208R|HAUS4_uc001whv.2_Silent_p.R129R|HAUS4_uc001whw.2_Silent_p.R253R|HAUS4_uc001whx.2_Silent_p.R208R	NM_017815	NP_060285	Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	253					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				ovary(1)	1																		---	---	---	---
MYH7	4625	broad.mit.edu	37	14	23897852	23897852	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23897852T>C	uc001wjx.2	-	15	1541	c.1435A>G	c.(1435-1437)AAC>GAC	p.N479D		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	479	Myosin head-like.		N -> S (in CMH1).		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)														---	---	---	---
GMPR2	51292	broad.mit.edu	37	14	24707977	24707977	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24707977C>T	uc001wnr.2	+	10	1422	c.1040C>T	c.(1039-1041)GCG>GTG	p.A347V	GMPR2_uc001wnv.2_Missense_Mutation_p.A184V|GMPR2_uc001wns.2_Missense_Mutation_p.A347V|GMPR2_uc001wnt.2_Missense_Mutation_p.A314V|GMPR2_uc001wnu.2_Missense_Mutation_p.A372V|GMPR2_uc001wnw.2_Missense_Mutation_p.A347V|GMPR2_uc010all.2_Missense_Mutation_p.A319V|GMPR2_uc001wnx.2_Missense_Mutation_p.A365V|GMPR2_uc010tod.1_Missense_Mutation_p.A314V|GMPR2_uc010alk.1_Missense_Mutation_p.A408V|GMPR2_uc010toe.1_Missense_Mutation_p.A408V	NM_001002001	NP_001002001	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2 isoform 2	347					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)														---	---	---	---
CIDEB	27141	broad.mit.edu	37	14	24774855	24774855	+	Missense_Mutation	SNP	C	T	T	rs146066890		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24774855C>T	uc001won.2	-	5	768	c.644G>A	c.(643-645)CGC>CAC	p.R215H	CIDEB_uc001woo.2_Missense_Mutation_p.R215H|CIDEB_uc001wop.2_Missense_Mutation_p.R215H	NM_014430	NP_055245	Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b	215					apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis	cytosol					0				GBM - Glioblastoma multiforme(265;0.0181)														---	---	---	---
CBLN3	643866	broad.mit.edu	37	14	24897594	24897594	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24897594G>A	uc001wpg.3	-	2	789	c.318C>T	c.(316-318)GGC>GGT	p.G106G	KHNYN_uc010tpc.1_5'Flank|KHNYN_uc001wph.3_5'Flank|KHNYN_uc010alw.2_5'Flank	NM_001039771	NP_001034860	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	106	Necessary for interaction with CBLN3, and homotrimerization (By similarity).|C1q.					cell junction|extracellular region|synapse				central_nervous_system(1)	1				GBM - Glioblastoma multiforme(265;0.00159)														---	---	---	---
FOXG1	2290	broad.mit.edu	37	14	29237255	29237255	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:29237255T>C	uc001wqe.2	+	1	969	c.770T>C	c.(769-771)CTG>CCG	p.L257P		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	257	Fork-head.				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue 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			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)														---	---	---	---
AKAP6	9472	broad.mit.edu	37	14	33293172	33293172	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:33293172C>T	uc001wrq.2	+	13	6323	c.6153C>T	c.(6151-6153)GCC>GCT	p.A2051A		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	2051					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)														---	---	---	---
MIPOL1	145282	broad.mit.edu	37	14	37969313	37969313	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:37969313C>T	uc001wuc.2	+	13	1735	c.1232C>T	c.(1231-1233)GCC>GTC	p.A411V	MIPOL1_uc010amr.2_RNA|MIPOL1_uc001wub.3_Missense_Mutation_p.A380V|MIPOL1_uc001wud.2_Missense_Mutation_p.A411V|MIPOL1_uc010ams.2_Missense_Mutation_p.A411V|MIPOL1_uc001wue.2_Missense_Mutation_p.A380V|MIPOL1_uc010amt.2_Missense_Mutation_p.A230V	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	411	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)														---	---	---	---
C14orf106	55320	broad.mit.edu	37	14	45693641	45693641	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45693641G>A	uc001wwf.2	-	11	2608	c.2149C>T	c.(2149-2151)CGT>TGT	p.R717C		NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106	717					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0																		---	---	---	---
MGAT2	4247	broad.mit.edu	37	14	50088877	50088877	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:50088877T>A	uc001wwr.2	+	1	1389	c.891T>A	c.(889-891)AGT>AGA	p.S297R	SDCCAG1_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank	NM_002408	NP_002399	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein	297	Lumenal (Potential).				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity				0	all_epithelial(31;0.0021)|Breast(41;0.0124)																	---	---	---	---
MAP4K5	11183	broad.mit.edu	37	14	50911877	50911877	+	Silent	SNP	C	T	T	rs75696839	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:50911877C>T	uc001wya.2	-	18	1541	c.1221G>A	c.(1219-1221)CCG>CCA	p.P407P	MAP4K5_uc001wyb.2_Silent_p.P407P|MAP4K5_uc010anv.1_Silent_p.P407P|MAP4K5_uc001wyc.1_Silent_p.P81P	NM_006575	NP_006566	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase	407					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	51237224	51237224	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:51237224T>C	uc001wym.2	-	12	1507	c.1316A>G	c.(1315-1317)AAA>AGA	p.K439R	NIN_uc001wyi.2_Missense_Mutation_p.K439R|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.K439R|NIN_uc010tqp.1_Missense_Mutation_p.K445R|NIN_uc001wyo.2_Missense_Mutation_p.K439R|NIN_uc001wyp.1_Missense_Mutation_p.K401R	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	439	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								---	---	---	---
CDKN3	1033	broad.mit.edu	37	14	54884554	54884554	+	Intron	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:54884554A>G	uc001xap.2	+						CDKN3_uc001xar.2_Intron|CDKN3_uc001xaq.2_Intron|CDKN3_uc001xas.1_Intron|CDKN3_uc010aoj.1_Intron	NM_005192	NP_005183			cyclin-dependent kinase inhibitor 3 isoform 1						cell cycle arrest|G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	perinuclear region of cytoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0																		---	---	---	---
CDKN3	1033	broad.mit.edu	37	14	54886793	54886793	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:54886793A>G	uc001xap.2	+	8	750	c.636A>G	c.(634-636)AGA>AGG	p.R212R	CDKN3_uc001xar.2_Silent_p.R172R|CDKN3_uc001xaq.2_Silent_p.R211R|CDKN3_uc001xas.1_RNA|CDKN3_uc010aoj.1_RNA	NM_005192	NP_005183	Q16667	CDKN3_HUMAN	cyclin-dependent kinase inhibitor 3 isoform 1	212					cell cycle arrest|G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	perinuclear region of cytoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0																		---	---	---	---
DAAM1	23002	broad.mit.edu	37	14	59821946	59821946	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:59821946T>C	uc001xdz.1	+	21	2575	c.2450T>C	c.(2449-2451)GTT>GCT	p.V817A	DAAM1_uc001xea.1_Missense_Mutation_p.V807A|DAAM1_uc001xec.1_RNA	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	dishevelled-associated activator of	817	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.165)														---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64519852	64519852	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:64519852A>G	uc001xgm.2	+	48	9451	c.9221A>G	c.(9220-9222)GAT>GGT	p.D3074G	SYNE2_uc001xgl.2_Missense_Mutation_p.D3074G|SYNE2_uc010apw.1_5'Flank	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3074	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)														---	---	---	---
MTHFD1	4522	broad.mit.edu	37	14	64908801	64908801	+	Silent	SNP	G	A	A	rs143959060	byFrequency	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:64908801G>A	uc001xhb.2	+	20	2301	c.1914G>A	c.(1912-1914)CCG>CCA	p.P638P	MTHFD1_uc010aqf.2_Silent_p.P694P	NM_005956	NP_005947	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase 1	638	Formyltetrahydrofolate synthetase.				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)													---	---	---	---
ACTN1	87	broad.mit.edu	37	14	69358883	69358883	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:69358883G>A	uc001xkl.2	-	10	1283	c.973C>T	c.(973-975)CCG>TCG	p.P325S	ACTN1_uc010ttb.1_Missense_Mutation_p.P260S|ACTN1_uc001xkm.2_Missense_Mutation_p.P325S|ACTN1_uc001xkn.2_Missense_Mutation_p.P325S|ACTN1_uc001xko.1_Missense_Mutation_p.P260S|ACTN1_uc010ttd.1_Missense_Mutation_p.P304S	NM_001102	NP_001093	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform b	325	Spectrin 1.|Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)														---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71443908	71443908	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:71443908G>A	uc001xmo.2	+	6	1300	c.854G>A	c.(853-855)CGG>CAG	p.R285Q	PCNX_uc001xmn.3_Missense_Mutation_p.R285Q|PCNX_uc010are.1_Missense_Mutation_p.R285Q	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	285						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)														---	---	---	---
DLST	1743	broad.mit.edu	37	14	75349290	75349290	+	Intron	SNP	A	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75349290A>T	uc001xqv.2	+						DLST_uc001xqu.2_Intron|DLST_uc001xqt.2_Intron|DLST_uc010tuw.1_Intron|DLST_uc010tuu.1_Intron|DLST_uc001xqs.2_Intron|DLST_uc010tuv.1_Intron	NM_001933	NP_001924			dihydrolipoamide S-succinyltransferase (E2						lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00698)														---	---	---	---
FAM164C	79696	broad.mit.edu	37	14	75537988	75537988	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75537988C>T	uc001xri.2	+	2	885	c.712C>T	c.(712-714)CTG>TTG	p.L238L	FAM164C_uc001xrh.2_Silent_p.L238L	NM_001042430	NP_001035895	Q53FD0	F164C_HUMAN	chromosome 14 open reading frame 140 isoform b	238	Potential.									ovary(1)	1																		---	---	---	---
VASH1	22846	broad.mit.edu	37	14	77242266	77242266	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:77242266C>T	uc001xst.2	+	5	1492	c.562C>T	c.(562-564)CGC>TGC	p.R188C		NM_014909	NP_055724	Q7L8A9	VASH1_HUMAN	vasohibin 1	188					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)														---	---	---	---
POMT2	29954	broad.mit.edu	37	14	77745128	77745128	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:77745128C>T	uc001xti.2	-	19	2177	c.1976G>A	c.(1975-1977)CGG>CAG	p.R659Q	POMT2_uc001xth.1_Missense_Mutation_p.R357Q	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	659	Helical; (Potential).				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)														---	---	---	---
CALM1	801	broad.mit.edu	37	14	90870757	90870757	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:90870757G>A	uc001xyl.1	+	5	522	c.320G>A	c.(319-321)CGT>CAT	p.R107H	CALM1_uc010atq.1_Missense_Mutation_p.R108H|CALM1_uc010atr.1_RNA|CALM1_uc001xym.1_Missense_Mutation_p.R71H	NM_006888	NP_008819	P62158	CALM_HUMAN	calmodulin 1 isoform 1	107	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			central_nervous_system(1)	1		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	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)													---	---	---	---
GPR68	8111	broad.mit.edu	37	14	91700767	91700767	+	Missense_Mutation	SNP	G	A	A	rs146326486		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:91700767G>A	uc001xzg.2	-	2	969	c.628C>T	c.(628-630)CGC>TGC	p.R210C	GPR68_uc001xzh.2_Missense_Mutation_p.R220C	NM_003485	NP_003476	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	210	Cytoplasmic (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)														---	---	---	---
FAM181A	90050	broad.mit.edu	37	14	94394712	94394712	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:94394712G>A	uc001ybz.1	+	3	574	c.267G>A	c.(265-267)AAG>AAA	p.K89K	C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Silent_p.K27K|FAM181A_uc001yca.1_Silent_p.K27K	NM_138344	NP_612353	Q8N9Y4	F181A_HUMAN	hypothetical protein LOC90050	89											0																		---	---	---	---
SERPINA9	327657	broad.mit.edu	37	14	94933480	94933480	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:94933480T>C	uc001ydf.2	-	3	1083	c.922A>G	c.(922-924)ACA>GCA	p.T308A	SERPINA9_uc001yde.2_Missense_Mutation_p.T208A|SERPINA9_uc010avc.2_Missense_Mutation_p.T159A|SERPINA9_uc001ydg.2_Missense_Mutation_p.T272A|SERPINA9_uc001ydh.1_Missense_Mutation_p.T308A|SERPINA9_uc001ydi.1_Missense_Mutation_p.T272A	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	serine (or cysteine) proteinase inhibitor, clade	290					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			lung(1)|central_nervous_system(1)	2		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)														---	---	---	---
GSC	145258	broad.mit.edu	37	14	95234924	95234924	+	Silent	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:95234924C>A	uc001ydu.2	-	3	825	c.678G>T	c.(676-678)TCG>TCT	p.S226S		NM_173849	NP_776248	P56915	GSC_HUMAN	goosecoid	226					gastrulation|middle ear morphogenesis		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(154;0.0896)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)														---	---	---	---
KLC1	3831	broad.mit.edu	37	14	104135937	104135937	+	Splice_Site	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:104135937T>G	uc001yno.2	+	6	1193	c.885_splice	c.e6+2	p.A295_splice	KLC1_uc010tyd.1_Splice_Site_p.A454_splice|KLC1_uc010tye.1_Splice_Site_p.A291_splice|KLC1_uc001ynm.1_Splice_Site_p.A295_splice|KLC1_uc001ynn.1_Splice_Site_p.A289_splice|KLC1_uc010tyf.1_Splice_Site_p.A295_splice	NM_182923	NP_891553			kinesin light chain 1 isoform 2						blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0		Melanoma(154;0.155)|all_epithelial(191;0.19)																---	---	---	---
INF2	64423	broad.mit.edu	37	14	105169515	105169515	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105169515C>T	uc001ypb.2	+	3	608	c.465C>T	c.(463-465)CCC>CCT	p.P155P	INF2_uc010tyi.1_Silent_p.P155P|INF2_uc001ypc.2_Silent_p.P155P|INF2_uc001yoy.3_Silent_p.P155P|INF2_uc001ypa.2_Silent_p.P155P	NM_022489	NP_071934	Q27J81	INF2_HUMAN	inverted formin 2 isoform 1	155	GBD/FH3.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding				0		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)														---	---	---	---
AKT1	207	broad.mit.edu	37	14	105246551	105246551	+	Missense_Mutation	SNP	C	T	T	rs34409589		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105246551C>T	uc001ypk.2	-	3	603	c.49G>A	c.(49-51)GAG>AAG	p.E17K	INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_Missense_Mutation_p.E17K|AKT1_uc010axa.2_Missense_Mutation_p.E17K|AKT1_uc001ypm.2_Missense_Mutation_p.E17K|AKT1_uc001ypn.2_Missense_Mutation_p.E17K|AKT1_uc010tyk.1_5'Flank	NM_005163	NP_005154	P31749	AKT1_HUMAN	AKT1 kinase	17	PH.		E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane).	E->K: Increase in basal ubiquitination, phosphorylation at T-308 and important increase in membrane recruitment. Decrease in ubiquitination, phosphorylation at T-308 as well as impaired association with the membrane; when associated with R-8.	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	p.E17K(126)		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)	E17K(KU1919_URINARY_TRACT)	1	Mis		breast|colorectal|ovarian|NSCLC								---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106173776	106173776	+	RNA	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106173776C>T	uc010tyt.1	-	3633		c.60122G>A			uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001ysc.2_5'Flank					Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106174708	106174708	+	RNA	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106174708C>T	uc010tyt.1	-	3631		c.59626G>A			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	106641590	106641590	+	RNA	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106641590G>A	uc010tyt.1	-	1021		c.24411C>T								Parts of antibodies, mostly variable regions.												0																		---	---	---	---
NDN	4692	broad.mit.edu	37	15	23931740	23931740	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23931740C>T	uc001ywk.2	-	1	711	c.625G>A	c.(625-627)GCC>ACC	p.A209T		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	209	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				---	---	---	---
SNORD116-4	100033416	broad.mit.edu	37	15	25351699	25351699	+	Intron	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25351699T>G	uc001yxh.1	+						SNORD116-4_uc001yxm.1_Intron|IPW_uc001yxn.3_Intron|SNORD116-28_uc001yxy.2_Intron|IPW_uc001yyb.3_Intron|uc001yyd.2_Intron|SNORD116-29_uc001yyo.2_RNA					Homo sapiens clone kid4 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.												0																		---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	25926148	25926148	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25926148G>T	uc010ayu.2	-	18	3672	c.3566C>A	c.(3565-3567)CCT>CAT	p.P1189H		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1189	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)														---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34133087	34133087	+	Intron	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34133087A>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)														---	---	---	---
SLC12A6	9990	broad.mit.edu	37	15	34543198	34543198	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34543198G>T	uc001zhw.2	-	10	1558	c.1394C>A	c.(1393-1395)TCT>TAT	p.S465Y	SLC12A6_uc001zhv.2_Missense_Mutation_p.S414Y|SLC12A6_uc001zhx.2_Missense_Mutation_p.S450Y|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.S406Y|SLC12A6_uc001zib.2_Missense_Mutation_p.S456Y|SLC12A6_uc001zic.2_Missense_Mutation_p.S465Y|SLC12A6_uc010bau.2_Missense_Mutation_p.S465Y|SLC12A6_uc001zid.2_Missense_Mutation_p.S406Y|SLC12A6_uc001zht.2_5'Flank|SLC12A6_uc001zhu.2_Missense_Mutation_p.S277Y	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	465	Cytoplasmic (Potential).				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)													---	---	---	---
THBS1	7057	broad.mit.edu	37	15	39874463	39874463	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:39874463G>A	uc001zkh.2	+	3	316	c.137G>A	c.(136-138)CGC>CAC	p.R46H		NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor	46	TSP N-terminal.				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)													---	---	---	---
GCHFR	2644	broad.mit.edu	37	15	41059498	41059498	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41059498G>T	uc001zmr.1	+	3	300	c.206G>T	c.(205-207)AGC>ATC	p.S69I	GCHFR_uc010ucr.1_Missense_Mutation_p.S58I|C15orf62_uc010bby.2_5'Flank	NM_005258	NP_005249	P30047	GFRP_HUMAN	GTP cyclohydrolase I feedback regulatory	69					negative regulation of biosynthetic process|neurotransmitter metabolic process|nitric oxide biosynthetic process	cytosol|dendrite|melanosome|nuclear membrane				ovary(1)	1		all_cancers(109;3.3e-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;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)														---	---	---	---
MGA	23269	broad.mit.edu	37	15	42040995	42040995	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42040995T>C	uc010ucy.1	+	16	5554	c.5373T>C	c.(5371-5373)CCT>CCC	p.P1791P	MGA_uc010ucz.1_Silent_p.P1582P|MGA_uc010uda.1_Silent_p.P407P|MGA_uc001zoi.2_Silent_p.P5P	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						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	42041014	42041014	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42041014A>G	uc010ucy.1	+	16	5573	c.5392A>G	c.(5392-5394)ATG>GTG	p.M1798V	MGA_uc010ucz.1_Missense_Mutation_p.M1589V|MGA_uc010uda.1_Missense_Mutation_p.M414V|MGA_uc001zoi.2_Missense_Mutation_p.M12V	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						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)														---	---	---	---
MAPKBP1	23005	broad.mit.edu	37	15	42110261	42110261	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42110261T>C	uc001zok.3	+	18	2263	c.1977T>C	c.(1975-1977)GGT>GGC	p.G659G	MAPKBP1_uc001zoj.3_Silent_p.G653G|MAPKBP1_uc010bcj.2_Silent_p.G160G|MAPKBP1_uc010bci.2_Silent_p.G653G|MAPKBP1_uc010udb.1_Silent_p.G492G|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Silent_p.G160G	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	659	WD 11.									central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)														---	---	---	---
PLA2G4D	283748	broad.mit.edu	37	15	42364044	42364044	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42364044G>A	uc001zox.2	-	15	1596	c.1501C>T	c.(1501-1503)CTC>TTC	p.L501F		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD	501	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			large_intestine(1)|skin(1)	2		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)														---	---	---	---
TMEM87A	25963	broad.mit.edu	37	15	42529648	42529648	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42529648G>A	uc010udd.1	-	9	1009	c.850C>T	c.(850-852)CGA>TGA	p.R284*	TMEM87A_uc001zpf.3_Nonsense_Mutation_p.R223*|TMEM87A_uc010bcu.1_Nonsense_Mutation_p.R223*	NM_015497	NP_056312	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A isoform 1	284						integral to membrane				ovary(1)	1		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)														---	---	---	---
CDAN1	146059	broad.mit.edu	37	15	43025362	43025362	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43025362G>A	uc001zql.2	-	9	1507	c.1390C>T	c.(1390-1392)CGA>TGA	p.R464*	CDAN1_uc001zqj.2_5'Flank|CDAN1_uc001zqk.2_5'UTR|CDAN1_uc010bcx.1_RNA	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	464						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)														---	---	---	---
ZSCAN29	146050	broad.mit.edu	37	15	43662097	43662097	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43662097T>C	uc001zrk.1	-	1	162	c.15A>G	c.(13-15)TCA>TCG	p.S5S	ZSCAN29_uc001zrj.1_5'Flank|ZSCAN29_uc010bdf.1_Silent_p.S4S|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Silent_p.S4S|ZSCAN29_uc001zrm.2_Silent_p.S4S|TUBGCP4_uc001zrn.2_5'Flank|TUBGCP4_uc001zro.2_5'Flank	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	zinc finger protein 690	5					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		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;8.97e-07)														---	---	---	---
SLC28A2	9153	broad.mit.edu	37	15	45556153	45556153	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:45556153T>C	uc001zva.2	+	6	586	c.521T>C	c.(520-522)CTG>CCG	p.L174P		NM_004212	NP_004203	O43868	S28A2_HUMAN	solute carrier family 28 (sodium-coupled	174	Helical; (Potential).				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)														---	---	---	---
SPATA5L1	79029	broad.mit.edu	37	15	45706832	45706832	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:45706832G>T	uc001zve.2	+	4	1607	c.1498G>T	c.(1498-1500)GGA>TGA	p.G500*	SPATA5L1_uc001zvf.2_RNA	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	500						cytoplasm	ATP binding|nucleoside-triphosphatase activity			ovary(3)|skin(1)	4		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)														---	---	---	---
GLDN	342035	broad.mit.edu	37	15	51634172	51634172	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51634172C>T	uc002aba.2	+	1	460	c.291C>T	c.(289-291)AGC>AGT	p.S97S	GLDN_uc010bez.1_Silent_p.S97S	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	gliomedin	97	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)														---	---	---	---
MAPK6	5597	broad.mit.edu	37	15	52356198	52356198	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52356198T>C	uc002abp.2	+	6	1961	c.1167T>C	c.(1165-1167)ACT>ACC	p.T389T		NM_002748	NP_002739	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	389					cell cycle		ATP binding|MAP kinase activity			lung(3)|ovary(1)	4				all cancers(107;0.0028)														---	---	---	---
MYO5C	55930	broad.mit.edu	37	15	52564028	52564028	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52564028C>T	uc010bff.2	-	7	901	c.764G>A	c.(763-765)CGA>CAA	p.R255Q	MYO5C_uc010uga.1_Intron|MYO5C_uc010ugb.1_RNA|MYO5C_uc010ugc.1_Intron	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	255	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)														---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63984606	63984606	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63984606G>A	uc002amp.2	-							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																		---	---	---	---
ZNF609	23060	broad.mit.edu	37	15	64967127	64967127	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64967127G>A	uc002ann.2	+	4	2074	c.2074G>A	c.(2074-2076)GCA>ACA	p.A692T		NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	692						nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3																		---	---	---	---
RPL4	6124	broad.mit.edu	37	15	66792468	66792468	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:66792468A>G	uc002apv.2	-	9	1020	c.964T>C	c.(964-966)TTG>CTG	p.L322L	SNAPC5_uc002apu.1_5'Flank|RPL4_uc010bhr.2_Silent_p.L228L|RPL4_uc002apw.2_Silent_p.L228L|RPL4_uc002apx.2_Silent_p.L228L	NM_000968	NP_000959	P36578	RL4_HUMAN	ribosomal protein L4	322					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome				0																		---	---	---	---
LBXCOR1	390598	broad.mit.edu	37	15	68118334	68118334	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:68118334G>A	uc002aqy.1	+	2	141	c.141G>A	c.(139-141)TCG>TCA	p.S47S		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	transcriptional corepressor Corl1	56					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																		---	---	---	---
CORO2B	10391	broad.mit.edu	37	15	68987583	68987583	+	Silent	SNP	G	A	A	rs140380181		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:68987583G>A	uc002arj.3	+	3	350	c.321G>A	c.(319-321)TCG>TCA	p.S107S	CORO2B_uc010bic.2_Silent_p.S102S	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	107	WD 1.				actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			ovary(3)|skin(2)|large_intestine(1)	6																		---	---	---	---
SPESP1	246777	broad.mit.edu	37	15	69238906	69238906	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:69238906G>A	uc002arn.1	+	2	1161	c.1033G>A	c.(1033-1035)GCC>ACC	p.A345T	NOX5_uc002arp.1_Intron|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002aro.2_Intron	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1 precursor	345					multicellular organismal development	acrosomal vesicle					0																		---	---	---	---
UACA	55075	broad.mit.edu	37	15	70960670	70960670	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:70960670A>T	uc002asr.2	-	16	2457	c.2353T>A	c.(2353-2355)TTG>ATG	p.L785M	UACA_uc010uke.1_Missense_Mutation_p.L676M|UACA_uc002asq.2_Missense_Mutation_p.L772M|UACA_uc010bin.1_Missense_Mutation_p.L760M	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and	785	Potential.					cytoskeleton|extracellular region				ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
THSD4	79875	broad.mit.edu	37	15	72057527	72057527	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72057527G>A	uc002atb.1	+	15	2837	c.2758G>A	c.(2758-2760)GAA>AAA	p.E920K	THSD4_uc002ate.2_Missense_Mutation_p.E560K|THSD4_uc002atg.1_Missense_Mutation_p.E123K	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	920	TSP type-1 6.					proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2																		---	---	---	---
CSPG4	1464	broad.mit.edu	37	15	75979694	75979694	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75979694G>T	uc002baw.2	-	3	3805	c.3712C>A	c.(3712-3714)CCA>ACA	p.P1238T		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	1238	Interaction with COL5A1 (By similarity).|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).				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																		---	---	---	---
PSTPIP1	9051	broad.mit.edu	37	15	77328231	77328231	+	Silent	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:77328231C>A	uc002bcf.2	+	14	1524	c.1074C>A	c.(1072-1074)GCC>GCA	p.A358A	PSTPIP1_uc010bkt.1_RNA|PSTPIP1_uc010bku.1_Silent_p.A349A|PSTPIP1_uc002bcg.2_Silent_p.A355A|PSTPIP1_uc010bkw.1_Silent_p.A339A|PSTPIP1_uc002bch.1_Silent_p.A119A|PSTPIP1_uc002bci.1_RNA	NM_003978	NP_003969	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting	358					cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity			ovary(1)	1																		---	---	---	---
LINGO1	84894	broad.mit.edu	37	15	77907861	77907861	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:77907861G>A	uc002bct.1	-	2	440	c.388C>T	c.(388-390)CGC>TGC	p.R130C	LINGO1_uc002bcu.1_Missense_Mutation_p.R124C	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	leucine-rich repeat neuronal 6A	130	Extracellular (Potential).|LRR 3.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				ovary(1)|lung(1)	2																		---	---	---	---
ACSBG1	23205	broad.mit.edu	37	15	78485962	78485962	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78485962G>A	uc002bdh.2	-	5	605	c.549C>T	c.(547-549)ATC>ATT	p.I183I	ACSBG1_uc010umw.1_Silent_p.I179I|ACSBG1_uc010umx.1_Intron|ACSBG1_uc010umy.1_Silent_p.I76I	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	lipidosin	183					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			ovary(1)	1																		---	---	---	---
C15orf26	161502	broad.mit.edu	37	15	81428869	81428869	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:81428869G>A	uc002bgb.2	+	3	199	c.172G>A	c.(172-174)GTA>ATA	p.V58I	C15orf26_uc010blp.1_Missense_Mutation_p.V33I	NM_173528	NP_775799	Q6P656	CO026_HUMAN	hypothetical protein LOC161502	58											0																		---	---	---	---
C15orf42	90381	broad.mit.edu	37	15	90159667	90159667	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90159667C>T	uc002boe.2	+	16	2901	c.2901C>T	c.(2899-2901)GCC>GCT	p.A967A		NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	967					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)															---	---	---	---
SLCO3A1	28232	broad.mit.edu	37	15	92706126	92706126	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:92706126G>A	uc002bqx.2	+	10	2095	c.1894G>A	c.(1894-1896)GCG>ACG	p.A632T	SLCO3A1_uc002bqy.2_Missense_Mutation_p.A632T|SLCO3A1_uc002bqz.1_Missense_Mutation_p.A574T	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family,	632	Helical; Name=12; (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			skin(1)	1	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)															---	---	---	---
MCTP2	55784	broad.mit.edu	37	15	94901754	94901754	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:94901754A>T	uc002btj.2	+	9	1279	c.1214A>T	c.(1213-1215)GAC>GTC	p.D405V	MCTP2_uc010urg.1_Intron|MCTP2_uc002bti.2_Missense_Mutation_p.D405V|MCTP2_uc010boj.2_Missense_Mutation_p.D134V|MCTP2_uc010bok.2_Missense_Mutation_p.D405V|MCTP2_uc002btk.3_Intron|MCTP2_uc002btl.2_Intron	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2 isoform 1	405	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)															---	---	---	---
TTC23	64927	broad.mit.edu	37	15	99679511	99679511	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:99679511C>T	uc002bur.2	-						TTC23_uc002bus.2_Intron|TTC23_uc002but.2_Intron|TTC23_uc002buu.2_Intron|TTC23_uc002buv.2_Intron|TTC23_uc002bux.2_Intron|TTC23_uc002buw.2_Intron|TTC23_uc010boq.2_Intron|TTC23_uc002buy.2_Intron|TTC23_uc010bor.2_Intron	NM_022905	NP_075056			tetratricopeptide repeat domain 23								binding				0	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)															---	---	---	---
POLR3K	51728	broad.mit.edu	37	16	97531	97531	+	Missense_Mutation	SNP	G	A	A	rs144406744	byFrequency	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:97531G>A	uc002cfi.1	-	3	265	c.226C>T	c.(226-228)CGT>TGT	p.R76C		NM_016310	NP_057394	Q9Y2Y1	RPC10_HUMAN	DNA directed RNA polymerase III polypeptide K	76	TFIIS-type.				innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding				0		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)																---	---	---	---
MRPL28	10573	broad.mit.edu	37	16	419103	419103	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:419103C>T	uc002cgr.1	-	2	422	c.406G>A	c.(406-408)GAT>AAT	p.D136N	MRPL28_uc010bqu.1_Missense_Mutation_p.D136N|MRPL28_uc002cgs.1_Missense_Mutation_p.D136N|MRPL28_uc002cgt.1_Missense_Mutation_p.D136N	NM_006428	NP_006419	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28 precursor	136					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome				0		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)																---	---	---	---
NARFL	64428	broad.mit.edu	37	16	780438	780438	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:780438A>G	uc002cjr.2	-	11	1422	c.1410T>C	c.(1408-1410)ACT>ACC	p.T470T	NARFL_uc002cjp.2_Silent_p.T368T|NARFL_uc002cjq.2_Silent_p.T368T|NARFL_uc002cjs.2_Silent_p.T252T	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	470					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding				0		Hepatocellular(780;0.0218)																---	---	---	---
CHTF18	63922	broad.mit.edu	37	16	841154	841154	+	Intron	SNP	C	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:841154C>G	uc002cke.3	+						RPUSD1_uc002ckb.2_5'Flank|RPUSD1_uc002ckc.2_5'Flank|RPUSD1_uc002ckd.2_5'Flank|CHTF18_uc010uus.1_3'UTR|CHTF18_uc010bre.1_Intron|CHTF18_uc002ckf.3_Intron|CHTF18_uc010brf.2_5'UTR|CHTF18_uc002ckg.3_5'UTR	NM_022092	NP_071375			CTF18, chromosome transmission fidelity factor						cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			kidney(1)	1		Hepatocellular(780;0.00335)																---	---	---	---
CRAMP1L	57585	broad.mit.edu	37	16	1705981	1705981	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1705981C>T	uc010uvh.1	+	9	1223	c.1223C>T	c.(1222-1224)CCG>CTG	p.P408L	CRAMP1L_uc002cmf.2_Intron	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Crm, cramped-like	408						nucleus	DNA binding				0																		---	---	---	---
CEMP1	752014	broad.mit.edu	37	16	2581057	2581057	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2581057A>G	uc002cqr.2	-	1	374	c.18T>C	c.(16-18)ACT>ACC	p.T6T		NM_001048212	NP_001041677	Q6PRD7	CEMP1_HUMAN	cementum protein 1	6						cytoplasm				skin(1)	1																		---	---	---	---
KCTD5	54442	broad.mit.edu	37	16	2752467	2752467	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2752467C>A	uc002crd.2	+	5	718	c.663C>A	c.(661-663)AGC>AGA	p.S221R		NM_018992	NP_061865	Q9NXV2	KCTD5_HUMAN	potassium channel tetramerisation domain	221					interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity				0																		---	---	---	---
TIGD7	91151	broad.mit.edu	37	16	3350127	3350127	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3350127A>G	uc002cus.2	-	1	1274	c.488T>C	c.(487-489)ATA>ACA	p.I163T	ZNF263_uc002cur.2_3'UTR|TIGD7_uc010btj.1_RNA	NM_033208	NP_149985	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	163					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0																		---	---	---	---
NLRC3	197358	broad.mit.edu	37	16	3614999	3614999	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3614999G>A	uc010btn.2	-	4	450	c.39C>T	c.(37-39)GGC>GGT	p.G13G		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	13					I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6																		---	---	---	---
C16orf71	146562	broad.mit.edu	37	16	4786531	4786531	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4786531A>G	uc002cxn.2	+	2	478	c.16A>G	c.(16-18)AAA>GAA	p.K6E	ANKS3_uc002cxj.1_5'Flank|ANKS3_uc002cxk.2_5'Flank|ANKS3_uc002cxl.2_5'Flank|ANKS3_uc010uxs.1_5'Flank|ANKS3_uc002cxm.2_5'Flank	NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	hypothetical protein LOC146562	6										central_nervous_system(1)	1																		---	---	---	---
TEKT5	146279	broad.mit.edu	37	16	10788315	10788315	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:10788315C>T	uc002czz.1	-	1	488	c.416G>A	c.(415-417)CGG>CAG	p.R139Q		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	tektin 5	139	Potential.				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2																		---	---	---	---
CLEC16A	23274	broad.mit.edu	37	16	11219940	11219940	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:11219940C>T	uc002dao.2	+	22	2808	c.2578C>T	c.(2578-2580)CGC>TGC	p.R860C	CLEC16A_uc002dan.3_Missense_Mutation_p.R842C|CLEC16A_uc002dap.2_5'UTR	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	860										ovary(1)|central_nervous_system(1)	2																		---	---	---	---
TXNDC11	51061	broad.mit.edu	37	16	11785786	11785786	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:11785786C>T	uc010buu.1	-	9	1403	c.1341G>A	c.(1339-1341)GCG>GCA	p.A447A	TXNDC11_uc002dbg.1_Silent_p.A420A	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	447					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0																		---	---	---	---
RSL1D1	26156	broad.mit.edu	37	16	11931765	11931765	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:11931765G>A	uc002dbp.1	-	9	1425	c.1352C>T	c.(1351-1353)GCG>GTG	p.A451V	RSL1D1_uc010buv.1_Missense_Mutation_p.A450V|RSL1D1_uc010uyw.1_Missense_Mutation_p.A231V	NM_015659	NP_056474	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	451					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	12492300	12492300	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:12492300T>C	uc002dby.3	+							NM_001080530	NP_001073999			sorting nexin 29						cell communication		phosphatidylinositol binding			ovary(1)	1																		---	---	---	---
CDR2	1039	broad.mit.edu	37	16	22359037	22359037	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:22359037A>G	uc002dkn.2	-	5	922	c.614T>C	c.(613-615)TTG>TCG	p.L205S		NM_001802	NP_001793	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2	205	Potential.					nucleus	protein binding			skin(1)	1				GBM - Glioblastoma multiforme(48;0.0188)														---	---	---	---
HS3ST2	9956	broad.mit.edu	37	16	22825981	22825981	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:22825981C>T	uc002dli.2	+	1	122	c.50C>T	c.(49-51)GCG>GTG	p.A17V	HS3ST2_uc002dlj.2_RNA	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	heparan sulfate D-glucosaminyl	17	Cytoplasmic (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(48;0.0299)														---	---	---	---
PLK1	5347	broad.mit.edu	37	16	23695280	23695280	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23695280C>T	uc002dlz.1	+	5	959	c.906C>T	c.(904-906)GAC>GAT	p.D302D		NM_005030	NP_005021	P53350	PLK1_HUMAN	polo-like kinase 1	302	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			lung(1)|skin(1)	2				GBM - Glioblastoma multiforme(48;0.0156)														---	---	---	---
PRKCB	5579	broad.mit.edu	37	16	23847645	23847645	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23847645G>T	uc002dmd.2	+	1	346	c.149G>T	c.(148-150)TGC>TTC	p.C50F	PRKCB_uc002dme.2_Missense_Mutation_p.C50F	NM_212535	NP_997700	P05771	KPCB_HUMAN	protein kinase C, beta isoform 1	50	Phorbol-ester/DAG-type 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)													---	---	---	---
CACNG3	10368	broad.mit.edu	37	16	24372780	24372780	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24372780G>A	uc002dmf.2	+	4	1744	c.544G>A	c.(544-546)GGA>AGA	p.G182R		NM_006539	NP_006530	O60359	CCG3_HUMAN	voltage-dependent calcium channel gamma-3	182	Helical; (Potential).				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0				GBM - Glioblastoma multiforme(48;0.0809)														---	---	---	---
AQP8	343	broad.mit.edu	37	16	25232874	25232874	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:25232874C>T	uc002doc.2	+	3	439	c.357C>T	c.(355-357)CTC>CTT	p.L119L		NM_001169	NP_001160	O94778	AQP8_HUMAN	aquaporin 8	119	Helical; (Potential).				cellular response to cAMP	integral to plasma membrane	water channel activity			upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(48;0.044)														---	---	---	---
NSMCE1	197370	broad.mit.edu	37	16	27237123	27237123	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:27237123G>A	uc002doi.1	-	7	743	c.645C>T	c.(643-645)TGC>TGT	p.C215C	NSMCE1_uc002doj.1_RNA	NM_145080	NP_659547	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog	215	NSE1-type.				DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding				0																		---	---	---	---
SH2B1	25970	broad.mit.edu	37	16	28877939	28877939	+	Missense_Mutation	SNP	C	T	T	rs147094247	byFrequency	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28877939C>T	uc002dri.2	+	4	963	c.524C>T	c.(523-525)ACC>ATC	p.T175I	uc010vct.1_Intron|SH2B1_uc010vdc.1_Intron|SH2B1_uc002drj.2_Missense_Mutation_p.T175I|SH2B1_uc002drk.2_Missense_Mutation_p.T175I|SH2B1_uc002drl.2_Missense_Mutation_p.T175I|SH2B1_uc010vdd.1_Intron|SH2B1_uc010vde.1_Missense_Mutation_p.T175I|SH2B1_uc002drm.2_Missense_Mutation_p.T175I	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1 isoform 1	175	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			ovary(2)	2																		---	---	---	---
PPP4C	5531	broad.mit.edu	37	16	30096003	30096003	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30096003C>T	uc002dwe.2	+	8	765	c.621C>T	c.(619-621)GGC>GGT	p.G207G	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.2_Silent_p.G207G|PPP4C_uc002dwg.2_RNA|PPP4C_uc002dwh.2_Silent_p.G128G	NM_002720	NP_002711	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	207					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			skin(1)	1																		---	---	---	---
PPP4C	5531	broad.mit.edu	37	16	30096284	30096284	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30096284G>A	uc002dwe.2	+	9	969	c.825G>A	c.(823-825)CTG>CTA	p.L275L	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.2_Silent_p.L275L|PPP4C_uc002dwg.2_RNA|PPP4C_uc002dwh.2_Silent_p.L196L	NM_002720	NP_002711	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	275					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			skin(1)	1																		---	---	---	---
TBX6	6911	broad.mit.edu	37	16	30097873	30097873	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30097873G>T	uc010veh.1	-	8	1117	c.1057C>A	c.(1057-1059)CCT>ACT	p.P353T	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron	NM_004608	NP_004599	O95947	TBX6_HUMAN	T-box 6	353					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2																		---	---	---	---
DCTPP1	79077	broad.mit.edu	37	16	30435737	30435737	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30435737G>A	uc002dyf.2	-	3	402	c.330C>T	c.(328-330)TGC>TGT	p.C110C	ZNF771_uc010bzx.2_Intron	NM_024096	NP_077001	Q9H773	DCTP1_HUMAN	dCTP pyrophosphatase 1	110					nucleoside triphosphate catabolic process	cytosol	dCTP diphosphatase activity|identical protein binding|magnesium ion binding				0																		---	---	---	---
ITGAL	3683	broad.mit.edu	37	16	30529992	30529992	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30529992C>T	uc002dyi.3	+	29	3356	c.3180C>T	c.(3178-3180)AAC>AAT	p.N1060N	ITGAL_uc002dyj.3_Silent_p.N976N|ITGAL_uc010vev.1_Silent_p.N294N	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	1060	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)													---	---	---	---
PRR14	78994	broad.mit.edu	37	16	30663120	30663120	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30663120G>A	uc002dyy.2	+	3	285	c.27G>A	c.(25-27)CCG>CCA	p.P9P	PRR14_uc002dyz.2_5'UTR|PRR14_uc002dza.2_Silent_p.P9P|PRR14_uc002dzb.1_5'Flank	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	proline rich 14	9											0			Colorectal(24;0.103)															---	---	---	---
VKORC1	79001	broad.mit.edu	37	16	31106026	31106026	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31106026C>A	uc002eas.2	-	1	251	c.25G>T	c.(25-27)GGC>TGC	p.G9C	PRSS53_uc002ear.2_5'UTR|VKORC1_uc002eat.2_Missense_Mutation_p.G9C|VKORC1_uc002eau.2_Missense_Mutation_p.G9C	NM_024006	NP_076869	Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	9	Helical; (Potential).				peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity				0					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)													---	---	---	---
ITGAX	3687	broad.mit.edu	37	16	31374258	31374258	+	Silent	SNP	C	T	T	rs147426364		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31374258C>T	uc002ebu.1	+	13	1429	c.1362C>T	c.(1360-1362)ATC>ATT	p.I454I	ITGAX_uc002ebt.2_Silent_p.I454I|ITGAX_uc010vfk.1_Silent_p.I104I	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	454	FG-GAP 5.|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																		---	---	---	---
ORC6L	23594	broad.mit.edu	37	16	46723639	46723639	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:46723639C>T	uc002eeh.2	+	1	82	c.22C>T	c.(22-24)CGC>TGC	p.R8C	VPS35_uc002eee.2_5'Flank|VPS35_uc002eef.3_5'Flank|ORC6L_uc002eeg.1_Missense_Mutation_p.R8C|ORC6L_uc010cbe.1_5'UTR	NM_014321	NP_055136	Q9Y5N6	ORC6_HUMAN	origin recognition complex subunit 6	8					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)																---	---	---	---
ABCC11	85320	broad.mit.edu	37	16	48201547	48201547	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:48201547C>A	uc002eff.1	-	28	4266	c.3916G>T	c.(3916-3918)GCC>TCC	p.A1306S	ABCC11_uc002efg.1_Missense_Mutation_p.A1306S|ABCC11_uc002efh.1_Missense_Mutation_p.A1268S|ABCC11_uc010cbg.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	1306	ABC transporter 2.|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				---	---	---	---
CHD9	80205	broad.mit.edu	37	16	53243646	53243646	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:53243646A>T	uc002ehb.2	+	2	1869	c.1705A>T	c.(1705-1707)AGG>TGG	p.R569W	CHD9_uc002egy.2_Missense_Mutation_p.R569W|CHD9_uc002egz.1_Missense_Mutation_p.R569W|CHD9_uc002eha.1_Missense_Mutation_p.R569W|CHD9_uc002ehc.2_Missense_Mutation_p.R569W|CHD9_uc002ehd.2_Missense_Mutation_p.R95W	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	569	Lys-rich.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)																---	---	---	---
FTO	79068	broad.mit.edu	37	16	53859941	53859941	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:53859941A>G	uc002ehr.2	+	3	511	c.289A>G	c.(289-291)ATC>GTC	p.I97V	FTO_uc010vha.1_Intron	NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	97	Fe2OG dioxygenase domain.				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																		---	---	---	---
CETP	1071	broad.mit.edu	37	16	57007277	57007277	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57007277T>C	uc002eki.2	+	9	842	c.785T>C	c.(784-786)CTC>CCC	p.L262P	CETP_uc002ekj.2_Intron	NM_000078	NP_000069	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	262					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																		---	---	---	---
NLRC5	84166	broad.mit.edu	37	16	57077522	57077522	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57077522C>T	uc002ekk.1	+						NLRC5_uc010ccq.1_Intron|NLRC5_uc002ekn.2_Intron|NLRC5_uc002ekl.2_Intron|NLRC5_uc002ekm.2_Intron|NLRC5_uc010ccr.1_Intron|NLRC5_uc010ccs.1_Intron|NLRC5_uc002eko.1_Intron|NLRC5_uc002ekp.1_Intron|NLRC5_uc002ekq.1_Intron|NLRC5_uc002ekr.1_5'Flank	NM_032206	NP_115582			nucleotide-binding oligomerization domains 27						defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)																---	---	---	---
CDH5	1003	broad.mit.edu	37	16	66436970	66436970	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:66436970C>T	uc002eom.3	+	12	2409	c.2253C>T	c.(2251-2253)TCC>TCT	p.S751S		NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	751	Cytoplasmic (Potential).|Ser-rich.				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)														---	---	---	---
CES3	23491	broad.mit.edu	37	16	66997277	66997277	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:66997277C>T	uc002eqt.2	+	2	351	c.278C>T	c.(277-279)GCG>GTG	p.A93V	CES3_uc010cdz.2_Missense_Mutation_p.A93V|CES3_uc010cea.2_RNA	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	carboxylesterase 3 precursor	93						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			ovary(3)|central_nervous_system(2)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)														---	---	---	---
CES8	283848	broad.mit.edu	37	16	67043039	67043039	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67043039A>G	uc002eqv.2	+	12	1513	c.1470A>G	c.(1468-1470)CAA>CAG	p.Q490Q	CES8_uc010vix.1_3'UTR|CES8_uc002eqw.2_3'UTR|CES8_uc002eqy.2_Silent_p.Q462Q|CES8_uc002eqx.2_Silent_p.Q366Q|CES8_uc010viy.1_3'UTR|CES8_uc010viz.1_Silent_p.Q462Q|CES8_uc002eqz.2_RNA	NM_173815	NP_776176	Q5XG92	EST4A_HUMAN	carboxylesterase 8 (putative)	560						extracellular region	carboxylesterase activity				0																		---	---	---	---
FBXL8	55336	broad.mit.edu	37	16	67197591	67197591	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67197591C>T	uc002erj.1	+	3	1113	c.993C>T	c.(991-993)CGC>CGT	p.R331R	FBXL8_uc002erk.1_Silent_p.R331R|HSF4_uc002erl.1_5'UTR|HSF4_uc002erm.1_5'UTR|HSF4_uc002ern.1_5'Flank|HSF4_uc010cec.1_5'Flank	NM_018378	NP_060848	Q96CD0	FBXL8_HUMAN	F-box and leucine-rich repeat protein 8	331							protein binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)														---	---	---	---
HSF4	3299	broad.mit.edu	37	16	67199648	67199648	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67199648G>A	uc002erl.1	+	5	1224	c.259G>A	c.(259-261)GAG>AAG	p.E87K	HSF4_uc002erm.1_Missense_Mutation_p.E87K|HSF4_uc002ern.1_RNA|HSF4_uc010cec.1_RNA	NM_001040667	NP_001035757	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4 isoform b	87	By similarity.				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)														---	---	---	---
FHOD1	29109	broad.mit.edu	37	16	67265195	67265195	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67265195G>A	uc002esl.2	-	17	2675	c.2563C>T	c.(2563-2565)CGT>TGT	p.R855C	FHOD1_uc002esk.2_5'Flank|FHOD1_uc010ced.2_Missense_Mutation_p.R662C	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	855	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(2)|ovary(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)														---	---	---	---
FHOD1	29109	broad.mit.edu	37	16	67271645	67271645	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67271645C>T	uc002esl.2	-	7	781	c.669G>A	c.(667-669)CTG>CTA	p.L223L	FHOD1_uc010ced.2_Silent_p.L30L|FHOD1_uc010vjh.1_5'UTR	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	223	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(2)|ovary(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)														---	---	---	---
PLEKHG4	25894	broad.mit.edu	37	16	67318714	67318714	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67318714G>A	uc002eso.3	+	12	4326	c.1791G>A	c.(1789-1791)AGG>AGA	p.R597R	PLEKHG4_uc002esp.3_Silent_p.R404R|PLEKHG4_uc002esq.3_Silent_p.R597R|PLEKHG4_uc010cef.2_Silent_p.R597R|PLEKHG4_uc002ess.3_Silent_p.R597R|PLEKHG4_uc010ceg.2_Silent_p.R516R	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G	597					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)														---	---	---	---
MARVELD3	91862	broad.mit.edu	37	16	71674810	71674810	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:71674810C>T	uc002fau.2	+	3	1176	c.1113C>T	c.(1111-1113)TAC>TAT	p.Y371Y	PHLPP2_uc002fav.2_RNA|MARVELD3_uc010cge.2_3'UTR	NM_001017967	NP_001017967	Q96A59	MALD3_HUMAN	MARVEL domain containing 3 isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						integral to membrane				skin(1)	1		Ovarian(137;0.125)																---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72845891	72845891	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72845891G>A	uc002fck.2	-	6	4249	c.3576C>T	c.(3574-3576)ACC>ACT	p.T1192T	ZFHX3_uc002fcl.2_Silent_p.T278T	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1192					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)																---	---	---	---
CHST6	4166	broad.mit.edu	37	16	75512732	75512732	+	Missense_Mutation	SNP	G	T	T	rs144301922		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:75512732G>T	uc002fef.2	-	3	1175	c.995C>A	c.(994-996)GCC>GAC	p.A332D	CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.A332D	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	332	Lumenal (Potential).				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0																		---	---	---	---
CHST5	23563	broad.mit.edu	37	16	75563452	75563452	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:75563452G>A	uc002fei.2	-	3	2226	c.831C>T	c.(829-831)GCC>GCT	p.A277A	CHST5_uc002fej.1_Silent_p.A283A	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	277	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0																		---	---	---	---
MAF	4094	broad.mit.edu	37	16	79633683	79633683	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:79633683G>A	uc002ffn.2	-	1	940	c.117C>T	c.(115-117)ACC>ACT	p.T39T	MAF_uc002ffm.2_Silent_p.T39T	NM_001031804	NP_001026974	O75444	MAF_HUMAN	v-maf musculoaponeurotic fibrosarcoma oncogene	39					transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)	1		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)				T	IGH@	MM								---	---	---	---
FBXO31	79791	broad.mit.edu	37	16	87367566	87367566	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:87367566C>T	uc002fjw.2	-	8	1367	c.1323G>A	c.(1321-1323)GGG>GGA	p.G441G	FBXO31_uc010vot.1_Silent_p.G269G|FBXO31_uc002fjv.2_Silent_p.G333G	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	F-box protein 31	441					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0272)														---	---	---	---
ACSF3	197322	broad.mit.edu	37	16	89169086	89169086	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89169086C>T	uc002fmp.2	+	4	1081	c.741C>T	c.(739-741)GTC>GTT	p.V247V	ACSF3_uc010cig.1_Silent_p.V247V|ACSF3_uc010cih.1_5'UTR|ACSF3_uc002fmq.1_RNA|ACSF3_uc010cii.1_RNA|ACSF3_uc002fmr.1_5'UTR	NM_174917	NP_777577	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3 precursor	247					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0281)														---	---	---	---
SCARF1	8578	broad.mit.edu	37	17	1538416	1538416	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1538416C>T	uc002fsz.1	-	11	2179	c.2129G>A	c.(2128-2130)CGC>CAC	p.R710H	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Missense_Mutation_p.R624H	NM_003693	NP_003684	Q14162	SREC_HUMAN	scavenger receptor class F, member 1 isoform 1	710	Gly-rich.|Cytoplasmic (Potential).				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)														---	---	---	---
SCARF1	8578	broad.mit.edu	37	17	1538421	1538421	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1538421G>A	uc002fsz.1	-	11	2174	c.2124C>T	c.(2122-2124)GTC>GTT	p.V708V	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Silent_p.V622V	NM_003693	NP_003684	Q14162	SREC_HUMAN	scavenger receptor class F, member 1 isoform 1	708	Gly-rich.|Cytoplasmic (Potential).				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)														---	---	---	---
SERPINF2	5345	broad.mit.edu	37	17	1649113	1649113	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1649113C>A	uc002ftk.1	+	5	354	c.277C>A	c.(277-279)CTG>ATG	p.L93M	SERPINF2_uc010vqr.1_Intron	NM_000934	NP_000925	P08697	A2AP_HUMAN	alpha-2-antiplasmin isoform a precursor	93					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)													---	---	---	---
RTN4RL1	146760	broad.mit.edu	37	17	1840945	1840945	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1840945C>T	uc002ftp.2	-	2	190	c.171G>A	c.(169-171)GAG>GAA	p.E57E		NM_178568	NP_848663	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1 precursor	57	LRR 1.				axon regeneration	anchored to plasma membrane	receptor activity				0																		---	---	---	---
ATP2A3	489	broad.mit.edu	37	17	3833644	3833644	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3833644T>C	uc002fxb.1	-	18	2846	c.2695A>G	c.(2695-2697)ATG>GTG	p.M899V	ATP2A3_uc010ckn.1_Missense_Mutation_p.M1V|ATP2A3_uc002fwx.1_Missense_Mutation_p.M899V|ATP2A3_uc002fwy.1_Missense_Mutation_p.M899V|ATP2A3_uc002fwz.1_Missense_Mutation_p.M899V|ATP2A3_uc002fxa.1_Missense_Mutation_p.M899V|ATP2A3_uc002fxc.1_Missense_Mutation_p.M899V|ATP2A3_uc002fxd.1_Missense_Mutation_p.M899V	NM_174955	NP_777615	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform b	899	Helical; Name=8; (By similarity).				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			ovary(3)|breast(1)|central_nervous_system(1)	5				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)														---	---	---	---
SPNS3	201305	broad.mit.edu	37	17	4337322	4337322	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4337322G>T	uc002fxt.2	+	1	104	c.60G>T	c.(58-60)CAG>CAT	p.Q20H	SPNS3_uc002fxu.2_5'UTR	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3	20					lipid transport|transmembrane transport	integral to membrane				large_intestine(1)	1																		---	---	---	---
ARRB2	409	broad.mit.edu	37	17	4620985	4620985	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4620985C>T	uc002fyj.2	+	7	651	c.423C>T	c.(421-423)TGC>TGT	p.C141C	ARRB2_uc002fyk.2_Silent_p.C126C|ARRB2_uc002fyl.2_Silent_p.C141C|ARRB2_uc010vsg.1_Silent_p.C162C|ARRB2_uc002fym.2_Silent_p.C126C|ARRB2_uc002fyn.2_5'UTR|ARRB2_uc010ckq.2_5'UTR|ARRB2_uc002fyo.2_5'UTR	NM_004313	NP_004304	P32121	ARRB2_HUMAN	arrestin, beta 2 isoform 1	141					cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding				0																		---	---	---	---
VMO1	284013	broad.mit.edu	37	17	4688653	4688653	+	3'UTR	SNP	C	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4688653C>G	uc002fyx.2	-	3					VMO1_uc010vsh.1_3'UTR|VMO1_uc010vsi.1_3'UTR|VMO1_uc002fyy.2_3'UTR	NM_182566	NP_872372			vitelline membrane outer layer 1 isoform 1						vitelline membrane formation	extracellular region				ovary(1)	1																		---	---	---	---
CAMTA2	23125	broad.mit.edu	37	17	4883536	4883536	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4883536C>T	uc002gah.1	-	9	1189	c.1081G>A	c.(1081-1083)GGC>AGC	p.G361S	CAMTA2_uc010cku.1_Missense_Mutation_p.G384S|CAMTA2_uc002gag.1_Missense_Mutation_p.G360S|CAMTA2_uc002gai.1_Missense_Mutation_p.G363S|CAMTA2_uc010ckv.1_Missense_Mutation_p.G8S|CAMTA2_uc010vsu.1_Missense_Mutation_p.G174S	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	361					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1																		---	---	---	---
NUP88	4927	broad.mit.edu	37	17	5292206	5292206	+	Missense_Mutation	SNP	C	T	T	rs149123666		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5292206C>T	uc002gbo.1	-	11	1585	c.1559G>A	c.(1558-1560)CGT>CAT	p.R520H	NUP88_uc002gbn.2_5'Flank|NUP88_uc010vsx.1_Missense_Mutation_p.R520H|NUP88_uc010cle.1_Missense_Mutation_p.R519H|NUP88_uc010vsy.1_Missense_Mutation_p.R520H	NM_002532	NP_002523	Q99567	NUP88_HUMAN	nucleoporin 88kDa	520					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			kidney(1)	1																		---	---	---	---
NLGN2	57555	broad.mit.edu	37	17	7319413	7319413	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7319413T>G	uc002ggt.1	+	6	1694	c.1621T>G	c.(1621-1623)TTC>GTC	p.F541V		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	neuroligin 2 precursor	541	Extracellular (Potential).				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)	1		Prostate(122;0.157)																---	---	---	---
SENP3	26168	broad.mit.edu	37	17	7473821	7473821	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7473821G>A	uc002ghm.2	+						EIF4A1_uc002gho.1_Intron|EIF4A1_uc002ghr.1_5'Flank|EIF4A1_uc002ghq.1_5'Flank|EIF4A1_uc002ghp.1_5'Flank	NM_015670	NP_056485			SUMO1/sentrin/SMT3 specific protease 3						proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			ovary(1)|central_nervous_system(1)	2		Prostate(122;0.157)																---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	A	A	rs121913343		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7577121G>A	uc002gim.2	-	8	1011	c.817C>T	c.(817-819)CGT>TGT	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			---	---	---	---
ARHGEF15	22899	broad.mit.edu	37	17	8219453	8219453	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:8219453G>A	uc002glc.2	+	9	1812	c.1691G>A	c.(1690-1692)CGC>CAC	p.R564H	ARHGEF15_uc002gld.2_Missense_Mutation_p.R564H|ARHGEF15_uc010vuw.1_Missense_Mutation_p.R453H	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	564	DH.				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																		---	---	---	---
TNFRSF13B	23495	broad.mit.edu	37	17	16843050	16843050	+	Missense_Mutation	SNP	G	T	T	rs145711865		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:16843050G>T	uc002gqs.1	-	5	706	c.693C>A	c.(691-693)AGC>AGA	p.S231R	TNFRSF13B_uc010vwt.1_RNA|TNFRSF13B_uc002gqt.1_Missense_Mutation_p.S185R	NM_012452	NP_036584	O14836	TR13B_HUMAN	tumor necrosis factor receptor 13B	231	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			kidney(2)	2														IgA_Deficiency_Selective				---	---	---	---
RAI1	10743	broad.mit.edu	37	17	17700556	17700556	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:17700556C>A	uc002grm.2	+	3	4763	c.4294C>A	c.(4294-4296)CCG>ACG	p.P1432T	RAI1_uc002grn.1_Missense_Mutation_p.P1432T	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1432						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)														---	---	---	---
LRRC48	83450	broad.mit.edu	37	17	17896209	17896209	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:17896209G>A	uc010vxd.1	+	7	954	c.575G>A	c.(574-576)CGC>CAC	p.R192H	LRRC48_uc002gsa.2_Missense_Mutation_p.R192H|LRRC48_uc010vxc.1_Missense_Mutation_p.R192H|LRRC48_uc002gsb.2_Missense_Mutation_p.R192H	NM_001130090	NP_001123562	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48 isoform a	192	LRRCT.					cytoplasm				pancreas(1)	1	all_neural(463;0.228)																	---	---	---	---
MYO15A	51168	broad.mit.edu	37	17	18022183	18022183	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18022183G>A	uc010vxh.1	+	2	407	c.69G>A	c.(67-69)CCG>CCA	p.P23P		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	23	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)																	---	---	---	---
MAPK7	5598	broad.mit.edu	37	17	19284193	19284193	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19284193C>T	uc002gvn.2	+	4	1057	c.671C>T	c.(670-672)ACG>ATG	p.T224M	B9D1_uc010cqm.1_5'Flank|B9D1_uc002gvl.3_5'Flank|MAPK7_uc002gvo.2_Missense_Mutation_p.T85M|MAPK7_uc002gvq.2_Missense_Mutation_p.T224M|MAPK7_uc002gvp.2_Missense_Mutation_p.T224M	NM_139033	NP_620602	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7 isoform 1	224	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)																	---	---	---	---
SLC13A2	9058	broad.mit.edu	37	17	26816239	26816239	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26816239A>G	uc002hbh.2	+	2	177	c.110A>G	c.(109-111)TAC>TGC	p.Y37C	SLC13A2_uc010wal.1_Intron|SLC13A2_uc010wam.1_5'UTR|SLC13A2_uc010wan.1_Missense_Mutation_p.Y37C|SLC13A2_uc010wao.1_Intron|SLC13A2_uc002hbi.2_5'UTR	NM_003984	NP_003975	Q13183	S13A2_HUMAN	solute carrier family 13, member 2 isoform b	37						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity				0	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)													---	---	---	---
ALDOC	230	broad.mit.edu	37	17	26900833	26900833	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26900833G>T	uc002hbp.2	-	8	1064	c.919C>A	c.(919-921)CAA>AAA	p.Q307K	PIGS_uc002hbn.2_5'Flank|PIGS_uc002hbo.2_5'Flank|PIGS_uc010wap.1_5'Flank|ALDOC_uc010cro.2_Missense_Mutation_p.Q279K	NM_005165	NP_005156	P09972	ALDOC_HUMAN	fructose-bisphosphate aldolase C	307					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			ovary(1)	1	Lung NSC(42;0.00431)																	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27008285	27008285	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27008285T>A	uc002hby.2	+	12	1451	c.1361T>A	c.(1360-1362)GTC>GAC	p.V454D	SUPT6H_uc010crt.2_Missense_Mutation_p.V454D	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	454					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)																	---	---	---	---
GIT1	28964	broad.mit.edu	37	17	27905345	27905345	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27905345G>A	uc002hef.2	-	9	1069	c.855C>T	c.(853-855)GAC>GAT	p.D285D	GIT1_uc002heg.2_Silent_p.D294D|GIT1_uc010wbg.1_Silent_p.D294D|GIT1_uc010csb.1_Silent_p.D285D	NM_014030	NP_054749	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interactor 1	285	ARHGEF6-binding (By similarity).|PTK2-binding (By similarity).				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)														---	---	---	---
EFCAB5	374786	broad.mit.edu	37	17	28410071	28410071	+	Intron	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:28410071G>T	uc002het.2	+						EFCAB5_uc010cse.2_Intron|EFCAB5_uc010csf.2_Intron	NM_198529	NP_940931			EF-hand calcium binding domain 5 isoform a								calcium ion binding			ovary(1)|skin(1)	2																		---	---	---	---
CCDC55	84081	broad.mit.edu	37	17	28511844	28511844	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:28511844G>A	uc002heu.2	+	7	857	c.829G>A	c.(829-831)GAG>AAG	p.E277K	CCDC55_uc002hev.2_Missense_Mutation_p.E223K|CCDC55_uc010wbl.1_Missense_Mutation_p.E223K|CCDC55_uc010wbm.1_Missense_Mutation_p.E223K|CCDC55_uc002hex.2_Missense_Mutation_p.E223K	NM_032141	NP_115517	Q9H0G5	NSRP1_HUMAN	coiled-coil domain containing 55 isoform 1	277					developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding				0																		---	---	---	---
CDK5R1	8851	broad.mit.edu	37	17	30814811	30814811	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30814811T>C	uc002hhn.2	+	2	394	c.173T>C	c.(172-174)GTG>GCG	p.V58A	CDK5R1_uc010wca.1_Missense_Mutation_p.V58A|CDK5R1_uc010ctc.2_5'Flank	NM_003885	NP_003876	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1	58					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			ovary(1)	1		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)															---	---	---	---
UNC45B	146862	broad.mit.edu	37	17	33497136	33497136	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:33497136G>A	uc002hja.2	+	12	1648	c.1551G>A	c.(1549-1551)TGG>TGA	p.W517*	UNC45B_uc002hjb.2_Nonsense_Mutation_p.W517*|UNC45B_uc002hjc.2_Nonsense_Mutation_p.W517*|UNC45B_uc010cto.2_Intron	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	517					cell differentiation|muscle organ development	cytosol	binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)																---	---	---	---
TBC1D3B	414059	broad.mit.edu	37	17	34493416	34493416	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:34493416C>T	uc002hky.2	-	14	1759	c.1609G>A	c.(1609-1611)GGC>AGC	p.G537S		NM_001001417	NP_001001417	Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3B	537						intracellular	Rab GTPase activator activity				0		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)														---	---	---	---
SYNRG	11276	broad.mit.edu	37	17	35937667	35937667	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35937667T>C	uc002hoa.2	-	7	717	c.634A>G	c.(634-636)ACA>GCA	p.T212A	SYNRG_uc010wde.1_Intron|SYNRG_uc010wdf.1_Intron|SYNRG_uc002hoc.2_Intron|SYNRG_uc002hoe.2_Intron|SYNRG_uc002hod.2_Intron|SYNRG_uc010wdg.1_Intron|SYNRG_uc002hob.2_Missense_Mutation_p.T212A|SYNRG_uc002hof.2_5'Flank|SYNRG_uc010cvd.1_Intron|SYNRG_uc002hog.1_Missense_Mutation_p.T346A|SYNRG_uc010wdh.1_Missense_Mutation_p.T313A	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	synergin, gamma isoform 1	212					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2																		---	---	---	---
PLXDC1	57125	broad.mit.edu	37	17	37226124	37226124	+	Silent	SNP	C	T	T	rs61742536		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37226124C>T	uc002hrg.2	-	13	1580	c.1368G>A	c.(1366-1368)GCG>GCA	p.A456A	uc002hre.1_Intron|uc002hrf.1_Intron|PLXDC1_uc010cvr.1_Silent_p.A152A|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	456	Cytoplasmic (Potential).				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				ovary(1)|kidney(1)|skin(1)	3																OREG0024368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PLXDC1	57125	broad.mit.edu	37	17	37243922	37243922	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37243922C>T	uc002hrg.2	-	8	1057	c.845G>A	c.(844-846)CGC>CAC	p.R282H	uc002hrf.1_Intron|PLXDC1_uc010cvr.1_5'UTR|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	282	Extracellular (Potential).				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				ovary(1)|kidney(1)|skin(1)	3																		---	---	---	---
ERBB2	2064	broad.mit.edu	37	17	37866359	37866359	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37866359G>T	uc002hso.2	+	6	902	c.664G>T	c.(664-666)GGT>TGT	p.G222C	ERBB2_uc002hsm.2_Missense_Mutation_p.G192C|ERBB2_uc010cwa.2_Missense_Mutation_p.G207C|ERBB2_uc002hsp.2_Missense_Mutation_p.G25C|ERBB2_uc010cwb.2_Missense_Mutation_p.G222C|ERBB2_uc010wek.1_Intron|ERBB2_uc002hsl.2_Missense_Mutation_p.G192C|ERBB2_uc002hsn.1_Missense_Mutation_p.G222C	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	222	Extracellular (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			---	---	---	---
GRB7	2886	broad.mit.edu	37	17	37902012	37902012	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37902012T>C	uc002hsr.2	+	12	1491	c.1241T>C	c.(1240-1242)ATG>ACG	p.M414T	GRB7_uc002hss.2_Missense_Mutation_p.M414T|GRB7_uc010cwc.2_Missense_Mutation_p.M414T|GRB7_uc002hst.2_Missense_Mutation_p.M414T	NM_005310	NP_005301	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	414					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			lung(2)|ovary(1)|breast(1)|skin(1)	5	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|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)															---	---	---	---
GSDMA	284110	broad.mit.edu	37	17	38126776	38126776	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38126776A>C	uc002htl.1	+	4	552	c.434A>C	c.(433-435)GAT>GCT	p.D145A	GSDMA_uc002htm.1_Missense_Mutation_p.D145A	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	gasdermin 1	145					apoptosis|induction of apoptosis	perinuclear region of cytoplasm					0																		---	---	---	---
NR1D1	9572	broad.mit.edu	37	17	38252191	38252191	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38252191G>T	uc002htz.1	-	5	1380	c.754C>A	c.(754-756)CCC>ACC	p.P252T	NR1D1_uc010cwq.1_Intron|NR1D1_uc010cwr.1_Intron	NM_021724	NP_068370	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	252					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			skin(1)	1	Colorectal(19;0.000442)																	---	---	---	---
KRT24	192666	broad.mit.edu	37	17	38859493	38859493	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38859493C>A	uc002hvd.2	-	1	510	c.453G>T	c.(451-453)TTG>TTT	p.L151F		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	keratin 24	151	Rod.|Coil 1A.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.00526)																---	---	---	---
KRT13	3860	broad.mit.edu	37	17	39661394	39661394	+	Missense_Mutation	SNP	G	A	A	rs142183272		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39661394G>A	uc002hwu.1	-	1	472	c.409C>T	c.(409-411)CGT>TGT	p.R137C	KRT13_uc002hwv.1_Missense_Mutation_p.R137C|KRT13_uc002hww.2_Missense_Mutation_p.R30C|KRT13_uc010wfr.1_Missense_Mutation_p.R30C|KRT13_uc010cxo.2_Missense_Mutation_p.R137C|KRT13_uc002hwx.1_Missense_Mutation_p.R125C	NM_153490	NP_705694	P13646	K1C13_HUMAN	keratin 13 isoform a	137	Coil 1A.|Rod.				epidermis development	intermediate filament	structural molecule activity			ovary(2)|skin(2)|pancreas(1)	5		Breast(137;0.000286)																---	---	---	---
JUP	3728	broad.mit.edu	37	17	39925887	39925887	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39925887C>T	uc002hxq.2	-	3	528	c.251G>A	c.(250-252)CGG>CAG	p.R84Q	JUP_uc010wfs.1_Missense_Mutation_p.R84Q|JUP_uc002hxr.2_Missense_Mutation_p.R84Q|JUP_uc002hxs.2_Missense_Mutation_p.R84Q	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	84					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)														---	---	---	---
STAT5B	6777	broad.mit.edu	37	17	40362289	40362289	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40362289C>A	uc002hzh.2	-	15	1975	c.1806G>T	c.(1804-1806)CAG>CAT	p.Q602H		NM_012448	NP_036580	P51692	STA5B_HUMAN	signal transducer and activator of transcription	602	SH2.				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			ovary(3)|lung(2)|skin(1)	6		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)													---	---	---	---
TUBG2	27175	broad.mit.edu	37	17	40815443	40815443	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40815443C>T	uc010wgr.1	+	6	784	c.528C>T	c.(526-528)GAC>GAT	p.D176D	TUBG2_uc002iaq.2_Silent_p.D18D|TUBG2_uc002iar.2_Silent_p.D23D|TUBG2_uc002ias.2_Silent_p.D18D|TUBG2_uc002iap.2_Silent_p.D23D	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	176					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)														---	---	---	---
GRN	2896	broad.mit.edu	37	17	42430105	42430105	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42430105G>A	uc002igp.1	+	13	1940	c.1721G>A	c.(1720-1722)CGC>CAC	p.R574H	GRN_uc002igr.1_3'UTR	NM_002087	NP_002078	P28799	GRN_HUMAN	granulin precursor	574					signal transduction	extracellular space	cytokine activity|growth factor activity			ovary(2)|central_nervous_system(2)|skin(1)	5		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)														---	---	---	---
DBF4B	80174	broad.mit.edu	37	17	42824762	42824762	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42824762C>T	uc002ihf.2	+	12	1156	c.943C>T	c.(943-945)CTT>TTT	p.L315F	DBF4B_uc002ihe.2_Missense_Mutation_p.L129F|DBF4B_uc010wjc.1_Missense_Mutation_p.L299F	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B isoform 1	315	DBF4-type.				cell cycle	nucleus	nucleic acid binding|zinc ion binding				0		Prostate(33;0.0322)																---	---	---	---
STH	246744	broad.mit.edu	37	17	44076862	44076862	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:44076862A>G	uc002ijy.2	+	1	247	c.217A>G	c.(217-219)ATT>GTT	p.I73V	MAPT_uc010dau.2_Intron|MAPT_uc002ijr.3_Intron|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	NM_001007532	NP_001007533	Q8IWL8	STH_HUMAN	saitohin	73						cytoplasm|nucleus					0																		---	---	---	---
B4GALNT2	124872	broad.mit.edu	37	17	47233956	47233956	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47233956C>T	uc002ion.2	+	5	728	c.669C>T	c.(667-669)CCC>CCT	p.P223P	B4GALNT2_uc010wlt.1_Silent_p.P137P|B4GALNT2_uc010wlu.1_Silent_p.P163P	NM_153446	NP_703147	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	223	Lumenal (Potential).				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			large_intestine(1)|ovary(1)	2			all cancers(6;0.000316)															---	---	---	---
CACNA1G	8913	broad.mit.edu	37	17	48704077	48704077	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48704077G>A	uc002irk.1	+	38	7471	c.7099G>A	c.(7099-7101)GGT>AGT	p.G2367S	CACNA1G_uc002irj.1_Missense_Mutation_p.G2161S|CACNA1G_uc002irl.1_Missense_Mutation_p.G2251S|CACNA1G_uc002irm.1_Missense_Mutation_p.G2288S|CACNA1G_uc002irn.1_Missense_Mutation_p.G2233S|CACNA1G_uc002iro.1_Missense_Mutation_p.G2240S|CACNA1G_uc002irp.1_Missense_Mutation_p.G2322S|CACNA1G_uc002irq.1_Missense_Mutation_p.G2344S|CACNA1G_uc002irr.1_Missense_Mutation_p.G2274S|CACNA1G_uc002irs.1_Missense_Mutation_p.G2311S|CACNA1G_uc002irt.1_Missense_Mutation_p.G2256S|CACNA1G_uc002irv.1_Missense_Mutation_p.G2263S|CACNA1G_uc002irw.1_Missense_Mutation_p.G2296S|CACNA1G_uc002iru.1_Missense_Mutation_p.G2333S|CACNA1G_uc002irx.1_Missense_Mutation_p.G2108S|CACNA1G_uc002iry.1_Missense_Mutation_p.G2097S|CACNA1G_uc002irz.1_Missense_Mutation_p.G2180S|CACNA1G_uc002isa.1_Missense_Mutation_p.G2153S|CACNA1G_uc002isb.1_Missense_Mutation_p.G2194S|CACNA1G_uc002isc.1_Missense_Mutation_p.G2269S|CACNA1G_uc002isd.1_Missense_Mutation_p.G2162S|CACNA1G_uc002ise.1_Missense_Mutation_p.G2190S|CACNA1G_uc002isf.1_Missense_Mutation_p.G2217S|CACNA1G_uc002isg.1_Missense_Mutation_p.G2135S|CACNA1G_uc002ish.1_Missense_Mutation_p.G2142S|CACNA1G_uc002isi.1_Missense_Mutation_p.G2130S	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	2367	Cytoplasmic (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)											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CA10	56934	broad.mit.edu	37	17	49825029	49825029	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:49825029C>T	uc002itw.3	-	4	1415	c.429G>A	c.(427-429)TCG>TCA	p.S143S	CA10_uc002itu.3_Silent_p.S72S|CA10_uc002itv.3_Silent_p.S149S|CA10_uc002itx.3_Silent_p.S143S|CA10_uc002ity.3_Silent_p.S143S|CA10_uc002itz.2_Silent_p.S143S	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	143					brain development					ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)															---	---	---	---
RPS6KB1	6198	broad.mit.edu	37	17	58013600	58013600	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:58013600C>T	uc002ixy.2	+	11	1106	c.1003C>T	c.(1003-1005)CGT>TGT	p.R335C	RPS6KB1_uc010ddj.1_Missense_Mutation_p.R335C|RPS6KB1_uc010wom.1_Missense_Mutation_p.R282C|RPS6KB1_uc010won.1_Missense_Mutation_p.R312C|RPS6KB1_uc010woo.1_Missense_Mutation_p.R270C	NM_003161	NP_003152	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide	335	Protein kinase.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			large_intestine(1)	1	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)															---	---	---	---
FTSJ3	117246	broad.mit.edu	37	17	61902275	61902275	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61902275A>G	uc002jbz.2	-	8	804	c.726T>C	c.(724-726)GCT>GCC	p.A242A	FTSJ3_uc002jca.2_Silent_p.A242A|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	242					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			ovary(1)	1																		---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62022940	62022940	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62022940C>T	uc002jds.1	-	19	3577	c.3500G>A	c.(3499-3501)TGC>TAC	p.C1167Y		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1167	III.|Helical; Name=S5 of repeat III; (Potential).				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)													---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62050177	62050177	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62050177G>T	uc002jds.1	-	1	102	c.25C>A	c.(25-27)CTG>ATG	p.L9M		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	9					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)													---	---	---	---
SMURF2	64750	broad.mit.edu	37	17	62594568	62594568	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62594568A>G	uc002jep.1	-	3	520	c.132T>C	c.(130-132)TCT>TCC	p.S44S	SMURF2_uc002jeq.1_5'UTR|SMURF2_uc002jer.1_5'UTR	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	44	C2.				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)															---	---	---	---
LRRC37A3	374819	broad.mit.edu	37	17	62855982	62855982	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62855982C>T	uc002jey.2	-	11	4813	c.4282G>A	c.(4282-4284)GCT>ACT	p.A1428T	LRRC37A3_uc010wqg.1_Missense_Mutation_p.A546T|LRRC37A3_uc002jex.1_Missense_Mutation_p.A405T|LRRC37A3_uc010wqf.1_Missense_Mutation_p.A466T|LRRC37A3_uc010dek.1_Missense_Mutation_p.A434T	NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1428	Extracellular (Potential).					integral to membrane					0																		---	---	---	---
CCDC46	201134	broad.mit.edu	37	17	63923699	63923699	+	Splice_Site	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:63923699C>T	uc002jfl.2	-	19	2199	c.1980_splice	c.e19+1	p.Q660_splice	CCDC46_uc010deo.2_Splice_Site_p.Q402_splice|CCDC46_uc002jfm.2_Splice_Site_p.Q660_splice|CCDC46_uc010dep.2_Splice_Site_p.Q618_splice	NM_145036	NP_659473			coiled-coil domain containing 46 isoform a							centrosome					0			BRCA - Breast invasive adenocarcinoma(6;1.53e-06)															---	---	---	---
KPNA2	3838	broad.mit.edu	37	17	66040600	66040600	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:66040600C>T	uc002jgk.2	+	9	1460	c.1328C>T	c.(1327-1329)GCC>GTC	p.A443V	KPNA2_uc002jgl.2_Missense_Mutation_p.A443V	NM_002266	NP_002257	P52292	IMA2_HUMAN	karyopherin alpha 2	443	ARM 9.				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)															---	---	---	---
TMEM104	54868	broad.mit.edu	37	17	72832176	72832176	+	Missense_Mutation	SNP	G	A	A	rs142754433	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72832176G>A	uc002jls.3	+	10	1003	c.841G>A	c.(841-843)GTC>ATC	p.V281I	TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.2_Missense_Mutation_p.V281I	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	transmembrane protein 104	281	Helical; (Potential).					integral to membrane					0	all_lung(278;0.23)																	---	---	---	---
GRIN2C	2905	broad.mit.edu	37	17	72846360	72846360	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72846360G>A	uc002jlt.1	-	6	1632	c.1476C>T	c.(1474-1476)AAC>AAT	p.N492N	GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Silent_p.N492N	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	492	Extracellular (Potential).				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			ovary(2)|breast(2)	4	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)													---	---	---	---
OTOP3	347741	broad.mit.edu	37	17	72942899	72942899	+	Missense_Mutation	SNP	C	T	T	rs147825590	byFrequency	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72942899C>T	uc010wrr.1	+	6	949	c.949C>T	c.(949-951)CGC>TGC	p.R317C	OTOP3_uc010wrq.1_Missense_Mutation_p.R299C	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	otopetrin 3	317						integral to membrane|intracellular	zinc ion binding			ovary(1)	1	all_lung(278;0.151)|Lung NSC(278;0.185)																	---	---	---	---
CASKIN2	57513	broad.mit.edu	37	17	73500034	73500034	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73500034C>T	uc002joc.2	-	15	2027	c.1477G>A	c.(1477-1479)GCC>ACC	p.A493T	CASKIN2_uc010wsc.1_Missense_Mutation_p.A411T	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	cask-interacting protein 2 isoform a	493	SAM 1.					cytoplasm				pancreas(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)															---	---	---	---
EVPL	2125	broad.mit.edu	37	17	74005246	74005246	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74005246G>A	uc002jqi.2	-	22	4268	c.4040C>T	c.(4039-4041)GCG>GTG	p.A1347V	EVPL_uc010wss.1_Missense_Mutation_p.A1369V|EVPL_uc010wst.1_Missense_Mutation_p.A817V	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1347	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
BIRC5	332	broad.mit.edu	37	17	76219627	76219627	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76219627A>G	uc002jvg.2	+	4	542	c.421A>G	c.(421-423)ATG>GTG	p.M141V	BIRC5_uc002jvf.2_Missense_Mutation_p.M164V|BIRC5_uc002jvh.2_Silent_p.P101P|BIRC5_uc002jvi.2_RNA|EPR1_uc002jvj.1_RNA	NM_001168	NP_001159	O15392	BIRC5_HUMAN	baculoviral IAP repeat-containing protein 5	141					anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|midbody|nuclear chromosome|spindle|spindle microtubule	caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding			kidney(1)	1			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)															---	---	---	---
PGS1	9489	broad.mit.edu	37	17	76400143	76400143	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76400143C>T	uc002jvm.2	+	7	1387	c.1375C>T	c.(1375-1377)CGG>TGG	p.R459W	PGS1_uc010wtt.1_RNA|PGS1_uc010dho.2_RNA|PGS1_uc002jvn.2_Missense_Mutation_p.R172W|PGS1_uc002jvo.2_RNA|PGS1_uc002jvp.1_Missense_Mutation_p.R172W	NM_024419	NP_077733	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	459					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity				0			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)															---	---	---	---
ENPP7	339221	broad.mit.edu	37	17	77709383	77709383	+	Missense_Mutation	SNP	C	T	T	rs148221256	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:77709383C>T	uc002jxa.2	+	3	961	c.941C>T	c.(940-942)GCG>GTG	p.A314V		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	314					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			central_nervous_system(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)															---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78320622	78320622	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78320622G>A	uc002jyh.1	+	4	2929	c.2706G>A	c.(2704-2706)CAG>CAA	p.Q902Q		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)															---	---	---	---
BAIAP2	10458	broad.mit.edu	37	17	79060288	79060288	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79060288G>A	uc002jzg.2	+	6	505	c.397G>A	c.(397-399)GCC>ACC	p.A133T	BAIAP2_uc002jyz.3_Missense_Mutation_p.A133T|BAIAP2_uc002jza.2_Missense_Mutation_p.A133T|BAIAP2_uc002jzc.2_Missense_Mutation_p.A133T|BAIAP2_uc002jzb.2_5'UTR|BAIAP2_uc002jzd.2_Missense_Mutation_p.A133T|BAIAP2_uc002jzf.2_Missense_Mutation_p.A133T|BAIAP2_uc002jze.2_Missense_Mutation_p.A166T|BAIAP2_uc010wuh.1_Missense_Mutation_p.A55T|BAIAP2_uc002jzh.2_Missense_Mutation_p.A134T	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2 isoform 2	133	IMD.|Potential.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding				0	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)															---	---	---	---
BAIAP2	10458	broad.mit.edu	37	17	79078359	79078359	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79078359T>C	uc002jzg.2	+	10	1220	c.1112T>C	c.(1111-1113)CTG>CCG	p.L371P	BAIAP2_uc002jyz.3_Missense_Mutation_p.L371P|BAIAP2_uc002jza.2_Missense_Mutation_p.L371P|BAIAP2_uc002jzc.2_Missense_Mutation_p.L372P|BAIAP2_uc002jzb.2_Missense_Mutation_p.L128P|BAIAP2_uc002jzd.2_Missense_Mutation_p.L371P|BAIAP2_uc002jzf.2_Missense_Mutation_p.L371P|BAIAP2_uc002jze.2_Missense_Mutation_p.L404P|BAIAP2_uc010wuh.1_Missense_Mutation_p.L293P|BAIAP2_uc002jzh.2_Missense_Mutation_p.L372P|BAIAP2_uc010wui.1_Missense_Mutation_p.L234P	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2 isoform 2	371					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding				0	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)															---	---	---	---
PYCR1	5831	broad.mit.edu	37	17	79892203	79892203	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79892203G>A	uc002kcr.1	-	6	1074	c.796C>T	c.(796-798)CGG>TGG	p.R266W	PYCR1_uc002kcq.1_Intron|PYCR1_uc002kcp.2_Missense_Mutation_p.R266W|PYCR1_uc002kcs.1_Intron|PYCR1_uc010wvd.1_Missense_Mutation_p.R293W|PYCR1_uc002kct.1_Missense_Mutation_p.R266W|PYCR1_uc002kcu.1_Missense_Mutation_p.R235W|PYCR1_uc010wve.1_Missense_Mutation_p.R187W	NM_006907	NP_008838	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1 isoform 1	266			R -> Q (in ARCL2B; may cause skipping of exon 6).		cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)													---	---	---	---
DUS1L	64118	broad.mit.edu	37	17	80017900	80017900	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80017900G>A	uc002kdq.2	-	10	1511	c.1092C>T	c.(1090-1092)GGC>GGT	p.G364G	DUS1L_uc002kdp.2_Silent_p.G233G|DUS1L_uc002kdr.2_Silent_p.G364G|DUS1L_uc002kds.2_RNA|DUS1L_uc002kdt.2_RNA	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	PP3111 protein	364					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			skin(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)															---	---	---	---
TBCD	6904	broad.mit.edu	37	17	80828180	80828180	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80828180G>A	uc002kfz.2	+	14	1529	c.1399G>A	c.(1399-1401)GCC>ACC	p.A467T	TBCD_uc002kfx.1_Missense_Mutation_p.A450T|TBCD_uc002kfy.1_Missense_Mutation_p.A467T	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	467					'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)															---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	6942108	6942108	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:6942108G>A	uc002knm.2	-	63	9292	c.9198C>T	c.(9196-9198)TTC>TTT	p.F3066F	LAMA1_uc002knk.2_Silent_p.F396F|LAMA1_uc002knl.2_Silent_p.F519F|LAMA1_uc010wzj.1_Silent_p.F2542F	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	3066	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	6949117	6949117	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:6949117C>T	uc002knm.2	-	59	8633	c.8539G>A	c.(8539-8541)GCC>ACC	p.A2847T	LAMA1_uc002knk.2_Missense_Mutation_p.A177T|LAMA1_uc002knl.2_Missense_Mutation_p.A300T|LAMA1_uc010wzj.1_Missense_Mutation_p.A2323T	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2847	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	6985243	6985243	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:6985243G>T	uc002knm.2	-	39	5747	c.5653C>A	c.(5653-5655)CTG>ATG	p.L1885M	LAMA1_uc010wzj.1_Missense_Mutation_p.L1361M	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1885	Domain II and I.				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	7014008	7014008	+	Missense_Mutation	SNP	C	T	T	rs141907708		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:7014008C>T	uc002knm.2	-	23	3263	c.3169G>A	c.(3169-3171)GAT>AAT	p.D1057N	LAMA1_uc010wzj.1_Missense_Mutation_p.D533N	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1057	Laminin EGF-like 12.				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	7049221	7049221	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:7049221A>G	uc002knm.2	-	5	718	c.624T>C	c.(622-624)GCT>GCC	p.A208A	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	208	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)													---	---	---	---
KIAA0802	23255	broad.mit.edu	37	18	8718506	8718506	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:8718506C>T	uc002knr.2	+	3	200	c.58C>T	c.(58-60)CGG>TGG	p.R20W	KIAA0802_uc002knq.2_Missense_Mutation_p.R20W	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	371	Potential.										0																		---	---	---	---
ANKRD12	23253	broad.mit.edu	37	18	9258243	9258243	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:9258243C>T	uc002knv.2	+	9	5235	c.4978C>T	c.(4978-4980)CCA>TCA	p.P1660S	ANKRD12_uc002knw.2_Missense_Mutation_p.P1637S|ANKRD12_uc002knx.2_Missense_Mutation_p.P1637S|ANKRD12_uc010dkx.1_Missense_Mutation_p.P1367S	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	1660						nucleus				ovary(2)|central_nervous_system(1)	3																		---	---	---	---
FAM38B	63895	broad.mit.edu	37	18	10677801	10677801	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:10677801C>T	uc002kor.3	-	11	1696	c.1556G>A	c.(1555-1557)CGA>CAA	p.R519Q	FAM38B_uc002koq.2_Missense_Mutation_p.R354Q	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2562						integral to membrane	ion channel activity			ovary(1)	1																		---	---	---	---
TUBB6	84617	broad.mit.edu	37	18	12325183	12325183	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:12325183G>A	uc002kqw.2	+	4	440	c.395G>A	c.(394-396)GGC>GAC	p.G132D	TUBB6_uc002kqv.2_Missense_Mutation_p.G60D|TUBB6_uc010dld.2_RNA|TUBB6_uc002kqx.2_Missense_Mutation_p.G95D|TUBB6_uc002kqy.2_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	tubulin, beta 6	132					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0				READ - Rectum adenocarcinoma(1;0.0649)														---	---	---	---
ZNF521	25925	broad.mit.edu	37	18	22669475	22669475	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:22669475T>A	uc002kvk.2	-	7	4107	c.3860A>T	c.(3859-3861)GAC>GTC	p.D1287V	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.D1287V|ZNF521_uc002kvl.2_Missense_Mutation_p.D1067V	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	1287	C2H2-type 30.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)							T	PAX5	ALL								---	---	---	---
ZNF521	25925	broad.mit.edu	37	18	22806621	22806621	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:22806621G>T	uc002kvk.2	-	4	1508	c.1261C>A	c.(1261-1263)CTG>ATG	p.L421M	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.L421M|ZNF521_uc002kvl.2_Missense_Mutation_p.L201M	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	421	C2H2-type 9; degenerate.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)							T	PAX5	ALL								---	---	---	---
SLC39A6	25800	broad.mit.edu	37	18	33704629	33704629	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:33704629C>T	uc010dmy.2	-	3	1114	c.824G>A	c.(823-825)GGC>GAC	p.G275D	SLC39A6_uc002kzj.2_5'UTR	NM_012319	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter),	275	Extracellular (Potential).					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			ovary(1)|pancreas(1)	2																		---	---	---	---
MOCOS	55034	broad.mit.edu	37	18	33795561	33795561	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:33795561C>T	uc002kzq.3	+	8	1441	c.1418C>T	c.(1417-1419)TCG>TTG	p.S473L		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	473					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	34156416	34156416	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:34156416T>C	uc002kzt.1	+	6	611	c.514T>C	c.(514-516)TTG>CTG	p.L172L	FHOD3_uc002kzr.1_Silent_p.L172L|FHOD3_uc002kzs.1_Silent_p.L172L|FHOD3_uc002kzu.1_5'UTR	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	172	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)																---	---	---	---
FHOD3	80206	broad.mit.edu	37	18	34340622	34340622	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:34340622C>T	uc002kzt.1	+	22	3998	c.3901C>T	c.(3901-3903)CTG>TTG	p.L1301L	FHOD3_uc002kzs.1_Silent_p.L1318L|FHOD3_uc010dmz.1_Silent_p.L1033L|FHOD3_uc010dnb.1_Intron	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1301					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)																---	---	---	---
CELF4	56853	broad.mit.edu	37	18	34833784	34833784	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:34833784C>T	uc002lae.2	-	12	1847	c.1451G>A	c.(1450-1452)CGC>CAC	p.R484H	CELF4_uc010dnd.1_Missense_Mutation_p.R482H|CELF4_uc002lag.2_Missense_Mutation_p.R446H|CELF4_uc002laf.2_Missense_Mutation_p.R478H	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	484					embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			ovary(2)	2																		---	---	---	---
KIAA1632	57724	broad.mit.edu	37	18	43481065	43481065	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43481065C>T	uc002lbm.2	-	26	4642	c.4542G>A	c.(4540-4542)CCG>CCA	p.P1514P	KIAA1632_uc010xcq.1_Silent_p.P68P|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Silent_p.P389P	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1514					autophagy						0																		---	---	---	---
CXXC1	30827	broad.mit.edu	37	18	47809282	47809282	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:47809282C>T	uc002leq.3	-	14	2499	c.1766G>A	c.(1765-1767)CGC>CAC	p.R589H	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_uc010dox.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.3_Missense_Mutation_p.R446H|CXXC1_uc002ler.3_Missense_Mutation_p.R593H|CXXC1_uc010doy.2_Missense_Mutation_p.A577T	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	589					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																		---	---	---	---
MRO	83876	broad.mit.edu	37	18	48333094	48333094	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:48333094C>T	uc002lew.3	-	4	520	c.226G>A	c.(226-228)GCC>ACC	p.A76T	MRO_uc010xdn.1_Missense_Mutation_p.A76T|MRO_uc010dpa.2_Missense_Mutation_p.A90T|MRO_uc010dpb.2_Missense_Mutation_p.A90T|MRO_uc010dpc.2_Missense_Mutation_p.A76T|MRO_uc002lex.3_Missense_Mutation_p.A76T	NM_031939	NP_114145	Q9BYG7	MSTRO_HUMAN	maestro isoform a	76						nucleolus	binding				0		Colorectal(6;0.0596)		Colorectal(21;0.082)														---	---	---	---
DCC	1630	broad.mit.edu	37	18	51013231	51013231	+	Silent	SNP	T	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:51013231T>A	uc002lfe.1	+	26	4388	c.3801T>A	c.(3799-3801)TCT>TCA	p.S1267S	DCC_uc010dpf.1_Silent_p.S902S	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1267	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)														---	---	---	---
CDH20	28316	broad.mit.edu	37	18	59206270	59206270	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:59206270G>T	uc010dps.1	+	8	1434	c.1422G>T	c.(1420-1422)CAG>CAT	p.Q474H	CDH20_uc002lif.2_Missense_Mutation_p.Q468H	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	474	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)																---	---	---	---
CDH19	28513	broad.mit.edu	37	18	64239444	64239444	+	5'UTR	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:64239444C>T	uc002lkc.1	-	2					CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_5'UTR|CDH19_uc002lkd.2_5'UTR	NM_021153	NP_066976			cadherin 19, type 2 preproprotein						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2		Esophageal squamous(42;0.0132)																---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67817279	67817279	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67817279T>C	uc002lkp.2	-	16	2168	c.2100A>G	c.(2098-2100)GGA>GGG	p.G700G	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	700							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)																---	---	---	---
CNDP1	84735	broad.mit.edu	37	18	72229273	72229273	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:72229273T>C	uc002llq.2	+						uc002llr.2_5'Flank	NM_032649	NP_116038			carnosinase 1 precursor						proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity				0		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)														---	---	---	---
ZNF407	55628	broad.mit.edu	37	18	72589255	72589255	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:72589255G>A	uc002llw.2	+	4	5037	c.4980G>A	c.(4978-4980)TGG>TGA	p.W1660*	ZNF407_uc010dqu.1_Nonsense_Mutation_p.W1660*	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	1660	C2H2-type 18.				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)														---	---	---	---
NFATC1	4772	broad.mit.edu	37	18	77170867	77170867	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:77170867G>A	uc010xfg.1	+	2	1045	c.592G>A	c.(592-594)GCG>ACG	p.A198T	NFATC1_uc002lnc.1_Missense_Mutation_p.A198T|NFATC1_uc010xff.1_Missense_Mutation_p.A198T|NFATC1_uc002lnd.2_Missense_Mutation_p.A198T|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Missense_Mutation_p.A198T|NFATC1_uc010xfi.1_Missense_Mutation_p.A185T|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Missense_Mutation_p.A185T|NFATC1_uc002lng.2_Missense_Mutation_p.A185T|NFATC1_uc010xfk.1_Missense_Mutation_p.A185T	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	198	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)														---	---	---	---
PTBP1	5725	broad.mit.edu	37	19	805056	805056	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:805056G>A	uc002lpr.2	+	8	867	c.761G>A	c.(760-762)CGC>CAC	p.R254H	PTBP1_uc002lpp.2_Missense_Mutation_p.R254H|PTBP1_uc002lpq.2_Missense_Mutation_p.R254H|PTBP1_uc002lps.2_Intron|PTBP1_uc002lpt.2_RNA|PTBP1_uc002lpu.1_Missense_Mutation_p.R224H	NM_031991	NP_114368	P26599	PTBP1_HUMAN	polypyrimidine tract-binding protein 1 isoform	254	RRM 2.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			kidney(1)|skin(1)	2		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)														---	---	---	---
PTBP1	5725	broad.mit.edu	37	19	808629	808629	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:808629C>T	uc002lpr.2	+	12	1358	c.1252C>T	c.(1252-1254)CGC>TGC	p.R418C	PTBP1_uc002lpp.2_Missense_Mutation_p.R444C|PTBP1_uc002lpq.2_Missense_Mutation_p.R437C|PTBP1_uc002lps.2_Missense_Mutation_p.R84C|PTBP1_uc002lpt.2_RNA|PTBP1_uc002lpu.1_Missense_Mutation_p.R414C	NM_031991	NP_114368	P26599	PTBP1_HUMAN	polypyrimidine tract-binding protein 1 isoform	418					negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			kidney(1)|skin(1)	2		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)														---	---	---	---
C19orf22	91300	broad.mit.edu	37	19	902140	902140	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:902140G>A	uc002lqg.2	-						C19orf22_uc002lqh.2_Intron|C19orf22_uc002lqi.2_Intron|C19orf22_uc002lqj.2_Intron	NM_138774	NP_620129			hypothetical protein LOC91300							nucleus	nucleic acid binding			pancreas(1)	1		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)														---	---	---	---
SBNO2	22904	broad.mit.edu	37	19	1109760	1109760	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1109760G>A	uc002lrk.3	-	27	3283	c.3045C>T	c.(3043-3045)ATC>ATT	p.I1015I	SBNO2_uc002lri.3_5'Flank|SBNO2_uc002lrj.3_Silent_p.I958I|SBNO2_uc010dse.2_Silent_p.I998I|SBNO2_uc010xgj.1_Intron	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 isoform 1	1015					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent						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)														---	---	---	---
SBNO2	22904	broad.mit.edu	37	19	1123647	1123647	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1123647G>A	uc002lrk.3	-						SBNO2_uc002lrj.3_Intron|SBNO2_uc010dse.2_Intron|SBNO2_uc010xgj.1_Intron|SBNO2_uc010dsf.2_Intron	NM_014963	NP_055778			strawberry notch homolog 2 isoform 1						macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent						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)														---	---	---	---
MIDN	90007	broad.mit.edu	37	19	1257102	1257102	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1257102G>A	uc002lrp.2	+	8	1753	c.1238G>A	c.(1237-1239)CGG>CAG	p.R413Q		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	midnolin	413						nucleolus					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)														---	---	---	---
MUM1	84939	broad.mit.edu	37	19	1362336	1362336	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1362336T>C	uc010xgm.1	+	5	1268	c.1199T>C	c.(1198-1200)GTC>GCC	p.V400A	MUM1_uc010dsi.2_Missense_Mutation_p.V332A|MUM1_uc002lrz.2_Missense_Mutation_p.V401A|MUM1_uc002lsb.2_Missense_Mutation_p.V332A			Q2TAK8	MUM1_HUMAN	SubName: Full=MUM1 protein;	400					chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding				0		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;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)														---	---	---	---
DAZAP1	26528	broad.mit.edu	37	19	1432615	1432615	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1432615C>T	uc002lsn.2	+	11	1163	c.974C>T	c.(973-975)CCG>CTG	p.P325L	DAZAP1_uc002lsm.2_Missense_Mutation_p.P325L|DAZAP1_uc002lso.2_Missense_Mutation_p.P324L|DAZAP1_uc002lsl.1_Missense_Mutation_p.P325L	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1 isoform b	325	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)	1		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)														---	---	---	---
DOT1L	84444	broad.mit.edu	37	19	2222099	2222099	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2222099C>T	uc002lvb.3	+	24	2967	c.2931C>T	c.(2929-2931)ACC>ACT	p.T977T	DOT1L_uc002lvc.1_Silent_p.T271T|DOT1L_uc002lve.1_3'UTR	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	977						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)														---	---	---	---
PIP5K1C	23396	broad.mit.edu	37	19	3653503	3653503	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3653503C>T	uc002lyj.1	-	7	763	c.706G>A	c.(706-708)GTG>ATG	p.V236M	PIP5K1C_uc010xhq.1_Missense_Mutation_p.V236M|PIP5K1C_uc010xhr.1_Missense_Mutation_p.V236M	NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	236	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)														---	---	---	---
MATK	4145	broad.mit.edu	37	19	3779120	3779120	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3779120C>T	uc002lyt.2	-	12	1467	c.1067G>A	c.(1066-1068)CGC>CAC	p.R356H	MATK_uc002lyv.2_Missense_Mutation_p.R357H|MATK_uc002lyu.2_Missense_Mutation_p.R315H|MATK_uc010dtq.2_Missense_Mutation_p.R356H	NM_139355	NP_647612	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase isoform	356	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(2)|ovary(1)|lung(1)|large_intestine(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
ITGB1BP3	27231	broad.mit.edu	37	19	3941175	3941175	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3941175G>T	uc002lyz.3	+	7	792	c.502G>T	c.(502-504)GTC>TTC	p.V168F	ITGB1BP3_uc010xia.1_Missense_Mutation_p.V173F	NM_170678	NP_733778	Q9NPI5	NRK2_HUMAN	integrin beta 1 binding protein 3	168					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|protein binding|ribosylnicotinamide kinase activity			skin(2)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
C3	718	broad.mit.edu	37	19	6694500	6694500	+	Missense_Mutation	SNP	C	A	A	rs148698696		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6694500C>A	uc002mfm.2	-	24	3158	c.3096G>T	c.(3094-3096)GAG>GAT	p.E1032D	C3_uc002mfl.2_5'Flank	NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	1032				E->A: Impaired binding of C3d to CR2.	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)														---	---	---	---
SH2D3A	10045	broad.mit.edu	37	19	6754122	6754122	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6754122G>A	uc002mft.2	-	8	1519	c.1325C>T	c.(1324-1326)GCT>GTT	p.A442V	SH2D3A_uc010xjg.1_Missense_Mutation_p.A349V	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	442					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(2)	2																		---	---	---	---
ZNF358	140467	broad.mit.edu	37	19	7585732	7585732	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7585732A>G	uc002mgn.2	+	2	1774	c.1604A>G	c.(1603-1605)GAC>GGC	p.D535G	MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	zinc finger protein 358	535					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1																		---	---	---	---
PNPLA6	10908	broad.mit.edu	37	19	7626170	7626170	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7626170C>T	uc010xjq.1	+	33	4215	c.4020C>T	c.(4018-4020)CCC>CCT	p.P1340P	PNPLA6_uc002mgq.1_Silent_p.P1292P|PNPLA6_uc010xjp.1_Silent_p.P1265P|PNPLA6_uc002mgr.1_Silent_p.P1292P|PNPLA6_uc002mgs.2_Silent_p.P1330P|PNPLA6_uc002mgt.1_RNA	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	1331	Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3																		---	---	---	---
KIAA1543	57662	broad.mit.edu	37	19	7676000	7676000	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7676000C>T	uc002mgv.3	+	9	1170	c.1069C>T	c.(1069-1071)CGC>TGC	p.R357C	KIAA1543_uc002mgu.3_Missense_Mutation_p.R384C	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN	NEZHA isoform 2	357					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																		---	---	---	---
STXBP2	6813	broad.mit.edu	37	19	7709559	7709559	+	Silent	SNP	C	T	T	rs139160342	byFrequency	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7709559C>T	uc002mha.3	+	14	1212	c.1167C>T	c.(1165-1167)ATC>ATT	p.I389I	STXBP2_uc002mhb.3_Silent_p.I386I|STXBP2_uc010dvj.2_RNA|STXBP2_uc010xjr.1_Silent_p.I400I|STXBP2_uc010dvk.2_Silent_p.I357I|STXBP2_uc002mhc.3_Silent_p.I157I|STXBP2_uc002mhe.1_Silent_p.I17I	NM_006949	NP_008880	Q15833	STXB2_HUMAN	syntaxin binding protein 2 isoform a	389					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																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9063005	9063005	+	Silent	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9063005A>C	uc002mkp.2	-	3	24645	c.24441T>G	c.(24439-24441)ACT>ACG	p.T8147T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8149	Ser-rich.|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																		---	---	---	---
EIF3G	8666	broad.mit.edu	37	19	10226702	10226702	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10226702G>A	uc002mnd.2	-	8	708	c.644C>T	c.(643-645)CCG>CTG	p.P215L		NM_003755	NP_003746	O75821	EIF3G_HUMAN	eukaryotic translation initiation factor 3,	215						cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity				0			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)															---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10260288	10260288	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10260288G>A	uc002mng.2	-	25	2559	c.2379C>T	c.(2377-2379)CAC>CAT	p.H793H	DNMT1_uc010xlc.1_Silent_p.H809H|DNMT1_uc002mnh.2_Silent_p.H688H|DNMT1_uc010xld.1_Silent_p.H793H	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	793	BAH 1.				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	10432222	10432222	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10432222C>T	uc002moa.2	-	7	1377	c.1297G>A	c.(1297-1299)GGG>AGG	p.G433R		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	RAVER1	416	Pro-rich.					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)															---	---	---	---
ILF3	3609	broad.mit.edu	37	19	10798068	10798068	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10798068T>C	uc002mpn.2	+	18	2423	c.2106T>C	c.(2104-2106)GGT>GGC	p.G702G	ILF3_uc002mpo.2_Silent_p.G706G|ILF3_uc002mpq.2_Missense_Mutation_p.V5A	NM_012218	NP_036350	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3 isoform a	702	Poly-Gly.|Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding			ovary(3)	3			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)															---	---	---	---
QTRT1	81890	broad.mit.edu	37	19	10823277	10823277	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10823277C>T	uc002mpr.2	+	7	859	c.834C>T	c.(832-834)TTC>TTT	p.F278F	DNM2_uc010dxk.2_5'Flank	NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	278					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			skin(1)	1			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)															---	---	---	---
LDLR	3949	broad.mit.edu	37	19	11224051	11224051	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11224051C>T	uc002mqk.3	+	9	1452	c.1284C>T	c.(1282-1284)AAC>AAT	p.N428N	LDLR_uc010xlk.1_Silent_p.N428N|LDLR_uc010xll.1_Silent_p.N387N|LDLR_uc010xlm.1_Silent_p.N281N|LDLR_uc010xln.1_Silent_p.N301N|LDLR_uc010xlo.1_Silent_p.N260N	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	428	LDL-receptor class B 1.|Extracellular (Potential).				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			ovary(2)|skin(2)	4		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)													---	---	---	---
ZNF563	147837	broad.mit.edu	37	19	12429861	12429861	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12429861T>C	uc002mtp.2	-	4	1216	c.978A>G	c.(976-978)ATA>ATG	p.I326M		NM_145276	NP_660319	Q8TA94	ZN563_HUMAN	zinc finger protein 563	326	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
TNPO2	30000	broad.mit.edu	37	19	12826219	12826219	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12826219C>T	uc002muo.2	-	6	751	c.566G>A	c.(565-567)CGG>CAG	p.R189Q	TNPO2_uc002mup.2_Missense_Mutation_p.R281Q|TNPO2_uc002muq.2_Missense_Mutation_p.R189Q|TNPO2_uc002mur.2_Missense_Mutation_p.R189Q	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN	transportin 2 (importin 3, karyopherin beta 2b)	189	HEAT 2.				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			ovary(1)	1																		---	---	---	---
EPS15L1	58513	broad.mit.edu	37	19	16515388	16515388	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16515388C>T	uc002ndz.1	-						EPS15L1_uc002ndx.2_Intron|EPS15L1_uc002ndy.2_Intron|EPS15L1_uc010xpe.1_Intron|EPS15L1_uc010xpf.1_Intron|EPS15L1_uc002nea.1_Intron|EPS15L1_uc010eah.1_Intron|EPS15L1_uc002neb.1_Intron|EPS15L1_uc002nec.1_Intron	NM_021235	NP_067058			epidermal growth factor receptor pathway						endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			ovary(3)|skin(2)	5																		---	---	---	---
NWD1	284434	broad.mit.edu	37	19	16860328	16860328	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16860328C>T	uc002neu.3	+	6	1297	c.875C>T	c.(874-876)GCG>GTG	p.A292V	NWD1_uc002net.3_Missense_Mutation_p.A157V|NWD1_uc002nev.3_Missense_Mutation_p.A86V			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	292	WD 1.						ATP binding			skin(3)|ovary(2)|pancreas(2)	7																		---	---	---	---
MYO9B	4650	broad.mit.edu	37	19	17213125	17213125	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17213125G>A	uc010eak.2	+	2	750	c.598G>A	c.(598-600)GTG>ATG	p.V200M	MYO9B_uc002nfi.2_Missense_Mutation_p.V200M|MYO9B_uc002nfj.1_Missense_Mutation_p.V200M	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	200	Myosin head-like.				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																		---	---	---	---
GTPBP3	84705	broad.mit.edu	37	19	17449796	17449796	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17449796G>A	uc010eas.2	+	5	690	c.625G>A	c.(625-627)GGC>AGC	p.G209S	GTPBP3_uc010xpo.1_Missense_Mutation_p.G231S|GTPBP3_uc010ear.1_RNA|GTPBP3_uc002ngh.3_Missense_Mutation_p.G209S|GTPBP3_uc002ngg.3_Missense_Mutation_p.G209S|GTPBP3_uc002ngi.3_5'UTR	NM_032620	NP_116009	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial) isoform V	209					tRNA modification	mitochondrion	GTP binding|GTPase activity			skin(1)	1																		---	---	---	---
SLC27A1	376497	broad.mit.edu	37	19	17611367	17611367	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17611367A>G	uc002ngu.1	+	9	1447	c.1397A>G	c.(1396-1398)TAT>TGT	p.Y466C	SLC27A1_uc010xpp.1_Missense_Mutation_p.Y287C|SLC27A1_uc002ngv.1_Missense_Mutation_p.Y68C	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	solute carrier family 27, member 1	466	Sufficient for oligomerization (By similarity).|Cytoplasmic (Potential).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding				0																		---	---	---	---
GLT25D1	79709	broad.mit.edu	37	19	17692195	17692195	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17692195C>G	uc002nhc.1	+	12	1823	c.1811C>G	c.(1810-1812)GCC>GGC	p.A604G	GLT25D1_uc010eay.1_Intron	NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN	glycosyltransferase 25 domain containing 1	604					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity				0																		---	---	---	---
FCHO1	23149	broad.mit.edu	37	19	17886908	17886908	+	Missense_Mutation	SNP	G	A	A	rs148410831	byFrequency	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17886908G>A	uc010ebb.2	+	15	1309	c.1120G>A	c.(1120-1122)GAG>AAG	p.E374K	FCHO1_uc002nhg.3_Missense_Mutation_p.E374K|FCHO1_uc002nhh.2_Missense_Mutation_p.E374K|FCHO1_uc010xpw.1_Missense_Mutation_p.E324K|FCHO1_uc002nhi.2_5'Flank|FCHO1_uc002nhj.2_5'Flank	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN	FCH domain only 1 isoform b	374										breast(1)	1																		---	---	---	---
B3GNT3	10331	broad.mit.edu	37	19	17919127	17919127	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17919127G>A	uc002nhk.1	+	2	596	c.511G>A	c.(511-513)GGA>AGA	p.G171R	B3GNT3_uc002nhl.1_Missense_Mutation_p.G171R|B3GNT3_uc010ebd.1_Missense_Mutation_p.G171R|B3GNT3_uc010ebe.1_Missense_Mutation_p.G171R	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal	171	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
ATP13A1	57130	broad.mit.edu	37	19	19758041	19758041	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19758041C>T	uc002nnh.3	-	22	3030	c.3002G>A	c.(3001-3003)AGC>AAC	p.S1001N	ATP13A1_uc002nne.2_Missense_Mutation_p.S141N|ATP13A1_uc002nnf.3_Missense_Mutation_p.S369N|ATP13A1_uc002nng.2_Missense_Mutation_p.S883N	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	1001	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																		---	---	---	---
ZNF43	7594	broad.mit.edu	37	19	21991137	21991137	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21991137A>C	uc002nqj.2	-	4	1832	c.1702T>G	c.(1702-1704)TGT>GGT	p.C568G	ZNF43_uc010ecv.2_Missense_Mutation_p.C562G|ZNF43_uc002nql.2_Missense_Mutation_p.C562G|ZNF43_uc002nqm.2_Missense_Mutation_p.C562G|ZNF43_uc002nqk.2_Missense_Mutation_p.C498G	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	568	C2H2-type 15.				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)														---	---	---	---
ZNF43	7594	broad.mit.edu	37	19	21992108	21992108	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21992108C>T	uc002nqj.2	-	4	861	c.731G>A	c.(730-732)CGC>CAC	p.R244H	ZNF43_uc010ecv.2_Missense_Mutation_p.R238H|ZNF43_uc002nql.2_Missense_Mutation_p.R238H|ZNF43_uc002nqm.2_Missense_Mutation_p.R238H|ZNF43_uc002nqk.2_Missense_Mutation_p.R174H	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	244	C2H2-type 3; degenerate.		R -> C (in a colorectal cancer sample; somatic mutation).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R244C(1)		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)														---	---	---	---
C19orf12	83636	broad.mit.edu	37	19	30193763	30193763	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:30193763G>A	uc002nsk.2	-	3	713	c.282C>T	c.(280-282)GCC>GCT	p.A94A	C19orf12_uc002nsj.2_Silent_p.A105A|C19orf12_uc002nsl.2_3'UTR|C19orf12_uc002nsm.2_RNA	NM_031448	NP_113636	Q9NSK7	CS012_HUMAN	hypothetical protein LOC83636 isoform 2	94						integral to membrane					0	Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)															---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	30934972	30934972	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:30934972C>T	uc002nsu.1	+	2	641	c.503C>T	c.(502-504)GCG>GTG	p.A168V	ZNF536_uc010edd.1_Missense_Mutation_p.A168V	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	168	C2H2-type 2.				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)																	---	---	---	---
LSM14A	26065	broad.mit.edu	37	19	34712518	34712518	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:34712518C>A	uc002nvb.3	+	9	1439	c.1243C>A	c.(1243-1245)CTT>ATT	p.L415I	LSM14A_uc002nva.3_Missense_Mutation_p.L415I|LSM14A_uc010xru.1_Missense_Mutation_p.L374I|LSM14A_uc002nvc.3_Missense_Mutation_p.L221I	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	LSM14 homolog A isoform a	415					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				skin(1)	1	Esophageal squamous(110;0.162)																	---	---	---	---
HPN	3249	broad.mit.edu	37	19	35556774	35556774	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35556774C>T	uc002nxq.1	+	13	1298	c.1053C>T	c.(1051-1053)GGC>GGT	p.G351G	HPN_uc002nxr.1_Silent_p.G351G|HPN_uc002nxs.1_Silent_p.G193G|HPN_uc010xsh.1_Silent_p.G320G|HPN_uc002nxt.1_Silent_p.G235G|LOC100128675_uc010xsi.1_Intron	NM_002151	NP_002142	P05981	HEPS_HUMAN	hepsin	351	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)													---	---	---	---
LSR	51599	broad.mit.edu	37	19	35752847	35752847	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35752847T>C	uc002nyl.2	+	4	961	c.738T>C	c.(736-738)GCT>GCC	p.A246A	LSR_uc002nym.2_Intron|LSR_uc002nyn.2_Intron|LSR_uc002nyo.2_Intron|LSR_uc010xsr.1_Intron|LSR_uc002nyp.2_Silent_p.A209A	NM_205834	NP_991403	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	246	Extracellular (Potential).				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity				0	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)															---	---	---	---
MAG	4099	broad.mit.edu	37	19	35800926	35800926	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35800926G>A	uc002nyy.1	+	8	1530	c.1381G>A	c.(1381-1383)GTG>ATG	p.V461M	MAG_uc002nyx.1_Missense_Mutation_p.V461M|MAG_uc010eds.1_Missense_Mutation_p.V436M|MAG_uc002nyz.1_Missense_Mutation_p.V461M	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	461	Ig-like C2-type 4.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)															---	---	---	---
FFAR3	2865	broad.mit.edu	37	19	35850476	35850476	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35850476G>A	uc002nzd.2	+	2	759	c.684G>A	c.(682-684)GCG>GCA	p.A228A	FFAR3_uc010xsu.1_Intron	NM_005304	NP_005295	O14843	FFAR3_HUMAN	free fatty acid receptor 3	228	Helical; Name=6; (Potential).					integral to plasma membrane	G-protein coupled receptor activity|lipid binding				0	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)															---	---	---	---
MLL4	9757	broad.mit.edu	37	19	36211852	36211852	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36211852C>T	uc010eei.2	+	3	1603	c.1603C>T	c.(1603-1605)CGC>TGC	p.R535C		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	535	Pro-rich.				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)															---	---	---	---
WDR62	284403	broad.mit.edu	37	19	36594727	36594727	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36594727G>T	uc002odc.2	+	30	4073	c.3982G>T	c.(3982-3984)GAA>TAA	p.E1328*	WDR62_uc002odd.2_Nonsense_Mutation_p.E1333*	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	1328					cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)															---	---	---	---
ZNF565	147929	broad.mit.edu	37	19	36686014	36686014	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36686014T>A	uc002odn.2	-	3	162	c.54A>T	c.(52-54)GAA>GAT	p.E18D	ZNF565_uc010ees.2_Translation_Start_Site|ZNF565_uc002odo.2_Missense_Mutation_p.E18D|ZNF565_uc002odp.1_Missense_Mutation_p.E18D	NM_152477	NP_689690	Q8N9K5	ZN565_HUMAN	zinc finger protein 565	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)															---	---	---	---
HKR1	284459	broad.mit.edu	37	19	37854405	37854405	+	Silent	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37854405A>C	uc002ogb.2	+	6	1977	c.1708A>C	c.(1708-1710)AGG>CGG	p.R570R	HKR1_uc002ofx.2_Silent_p.R286R|HKR1_uc002ofy.2_Silent_p.R286R|HKR1_uc002oga.2_Silent_p.R552R|HKR1_uc010xto.1_Silent_p.R552R|HKR1_uc002ogc.2_Silent_p.R551R|HKR1_uc010xtp.1_Silent_p.R509R|HKR1_uc002ogd.2_Silent_p.R509R	NM_181786	NP_861451	P10072	HKR1_HUMAN	GLI-Kruppel family member HKR1	570	C2H2-type 10.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---
PPP1R14A	94274	broad.mit.edu	37	19	38742064	38742064	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38742064G>A	uc002ohq.2	-	4	531	c.338C>T	c.(337-339)GCA>GTA	p.A113V	PPP1R14A_uc010efv.2_Missense_Mutation_p.A86V	NM_033256	NP_150281	Q96A00	PP14A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	113	Inhibitory.				regulation of phosphorylation	cytoplasm	protein binding|protein phosphatase inhibitor activity				0	all_cancers(60;9.57e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)															---	---	---	---
RYR1	6261	broad.mit.edu	37	19	39078063	39078063	+	3'UTR	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39078063C>T	uc002oit.2	+	106					RYR1_uc002oiu.2_3'UTR	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)													---	---	---	---
HNRNPL	3191	broad.mit.edu	37	19	39329634	39329634	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39329634G>A	uc010xul.1	-	9	1266	c.1255C>T	c.(1255-1257)CCG>TCG	p.P419S	HNRNPL_uc010ege.1_Intron|HNRNPL_uc002ojj.1_Missense_Mutation_p.P75S|HNRNPL_uc002ojo.1_5'UTR|HNRNPL_uc002ojk.2_Missense_Mutation_p.P75S|HNRNPL_uc002ojl.2_Missense_Mutation_p.P75S|HNRNPL_uc010xum.1_Missense_Mutation_p.P286S|HNRNPL_uc002ojp.1_Missense_Mutation_p.P75S	NM_001533	NP_001524	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	419	RRM 3.				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)															---	---	---	---
IL28B	282617	broad.mit.edu	37	19	39735458	39735458	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39735458C>T	uc010xut.1	-	1	154	c.150G>A	c.(148-150)CTG>CTA	p.L50L	IL28B_uc010xuu.1_Silent_p.L50L	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	interleukin 28B	50					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)															---	---	---	---
MAP3K10	4294	broad.mit.edu	37	19	40704384	40704384	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40704384G>A	uc002ona.2	+	2	1073	c.785G>A	c.(784-786)AGC>AAC	p.S262N	MAP3K10_uc002onb.2_5'UTR	NM_002446	NP_002437	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase	262	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			ovary(2)|lung(2)|skin(1)|pancreas(1)	6																		---	---	---	---
HIPK4	147746	broad.mit.edu	37	19	40886552	40886552	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40886552G>A	uc002onp.2	-	3	1631	c.1346C>T	c.(1345-1347)GCG>GTG	p.A449V		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	449						cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)															---	---	---	---
C19orf54	284325	broad.mit.edu	37	19	41248565	41248565	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41248565G>A	uc002oou.1	-	6	949	c.829C>T	c.(829-831)CCA>TCA	p.P277S	C19orf54_uc002oow.1_Missense_Mutation_p.P105S|C19orf54_uc002oox.1_RNA|C19orf54_uc002ooy.1_Intron|C19orf54_uc010xvs.1_RNA	NM_198476	NP_940878	Q5BKX5	CS054_HUMAN	hypothetical protein LOC284325	277											0			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)															---	---	---	---
B9D2	80776	broad.mit.edu	37	19	41860739	41860739	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41860739G>A	uc002oqj.2	-	4	614	c.394C>T	c.(394-396)CCG>TCG	p.P132S	CYP2F1_uc010xvw.1_Intron|TGFB1_uc002oqh.1_5'Flank|TMEM91_uc002oqi.2_Intron	NM_030578	NP_085055	Q9BPU9	B9D2_HUMAN	B9 protein domain 2	132					cilium assembly|mitotic prometaphase	centrosome|cilium axoneme|cytosol|microtubule basal body|nucleus	gamma-tubulin binding			ovary(1)	1																		---	---	---	---
ZNF526	116115	broad.mit.edu	37	19	42729561	42729561	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42729561A>G	uc002osz.1	+	3	1162	c.1006A>G	c.(1006-1008)ACC>GCC	p.T336A		NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	zinc finger protein 526	336	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0704)																---	---	---	---
ZNF526	116115	broad.mit.edu	37	19	42730480	42730480	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42730480C>T	uc002osz.1	+	3	2081	c.1925C>T	c.(1924-1926)GCG>GTG	p.A642V		NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	zinc finger protein 526	642					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0704)																---	---	---	---
TMEM145	284339	broad.mit.edu	37	19	42827952	42827952	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42827952C>T	uc002otk.1	+						MEGF8_uc002otl.3_5'Flank	NM_173633	NP_775904			transmembrane protein 145							integral to membrane					0		Prostate(69;0.00682)																---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42848624	42848624	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42848624G>A	uc002otl.3	+	11	2455	c.1820G>A	c.(1819-1821)CGC>CAC	p.R607H	MEGF8_uc002otm.3_Missense_Mutation_p.R148H	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	607	Extracellular (Potential).|PSI 1.					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)																---	---	---	---
PSG1	5669	broad.mit.edu	37	19	43382143	43382143	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43382143C>T	uc002ovb.2	-	2	490	c.352G>A	c.(352-354)GGA>AGA	p.G118R	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.G118R|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.G118R|PSG1_uc010eio.1_Missense_Mutation_p.G118R|PSG1_uc002oux.1_Missense_Mutation_p.G47R|PSG1_uc002ouy.1_Missense_Mutation_p.G118R|PSG1_uc002ouz.1_Missense_Mutation_p.G118R|PSG1_uc002ova.1_Missense_Mutation_p.G118R|PSG1_uc002ovc.2_Missense_Mutation_p.G118R|PSG1_uc002ovd.1_Missense_Mutation_p.G118R	NM_006905	NP_008836	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	118	Ig-like V-type.				female pregnancy	extracellular region				ovary(2)	2		Prostate(69;0.00682)																---	---	---	---
ZNF235	9310	broad.mit.edu	37	19	44792076	44792076	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44792076G>A	uc002oza.3	-	5	1615	c.1512C>T	c.(1510-1512)AGC>AGT	p.S504S	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Silent_p.S500S|ZNF235_uc010xwx.1_Silent_p.S418S	NM_004234	NP_004225	Q14590	ZN235_HUMAN	zinc finger protein 93 homolog	504	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)	3		Prostate(69;0.0352)|all_neural(266;0.116)																---	---	---	---
PVRL2	5819	broad.mit.edu	37	19	45385524	45385524	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45385524G>A	uc002ozw.1	+	6	1489	c.1099G>A	c.(1099-1101)GCC>ACC	p.A367T		NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	poliovirus receptor related 2 isoform delta	367	Helical; (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)														---	---	---	---
MARK4	57787	broad.mit.edu	37	19	45783878	45783878	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45783878C>T	uc002pbb.1	+	12	1167	c.1162C>T	c.(1162-1164)CGG>TGG	p.R388W	MARK4_uc002paz.1_3'UTR|MARK4_uc002pba.1_Missense_Mutation_p.R388W|MARK4_uc002pbc.1_Missense_Mutation_p.R254W			Q96L34	MARK4_HUMAN	RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;	388					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			central_nervous_system(2)|large_intestine(1)	3		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)														---	---	---	---
CYTH2	9266	broad.mit.edu	37	19	48982376	48982376	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48982376G>A	uc002pjj.3	+						CYTH2_uc002pji.2_Intron	NM_017457	NP_059431			cytohesin 2 isoform 1						actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1																		---	---	---	---
FAM83E	54854	broad.mit.edu	37	19	49107020	49107020	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49107020C>T	uc002pjn.2	-	4	972	c.907G>A	c.(907-909)GGT>AGT	p.G303S	SPACA4_uc002pjo.2_5'Flank	NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	hypothetical protein LOC54854	303										ovary(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;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)														---	---	---	---
RPL13A	23521	broad.mit.edu	37	19	49993758	49993758	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49993758C>T	uc002pny.2	+	4	203	c.181C>T	c.(181-183)CGG>TGG	p.R61W	RPL13A_uc002pnz.2_5'UTR|RPL13A_uc002poa.2_Missense_Mutation_p.R51W|SNORD33_uc010emz.1_5'Flank|SNORD34_uc010ena.1_5'Flank|SNORD35A_uc010enb.1_5'Flank	NM_012423	NP_036555	P40429	RL13A_HUMAN	ribosomal protein L13a	61					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome				0		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)														---	---	---	---
SCAF1	58506	broad.mit.edu	37	19	50154616	50154616	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50154616G>A	uc002poq.2	+	7	1094	c.970G>A	c.(970-972)GCG>ACG	p.A324T		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	324					mRNA processing|RNA splicing	nucleus	RNA binding				0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)														---	---	---	---
LRRC4B	94030	broad.mit.edu	37	19	51022666	51022666	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51022666G>A	uc002pss.2	-	3	441	c.304C>T	c.(304-306)CGG>TGG	p.R102W		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	102	LRR 1.|Extracellular (Potential).					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)														---	---	---	---
KLK8	11202	broad.mit.edu	37	19	51503767	51503767	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51503767G>A	uc002pur.1	-	3	322	c.143C>T	c.(142-144)GCG>GTG	p.A48V	KLK9_uc002puw.1_RNA|KLK8_uc002puq.1_Missense_Mutation_p.A93V|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Missense_Mutation_p.A48V|KLK9_uc002puv.1_Intron	NM_007196	NP_009127	O60259	KLK8_HUMAN	kallikrein 8 isoform 1 preproprotein	48	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)	1		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)														---	---	---	---
ZNF347	84671	broad.mit.edu	37	19	53644036	53644036	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53644036T>C	uc002qbb.1	-	5	2114	c.2045A>G	c.(2044-2046)CAG>CGG	p.Q682R	ZNF347_uc010eql.1_Missense_Mutation_p.Q683R|ZNF347_uc002qbc.1_Missense_Mutation_p.Q683R	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	682	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)														---	---	---	---
ZNF677	342926	broad.mit.edu	37	19	53741121	53741121	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53741121C>T	uc002qbf.1	-	5	1044	c.859G>A	c.(859-861)GGA>AGA	p.G287R	ZNF677_uc002qbg.1_Missense_Mutation_p.G287R	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	zinc finger protein 677	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00352)														---	---	---	---
MIR518B	574474	broad.mit.edu	37	19	54206014	54206014	+	RNA	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54206014A>G	hsa-mir-518b|MI0003156	+			c.24A>G																				0																		---	---	---	---
MIR518B	574474	broad.mit.edu	37	19	54206046	54206046	+	RNA	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54206046C>T	hsa-mir-518b|MI0003156	+			c.56C>T																				0																		---	---	---	---
NLRP12	91662	broad.mit.edu	37	19	54297338	54297338	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54297338G>A	uc002qch.3	-	10	3371	c.3151C>T	c.(3151-3153)CGA>TGA	p.R1051*	NLRP12_uc010eqw.2_Nonsense_Mutation_p.R277*|NLRP12_uc002qci.3_Nonsense_Mutation_p.R994*|NLRP12_uc002qcj.3_Nonsense_Mutation_p.R1052*|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_3'UTR	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	1051					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)														---	---	---	---
MYADM	91663	broad.mit.edu	37	19	54376803	54376803	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54376803G>A	uc002qcl.2	+	3	168	c.20G>A	c.(19-21)CGC>CAC	p.R7H	MYADM_uc002qcm.2_Missense_Mutation_p.R7H|MYADM_uc002qcn.2_Missense_Mutation_p.R7H|MYADM_uc002qco.2_Missense_Mutation_p.R7H|MYADM_uc002qcp.2_Missense_Mutation_p.R7H	NM_001020820	NP_001018656	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	7						integral to membrane				ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)												OREG0003650	type=REGULATORY REGION|Gene=MYADM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	---	---	---
PRKCG	5582	broad.mit.edu	37	19	54401306	54401306	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54401306C>T	uc002qcq.1	+	10	1315	c.1033C>T	c.(1033-1035)CGC>TGC	p.R345C	PRKCG_uc010yef.1_Silent_p.D315D|PRKCG_uc010yeg.1_Missense_Mutation_p.R345C|PRKCG_uc010yeh.1_Missense_Mutation_p.R232C	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	345					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)														---	---	---	---
PRKCG	5582	broad.mit.edu	37	19	54403976	54403976	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54403976C>T	uc002qcq.1	+	14	1830	c.1548C>T	c.(1546-1548)TGC>TGT	p.C516C	PRKCG_uc010yeg.1_Silent_p.C516C|PRKCG_uc010yeh.1_Silent_p.C403C	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	516	Protein kinase.				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)														---	---	---	---
LENG1	79165	broad.mit.edu	37	19	54662025	54662025	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54662025C>T	uc002qdm.2	-	2	320	c.307G>A	c.(307-309)GAG>AAG	p.E103K		NM_024316	NP_077292	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	103	Potential.									ovary(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)																	---	---	---	---
MBOAT7	79143	broad.mit.edu	37	19	54682666	54682666	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54682666G>A	uc002qdq.2	-						MBOAT7_uc010erg.2_Intron|MBOAT7_uc010yem.1_Intron|MBOAT7_uc002qdr.2_Intron|MBOAT7_uc002qds.2_Intron|MBOAT7_uc010yen.1_Intron|MBOAT7_uc002qdt.3_Intron	NM_024298	NP_077274			membrane bound O-acyltransferase domain						phospholipid biosynthetic process	integral to membrane	acyltransferase activity				0	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)																	---	---	---	---
LILRB3	11025	broad.mit.edu	37	19	54720971	54720971	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54720971G>A	uc002qef.1	-	13	1998	c.1887C>T	c.(1885-1887)GCC>GCT	p.A629A	LILRB3_uc002qee.1_Silent_p.A630A|LILRB3_uc002qeh.1_Silent_p.A629A|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Silent_p.A629A|LILRA6_uc002qek.1_Silent_p.A630A|LILRB3_uc010erh.1_Silent_p.A646A|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Silent_p.A629A|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Silent_p.A630A|LILRB3_uc002qep.1_Silent_p.A630A|LILRB3_uc002qeq.1_Silent_p.A629A|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Silent_p.A630A	NM_006864	NP_006855	O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor,	629	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			skin(2)|ovary(1)	3	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;0.105)														---	---	---	---
LILRB2	10288	broad.mit.edu	37	19	54780248	54780248	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54780248C>T	uc002qfb.2	-	11	1812	c.1546G>A	c.(1546-1548)GGC>AGC	p.G516S	LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Intron|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.G515S|LILRB2_uc010yet.1_Missense_Mutation_p.G400S	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor,	516	Cytoplasmic (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)														---	---	---	---
ZNF416	55659	broad.mit.edu	37	19	58084147	58084147	+	Silent	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58084147A>C	uc002qpf.2	-	4	1296	c.1125T>G	c.(1123-1125)ACT>ACG	p.T375T	ZNF547_uc002qpm.3_Intron	NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	375	C2H2-type 5.				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;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)														---	---	---	---
ZNF417	147687	broad.mit.edu	37	19	58420174	58420174	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58420174G>A	uc002qqq.2	-	3	1671	c.1472C>T	c.(1471-1473)CCG>CTG	p.P491L	ZNF417_uc010yhm.1_Missense_Mutation_p.P448L|ZNF417_uc002qqr.2_Missense_Mutation_p.P490L	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	491					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)														---	---	---	---
ZNF497	162968	broad.mit.edu	37	19	58868484	58868484	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58868484G>A	uc002qsh.1	-	3	707	c.518C>T	c.(517-519)GCG>GTG	p.A173V	A1BG_uc002qsf.1_Intron|ZNF497_uc002qsi.1_Missense_Mutation_p.A173V|uc002qsj.1_5'UTR|uc002qsk.1_5'Flank	NM_198458	NP_940860	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	173	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)	2		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|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;0.168)|GBM - Glioblastoma multiforme(193;0.0278)														---	---	---	---
ZBTB45	84878	broad.mit.edu	37	19	59028581	59028581	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:59028581G>A	uc002qtd.2	-	2	752	c.460C>T	c.(460-462)CGC>TGC	p.R154C	ZBTB45_uc002qte.2_Missense_Mutation_p.R154C|ZBTB45_uc002qtf.2_Missense_Mutation_p.R154C	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	154	Pro-rich.				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;0.0165)|Lung(386;0.18)												OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
SIGLEC1	6614	broad.mit.edu	37	20	3683917	3683917	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3683917A>G	uc002wja.2	-	5	1155	c.1155T>C	c.(1153-1155)ACT>ACC	p.T385T	SIGLEC1_uc002wiz.3_Silent_p.T385T|SIGLEC1_uc002wjc.2_Silent_p.T296T	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	385	Extracellular (Potential).|Ig-like C2-type 3.				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																		---	---	---	---
C20orf196	149840	broad.mit.edu	37	20	5843700	5843700	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:5843700A>C	uc002wmf.2	+	3	296	c.209A>C	c.(208-210)AAC>ACC	p.N70T		NM_152504	NP_689717	Q8IYI0	CT196_HUMAN	hypothetical protein LOC149840	70											0																		---	---	---	---
BMP2	650	broad.mit.edu	37	20	6759223	6759223	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:6759223C>T	uc002wmu.1	+	3	1463	c.678C>T	c.(676-678)TTC>TTT	p.F226F		NM_001200	NP_001191	P12643	BMP2_HUMAN	bone morphogenetic protein 2 preproprotein	226					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			ovary(1)|breast(1)	2					Simvastatin(DB00641)													---	---	---	---
SNX5	27131	broad.mit.edu	37	20	17943488	17943488	+	Intron	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:17943488T>G	uc002wqc.2	-						SNX5_uc002wqb.2_5'Flank|SNX5_uc002wqd.2_Intron|SNX5_uc002wqe.2_Intron|SNX5_uc010zrt.1_Intron|SNORD17_uc002wqf.1_RNA	NM_014426	NP_055241			sorting nexin 5						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																		---	---	---	---
ZNF337	26152	broad.mit.edu	37	20	25656021	25656021	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:25656021G>A	uc002wva.2	-	4	2425	c.1903C>T	c.(1903-1905)CGA>TGA	p.R635*	uc002wuz.2_RNA|ZNF337_uc010ztg.1_Nonsense_Mutation_p.R603*|ZNF337_uc002wvb.2_Nonsense_Mutation_p.R635*|ZNF337_uc002wvc.2_Nonsense_Mutation_p.R635*	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	635	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF337	26152	broad.mit.edu	37	20	25657112	25657112	+	Missense_Mutation	SNP	C	T	T	rs147339647	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:25657112C>T	uc002wva.2	-	4	1334	c.812G>A	c.(811-813)CGA>CAA	p.R271Q	uc002wuz.2_RNA|ZNF337_uc010ztg.1_Missense_Mutation_p.R239Q|ZNF337_uc002wvb.2_Missense_Mutation_p.R271Q|ZNF337_uc002wvc.2_Missense_Mutation_p.R271Q	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	271	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
E2F1	1869	broad.mit.edu	37	20	32264963	32264963	+	Silent	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:32264963G>T	uc002wzu.3	-	6	1154	c.1014C>A	c.(1012-1014)CCC>CCA	p.P338P	NECAB3_uc002wzm.3_5'Flank|NECAB3_uc002wzn.3_5'Flank|NECAB3_uc002wzo.3_5'Flank|NECAB3_uc002wzp.3_5'Flank|NECAB3_uc002wzq.3_5'Flank|NECAB3_uc002wzr.3_5'Flank|NECAB3_uc010geo.2_5'Flank	NM_005225	NP_005216	Q01094	E2F1_HUMAN	E2F transcription factor 1	338	Required for interaction with TRIM28.				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	32664892	32664892	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:32664892C>A	uc002xab.2	+	8	1015	c.717C>A	c.(715-717)AGC>AGA	p.S239R	RALY_uc002xac.2_Missense_Mutation_p.S223R|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Missense_Mutation_p.S239R	NM_016732	NP_057951	Q9UKM9	RALY_HUMAN	RNA binding protein (autoantigenic,	239	Epitope (recognized by BKRF1 antibodies).|Poly-Gly.					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(1)	1																		---	---	---	---
PPP1R16B	26051	broad.mit.edu	37	20	37464809	37464809	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:37464809G>A	uc002xje.2	+	2	430	c.241G>A	c.(241-243)GCC>ACC	p.A81T	PPP1R16B_uc010ggc.2_Missense_Mutation_p.A81T	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	protein phosphatase 1 regulatory inhibitor	81					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)																---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	40743943	40743943	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:40743943G>A	uc002xkg.2	-	22	3179	c.2995C>T	c.(2995-2997)CGA>TGA	p.R999*	PTPRT_uc010ggj.2_Nonsense_Mutation_p.R1018*|PTPRT_uc010ggi.2_Nonsense_Mutation_p.R202*	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	999	Tyrosine-protein phosphatase 1.|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)																---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	40864897	40864897	+	Silent	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:40864897T>G	uc002xkg.2	-	15	2498	c.2314A>C	c.(2314-2316)AGA>CGA	p.R772R	PTPRT_uc010ggj.2_Silent_p.R791R	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	772	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)																---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	40980816	40980816	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:40980816T>C	uc002xkg.2	-	10	1854	c.1670A>G	c.(1669-1671)TAC>TGC	p.Y557C	PTPRT_uc010ggj.2_Missense_Mutation_p.Y557C	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	557	Extracellular (Potential).|Fibronectin type-III 3.				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)																---	---	---	---
JPH2	57158	broad.mit.edu	37	20	42789052	42789052	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:42789052G>A	uc002xli.1	-							NM_020433	NP_065166			junctophilin 2 isoform 1						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)															---	---	---	---
NEURL2	140825	broad.mit.edu	37	20	44519036	44519036	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44519036C>T	uc002xqg.1	-	1	866	c.595G>A	c.(595-597)GAT>AAT	p.D199N	C20orf165_uc002xqf.2_5'Flank|CTSA_uc002xqh.2_5'Flank|CTSA_uc002xqj.3_5'Flank|CTSA_uc002xqi.2_5'Flank|CTSA_uc010zxi.1_5'Flank|CTSA_uc002xqk.3_5'Flank	NM_080749	NP_542787	Q9BR09	NEUL2_HUMAN	neuralized-like protein 2	199	NHR.				intracellular signal transduction						0		Myeloproliferative disorder(115;0.0122)														OREG0025985	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ZNF334	55713	broad.mit.edu	37	20	45131154	45131154	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:45131154C>T	uc002xsc.2	-	5	1008	c.824G>A	c.(823-825)CGT>CAT	p.R275H	ZNF334_uc002xsa.2_Missense_Mutation_p.R298H|ZNF334_uc002xsb.2_Missense_Mutation_p.R237H|ZNF334_uc002xsd.2_Missense_Mutation_p.R237H|ZNF334_uc010ghl.2_Missense_Mutation_p.R274H	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	275	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)																---	---	---	---
SLC13A3	64849	broad.mit.edu	37	20	45192043	45192043	+	Intron	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:45192043C>A	uc002xsf.1	-						SLC13A3_uc010ghn.1_Intron|SLC13A3_uc010zxw.1_Intron|SLC13A3_uc002xsg.1_Intron|SLC13A3_uc010gho.1_Intron|SLC13A3_uc002xse.1_Intron|SLC13A3_uc010ghm.1_Intron|SLC13A3_uc010zxv.1_Intron	NM_022829	NP_073740			solute carrier family 13 member 3 isoform a							integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)													---	---	---	---
NCOA3	8202	broad.mit.edu	37	20	46267789	46267789	+	Silent	SNP	T	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:46267789T>A	uc002xtk.2	+	14	2755	c.2550T>A	c.(2548-2550)CCT>CCA	p.P850P	NCOA3_uc010ght.1_Silent_p.P860P|NCOA3_uc002xtl.2_Silent_p.P850P|NCOA3_uc002xtm.2_Silent_p.P850P|NCOA3_uc002xtn.2_Silent_p.P850P|NCOA3_uc010zyc.1_Silent_p.P645P	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	850					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																		---	---	---	---
ARFGEF2	10564	broad.mit.edu	37	20	47591403	47591403	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47591403C>T	uc002xtx.3	+	13	1918	c.1766C>T	c.(1765-1767)ACC>ATC	p.T589I		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	589					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)															---	---	---	---
MOCS3	27304	broad.mit.edu	37	20	49575694	49575694	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:49575694C>T	uc002xvy.1	+	1	332	c.315C>T	c.(313-315)GGC>GGT	p.G105G	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	105					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			skin(2)|ovary(1)	3																		---	---	---	---
ATP9A	10079	broad.mit.edu	37	20	50273605	50273605	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50273605C>T	uc002xwg.1	-	14	1378	c.1378G>A	c.(1378-1380)GTG>ATG	p.V460M	ATP9A_uc010gih.1_Missense_Mutation_p.V324M|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	460	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																		---	---	---	---
ZFP64	55734	broad.mit.edu	37	20	50705100	50705100	+	Silent	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50705100G>T	uc002xwk.2	-	8	1408	c.1059C>A	c.(1057-1059)ACC>ACA	p.T353T	ZFP64_uc002xwj.2_Silent_p.T134T	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																		---	---	---	---
TSHZ2	128553	broad.mit.edu	37	20	51873029	51873029	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:51873029T>G	uc002xwo.2	+	2	3988	c.3032T>G	c.(3031-3033)CTC>CGC	p.L1011R		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1011	C2H2-type 5.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)															---	---	---	---
C20orf43	51507	broad.mit.edu	37	20	55059247	55059247	+	Splice_Site	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:55059247T>C	uc002xxt.2	+	5	584	c.477_splice	c.e5+2	p.T159_splice	C20orf43_uc010zzf.1_Splice_Site_p.T189_splice|C20orf43_uc002xxu.2_Splice_Site_p.T159_splice|C20orf43_uc002xxv.2_Splice_Site_p.T159_splice	NM_016407	NP_057491			hypothetical protein LOC51507											ovary(1)	1			Colorectal(105;0.202)															---	---	---	---
PMEPA1	56937	broad.mit.edu	37	20	56234599	56234599	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:56234599T>C	uc002xyq.2	-	2	657	c.264A>G	c.(262-264)TCA>TCG	p.S88S	PMEPA1_uc002xyr.2_Silent_p.S38S|PMEPA1_uc002xys.2_Silent_p.S53S|PMEPA1_uc002xyt.2_Silent_p.S38S	NM_020182	NP_064567	Q969W9	PMEPA_HUMAN	transmembrane prostate androgen-induced protein	88	Cytoplasmic (Potential).				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			pancreas(1)	1																		---	---	---	---
CDH26	60437	broad.mit.edu	37	20	58562650	58562650	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:58562650C>T	uc002ybe.2	+	8	1280	c.980C>T	c.(979-981)TCG>TTG	p.S327L	CDH26_uc002ybf.1_5'Flank|CDH26_uc010zzy.1_RNA	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	327	Extracellular (Potential).|Cadherin 3.				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)															---	---	---	---
CDH26	60437	broad.mit.edu	37	20	58562651	58562651	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:58562651G>A	uc002ybe.2	+	8	1281	c.981G>A	c.(979-981)TCG>TCA	p.S327S	CDH26_uc002ybf.1_5'Flank|CDH26_uc010zzy.1_RNA	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	327	Extracellular (Potential).|Cadherin 3.				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)															---	---	---	---
CDH4	1002	broad.mit.edu	37	20	60448911	60448911	+	Silent	SNP	C	T	T	rs148871297	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:60448911C>T	uc002ybn.1	+	7	1019	c.1005C>T	c.(1003-1005)AGC>AGT	p.S335S	CDH4_uc002ybp.1_Silent_p.S261S	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	335	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)															---	---	---	---
LAMA5	3911	broad.mit.edu	37	20	60893940	60893940	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:60893940G>A	uc002ycq.2	-	52	7068	c.7001C>T	c.(7000-7002)CCG>CTG	p.P2334L		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	2334	Domain II and I.				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)													---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61512757	61512757	+	Silent	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61512757C>A	uc002ydr.1	-	16	4815	c.4551G>T	c.(4549-4551)TCG>TCT	p.S1517S	DIDO1_uc002yds.1_Silent_p.S1517S	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1517					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)																	---	---	---	---
YTHDF1	54915	broad.mit.edu	37	20	61834968	61834968	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61834968A>G	uc002yeh.2	-	4	618	c.324T>C	c.(322-324)CCT>CCC	p.P108P	YTHDF1_uc011aaq.1_Silent_p.P58P	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	108										ovary(2)	2																		---	---	---	---
SLC2A4RG	56731	broad.mit.edu	37	20	62373369	62373369	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62373369C>T	uc002ygq.2	+	4	594	c.539C>T	c.(538-540)GCC>GTC	p.A180V	SLC2A4RG_uc002ygr.2_Missense_Mutation_p.A75V|SLC2A4RG_uc011abj.1_Missense_Mutation_p.A75V|SLC2A4RG_uc002ygs.2_Intron|SLC2A4RG_uc002ygt.2_5'UTR	NM_020062	NP_064446	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	180						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)																	---	---	---	---
ZBTB46	140685	broad.mit.edu	37	20	62384092	62384092	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62384092C>T	uc002ygv.1	-	4	1546	c.1345G>A	c.(1345-1347)GAG>AAG	p.E449K	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	449	C2H2-type 2.				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)																	---	---	---	---
C20orf135	140701	broad.mit.edu	37	20	62493849	62493849	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62493849G>A	uc002ygx.1	+	1	1284	c.956G>A	c.(955-957)CGC>CAC	p.R319H	TPD52L2_uc002ygy.2_5'Flank|TPD52L2_uc002ygz.2_5'Flank|TPD52L2_uc002yha.2_5'Flank|TPD52L2_uc002yhb.2_5'Flank|TPD52L2_uc002yhc.2_5'Flank|TPD52L2_uc002yhd.2_5'Flank|TPD52L2_uc011abk.1_5'Flank|TPD52L2_uc011abl.1_5'Flank	NM_080622	NP_542189	Q9H3Z7	ABHGB_HUMAN	hypothetical protein LOC140701	319							hydrolase activity				0	all_cancers(38;1.77e-12)|all_epithelial(29;3.12e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)																	---	---	---	---
ZNF512B	57473	broad.mit.edu	37	20	62592694	62592694	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62592694C>T	uc002yhl.1	-	16	2449	c.2395G>A	c.(2395-2397)GTC>ATC	p.V799I		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	zinc finger protein 512B	799	C2H2-type 7.				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)																	---	---	---	---
ZNF512B	57473	broad.mit.edu	37	20	62595228	62595228	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62595228G>A	uc002yhl.1	-	9	1573	c.1519C>T	c.(1519-1521)CGC>TGC	p.R507C		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	zinc finger protein 512B	507					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)																	---	---	---	---
LIPI	149998	broad.mit.edu	37	21	15579144	15579144	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:15579144A>G	uc002yjm.2	-	1	111	c.101T>C	c.(100-102)CTG>CCG	p.L34P		NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	lipase, member I	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			ovary(2)	2				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)														---	---	---	---
CHODL	140578	broad.mit.edu	37	21	19628904	19628904	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:19628904G>T	uc002ykv.2	+	2	549	c.158G>T	c.(157-159)AGC>ATC	p.S53I	CHODL_uc002ykr.2_Missense_Mutation_p.S12I|CHODL_uc002yks.2_Missense_Mutation_p.S12I|CHODL_uc002ykt.2_Missense_Mutation_p.S12I|CHODL_uc002yku.2_Missense_Mutation_p.S12I	NM_024944	NP_079220	Q9H9P2	CHODL_HUMAN	chondrolectin precursor	53	Extracellular (Potential).|C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			upper_aerodigestive_tract(1)	1		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)														---	---	---	---
TIAM1	7074	broad.mit.edu	37	21	32492823	32492823	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:32492823C>T	uc002yow.1	-	29	5111	c.4639G>A	c.(4639-4641)GCG>ACG	p.A1547T	TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Missense_Mutation_p.A1487T	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1547					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10																		---	---	---	---
TIAM1	7074	broad.mit.edu	37	21	32590005	32590005	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:32590005C>T	uc002yow.1	-	10	2478	c.2006G>A	c.(2005-2007)CGC>CAC	p.R669H	TIAM1_uc011adk.1_Missense_Mutation_p.R669H|TIAM1_uc011adl.1_Missense_Mutation_p.R669H|TIAM1_uc002yox.1_Missense_Mutation_p.R277H	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	669					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10																		---	---	---	---
OLIG2	10215	broad.mit.edu	37	21	34399407	34399407	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34399407G>A	uc002yqx.1	+	2	395	c.237G>A	c.(235-237)TCG>TCA	p.S79S		NM_005806	NP_005797	Q13516	OLIG2_HUMAN	oligodendrocyte lineage transcription factor 2	79	Poly-Ser.					cytoplasm|nucleus|plasma membrane	DNA binding			central_nervous_system(2)	2								T	TRA@	T-ALL								---	---	---	---
PRDM15	63977	broad.mit.edu	37	21	43274836	43274836	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43274836G>A	uc002yzq.1	-	12	1586	c.1475C>T	c.(1474-1476)GCC>GTC	p.A492V	PRDM15_uc002yzo.2_Missense_Mutation_p.A163V|PRDM15_uc002yzp.2_Missense_Mutation_p.A163V|PRDM15_uc002yzr.1_Missense_Mutation_p.A163V	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	492	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
RSPH1	89765	broad.mit.edu	37	21	43906550	43906550	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43906550C>T	uc002zbg.2	-	4	401	c.296G>A	c.(295-297)CGG>CAG	p.R99Q		NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	testis-specific gene A2	99	MORN 4.				meiosis	cytosol|nucleus				ovary(1)	1																		---	---	---	---
TRAPPC10	7109	broad.mit.edu	37	21	45494326	45494326	+	Missense_Mutation	SNP	G	T	T	rs148635981		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45494326G>T	uc002zea.2	+	8	1329	c.1160G>T	c.(1159-1161)GGG>GTG	p.G387V	TRAPPC10_uc010gpo.2_Missense_Mutation_p.G98V	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	387					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2																		---	---	---	---
ITGB2	3689	broad.mit.edu	37	21	46320303	46320303	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:46320303C>T	uc002zgd.2	-	6	873	c.829G>A	c.(829-831)GCC>ACC	p.A277T	ITGB2_uc002zge.2_Missense_Mutation_p.A277T|ITGB2_uc002zgf.3_Missense_Mutation_p.A277T|ITGB2_uc011afl.1_Missense_Mutation_p.A199T|ITGB2_uc010gpw.2_Missense_Mutation_p.A220T|ITGB2_uc002zgg.2_Missense_Mutation_p.A277T	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	277	Extracellular (Potential).|VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)													---	---	---	---
PCNT	5116	broad.mit.edu	37	21	47832899	47832899	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47832899G>A	uc002zji.3	+	29	6250	c.6143G>A	c.(6142-6144)GGC>GAC	p.G2048D	PCNT_uc002zjj.2_Missense_Mutation_p.G1930D	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	2048					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)																	---	---	---	---
ARVCF	421	broad.mit.edu	37	22	19967605	19967605	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:19967605G>A	uc002zqz.2	-	6	1328	c.1057C>T	c.(1057-1059)CCG>TCG	p.P353S	ARVCF_uc002zqy.2_5'Flank|ARVCF_uc002zra.2_3'UTR	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	353	ARM 1.				cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)																	---	---	---	---
MIR1306	100302197	broad.mit.edu	37	22	20073609	20073609	+	RNA	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:20073609A>G	hsa-mir-1306|MI0006443	+			c.29A>G			DGCR8_uc002zri.2_Silent_p.Q41Q|DGCR8_uc010grz.2_Silent_p.Q41Q|DGCR8_uc002zrj.2_5'Flank																	0																		---	---	---	---
MED15	51586	broad.mit.edu	37	22	20918760	20918760	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:20918760G>T	uc002zsp.2	+	6	555	c.475G>T	c.(475-477)GCG>TCG	p.A159S	MED15_uc002zsn.1_Missense_Mutation_p.A78S|MED15_uc002zso.2_Missense_Mutation_p.A88S|MED15_uc002zsq.2_Missense_Mutation_p.A159S|MED15_uc010gso.2_Missense_Mutation_p.A159S|MED15_uc002zsr.2_Missense_Mutation_p.A133S|MED15_uc011ahs.1_Missense_Mutation_p.A133S|MED15_uc011aht.1_Missense_Mutation_p.A133S|MED15_uc002zss.2_Missense_Mutation_p.A78S|MED15_uc011ahu.1_5'Flank	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	mediator complex subunit 15 isoform a	159					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			skin(1)	1	all_cancers(11;2.07e-24)|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)|Epithelial(17;0.209)													OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
AIFM3	150209	broad.mit.edu	37	22	21329105	21329105	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:21329105G>T	uc002ztj.2	+	8	938	c.720G>T	c.(718-720)AAG>AAT	p.K240N	AIFM3_uc002ztk.2_Missense_Mutation_p.K240N|AIFM3_uc002ztl.2_Missense_Mutation_p.K246N|AIFM3_uc011ahx.1_Missense_Mutation_p.K228N|AIFM3_uc002ztm.1_Missense_Mutation_p.K52N	NM_144704	NP_653305	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor,	240		FAD (Potential).			activation of caspase activity by cytochrome c|cell redox homeostasis|electron transport chain|induction of apoptosis|mitochondrial depolarization|transport	endoplasmic reticulum|mitochondrial inner membrane	2 iron, 2 sulfur cluster binding|caspase activator activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity|protein binding			ovary(2)|lung(2)	4	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)															---	---	---	---
TOP3B	8940	broad.mit.edu	37	22	22313552	22313552	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:22313552C>T	uc002zvs.2	-	16	2292	c.1857G>A	c.(1855-1857)AAG>AAA	p.K619K	TOP3B_uc010gtm.1_Silent_p.K164K|TOP3B_uc002zvr.2_Silent_p.K344K|TOP3B_uc010gtl.2_Silent_p.K619K|TOP3B_uc002zvt.3_Silent_p.K619K	NM_003935	NP_003926	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	619					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	23055679	23055679	+	RNA	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:23055679T>C	uc011aim.1	+	153		c.9394T>C								Parts of antibodies, mostly variable regions.												0																		---	---	---	---
LRP5L	91355	broad.mit.edu	37	22	25756037	25756037	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:25756037G>A	uc003abs.2	-	1	2488	c.23C>T	c.(22-24)ACG>ATG	p.T8M	LRP5L_uc011ajz.1_Missense_Mutation_p.T8M|LRP5L_uc010guw.1_Missense_Mutation_p.T8M	NM_182492	NP_872298	A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein	8	LDL-receptor class B 1.										0																		---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26423135	26423135	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:26423135C>A	uc003abz.1	+	43	7445	c.7195C>A	c.(7195-7197)CTT>ATT	p.L2399I	MYO18B_uc003aca.1_Missense_Mutation_p.L2280I|MYO18B_uc010guy.1_Missense_Mutation_p.L2281I|MYO18B_uc010guz.1_Missense_Mutation_p.L2279I|MYO18B_uc011aka.1_Missense_Mutation_p.L1553I|MYO18B_uc011akb.1_Missense_Mutation_p.L1912I|MYO18B_uc010gva.1_Missense_Mutation_p.L382I|MYO18B_uc010gvb.1_RNA	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2399						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12																		---	---	---	---
CRYBB1	1414	broad.mit.edu	37	22	27012154	27012154	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:27012154C>T	uc003acy.1	-	2	200	c.130G>A	c.(130-132)GTG>ATG	p.V44M		NM_001887	NP_001878	P53674	CRBB1_HUMAN	crystallin, beta B1	44	N-terminal arm.				visual perception		structural constituent of eye lens			ovary(1)	1																		---	---	---	---
ZNRF3	84133	broad.mit.edu	37	22	29444461	29444461	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:29444461T>C	uc003aeg.2	+	7	862	c.697T>C	c.(697-699)TGT>CGT	p.C233R	ZNRF3_uc003aeh.1_Missense_Mutation_p.C233R	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	333	RING-type; atypical.|Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1																		---	---	---	---
OSBP2	23762	broad.mit.edu	37	22	31285560	31285560	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31285560C>T	uc003aiy.1	+	7	1664	c.1560C>T	c.(1558-1560)AGC>AGT	p.S520S	OSBP2_uc011ala.1_Silent_p.S354S|OSBP2_uc010gwc.1_Silent_p.S347S|OSBP2_uc011alb.1_Intron|OSBP2_uc003aiz.1_Silent_p.S519S|OSBP2_uc003aja.1_Silent_p.S153S|OSBP2_uc011alc.1_Silent_p.S262S|OSBP2_uc003ajb.2_Silent_p.S65S|OSBP2_uc011ald.1_Silent_p.S64S|OSBP2_uc010gwd.1_Silent_p.S65S	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2 isoform a	520					lipid transport	membrane	lipid binding			breast(1)|skin(1)	2																		---	---	---	---
OSBP2	23762	broad.mit.edu	37	22	31302253	31302253	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31302253C>T	uc003aiy.1	+	14	2782	c.2678C>T	c.(2677-2679)GCC>GTC	p.A893V	OSBP2_uc011ala.1_Missense_Mutation_p.A727V|OSBP2_uc010gwc.1_Missense_Mutation_p.A720V|OSBP2_uc011alb.1_3'UTR|OSBP2_uc003aiz.1_Missense_Mutation_p.A892V|OSBP2_uc003aja.1_Missense_Mutation_p.A526V|OSBP2_uc011alc.1_Missense_Mutation_p.A636V|OSBP2_uc003ajb.2_Missense_Mutation_p.A438V|OSBP2_uc011ald.1_Missense_Mutation_p.A437V|OSBP2_uc010gwd.1_3'UTR	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2 isoform a	893					lipid transport	membrane	lipid binding			breast(1)|skin(1)	2																		---	---	---	---
SMTN	6525	broad.mit.edu	37	22	31495154	31495154	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31495154C>T	uc003ajl.1	+	18	2658	c.2440C>T	c.(2440-2442)CGC>TGC	p.R814C	SMTN_uc003ajk.1_Missense_Mutation_p.R814C|SMTN_uc003ajm.1_Missense_Mutation_p.R814C|SMTN_uc011ale.1_Missense_Mutation_p.R899C|SMTN_uc011alf.1_Missense_Mutation_p.R870C|SMTN_uc003ajn.1_Missense_Mutation_p.R837C|SMTN_uc011alg.1_Missense_Mutation_p.R270C|SMTN_uc003ajo.1_Missense_Mutation_p.R337C|SMTN_uc010gwe.1_Missense_Mutation_p.R194C|SMTN_uc003ajp.1_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	smoothelin isoform c	814	CH.				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			large_intestine(2)|pancreas(1)	3																		---	---	---	---
DEPDC5	9681	broad.mit.edu	37	22	32302315	32302315	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32302315G>A	uc003als.2	+	42	4693	c.4551G>A	c.(4549-4551)TGG>TGA	p.W1517*	DEPDC5_uc011als.1_Nonsense_Mutation_p.W1448*|DEPDC5_uc011alu.1_Nonsense_Mutation_p.W1548*|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Nonsense_Mutation_p.W1539*|DEPDC5_uc003alu.2_Nonsense_Mutation_p.W966*|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Nonsense_Mutation_p.W815*|DEPDC5_uc011alx.1_Nonsense_Mutation_p.W365*|DEPDC5_uc010gwk.2_Missense_Mutation_p.G553S|DEPDC5_uc011aly.1_Nonsense_Mutation_p.W365*	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	1517					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8																		---	---	---	---
RFPL2	10739	broad.mit.edu	37	22	32587176	32587176	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32587176G>A	uc003amg.3	-	5	1656	c.720C>T	c.(718-720)CGC>CGT	p.R240R	RFPL2_uc003ame.3_Silent_p.R179R|RFPL2_uc003amf.3_Silent_p.R150R|RFPL2_uc003amh.3_Silent_p.R150R	NM_001098527	NP_001091997	O75678	RFPL2_HUMAN	ret finger protein-like 2 isoform 2	240	B30.2/SPRY.						zinc ion binding			skin(1)	1																		---	---	---	---
HMOX1	3162	broad.mit.edu	37	22	35783002	35783002	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:35783002C>T	uc003ant.1	+	3	549	c.469C>T	c.(469-471)CTG>TTG	p.L157L		NM_002133	NP_002124	P09601	HMOX1_HUMAN	heme oxygenase (decyclizing) 1	157					angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity			ovary(1)	1					NADH(DB00157)													---	---	---	---
LGALS2	3957	broad.mit.edu	37	22	37966699	37966699	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37966699G>A	uc003ata.2	-	3	245	c.133C>T	c.(133-135)CAT>TAT	p.H45Y		NM_006498	NP_006489	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	45	Galectin.									breast(1)|skin(1)	2	Melanoma(58;0.0574)																	---	---	---	---
PDXP	57026	broad.mit.edu	37	22	38055298	38055298	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38055298A>C	uc003atm.1	+	1	562	c.509A>C	c.(508-510)GAG>GCG	p.E170A	SH3BP1_uc003atj.1_Intron|uc003atl.1_5'Flank	NM_020315	NP_064711	Q96GD0	PLPP_HUMAN	pyridoxal phosphatase	170					actin rod assembly|cellular response to ATP|positive regulation of actin filament depolymerization|protein dephosphorylation|regulation of cytokinesis|regulation of mitosis	cytosol	heat shock protein binding|metal ion binding|phosphoprotein phosphatase activity|pyridoxal phosphatase activity			ovary(2)	2	Melanoma(58;0.0574)				Pyridoxal(DB00147)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)													---	---	---	---
TMEM184B	25829	broad.mit.edu	37	22	38620838	38620838	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38620838G>A	uc003avf.1	-	8	1160	c.936C>T	c.(934-936)CAC>CAT	p.H312H	TMEM184B_uc003avg.1_Silent_p.H312H|TMEM184B_uc003avh.1_Silent_p.H246H	NM_012264	NP_036396	Q9Y519	T184B_HUMAN	transmembrane protein 184B	312						integral to membrane					0	Melanoma(58;0.045)																	---	---	---	---
CSNK1E	1454	broad.mit.edu	37	22	38689287	38689287	+	3'UTR	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38689287C>A	uc003avj.2	-	10					CSNK1E_uc003avk.2_3'UTR|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_3'UTR|CSNK1E_uc003avn.1_3'UTR|CSNK1E_uc003avo.2_3'UTR	NM_152221	NP_689407			casein kinase 1 epsilon						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)																	---	---	---	---
SGSM3	27352	broad.mit.edu	37	22	40801671	40801671	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40801671C>T	uc003ayu.1	+	8	846	c.637C>T	c.(637-639)CTG>TTG	p.L213L	SGSM3_uc010gyc.1_Silent_p.L213L|SGSM3_uc011aos.1_Silent_p.L146L|SGSM3_uc011aot.1_Silent_p.L150L|SGSM3_uc010gyd.1_Silent_p.L213L	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	213	Rab-GAP TBC.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			ovary(2)	2																		---	---	---	---
EP300	2033	broad.mit.edu	37	22	41533773	41533773	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41533773G>A	uc003azl.3	+	8	2134	c.1739G>A	c.(1738-1740)CGA>CAA	p.R580Q		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	580	KIX.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.R580*(1)		haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64								T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				---	---	---	---
EP300	2033	broad.mit.edu	37	22	41545050	41545050	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41545050C>T	uc003azl.3	+	13	2645	c.2250C>T	c.(2248-2250)GGC>GGT	p.G750G		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	750					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64								T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				---	---	---	---
SCUBE1	80274	broad.mit.edu	37	22	43735227	43735227	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:43735227C>T	uc003bdt.1	-	2	191	c.103G>A	c.(103-105)GAT>AAT	p.D35N	SCUBE1_uc003bdu.1_Missense_Mutation_p.D35N	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	35	EGF-like 1; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)																---	---	---	---
EFCAB6	64800	broad.mit.edu	37	22	43926830	43926830	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:43926830C>T	uc003bdy.1	-	31	4463	c.4248G>A	c.(4246-4248)GCG>GCA	p.A1416A	EFCAB6_uc003bdz.1_Silent_p.A1264A|EFCAB6_uc010gzi.1_Silent_p.A1264A	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1416	Interaction with AR.|Interaction with PARK7.				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	44392209	44392209	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:44392209T>C	uc003bej.2	+						PARVB_uc003bem.2_5'Flank|SAMM50_uc011aqd.1_Intron|SAMM50_uc003bek.2_Intron	NM_015380	NP_056195			sorting and assembly machinery component 50						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)																---	---	---	---
FBLN1	2192	broad.mit.edu	37	22	45923855	45923855	+	Silent	SNP	C	T	T	rs141549958		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:45923855C>T	uc003bgj.1	+	4	597	c.450C>T	c.(448-450)ACC>ACT	p.T150T	FBLN1_uc003bgg.1_Silent_p.T150T|FBLN1_uc003bgh.2_Silent_p.T150T|FBLN1_uc010gzz.2_Silent_p.T188T|FBLN1_uc003bgi.1_Silent_p.T150T	NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	150					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)														---	---	---	---
TTC38	55020	broad.mit.edu	37	22	46679905	46679905	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46679905C>A	uc003bhi.2	+	8	847	c.771C>A	c.(769-771)CAC>CAA	p.H257Q	TTC38_uc011aqx.1_Missense_Mutation_p.H199Q	NM_017931	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	257	TPR 3.						binding			ovary(1)	1																		---	---	---	---
PPP2R3B	28227	broad.mit.edu	37	X	322220	322220	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:322220C>T	uc004cpg.2	-	2	631	c.430G>A	c.(430-432)GTC>ATC	p.V144I	PPP2R3B_uc011mha.1_5'UTR	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	144					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	1413263	1413263	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1413263C>T	uc010nct.2	+	9	1011	c.689C>T	c.(688-690)ACG>ATG	p.T230M	CSF2RA_uc011mhb.1_Missense_Mutation_p.T230M|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Missense_Mutation_p.T230M|CSF2RA_uc004cpo.2_Missense_Mutation_p.T230M|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Missense_Mutation_p.T97M|CSF2RA_uc004cpp.2_Missense_Mutation_p.T230M|CSF2RA_uc010ncv.2_Missense_Mutation_p.T230M|CSF2RA_uc004cpr.2_Missense_Mutation_p.T230M	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor alpha chain	230	Extracellular (Potential).					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)													---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3228137	3228137	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:3228137C>T	uc004crg.3	-	7	8264	c.8107G>A	c.(8107-8109)GTG>ATG	p.V2703M		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2703	Ig-like C2-type 11.					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	3242753	3242753	+	Missense_Mutation	SNP	C	T	T	rs148104868		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:3242753C>T	uc004crg.3	-	5	1130	c.973G>A	c.(973-975)GAG>AAG	p.E325K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	325						extracellular region		p.E325D(1)		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	6069136	6069136	+	Silent	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:6069136C>A	uc010ndh.2	-	2	873	c.372G>T	c.(370-372)CTG>CTT	p.L124L	NLGN4X_uc004crp.2_Silent_p.L124L|NLGN4X_uc004crq.2_Silent_p.L124L|NLGN4X_uc010ndi.2_Silent_p.L124L|NLGN4X_uc004crr.2_Silent_p.L124L|NLGN4X_uc010ndj.2_Silent_p.L124L	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	124	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																		---	---	---	---
KAL1	3730	broad.mit.edu	37	X	8522076	8522076	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:8522076C>T	uc004csf.2	-	9	1421	c.1271G>A	c.(1270-1272)CGA>CAA	p.R424Q		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	424					axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4																		---	---	---	---
BEND2	139105	broad.mit.edu	37	X	18189251	18189251	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18189251G>A	uc004cyj.3	-	13	2209	c.2055C>T	c.(2053-2055)TGC>TGT	p.C685C	BEND2_uc010nfb.2_Silent_p.C594C	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	685	BEN 2.									ovary(3)|kidney(1)|central_nervous_system(1)	5																		---	---	---	---
PPEF1	5475	broad.mit.edu	37	X	18797182	18797182	+	Silent	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18797182C>A	uc004cyq.2	+	10	1094	c.613C>A	c.(613-615)CGA>AGA	p.R205R	PPEF1_uc004cyp.2_Silent_p.R205R|PPEF1_uc004cyr.2_Silent_p.R205R|PPEF1_uc004cys.2_Silent_p.R205R|PPEF1_uc011mja.1_Silent_p.R140R|PPEF1_uc011mjb.1_Silent_p.R149R	NM_006240	NP_006231	O14829	PPE1_HUMAN	protein phosphatase with EF hand calcium-binding	205	Catalytic.				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)																	---	---	---	---
KLHL34	257240	broad.mit.edu	37	X	21674964	21674964	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:21674964C>T	uc004czz.1	-	1	1485	c.943G>A	c.(943-945)GAG>AAG	p.E315K		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	kelch-like 34	315	Glu-rich.									ovary(1)	1																		---	---	---	---
YY2	404281	broad.mit.edu	37	X	21863512	21863512	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:21863512G>A	uc010nfq.2	+						MBTPS2_uc004dae.2_Intron|MBTPS2_uc004dab.2_Intron	NM_206923	NP_996806			YY2 transcription factor						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(1)|skin(1)	2																		---	---	---	---
ZNF645	158506	broad.mit.edu	37	X	22291233	22291233	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:22291233A>G	uc004dai.1	+	1	174	c.125A>G	c.(124-126)AAG>AGG	p.K42R		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	42						intracellular	zinc ion binding			lung(1)|pancreas(1)	2																		---	---	---	---
DMD	1756	broad.mit.edu	37	X	32486747	32486747	+	Silent	SNP	C	T	T	rs72468666		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:32486747C>T	uc004dda.1	-	23	3274	c.3030G>A	c.(3028-3030)GCG>GCA	p.A1010A	DMD_uc004dcz.2_Silent_p.A887A|DMD_uc004dcy.1_Silent_p.A1006A|DMD_uc004ddb.1_Silent_p.A1002A|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1010	Spectrin 6.				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)																---	---	---	---
DDX3X	1654	broad.mit.edu	37	X	41203054	41203054	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:41203054C>T	uc004dfe.2	+	8	1599	c.744C>T	c.(742-744)GGC>GGT	p.G248G	DDX3X_uc010nhf.1_Silent_p.G232G|DDX3X_uc004dff.2_Silent_p.G248G|DDX3X_uc011mkq.1_Silent_p.G232G|DDX3X_uc011mkr.1_Silent_p.G248G|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_Intron	NM_001356	NP_001347	O00571	DDX3X_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3	248	Helicase ATP-binding.				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)			---	---	---	---
OTUD5	55593	broad.mit.edu	37	X	48781133	48781133	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48781133G>A	uc004dlu.2	-	7	1536	c.1475C>T	c.(1474-1476)GCG>GTG	p.A492V	OTUD5_uc004dlt.3_Missense_Mutation_p.A487V|OTUD5_uc004dlv.2_Missense_Mutation_p.A487V|OTUD5_uc011mmp.1_Missense_Mutation_p.A270V	NM_017602	NP_060072	Q96G74	OTUD5_HUMAN	OTU domain containing 5 isoform a	492					negative regulation of type I interferon production		cysteine-type peptidase activity			pancreas(1)	1																		---	---	---	---
TFE3	7030	broad.mit.edu	37	X	48887806	48887806	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48887806C>G	uc004dmb.3	-	10	1829	c.1591G>C	c.(1591-1593)GGG>CGG	p.G531R	TFE3_uc004dmc.3_Missense_Mutation_p.G426R	NM_006521	NP_006512	P19532	TFE3_HUMAN	transcription factor E3	531					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2)	soft_tissue(120)|kidney(76)|central_nervous_system(1)	197								T	SFPQ|ASPSCR1|PRCC|NONO|CLTC	papillary renal|alveolar soft part sarcoma|renal								---	---	---	---
PPP1R3F	89801	broad.mit.edu	37	X	49127204	49127204	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49127204C>T	uc004dnh.1	+	1	888	c.872C>T	c.(871-873)CCC>CTC	p.P291L	PPP1R3F_uc011mnd.1_5'UTR|PPP1R3F_uc004dni.2_Intron	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory (inhibitor)	291	Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	Ovarian(276;0.236)																	---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53574996	53574996	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53574996C>T	uc004dsp.2	-	68	10676	c.10274G>A	c.(10273-10275)AGC>AAC	p.S3425N	HUWE1_uc004dsn.2_Missense_Mutation_p.S2233N	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	3425					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																		---	---	---	---
FAM120C	54954	broad.mit.edu	37	X	54107839	54107839	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54107839A>G	uc004dsz.3	-	14	2977	c.2894T>C	c.(2893-2895)GTG>GCG	p.V965A	FAM120C_uc011moh.1_Missense_Mutation_p.W828R	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	hypothetical protein LOC54954	965										ovary(1)|central_nervous_system(1)	2																		---	---	---	---
TSR2	90121	broad.mit.edu	37	X	54470537	54470537	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54470537A>T	uc004dte.2	+	4	363	c.361A>T	c.(361-363)AAG>TAG	p.K121*	TSR2_uc004dtf.2_Nonsense_Mutation_p.K26*	NM_058163	NP_477511	Q969E8	TSR2_HUMAN	TSR2, 20S rRNA accumulation, homolog	121					rRNA processing		protein binding				0																		---	---	---	---
ITIH5L	347365	broad.mit.edu	37	X	54815025	54815025	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54815025A>T	uc004dtj.2	-	5	704	c.674T>A	c.(673-675)ATC>AAC	p.I225N		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	225					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6																		---	---	---	---
ALAS2	212	broad.mit.edu	37	X	55047483	55047483	+	Splice_Site	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:55047483A>G	uc004dua.3	-	5	776	c.638_splice	c.e5+1	p.Q213_splice	ALAS2_uc004dub.3_Splice_Site_p.Q200_splice|ALAS2_uc004dud.3_Splice_Site_p.Q176_splice	NM_000032	NP_000023			5-aminolevulinate synthase 2 isoform a						cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(1)	1					Glycine(DB00145)													---	---	---	---
RRAGB	10325	broad.mit.edu	37	X	55757850	55757850	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:55757850G>T	uc004dup.2	+	6	1082	c.431G>T	c.(430-432)CGA>CTA	p.R144L	RRAGB_uc004duq.2_Missense_Mutation_p.R116L	NM_016656	NP_057740	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B long isoform	144					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding				0																		---	---	---	---
ZXDA	7789	broad.mit.edu	37	X	57936033	57936033	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:57936033G>A	uc004dve.2	-	1	1035	c.822C>T	c.(820-822)TGC>TGT	p.C274C		NM_007156	NP_009087	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	274	C2H2-type 1.|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																		---	---	---	---
MTMR8	55613	broad.mit.edu	37	X	63579408	63579408	+	Splice_Site	SNP	C	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:63579408C>G	uc004dvs.2	-	2	93	c.25_splice	c.e2-1	p.V9_splice	MTMR8_uc011mou.1_Splice_Site_p.V9_splice|MTMR8_uc004dvt.1_Splice_Site_p.V9_splice	NM_017677	NP_060147			myotubularin related protein 8							nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4																		---	---	---	---
AR	367	broad.mit.edu	37	X	66765161	66765161	+	Missense_Mutation	SNP	A	T	T	rs5902610		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:66765161A>T	uc004dwu.1	+	1	1288	c.173A>T	c.(172-174)CAG>CTG	p.Q58L	AR_uc011mpd.1_Missense_Mutation_p.Q58L|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.Q58L	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	58	Modulating.|Poly-Gln.|Gln-rich.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)									Androgen_Insensitivity_Syndrome				---	---	---	---
OPHN1	4983	broad.mit.edu	37	X	67430049	67430049	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:67430049A>G	uc004dww.3	-	9	1072	c.778T>C	c.(778-780)TGC>CGC	p.C260R	OPHN1_uc011mpg.1_Missense_Mutation_p.C260R|OPHN1_uc004dwx.2_Missense_Mutation_p.C260R	NM_002547	NP_002538	O60890	OPHN1_HUMAN	oligophrenin 1	260					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																		---	---	---	---
IGBP1	3476	broad.mit.edu	37	X	69354476	69354476	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:69354476C>T	uc004dxv.2	+	2	791	c.292C>T	c.(292-294)CGT>TGT	p.R98C	IGBP1_uc004dxw.2_Missense_Mutation_p.R98C	NM_001551	NP_001542	P78318	IGBP1_HUMAN	immunoglobulin binding protein 1	98					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(1)|pancreas(1)	2																		---	---	---	---
ZDHHC15	158866	broad.mit.edu	37	X	74641702	74641702	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:74641702G>T	uc004ecg.2	-	9	1338	c.860C>A	c.(859-861)TCC>TAC	p.S287Y	ZDHHC15_uc004ech.2_Missense_Mutation_p.S278Y|ZDHHC15_uc011mqo.1_RNA	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15 isoform 1	287						integral to membrane	zinc ion binding			ovary(2)	2																		---	---	---	---
ATRX	546	broad.mit.edu	37	X	76938509	76938509	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:76938509T>C	uc004ecp.3	-	9	2471	c.2239A>G	c.(2239-2241)AGT>GGT	p.S747G	ATRX_uc004ecq.3_Missense_Mutation_p.S709G|ATRX_uc004eco.3_Missense_Mutation_p.S532G|ATRX_uc004ecr.2_Missense_Mutation_p.S679G|ATRX_uc010nlx.1_Missense_Mutation_p.S718G|ATRX_uc010nly.1_Missense_Mutation_p.S692G	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	747	Poly-Ser.				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						---	---	---	---
PCDH19	57526	broad.mit.edu	37	X	99551740	99551740	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:99551740A>G	uc010nmz.2	-	6	4658	c.2982T>C	c.(2980-2982)TCT>TCC	p.S994S	PCDH19_uc004efw.3_Silent_p.S946S|PCDH19_uc004efx.3_Silent_p.S947S	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	994	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	99662844	99662844	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:99662844G>T	uc010nmz.2	-	1	2428	c.752C>A	c.(751-753)TCG>TAG	p.S251*	PCDH19_uc004efw.3_Nonsense_Mutation_p.S251*|PCDH19_uc004efx.3_Nonsense_Mutation_p.S251*	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	251	Cadherin 3.|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																		---	---	---	---
CSTF2	1478	broad.mit.edu	37	X	100078882	100078882	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100078882T>C	uc004egh.2	+	5	510	c.452T>C	c.(451-453)GTC>GCC	p.V151A	CSTF2_uc010nnd.2_Missense_Mutation_p.V151A|CSTF2_uc004egi.2_Missense_Mutation_p.V151A	NM_001325	NP_001316	P33240	CSTF2_HUMAN	cleavage stimulation factor subunit 2	151	Interactions with CSTF3 and SYMPK.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|protein binding|RNA binding			skin(1)	1																		---	---	---	---
DRP2	1821	broad.mit.edu	37	X	100515504	100515504	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100515504G>A	uc004egz.2	+	24	3137	c.2768G>A	c.(2767-2769)AGC>AAC	p.S923N	DRP2_uc011mrh.1_Missense_Mutation_p.S845N	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	923					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2																		---	---	---	---
NXF2B	728343	broad.mit.edu	37	X	101623733	101623733	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:101623733T>G	uc004ejb.3	-	19	2501	c.629A>C	c.(628-630)AAG>ACG	p.K210T	NXF2B_uc004eiz.3_Missense_Mutation_p.K122T|NXF2B_uc004eja.3_Missense_Mutation_p.K210T|NXF2_uc004eiy.3_Missense_Mutation_p.K210T	NM_001099686	NP_001093156	Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2B	210					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|RNA binding			ovary(1)	1																		---	---	---	---
GPRASP2	114928	broad.mit.edu	37	X	101969892	101969892	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:101969892T>C	uc004ejk.2	+	4	1429	c.95T>C	c.(94-96)GTC>GCC	p.V32A	GPRASP2_uc004ejl.2_Missense_Mutation_p.V32A|GPRASP2_uc004ejm.2_Missense_Mutation_p.V32A|GPRASP2_uc011mrp.1_5'Flank	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	32						cytoplasm	protein binding			ovary(1)	1																		---	---	---	---
NRK	203447	broad.mit.edu	37	X	105178281	105178281	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:105178281C>T	uc004emd.2	+	20	3647	c.3344C>T	c.(3343-3345)GCC>GTC	p.A1115V	NRK_uc010npc.1_Missense_Mutation_p.A783V	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1115							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14															HNSCC(51;0.14)			---	---	---	---
NRK	203447	broad.mit.edu	37	X	105179301	105179301	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:105179301C>T	uc004emd.2	+	21	3942	c.3639C>T	c.(3637-3639)TGC>TGT	p.C1213C	NRK_uc010npc.1_Silent_p.C881C	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1213	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14															HNSCC(51;0.14)			---	---	---	---
MUM1L1	139221	broad.mit.edu	37	X	105451074	105451074	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:105451074A>G	uc004emf.1	+	4	2298	c.1649A>G	c.(1648-1650)GAC>GGC	p.D550G	MUM1L1_uc004emg.1_Missense_Mutation_p.D550G	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	550										ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
TBC1D8B	54885	broad.mit.edu	37	X	106070528	106070528	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:106070528C>T	uc004emo.2	+	7	1329	c.1164C>T	c.(1162-1164)TGC>TGT	p.C388C	MORC4_uc004emp.3_Intron|TBC1D8B_uc004emm.2_Silent_p.C388C|TBC1D8B_uc004emn.2_Silent_p.C388C	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	388						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
MORC4	79710	broad.mit.edu	37	X	106236537	106236537	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:106236537C>A	uc004emu.3	-	3	474	c.231G>T	c.(229-231)GAG>GAT	p.E77D	MORC4_uc004emp.3_Translation_Start_Site|MORC4_uc004emv.3_Missense_Mutation_p.E77D|MORC4_uc004emw.3_Translation_Start_Site	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	zinc finger, CW type with coiled-coil domain 2	77							ATP binding|zinc ion binding			ovary(1)	1																		---	---	---	---
COL4A6	1288	broad.mit.edu	37	X	107448667	107448667	+	Splice_Site	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:107448667A>G	uc004enw.3	-	11	793	c.690_splice	c.e11+1	p.K230_splice	COL4A6_uc004env.3_Splice_Site_p.K229_splice|COL4A6_uc011msn.1_Splice_Site_p.K229_splice|COL4A6_uc010npk.2_Splice_Site_p.K229_splice	NM_001847	NP_001838			type IV alpha 6 collagen isoform A precursor						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				---	---	---	---
CAPN6	827	broad.mit.edu	37	X	110494317	110494317	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:110494317T>G	uc004epc.1	-	8	1154	c.986A>C	c.(985-987)GAC>GCC	p.D329A	CAPN6_uc011msu.1_Missense_Mutation_p.D74A	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	calpain 6	329	Calpain catalytic.				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																		---	---	---	---
ALG13	79868	broad.mit.edu	37	X	111002996	111002996	+	Silent	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:111002996T>G	uc011msy.1	+	27	3217	c.3183T>G	c.(3181-3183)CCT>CCG	p.P1061P	ALG13_uc011msx.1_Silent_p.P878P|ALG13_uc011msz.1_Silent_p.P983P|ALG13_uc011mta.1_Silent_p.P878P|ALG13_uc011mtb.1_Silent_p.P878P			Q9NP73	ALG13_HUMAN	SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);	1061					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																		---	---	---	---
CXorf56	63932	broad.mit.edu	37	X	118694234	118694234	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:118694234C>T	uc004erk.1	-	2	285	c.239G>A	c.(238-240)CGG>CAG	p.R80Q	CXorf56_uc004erj.1_Missense_Mutation_p.R31Q|CXorf56_uc011mtu.1_Missense_Mutation_p.R80Q	NM_022101	NP_071384	Q9H5V9	CX056_HUMAN	hypothetical protein LOC63932	80							protein binding				0																		---	---	---	---
AKAP14	158798	broad.mit.edu	37	X	119048691	119048691	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:119048691T>C	uc004ese.2	+	5	429	c.291T>C	c.(289-291)CAT>CAC	p.H97H	AKAP14_uc004esf.2_Intron	NM_178813	NP_848928	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14 isoform a	97						cytoplasm					0																		---	---	---	---
C1GALT1C1	29071	broad.mit.edu	37	X	119760212	119760212	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:119760212A>C	uc004esy.2	-	3	1157	c.810T>G	c.(808-810)TGT>TGG	p.C270W	C1GALT1C1_uc004esz.2_Missense_Mutation_p.C270W	NM_152692	NP_689905	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	270	Lumenal (Potential).					integral to membrane					0																		---	---	---	---
GLUD2	2747	broad.mit.edu	37	X	120182522	120182522	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:120182522T>C	uc004eto.2	+	1	1061	c.984T>C	c.(982-984)ATT>ATC	p.I328I		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	328					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)													---	---	---	---
THOC2	57187	broad.mit.edu	37	X	122747892	122747892	+	Intron	SNP	A	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:122747892A>T	uc004etu.2	-						THOC2_uc010nqt.1_Intron|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																		---	---	---	---
STAG2	10735	broad.mit.edu	37	X	123196831	123196831	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:123196831A>G	uc004etz.3	+	17	2057	c.1718A>G	c.(1717-1719)CAG>CGG	p.Q573R	STAG2_uc004eua.2_Missense_Mutation_p.Q573R|STAG2_uc004eub.2_Missense_Mutation_p.Q573R|STAG2_uc004euc.2_Missense_Mutation_p.Q573R|STAG2_uc004eud.2_Missense_Mutation_p.Q573R|STAG2_uc004eue.2_Missense_Mutation_p.Q573R	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	573					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5																		---	---	---	---
STAG2	10735	broad.mit.edu	37	X	123217382	123217382	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:123217382A>G	uc004etz.3	+	28	3375	c.3036A>G	c.(3034-3036)CGA>CGG	p.R1012R	STAG2_uc004eua.2_Silent_p.R1012R|STAG2_uc004eub.2_Silent_p.R1012R|STAG2_uc004euc.2_Silent_p.R1012R|STAG2_uc004eud.2_Silent_p.R1012R|STAG2_uc004eue.2_Silent_p.R1012R	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	1012					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5																		---	---	---	---
ODZ1	10178	broad.mit.edu	37	X	123775719	123775719	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:123775719A>T	uc004euj.2	-	11	2063	c.1999T>A	c.(1999-2001)TCA>ACA	p.S667T	ODZ1_uc011muj.1_Missense_Mutation_p.S666T|ODZ1_uc010nqy.2_Missense_Mutation_p.S667T	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	667	EGF-like 5.|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	123775729	123775729	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:123775729T>G	uc004euj.2	-	11	2053	c.1989A>C	c.(1987-1989)CAA>CAC	p.Q663H	ODZ1_uc011muj.1_Missense_Mutation_p.Q662H|ODZ1_uc010nqy.2_Missense_Mutation_p.Q663H	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	663	EGF-like 5.|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																		---	---	---	---
ZDHHC9	51114	broad.mit.edu	37	X	128944952	128944952	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:128944952G>A	uc004euv.2	-	9	1276	c.907C>T	c.(907-909)CCA>TCA	p.P303S	ZDHHC9_uc004euw.2_Missense_Mutation_p.P303S	NM_001008222	NP_001008223	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC domain containing 9	303	Cytoplasmic (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)	1																		---	---	---	---
ZNF280C	55609	broad.mit.edu	37	X	129380885	129380885	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129380885G>A	uc004evm.2	-	3	280	c.126C>T	c.(124-126)GAC>GAT	p.D42D	ZNF280C_uc010nrf.1_Silent_p.D42D	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	42					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)	3																		---	---	---	---
DDX26B	203522	broad.mit.edu	37	X	134703344	134703344	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:134703344A>G	uc004eyw.3	+	10	1638	c.1275A>G	c.(1273-1275)CCA>CCG	p.P425P	DDX26B_uc004eyx.3_5'UTR	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	425											0	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MAP7D3	79649	broad.mit.edu	37	X	135314039	135314039	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135314039G>A	uc004ezt.2	-	8	1168	c.1077C>T	c.(1075-1077)GAC>GAT	p.D359D	MAP7D3_uc004ezs.2_Silent_p.D323D|MAP7D3_uc011mwc.1_Silent_p.D341D|MAP7D3_uc010nsa.1_Silent_p.D317D	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	359						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
FGF13	2258	broad.mit.edu	37	X	137715071	137715071	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:137715071G>T	uc004fam.2	-	5	1340	c.678C>A	c.(676-678)AGC>AGA	p.S226R	FGF13_uc004fan.2_Missense_Mutation_p.S173R|FGF13_uc011mwi.1_Missense_Mutation_p.S207R|FGF13_uc004faq.2_Missense_Mutation_p.S236R|FGF13_uc004far.2_Missense_Mutation_p.S207R|FGF13_uc011mwj.1_Missense_Mutation_p.S236R|FGF13_uc011mwk.1_Missense_Mutation_p.S180R	NM_004114	NP_004105	Q92913	FGF13_HUMAN	fibroblast growth factor 13 isoform 1	226					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
SOX3	6658	broad.mit.edu	37	X	139586596	139586596	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:139586596C>T	uc004fbd.1	-	1	630	c.630G>A	c.(628-630)CCG>CCA	p.P210P		NM_005634	NP_005625	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	210					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)																	---	---	---	---
MAGEC3	139081	broad.mit.edu	37	X	140953283	140953283	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:140953283C>A	uc011mwp.1	+	2	150	c.150C>A	c.(148-150)GAC>GAA	p.D50E		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	50								p.D50N(1)		skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MAGEA3	4102	broad.mit.edu	37	X	151935622	151935622	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:151935622A>G	uc004fgp.2	-	3	754	c.545T>C	c.(544-546)CTG>CCG	p.L182P		NM_005362	NP_005353	P43357	MAGA3_HUMAN	melanoma antigen family A, 3	182	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
NSDHL	50814	broad.mit.edu	37	X	152018835	152018835	+	Silent	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152018835C>A	uc004fgt.1	+	4	396	c.135C>A	c.(133-135)GGC>GGA	p.G45G	NSDHL_uc004fgs.1_Silent_p.G45G	NM_001129765	NP_001123237	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	45					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)													---	---	---	---
ZNF275	10838	broad.mit.edu	37	X	152612686	152612686	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152612686C>T	uc004fhg.1	+	4	720	c.543C>T	c.(541-543)TTC>TTT	p.F181F	ZNF275_uc011mym.1_Silent_p.F181F|ZNF275_uc011myn.1_Silent_p.F118F			A6NFS0	A6NFS0_HUMAN	SubName: Full=cDNA FLJ16723 fis, clone UTERU3004418, highly similar to Zinc finger protein 275; SubName: Full=Putative uncharacterized protein ZNF275;	181						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
BGN	633	broad.mit.edu	37	X	152770093	152770093	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152770093T>C	uc004fhr.1	+	2	176	c.4T>C	c.(4-6)TGG>CGG	p.W2R	BGN_uc004fhq.1_RNA	NM_001711	NP_001702	P21810	PGS1_HUMAN	biglycan preproprotein	2						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)	2	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
PDZD4	57595	broad.mit.edu	37	X	153073995	153073995	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153073995C>T	uc004fiz.1	-	2	366	c.116G>A	c.(115-117)CGC>CAC	p.R39H	PDZD4_uc004fiy.1_5'UTR|PDZD4_uc004fix.2_5'UTR|PDZD4_uc004fja.1_Missense_Mutation_p.R39H|PDZD4_uc011mze.1_Intron	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	39			R -> C (in a breast cancer sample; somatic mutation).			cell cortex		p.R39C(1)		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)																	---	---	---	---
ARHGAP4	393	broad.mit.edu	37	X	153174968	153174968	+	Silent	SNP	G	A	A	rs61749033	byFrequency	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153174968G>A	uc004fjk.1	-	20	2478	c.2436C>T	c.(2434-2436)GGC>GGT	p.G812G	ARHGAP4_uc004fjj.1_Silent_p.G163G|ARHGAP4_uc011mzf.1_Silent_p.G789G|ARHGAP4_uc004fjl.1_Silent_p.G852G|ARHGAP4_uc010nup.1_RNA	NM_001666	NP_001657	P98171	RHG04_HUMAN	Rho GTPase activating protein 4 isoform 2	812					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(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)																	---	---	---	---
FLNA	2316	broad.mit.edu	37	X	153596212	153596212	+	Missense_Mutation	SNP	G	A	A	rs28935469		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153596212G>A	uc004fkk.2	-	3	869	c.620C>T	c.(619-621)CCG>CTG	p.P207L	FLNA_uc010nuu.1_Missense_Mutation_p.P207L	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	207	CH 2.|Actin-binding.				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)																	---	---	---	---
TAZ	6901	broad.mit.edu	37	X	153640245	153640245	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153640245G>A	uc004fkx.2	+	1	369	c.65G>A	c.(64-66)AGC>AAC	p.S22N	DNASE1L1_uc004fks.1_5'Flank|DNASE1L1_uc004fkt.1_5'Flank|DNASE1L1_uc004fku.1_5'UTR|DNASE1L1_uc004fkv.1_5'UTR|DNASE1L1_uc004fkw.1_5'UTR|TAZ_uc004fky.2_Missense_Mutation_p.S22N|TAZ_uc004fkz.2_RNA|TAZ_uc004fla.2_Missense_Mutation_p.S22N|TAZ_uc004flb.2_Missense_Mutation_p.S22N|TAZ_uc010nuy.2_Missense_Mutation_p.S22N|TAZ_uc004flc.3_Missense_Mutation_p.S22N	NM_000116	NP_000107	Q16635	TAZ_HUMAN	tafazzin isoform 1	22	Helical; Signal-anchor; (Potential).				cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity				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)																	---	---	---	---
SAMD11	148398	broad.mit.edu	37	1	879452	879452	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:879452C>T	uc001abw.1	+	14	2045	c.1965C>T	c.(1963-1965)GCC>GCT	p.A655A	SAMD11_uc001abx.1_Silent_p.A518A	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	655						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	980635	980635	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:980635C>T	uc001ack.1	+	13	2399	c.2349C>T	c.(2347-2349)GGC>GGT	p.G783G		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	783					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)														---	---	---	---
PRDM16	63976	broad.mit.edu	37	1	3322154	3322154	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:3322154C>T	uc001akf.2	+	8	1208	c.1128C>T	c.(1126-1128)GCC>GCT	p.A376A	PRDM16_uc001akc.2_Silent_p.A376A|PRDM16_uc001akd.2_Silent_p.A376A|PRDM16_uc001ake.2_Silent_p.A376A|PRDM16_uc009vlh.2_Silent_p.A77A	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	376	C2H2-type 5.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)				T	EVI1	MDS|AML								---	---	---	---
GPR153	387509	broad.mit.edu	37	1	6314182	6314182	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6314182C>T	uc001amp.1	-	3	642	c.382G>A	c.(382-384)GTG>ATG	p.V128M		NM_207370	NP_997253	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	128	Helical; Name=4; (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)														---	---	---	---
RERE	473	broad.mit.edu	37	1	8419854	8419854	+	Silent	SNP	T	C	C	rs149634880	byFrequency	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:8419854T>C	uc001ape.2	-	20	4398	c.3588A>G	c.(3586-3588)CGA>CGG	p.R1196R	RERE_uc001apf.2_Silent_p.R1196R|RERE_uc001apd.2_Silent_p.R642R	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1196	Arg/Glu-rich (mixed charge).|Potential.				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)														---	---	---	---
TMEM201	199953	broad.mit.edu	37	1	9655959	9655959	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:9655959C>T	uc001apz.2	+	2	137	c.125C>T	c.(124-126)ACG>ATG	p.T42M	TMEM201_uc001apy.2_Missense_Mutation_p.T42M	NM_001130924	NP_001124396	Q5SNT2	TM201_HUMAN	transmembrane protein 201 isoform 1	42						integral to membrane|nuclear inner membrane					0	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|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)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)														---	---	---	---
MTOR	2475	broad.mit.edu	37	1	11184566	11184566	+	Silent	SNP	C	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11184566C>G	uc001asd.2	-	47	6772	c.6651G>C	c.(6649-6651)CGG>CGC	p.R2217R	MTOR_uc001asc.2_Silent_p.R422R	NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	2217	PI3K/PI4K.				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																		---	---	---	---
MAD2L2	10459	broad.mit.edu	37	1	11735241	11735241	+	Intron	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11735241A>C	uc001asp.2	-						MAD2L2_uc009vnc.2_Intron|MAD2L2_uc001asq.3_Intron	NM_006341	NP_006332			MAD2 homolog						cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding				0	Ovarian(185;0.249)	Lung NSC(185;4.15e-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;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
MFN2	9927	broad.mit.edu	37	1	12052744	12052744	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12052744G>T	uc001atn.3	+	4	761	c.308G>T	c.(307-309)GGC>GTC	p.G103V	MFN2_uc009vni.2_Missense_Mutation_p.G103V	NM_014874	NP_055689	O95140	MFN2_HUMAN	mitofusin 2	103	Cytoplasmic (Potential).|GTP (Probable).				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)	1	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;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)														---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12328778	12328778	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12328778G>A	uc001atv.2	+	16	1958	c.1817G>A	c.(1816-1818)GGC>GAC	p.G606D	VPS13D_uc001atw.2_Missense_Mutation_p.G606D	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	606					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)														---	---	---	---
KAZ	23254	broad.mit.edu	37	1	15370596	15370596	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:15370596C>T	uc001avm.3	+	4	948	c.667C>T	c.(667-669)CGC>TGC	p.R223C	KAZ_uc009vog.1_Missense_Mutation_p.R223C|KAZ_uc010obj.1_Missense_Mutation_p.R223C|KAZ_uc001avo.2_Missense_Mutation_p.R217C|KAZ_uc001avp.2_Missense_Mutation_p.R129C|KAZ_uc001avq.2_Missense_Mutation_p.R129C|KAZ_uc001avr.2_Missense_Mutation_p.R126C	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	kazrin isoform E	223	Interaction with PPL.|Potential.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus					0																		---	---	---	---
FBLIM1	54751	broad.mit.edu	37	1	16091512	16091512	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16091512T>C	uc001axd.1	+	4	477	c.34T>C	c.(34-36)TCT>CCT	p.S12P	FBLIM1_uc001axe.1_Missense_Mutation_p.S12P|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axg.1_Missense_Mutation_p.S12P|FBLIM1_uc001axh.1_Missense_Mutation_p.S12P|FBLIM1_uc001axi.1_Missense_Mutation_p.S12P	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	filamin-binding LIM protein-1 isoform a	12	Filamin-binding.				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	16265849	16265849	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16265849G>A	uc001axk.1	+	15	11126	c.10922G>A	c.(10921-10923)CGC>CAC	p.R3641H	SPEN_uc010obp.1_Missense_Mutation_p.R3600H	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	3641	SPOC.				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)														---	---	---	---
ARHGEF10L	55160	broad.mit.edu	37	1	18014124	18014124	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:18014124G>A	uc001ban.2	+	27	3225	c.3066G>A	c.(3064-3066)GCG>GCA	p.A1022A	ARHGEF10L_uc009vpe.1_Silent_p.A983A|ARHGEF10L_uc001bao.2_Silent_p.A983A|ARHGEF10L_uc001bap.2_Silent_p.A978A|ARHGEF10L_uc001baq.2_Silent_p.A783A|ARHGEF10L_uc010ocs.1_Silent_p.A795A|ARHGEF10L_uc001bar.2_Silent_p.A725A|ARHGEF10L_uc009vpf.2_RNA	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	1022					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	19404515	19404515	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19404515G>A	uc001bbi.2	-	104	15283	c.15279C>T	c.(15277-15279)TCC>TCT	p.S5093S	UBR4_uc001bbe.1_5'Flank|UBR4_uc001bbf.2_5'UTR|UBR4_uc010ocv.1_Silent_p.S616S|UBR4_uc009vph.2_Silent_p.S727S|UBR4_uc010ocw.1_Silent_p.S757S|UBR4_uc001bbg.2_Silent_p.S804S|UBR4_uc001bbh.2_Silent_p.S802S	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	5093					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)														---	---	---	---
KIF17	57576	broad.mit.edu	37	1	20996969	20996969	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:20996969G>T	uc001bdr.3	-	13	2856	c.2738C>A	c.(2737-2739)CCA>CAA	p.P913Q	KIF17_uc001bdp.3_Missense_Mutation_p.P190Q|KIF17_uc001bdq.3_Missense_Mutation_p.P191Q|KIF17_uc009vpx.2_Missense_Mutation_p.P283Q|KIF17_uc001bds.3_Missense_Mutation_p.P912Q	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	913					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)														---	---	---	---
KIF17	57576	broad.mit.edu	37	1	20998683	20998683	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:20998683C>T	uc001bdr.3	-	12	2588	c.2470G>A	c.(2470-2472)GCA>ACA	p.A824T	KIF17_uc001bdp.3_Missense_Mutation_p.A102T|KIF17_uc001bdq.3_Missense_Mutation_p.A102T|KIF17_uc009vpx.2_Missense_Mutation_p.A194T|KIF17_uc001bds.3_Missense_Mutation_p.A824T	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	824	Potential.				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)														---	---	---	---
RAP1GAP	5909	broad.mit.edu	37	1	21929337	21929337	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21929337C>T	uc001bex.2	-	19	1756	c.1498G>A	c.(1498-1500)GCC>ACC	p.A500T	RAP1GAP_uc001bev.2_Missense_Mutation_p.A585T|RAP1GAP_uc001bew.2_Missense_Mutation_p.A564T|RAP1GAP_uc001bey.2_Missense_Mutation_p.A526T	NM_002885	NP_002876	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein isoform c	500					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)														---	---	---	---
HTR1D	3352	broad.mit.edu	37	1	23520100	23520100	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23520100C>A	uc001bgn.2	-	1	1123	c.613G>T	c.(613-615)GCC>TCC	p.A205S		NM_000864	NP_000855	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D	205	Helical; Name=5; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)													---	---	---	---
HNRNPR	10236	broad.mit.edu	37	1	23637569	23637569	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23637569T>C	uc001bgr.3	-						HNRNPR_uc001bgo.2_Intron|HNRNPR_uc001bgp.3_Intron|HNRNPR_uc009vqk.2_Intron|HNRNPR_uc001bgs.3_Intron|HNRNPR_uc010odw.1_Intron|HNRNPR_uc010odx.1_Intron|HNRNPR_uc009vql.2_Intron	NM_005826	NP_005817			heterogeneous nuclear ribonucleoprotein R							catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)														---	---	---	---
GRHL3	57822	broad.mit.edu	37	1	24663276	24663276	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24663276C>T	uc001biy.2	+	4	632	c.586C>T	c.(586-588)CGC>TGC	p.R196C	GRHL3_uc001bix.2_Missense_Mutation_p.R191C|GRHL3_uc001biz.2_Missense_Mutation_p.R98C	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	191					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)														---	---	---	---
SRRM1	10250	broad.mit.edu	37	1	24995891	24995891	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24995891G>A	uc001bjm.2	+	14	2241	c.2017G>A	c.(2017-2019)GCC>ACC	p.A673T	SRRM1_uc010oel.1_Missense_Mutation_p.A685T|SRRM1_uc009vrh.1_Missense_Mutation_p.A646T|SRRM1_uc009vri.1_Missense_Mutation_p.A602T	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	673	Pro-rich.|Necessary for speckles and matrix localization.|Arg-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)														---	---	---	---
SLC9A1	6548	broad.mit.edu	37	1	27436018	27436018	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27436018G>A	uc001bnm.2	-	3	1690	c.1064C>T	c.(1063-1065)GCG>GTG	p.A355V	SLC9A1_uc010ofk.1_Missense_Mutation_p.A16V|SLC9A1_uc001bnn.2_Missense_Mutation_p.A355V	NM_003047	NP_003038	P19634	SL9A1_HUMAN	solute carrier family 9, isoform A1	355	Helical; Name=M9; (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)													---	---	---	---
WDTC1	23038	broad.mit.edu	37	1	27614178	27614178	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27614178C>G	uc009vst.2	+	6	840	c.305C>G	c.(304-306)GCT>GGT	p.A102G	WDTC1_uc001bno.2_Missense_Mutation_p.A102G|WDTC1_uc001bnp.1_RNA	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	102	WD 2.						protein binding			ovary(1)|central_nervous_system(1)	2		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)														---	---	---	---
RNF19B	127544	broad.mit.edu	37	1	33402626	33402626	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:33402626A>G	uc010oho.1	-	9	1980	c.1980T>C	c.(1978-1980)CCT>CCC	p.P660P	RNF19B_uc001bwm.3_3'UTR|RNF19B_uc010ohp.1_Silent_p.P659P	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B isoform a	660						integral to membrane	ligase activity|protein binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)																---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34076667	34076667	+	Missense_Mutation	SNP	C	T	T	rs142970674	byFrequency	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:34076667C>T	uc001bxn.1	-	41	6226	c.6197G>A	c.(6196-6198)CGG>CAG	p.R2066Q	CSMD2_uc001bxm.1_Missense_Mutation_p.R2106Q|CSMD2_uc001bxo.1_Missense_Mutation_p.R979Q	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2066	CUB 12.|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)																---	---	---	---
GJA4	2701	broad.mit.edu	37	1	35259929	35259929	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:35259929C>A	uc001bya.2	+	2	203	c.115C>A	c.(115-117)CTG>ATG	p.L39M	GJA4_uc009vul.2_Missense_Mutation_p.L115M|GJA4_uc009vum.1_Missense_Mutation_p.L39M	NM_002060	NP_002051	P35212	CXA4_HUMAN	connexin 37	39	Helical; (Potential).				cell-cell junction assembly	integral to plasma membrane				central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)																---	---	---	---
TFAP2E	339488	broad.mit.edu	37	1	36040586	36040586	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36040586T>A	uc010ohy.1	+	3	755	c.547T>A	c.(547-549)TCC>ACC	p.S183T	PSMB2_uc001bzd.1_Intron	NM_178548	NP_848643	Q6VUC0	AP2E_HUMAN	transcription factor AP-2 epsilon (activating	183						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)																---	---	---	---
OSCP1	127700	broad.mit.edu	37	1	36915870	36915870	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36915870T>G	uc001cap.2	-	1	183	c.101A>C	c.(100-102)AAG>ACG	p.K34T	OSCP1_uc001caq.2_Missense_Mutation_p.K34T|OSCP1_uc001car.2_Missense_Mutation_p.K34T	NM_145047	NP_659484	Q8WVF1	OSCP1_HUMAN	oxidored-nitro domain-containing protein isoform	34					transport	basal plasma membrane				ovary(2)|central_nervous_system(1)|pancreas(1)	4																OREG0013369	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
RHBDL2	54933	broad.mit.edu	37	1	39358878	39358878	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39358878G>T	uc001ccu.1	-	6	856	c.628C>A	c.(628-630)CCT>ACT	p.P210T	RHBDL2_uc010oin.1_Missense_Mutation_p.P210T|RHBDL2_uc010oio.1_Missense_Mutation_p.P290T	NM_017821	NP_060291	Q9NX52	RHBL2_HUMAN	rhomboid protease 2	210					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity				0	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)															---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39823348	39823348	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39823348G>A	uc010oiu.1	+	9	7177	c.7046G>A	c.(7045-7047)AGC>AAC	p.S2349N	MACF1_uc010ois.1_Missense_Mutation_p.S1847N|MACF1_uc001cda.1_Missense_Mutation_p.S1755N|MACF1_uc001cdc.1_Missense_Mutation_p.S934N|MACF1_uc001cdb.1_Missense_Mutation_p.S934N	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	3914	Spectrin 1.				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	39919406	39919406	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39919406C>T	uc010oiu.1	+	53	16230	c.16099C>T	c.(16099-16101)CGA>TGA	p.R5367*	MACF1_uc010ois.1_Nonsense_Mutation_p.R4865*	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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)															---	---	---	---
DEM1	64789	broad.mit.edu	37	1	40980785	40980785	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40980785G>A	uc001cfp.2	+	3	774	c.569G>A	c.(568-570)GGG>GAG	p.G190E	DEM1_uc001cfq.2_Missense_Mutation_p.G190E|DEM1_uc001cfr.2_Missense_Mutation_p.G190E|DEM1_uc001cfs.2_Missense_Mutation_p.G190E	NM_022774	NP_073611	Q9H790	EXO5_HUMAN	defects in morphology 1 homolog	190							DNA binding|exonuclease activity				0																		---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	41979370	41979370	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:41979370G>T	uc001cgz.3	-	8	6735	c.5522C>A	c.(5521-5523)GCT>GAT	p.A1841D	HIVEP3_uc001cha.3_Missense_Mutation_p.A1841D|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1841	Acidic 3.				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)																---	---	---	---
KIAA0467	23334	broad.mit.edu	37	1	43903006	43903006	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43903006G>A	uc001cjk.1	+							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)																---	---	---	---
ST3GAL3	6487	broad.mit.edu	37	1	44303981	44303981	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44303981C>T	uc001ckc.2	+	5	477	c.300C>T	c.(298-300)CCC>CCT	p.P100P	ST3GAL3_uc009vwu.1_RNA|ST3GAL3_uc010okj.1_RNA|ST3GAL3_uc001cjz.2_Silent_p.P115P|ST3GAL3_uc001cka.2_Silent_p.P84P|ST3GAL3_uc001ckb.2_Silent_p.P169P|ST3GAL3_uc001ckd.2_Silent_p.P154P|ST3GAL3_uc001cke.2_Silent_p.P84P|ST3GAL3_uc001ckf.2_Silent_p.P138P|ST3GAL3_uc001ckg.2_Silent_p.P100P|ST3GAL3_uc001ckh.2_Silent_p.P115P|ST3GAL3_uc001cki.2_Silent_p.P100P|ST3GAL3_uc009vwv.2_Silent_p.P100P|ST3GAL3_uc001ckj.2_RNA|ST3GAL3_uc009vww.2_RNA|ST3GAL3_uc001ckk.2_Intron|ST3GAL3_uc009vwy.2_Silent_p.P6P|ST3GAL3_uc009vwx.2_RNA|ST3GAL3_uc001ckm.2_Silent_p.P99P|ST3GAL3_uc001ckl.2_Silent_p.P100P|ST3GAL3_uc009vwz.2_5'UTR|ST3GAL3_uc001ckn.2_RNA|ST3GAL3_uc001ckp.2_Silent_p.P99P|ST3GAL3_uc001cko.2_Silent_p.P84P|ST3GAL3_uc009vxa.2_Intron|ST3GAL3_uc001ckq.2_Silent_p.P84P|ST3GAL3_uc001ckr.2_Intron|ST3GAL3_uc009vxb.2_Silent_p.P84P	NM_006279	NP_006270	Q11203	SIAT6_HUMAN	sialyltransferase 6 isoform j	100	Lumenal (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			ovary(3)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)																---	---	---	---
POMGNT1	55624	broad.mit.edu	37	1	46661685	46661685	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46661685G>A	uc001cpe.2	-	5	583	c.419C>T	c.(418-420)ACG>ATG	p.T140M	POMGNT1_uc010olx.1_Missense_Mutation_p.T118M|POMGNT1_uc010oly.1_RNA|POMGNT1_uc010olz.1_Translation_Start_Site|POMGNT1_uc001cpg.2_Missense_Mutation_p.T140M|POMGNT1_uc001cpf.2_Translation_Start_Site|POMGNT1_uc001cpj.2_Missense_Mutation_p.T124M	NM_017739	NP_060209	Q8WZA1	PMGT1_HUMAN	O-linked mannose	140	Lumenal (Potential).				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)																	---	---	---	---
CYP4A11	1579	broad.mit.edu	37	1	47401267	47401267	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47401267T>C	uc001cqp.3	-	5	614	c.563A>G	c.(562-564)CAC>CGC	p.H188R	CYP4A11_uc001cqq.2_Missense_Mutation_p.H188R|CYP4A11_uc010omm.1_RNA	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A,	188					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			ovary(2)|skin(2)	4					NADH(DB00157)													---	---	---	---
CYP4X1	260293	broad.mit.edu	37	1	47512186	47512186	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47512186C>T	uc001cqt.2	+	9	1371	c.1121C>T	c.(1120-1122)ACG>ATG	p.T374M	CYP4X1_uc001cqr.2_Missense_Mutation_p.T373M|CYP4X1_uc001cqs.2_Missense_Mutation_p.T309M	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X,	374						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)|skin(1)	2																		---	---	---	---
ECHDC2	55268	broad.mit.edu	37	1	53364883	53364883	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53364883A>G	uc001cup.3	-	8	962	c.716T>C	c.(715-717)GTG>GCG	p.V239A	ECHDC2_uc001cun.2_Missense_Mutation_p.V162A|ECHDC2_uc001cuo.3_Missense_Mutation_p.V208A|ECHDC2_uc010onk.1_Missense_Mutation_p.V193A	NM_018281	NP_060751	Q86YB7	ECHD2_HUMAN	enoyl Coenzyme A hydratase domain containing 2	239					fatty acid metabolic process	mitochondrion	lyase activity			central_nervous_system(1)	1																		---	---	---	---
ECHDC2	55268	broad.mit.edu	37	1	53377251	53377251	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53377251G>A	uc001cup.3	-	3	510	c.264C>T	c.(262-264)GGC>GGT	p.G88G	ECHDC2_uc001cun.2_Silent_p.G42G|ECHDC2_uc001cuo.3_Silent_p.G88G|ECHDC2_uc010onk.1_Silent_p.G42G|ECHDC2_uc010onl.1_Silent_p.G42G|ECHDC2_uc010onm.1_Silent_p.G42G|ECHDC2_uc010onn.1_Silent_p.G42G	NM_018281	NP_060751	Q86YB7	ECHD2_HUMAN	enoyl Coenzyme A hydratase domain containing 2	88					fatty acid metabolic process	mitochondrion	lyase activity			central_nervous_system(1)	1																		---	---	---	---
DMRTB1	63948	broad.mit.edu	37	1	53932347	53932347	+	3'UTR	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53932347G>A	uc001cvq.1	+	4						NM_033067	NP_149056			DMRT-like family B with proline-rich C-terminal,						sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2																		---	---	---	---
C1orf177	163747	broad.mit.edu	37	1	55277501	55277501	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:55277501A>C	uc001cyb.3	+	5	569	c.515A>C	c.(514-516)AAG>ACG	p.K172T	C1orf177_uc001cya.3_Missense_Mutation_p.K172T	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	hypothetical protein LOC163747 isoform 2	172											0																		---	---	---	---
C1orf177	163747	broad.mit.edu	37	1	55279599	55279599	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:55279599C>A	uc001cyb.3	+	7	929	c.875C>A	c.(874-876)CCT>CAT	p.P292H	C1orf177_uc001cya.3_Missense_Mutation_p.P292H	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	hypothetical protein LOC163747 isoform 2	292											0																		---	---	---	---
PCSK9	255738	broad.mit.edu	37	1	55512210	55512210	+	Silent	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:55512210C>A	uc001cyf.1	+	3	705	c.414C>A	c.(412-414)CCC>CCA	p.P138P	PCSK9_uc010ool.1_RNA|PCSK9_uc010oom.1_Intron	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	138					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																		---	---	---	---
DAB1	1600	broad.mit.edu	37	1	57489218	57489218	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:57489218G>A	uc001cys.1	-	13	1555	c.881C>T	c.(880-882)GCT>GTT	p.A294V	DAB1_uc001cyt.1_Missense_Mutation_p.A292V|DAB1_uc001cyq.1_Missense_Mutation_p.A292V|DAB1_uc001cyr.1_Missense_Mutation_p.A208V|DAB1_uc009vzw.1_Missense_Mutation_p.A276V|DAB1_uc009vzx.1_Missense_Mutation_p.A294V	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	327					cell differentiation|nervous system development					skin(2)|ovary(1)	3																		---	---	---	---
PDE4B	5142	broad.mit.edu	37	1	66833502	66833502	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:66833502G>A	uc001dcn.2	+	14	1699	c.1508G>A	c.(1507-1509)CGT>CAT	p.R503H	PDE4B_uc009war.2_Missense_Mutation_p.R411H|PDE4B_uc001dco.2_Missense_Mutation_p.R503H|PDE4B_uc001dcp.2_Missense_Mutation_p.R488H|PDE4B_uc001dcq.2_Missense_Mutation_p.R331H|PDE4B_uc009was.2_Missense_Mutation_p.R270H	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN	phosphodiesterase 4B isoform 1	503					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)													---	---	---	---
WDR78	79819	broad.mit.edu	37	1	67306239	67306239	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:67306239G>A	uc001dcx.2	-	9	1463	c.1407C>T	c.(1405-1407)CCC>CCT	p.P469P	WDR78_uc001dcy.2_Silent_p.P469P|WDR78_uc009waw.2_Silent_p.P215P|WDR78_uc009wax.2_RNA	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	WD repeat domain 78 isoform 1	469										ovary(2)	2																		---	---	---	---
FPGT	8790	broad.mit.edu	37	1	74670742	74670742	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:74670742A>G	uc001dgb.1	+	4	1048	c.1011A>G	c.(1009-1011)ATA>ATG	p.I337M	TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron	NM_003838	NP_003829	O14772	FPGT_HUMAN	fucose-1-phosphate guanyltransferase	337					fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding			skin(1)	1																		---	---	---	---
TNNI3K	51086	broad.mit.edu	37	1	74835236	74835236	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:74835236G>A	uc001dgf.1	+	16	1685	c.1634G>A	c.(1633-1635)GGT>GAT	p.G545D	TNNI3K_uc001dgc.1_Missense_Mutation_p.G646D|TNNI3K_uc001dgd.2_Missense_Mutation_p.G646D|TNNI3K_uc001dge.1_Missense_Mutation_p.G646D	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	545	Protein kinase.					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																		---	---	---	---
ABCA4	24	broad.mit.edu	37	1	94564484	94564484	+	Missense_Mutation	SNP	G	A	A	rs61750200		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94564484G>A	uc001dqh.2	-	6	738	c.634C>T	c.(634-636)CGC>TGC	p.R212C	ABCA4_uc010otn.1_Missense_Mutation_p.R212C	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	212	Extracellular.		R -> C (in STGD1 and CORD3; common mutation in southern Europe; reduced ATP- binding capacity).		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)														---	---	---	---
SLC35A3	23443	broad.mit.edu	37	1	100483314	100483314	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:100483314C>T	uc001dsp.1	+	7	1027	c.830C>T	c.(829-831)TCG>TTG	p.S277L	SLC35A3_uc001dsq.1_Missense_Mutation_p.S277L|SLC35A3_uc009wdy.1_Intron|SLC35A3_uc001dsr.1_Missense_Mutation_p.S319L|SLC35A3_uc001dss.1_Missense_Mutation_p.S196L	NM_012243	NP_036375	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 member 3A	277	Helical; (Potential).				UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity				0		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)														---	---	---	---
CELSR2	1952	broad.mit.edu	37	1	109811843	109811843	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109811843G>A	uc001dxa.3	+	20	6804	c.6743G>A	c.(6742-6744)AGC>AAC	p.S2248N		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2248	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)														---	---	---	---
CYB561D1	284613	broad.mit.edu	37	1	110038475	110038475	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110038475C>T	uc010ovn.1	+	3	345	c.284C>T	c.(283-285)GCA>GTA	p.A95V	CYB561D1_uc010ovl.1_Missense_Mutation_p.A38V|CYB561D1_uc010ovm.1_Missense_Mutation_p.A37V|CYB561D1_uc001dxu.2_Nonsense_Mutation_p.Q130*|CYB561D1_uc001dxw.2_3'UTR|CYB561D1_uc010ovo.1_Missense_Mutation_p.A117V|CYB561D1_uc009wfd.2_Missense_Mutation_p.A44V|CYB561D1_uc010ovp.1_Missense_Mutation_p.A29V	NM_182580	NP_872386	Q8N8Q1	C56D1_HUMAN	cytochrome b-561 domain containing 1 isoform 2	95	Cytochrome b561.|Helical; (Potential).				electron transport chain|transport	integral to membrane	metal ion binding				0		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)														---	---	---	---
KCNA3	3738	broad.mit.edu	37	1	111216271	111216271	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:111216271G>A	uc001dzv.1	-	1	1385	c.1161C>T	c.(1159-1161)CTC>CTT	p.L387L		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	387						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
WNT2B	7482	broad.mit.edu	37	1	113059876	113059876	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:113059876C>A	uc001ecb.2	+	4	1330	c.815C>A	c.(814-816)GCT>GAT	p.A272D	WNT2B_uc001eca.2_Missense_Mutation_p.A253D|WNT2B_uc009wgg.2_Missense_Mutation_p.A180D	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family,	272					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity	p.A272S(1)		ovary(2)|breast(2)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-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	113232051	113232051	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:113232051A>G	uc001eck.2	+	4	626	c.356A>G	c.(355-357)CAT>CGT	p.H119R	MOV10_uc001ecl.2_Missense_Mutation_p.H119R|MOV10_uc001ecn.2_Missense_Mutation_p.H119R|MOV10_uc001ecm.2_Missense_Mutation_p.H59R|MOV10_uc009wgj.1_Missense_Mutation_p.H59R	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	119					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	113237131	113237131	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:113237131G>A	uc001eck.2	+	9	1622	c.1352G>A	c.(1351-1353)CGC>CAC	p.R451H	MOV10_uc001ecl.2_Missense_Mutation_p.R451H|MOV10_uc001ecn.2_Missense_Mutation_p.R451H|MOV10_uc001ecm.2_Missense_Mutation_p.R391H|MOV10_uc009wgj.1_Missense_Mutation_p.R391H	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	451					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)														---	---	---	---
NOTCH2NL	388677	broad.mit.edu	37	1	145273302	145273302	+	Silent	SNP	A	T	T	rs143610505	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:145273302A>T	uc001emn.3	+	3	526	c.156A>T	c.(154-156)CGA>CGT	p.R52R	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Silent_p.R52R|NOTCH2NL_uc001emo.2_Silent_p.R52R|NOTCH2NL_uc010oyh.1_RNA	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Notch homolog 2 N-terminal like protein	52	EGF-like 2.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			ovary(1)	1																		---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152188455	152188455	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152188455A>G	uc001ezt.1	-	3	5726	c.5650T>C	c.(5650-5652)TAC>CAC	p.Y1884H		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	1884	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)															---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152329960	152329960	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152329960T>C	uc001ezw.3	-	3	375	c.302A>G	c.(301-303)AAG>AGG	p.K101R	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	101							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)															---	---	---	---
CRNN	49860	broad.mit.edu	37	1	152382638	152382638	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152382638C>T	uc001ezx.2	-	3	994	c.920G>A	c.(919-921)AGC>AAC	p.S307N		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	cornulin	307	Gln-rich.				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)															---	---	---	---
NUP210L	91181	broad.mit.edu	37	1	154098942	154098942	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154098942G>A	uc001fdw.2	-						NUP210L_uc009woq.2_Intron|NUP210L_uc010peh.1_Intron	NM_207308	NP_997191			nucleoporin 210kDa-like isoform 1							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)															---	---	---	---
DCST2	127579	broad.mit.edu	37	1	155004254	155004254	+	Intron	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155004254A>G	uc001fgm.2	-						DCST2_uc009wpb.2_Intron|DCST1_uc010per.1_5'Flank|DCST1_uc001fgn.1_5'Flank|DCST1_uc010pes.1_5'Flank	NM_144622	NP_653223			DC-STAMP domain containing 2							integral to membrane				ovary(2)|central_nervous_system(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)															---	---	---	---
EFNA1	1942	broad.mit.edu	37	1	155103820	155103820	+	Missense_Mutation	SNP	G	A	A	rs144975407		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155103820G>A	uc001fhh.2	+	2	203	c.98G>A	c.(97-99)CGG>CAG	p.R33Q	EFNA1_uc001fhi.2_Missense_Mutation_p.R33Q|EFNA1_uc009wpd.1_5'Flank	NM_004428	NP_004419	P20827	EFNA1_HUMAN	ephrin A1 isoform a precursor	33					angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading	extracellular region|integral to plasma membrane	ephrin receptor binding				0	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)															---	---	---	---
PKLR	5313	broad.mit.edu	37	1	155263247	155263247	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155263247C>T	uc001fkb.3	-	8	1290	c.1251G>A	c.(1249-1251)GCG>GCA	p.A417A	RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Silent_p.A386A	NM_000298	NP_000289	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC isoform 1	417					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			skin(4)|ovary(1)	5	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)													---	---	---	---
PKLR	5313	broad.mit.edu	37	1	155264098	155264098	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155264098C>A	uc001fkb.3	-	7	1083	c.1044G>T	c.(1042-1044)AAG>AAT	p.K348N	RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Missense_Mutation_p.K317N	NM_000298	NP_000289	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC isoform 1	348			K -> N (in PKRD; Kamata).|Missing (in PKRD; Brescia).		endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			skin(4)|ovary(1)	5	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)													---	---	---	---
FCRL3	115352	broad.mit.edu	37	1	157667456	157667456	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:157667456T>G	uc001frb.2	-	5	844	c.552A>C	c.(550-552)CAA>CAC	p.Q184H	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.Q184H|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'UTR|FCRL3_uc001frc.1_Missense_Mutation_p.Q184H	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	184	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)																	---	---	---	---
CD1D	912	broad.mit.edu	37	1	158151478	158151478	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158151478G>A	uc001frr.2	+	3	794	c.295G>A	c.(295-297)GTG>ATG	p.V99M	CD1D_uc009wsr.1_Missense_Mutation_p.V99M|CD1D_uc009wss.2_Missense_Mutation_p.V99M|CD1D_uc009wst.1_Translation_Start_Site	NM_001766	NP_001757	P15813	CD1D_HUMAN	CD1D antigen precursor	99	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)																	---	---	---	---
CCDC19	25790	broad.mit.edu	37	1	159857704	159857704	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159857704C>T	uc001fui.2	-	5	533	c.515G>A	c.(514-516)CGG>CAG	p.R172Q	CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.R87Q|CCDC19_uc001ful.2_Missense_Mutation_p.R87Q|CCDC19_uc009wtc.1_Missense_Mutation_p.R172Q	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	nasopharyngeal epithelium specific protein 1	172	Potential.					mitochondrion|soluble fraction				ovary(1)	1	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)															---	---	---	---
ATP1A4	480	broad.mit.edu	37	1	160137172	160137172	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160137172G>T	uc001fve.3	+	10	1940	c.1461G>T	c.(1459-1461)GAG>GAT	p.E487D	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_5'UTR	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	487	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	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	160252903	160252903	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160252903C>T	uc010pjc.1	-						PEX19_uc010pje.1_Intron|PEX19_uc001fvs.2_Intron|PEX19_uc001fvt.2_Intron	NM_015726	NP_056541			DDB1 and CUL4 associated factor 8							CUL4 RING ubiquitin ligase complex	protein binding			skin(2)	2																		---	---	---	---
SLAMF1	6504	broad.mit.edu	37	1	160607007	160607007	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160607007C>T	uc001fwl.3	-	2	735	c.389G>A	c.(388-390)CGC>CAC	p.R130H	SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_RNA|SLAMF1_uc001fwm.2_Missense_Mutation_p.R130H	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family	130	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)															---	---	---	---
USP21	27005	broad.mit.edu	37	1	161133376	161133376	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161133376C>T	uc010pke.1	+	8	1458	c.1081C>T	c.(1081-1083)CGT>TGT	p.R361C	USP21_uc010pkc.1_Missense_Mutation_p.R361C|USP21_uc010pkd.1_Missense_Mutation_p.R361C|USP21_uc010pkf.1_Missense_Mutation_p.R361C|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyn.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc001fyl.2_5'Flank|PPOX_uc001fym.2_5'Flank|PPOX_uc001fyk.2_5'Flank|PPOX_uc001fyh.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc009wuc.1_5'Flank|PPOX_uc010pkh.1_5'Flank|PPOX_uc001fyi.2_5'Flank	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	ubiquitin-specific protease 21	361					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)|prostate(1)|breast(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)															---	---	---	---
TOMM40L	84134	broad.mit.edu	37	1	161198233	161198233	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161198233C>A	uc001fzd.2	+	8	852	c.623C>A	c.(622-624)GCT>GAT	p.A208D	TOMM40L_uc010pkl.1_Missense_Mutation_p.A174D|TOMM40L_uc009wue.2_Missense_Mutation_p.A90D|TOMM40L_uc009wuf.1_RNA|TOMM40L_uc001fze.2_Missense_Mutation_p.A208D	NM_032174	NP_115550	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40	208					protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity			large_intestine(1)	1	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)															---	---	---	---
HSPA6	3310	broad.mit.edu	37	1	161495324	161495324	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161495324C>T	uc001gap.2	+	2	1536	c.876C>T	c.(874-876)GGC>GGT	p.G292G	HSPA6_uc001gaq.2_Silent_p.G292G	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	292					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)															---	---	---	---
FCGR3A	2214	broad.mit.edu	37	1	161518473	161518473	+	Intron	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161518473G>T	uc001gat.3	-						FCGR3A_uc001gar.2_Intron|FCGR3A_uc001gas.2_Intron|FCGR3A_uc009wuh.2_Intron|FCGR3A_uc009wui.2_Intron	NM_001127595	NP_001121067			Fc fragment of IgG, low affinity IIIa, receptor						immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			ovary(1)	1	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)													---	---	---	---
F5	2153	broad.mit.edu	37	1	169541498	169541498	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169541498T>C	uc001ggg.1	-	3	479	c.334A>G	c.(334-336)ATC>GTC	p.I112V	F5_uc010plr.1_RNA	NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	112	F5/8 type A 1.|Plastocyanin-like 1.				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)													---	---	---	---
DNM3	26052	broad.mit.edu	37	1	172002361	172002361	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:172002361G>A	uc001gie.2	+	6	981	c.805G>A	c.(805-807)GCT>ACT	p.A269T	DNM3_uc001gid.3_Missense_Mutation_p.A269T|DNM3_uc009wwb.2_Missense_Mutation_p.A269T|DNM3_uc001gif.2_Missense_Mutation_p.A269T	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	dynamin 3 isoform a	269					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			breast(1)	1																		---	---	---	---
C1orf105	92346	broad.mit.edu	37	1	172431363	172431363	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:172431363T>G	uc001gik.2	+	5	515	c.319T>G	c.(319-321)TTT>GTT	p.F107V		NM_139240	NP_640333	O95561	CA105_HUMAN	hypothetical protein LOC92346	107										skin(1)	1																		---	---	---	---
NPHS2	7827	broad.mit.edu	37	1	179526176	179526176	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:179526176C>T	uc001gmq.3	-	5	809	c.724G>A	c.(724-726)GCC>ACC	p.A242T	NPHS2_uc009wxi.2_Intron	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	podocin	242	Cytoplasmic (Potential).				excretion	integral to plasma membrane	protein binding				0																		---	---	---	---
CEP350	9857	broad.mit.edu	37	1	179991976	179991976	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:179991976G>T	uc001gnt.2	+	13	3762	c.3379G>T	c.(3379-3381)GAA>TAA	p.E1127*	CEP350_uc009wxl.2_Nonsense_Mutation_p.E1126*|CEP350_uc001gnu.2_Nonsense_Mutation_p.E961*	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	1127	Ser-rich.					centrosome|nucleus|spindle				ovary(4)	4																		---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181701981	181701981	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:181701981G>A	uc001gow.2	+	20	2924	c.2759G>A	c.(2758-2760)CGC>CAC	p.R920H	CACNA1E_uc009wxs.2_Missense_Mutation_p.R808H|CACNA1E_uc001gox.1_Missense_Mutation_p.R146H|CACNA1E_uc009wxt.2_Missense_Mutation_p.R146H	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	920	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																		---	---	---	---
TPR	7175	broad.mit.edu	37	1	186302450	186302450	+	Silent	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186302450A>C	uc001grv.2	-	37	5556	c.5259T>G	c.(5257-5259)CCT>CCG	p.P1753P		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	1753					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								---	---	---	---
KCNT2	343450	broad.mit.edu	37	1	196254881	196254881	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:196254881C>A	uc001gtd.1	-	23	2663	c.2603G>T	c.(2602-2604)CGG>CTG	p.R868L	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.R794L|KCNT2_uc001gtf.1_Missense_Mutation_p.R844L|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.R844L|KCNT2_uc001gth.1_Missense_Mutation_p.R365L	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	868	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7																		---	---	---	---
F13B	2165	broad.mit.edu	37	1	197032103	197032103	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197032103C>T	uc001gtt.1	-	2	193	c.149G>A	c.(148-150)AGC>AAC	p.S50N		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	50	Sushi 1.				blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
DENND1B	163486	broad.mit.edu	37	1	197621390	197621390	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197621390G>A	uc001guf.3	-	7	760	c.422C>T	c.(421-423)GCA>GTA	p.A141V	DENND1B_uc010ppe.1_Missense_Mutation_p.A141V|DENND1B_uc010ppf.1_RNA|DENND1B_uc001gue.3_Missense_Mutation_p.A131V|DENND1B_uc001gug.3_5'UTR	NM_144977	NP_659414	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B isoform 2	141	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity				0																		---	---	---	---
PTPRC	5788	broad.mit.edu	37	1	198711490	198711490	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:198711490A>C	uc001gur.1	+	25	2865	c.2685A>C	c.(2683-2685)CAA>CAC	p.Q895H	PTPRC_uc001gus.1_Missense_Mutation_p.Q847H|PTPRC_uc001gut.1_Missense_Mutation_p.Q734H	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	895	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.	Substrate (By similarity).			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																		---	---	---	---
ELF3	1999	broad.mit.edu	37	1	201983058	201983058	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201983058T>A	uc001gxg.3	+	7	4099	c.907T>A	c.(907-909)TTC>ATC	p.F303I	ELF3_uc001gxi.3_Missense_Mutation_p.F303I|ELF3_uc001gxh.3_Missense_Mutation_p.F303I	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	303	ETS.				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																		---	---	---	---
KDM5B	10765	broad.mit.edu	37	1	202702738	202702738	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202702738G>A	uc001gyf.2	-	23	3816	c.3700C>T	c.(3700-3702)CCC>TCC	p.P1234S	KDM5B_uc009xag.2_Missense_Mutation_p.P1270S|KDM5B_uc001gyg.1_Missense_Mutation_p.P1076S	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	1234					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5																		---	---	---	---
ATP2B4	493	broad.mit.edu	37	1	203669950	203669950	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203669950G>A	uc001gzw.2	+	6	1684	c.800G>A	c.(799-801)GGC>GAC	p.G267D	ATP2B4_uc001gzv.2_Missense_Mutation_p.G267D|ATP2B4_uc009xaq.2_Missense_Mutation_p.G267D	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	267	Cytoplasmic (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)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)															---	---	---	---
MDM4	4194	broad.mit.edu	37	1	204506617	204506617	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204506617C>A	uc001hba.2	+	6	565	c.403C>A	c.(403-405)CAA>AAA	p.Q135K	MDM4_uc001hbd.1_RNA|MDM4_uc010pqw.1_Intron|MDM4_uc010pqx.1_Missense_Mutation_p.Q8K|MDM4_uc001hay.1_Missense_Mutation_p.Q135K|MDM4_uc001hbb.2_Missense_Mutation_p.Q8K|MDM4_uc010pqy.1_Intron|MDM4_uc001hbc.2_Intron|MDM4_uc009xbe.1_RNA	NM_002393	NP_002384	O15151	MDM4_HUMAN	mouse double minute 4 homolog	135					apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)					A		GBM|bladder|retinoblastoma								---	---	---	---
LRRN2	10446	broad.mit.edu	37	1	204588433	204588433	+	Missense_Mutation	SNP	C	T	T	rs139753603		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204588433C>T	uc001hbe.1	-	3	1076	c.688G>A	c.(688-690)GAC>AAC	p.D230N	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.D230N|LRRN2_uc009xbf.1_Missense_Mutation_p.D230N|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	230	LRR 7.|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)															---	---	---	---
SLC41A1	254428	broad.mit.edu	37	1	205764510	205764510	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205764510C>T	uc001hdh.1	-	9	2041	c.1169G>A	c.(1168-1170)CGC>CAC	p.R390H	SLC41A1_uc001hdg.1_Missense_Mutation_p.R11H	NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 member 1	390						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			skin(2)	2	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)															---	---	---	---
AVPR1B	553	broad.mit.edu	37	1	206225358	206225358	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:206225358G>A	uc001hds.2	+	1	1076	c.918G>A	c.(916-918)TGG>TGA	p.W306*		NM_000707	NP_000698	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	306	Extracellular (Potential).				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)													---	---	---	---
PFKFB2	5208	broad.mit.edu	37	1	207240864	207240864	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207240864T>C	uc001hfg.2	+	9	762	c.653T>C	c.(652-654)GTG>GCG	p.V218A	PFKFB2_uc010psc.1_Missense_Mutation_p.V120A|PFKFB2_uc001hfh.2_Missense_Mutation_p.V218A|PFKFB2_uc009xcc.2_Missense_Mutation_p.V176A|PFKFB2_uc010psd.1_Missense_Mutation_p.V32A	NM_006212	NP_006203	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,	218	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			ovary(1)	1	Prostate(682;0.19)																	---	---	---	---
ESRRG	2104	broad.mit.edu	37	1	216692774	216692774	+	Intron	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216692774A>G	uc001hkw.1	-						ESRRG_uc001hky.1_Intron|ESRRG_uc009xdp.1_Intron|ESRRG_uc001hkz.1_Intron|ESRRG_uc010puc.1_Intron|ESRRG_uc001hla.1_Intron|ESRRG_uc001hlb.1_Intron|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Intron|ESRRG_uc001hld.1_Intron|ESRRG_uc001hkx.1_Intron|ESRRG_uc009xdo.1_Intron|ESRRG_uc001hle.1_Intron	NM_001438	NP_001429			estrogen-related receptor gamma isoform 1						positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain 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)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)													---	---	---	---
C1orf58	148362	broad.mit.edu	37	1	222889118	222889118	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:222889118G>A	uc001hnq.1	+	2	472	c.77G>A	c.(76-78)GGC>GAC	p.G26D	AIDA_uc010pus.1_5'Flank|C1orf58_uc010put.1_Missense_Mutation_p.G26D|C1orf58_uc010puu.1_Missense_Mutation_p.G26D|C1orf58_uc010puv.1_Missense_Mutation_p.G26D	NM_144695	NP_653296	Q5VW32	BROX_HUMAN	Bro1-domain-containing protein	26						membrane					0				GBM - Glioblastoma multiforme(131;0.0667)														---	---	---	---
C1orf58	148362	broad.mit.edu	37	1	222898880	222898880	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:222898880A>G	uc001hnq.1	+	7	958	c.563A>G	c.(562-564)CAG>CGG	p.Q188R	C1orf58_uc010put.1_Missense_Mutation_p.Q156R|C1orf58_uc010puu.1_Missense_Mutation_p.Q188R|C1orf58_uc010puv.1_Missense_Mutation_p.Q156R	NM_144695	NP_653296	Q5VW32	BROX_HUMAN	Bro1-domain-containing protein	188	BRO1.					membrane					0				GBM - Glioblastoma multiforme(131;0.0667)														---	---	---	---
DISP1	84976	broad.mit.edu	37	1	223177973	223177973	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:223177973C>T	uc001hnu.1	+	8	3381	c.3234C>T	c.(3232-3234)CGC>CGT	p.R1078R		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	1078					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)														---	---	---	---
CNIH3	149111	broad.mit.edu	37	1	224922304	224922304	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:224922304C>T	uc001hos.1	+	5	1049	c.351C>T	c.(349-351)TAC>TAT	p.Y117Y		NM_152495	NP_689708	Q8TBE1	CNIH3_HUMAN	cornichon homolog 3	117	Cytoplasmic (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)														---	---	---	---
GJC2	57165	broad.mit.edu	37	1	228345675	228345675	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228345675G>A	uc001hsk.2	+	2	391	c.216G>A	c.(214-216)GCG>GCA	p.A72A		NM_020435	NP_065168	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	72	Extracellular (Potential).				cell death	connexon complex|integral to membrane					0		Prostate(94;0.0405)																---	---	---	---
C1orf131	128061	broad.mit.edu	37	1	231362818	231362818	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:231362818C>T	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)																---	---	---	---
PCNXL2	80003	broad.mit.edu	37	1	233397834	233397834	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:233397834G>A	uc001hvl.2	-	3	672	c.437C>T	c.(436-438)TCC>TTC	p.S146F	PCNXL2_uc009xfu.2_5'Flank|PCNXL2_uc009xfv.1_5'Flank	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	146						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)																---	---	---	---
TARBP1	6894	broad.mit.edu	37	1	234569180	234569180	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:234569180A>T	uc001hwd.2	-	14	2370	c.2370T>A	c.(2368-2370)CAT>CAA	p.H790Q		NM_005646	NP_005637	Q13395	TARB1_HUMAN	TAR RNA binding protein 1	790					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)|skin(1)	3	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)															---	---	---	---
LYST	1130	broad.mit.edu	37	1	235945395	235945395	+	Intron	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:235945395A>G	uc001hxj.2	-						LYST_uc009xgb.1_Intron|LYST_uc010pxs.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	236189263	236189263	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236189263G>A	uc001hxo.2	-	8	2019	c.1917C>T	c.(1915-1917)TTC>TTT	p.F639F	NID1_uc009xgd.2_Silent_p.F639F	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	639	Nidogen G2 beta-barrel.				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	236766615	236766615	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236766615C>T	uc001hyd.1	-	3	329	c.204G>A	c.(202-204)CCG>CCA	p.P68P	HEATR1_uc001hye.1_Silent_p.P68P	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	68					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)															---	---	---	---
EXO1	9156	broad.mit.edu	37	1	242035442	242035442	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:242035442T>C	uc001hzh.2	+	12	1916	c.1376T>C	c.(1375-1377)TTT>TCT	p.F459S	EXO1_uc001hzi.2_Missense_Mutation_p.F459S|EXO1_uc001hzj.2_Missense_Mutation_p.F459S|EXO1_uc009xgq.2_Missense_Mutation_p.F458S	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	459	Interaction with MLH1.				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					---	---	---	---
KIF26B	55083	broad.mit.edu	37	1	245850169	245850169	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:245850169G>A	uc001ibf.1	+	12	4324	c.3884G>A	c.(3883-3885)TGC>TAC	p.C1295Y	KIF26B_uc001ibg.1_Missense_Mutation_p.C913Y|KIF26B_uc001ibh.1_Missense_Mutation_p.C537Y	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1295					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)															---	---	---	---
OR2W5	441932	broad.mit.edu	37	1	247654805	247654805	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247654805G>A	uc001icz.1	+	1	376	c.376G>A	c.(376-378)GTC>ATC	p.V126I		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W,	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3	all_cancers(71;4.51e-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)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)															---	---	---	---
OR2L8	391190	broad.mit.edu	37	1	248112658	248112658	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248112658T>C	uc001idt.1	+	1	499	c.499T>C	c.(499-501)TAT>CAT	p.Y167H	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	167	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)															---	---	---	---
OR2M5	127059	broad.mit.edu	37	1	248309379	248309379	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248309379T>C	uc010pze.1	+	1	930	c.930T>C	c.(928-930)TGT>TGC	p.C310C		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	310	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	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;0.0388)															---	---	---	---
OR2T33	391195	broad.mit.edu	37	1	248436684	248436684	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248436684A>G	uc010pzi.1	-	1	433	c.433T>C	c.(433-435)TCG>CCG	p.S145P		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T,	145	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000124)|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;0.0245)															---	---	---	---
ALLC	55821	broad.mit.edu	37	2	3743890	3743890	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:3743890G>A	uc010ewt.2	+	9	854	c.693G>A	c.(691-693)GCG>GCA	p.A231A	ALLC_uc002qyf.2_Silent_p.A2A	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)			---	---	---	---
TAF1B	9014	broad.mit.edu	37	2	10022916	10022916	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:10022916A>G	uc002qzz.2	+	8	889	c.789A>G	c.(787-789)AGA>AGG	p.R263R	TAF1B_uc010exc.2_Silent_p.R263R|TAF1B_uc002qzy.3_Silent_p.R263R|TAF1B_uc010yja.1_Silent_p.R8R|TAF1B_uc010exd.2_Silent_p.R8R	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	TBP-associated factor 1B	263					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|breast(1)|pancreas(1)	3	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
ASXL2	55252	broad.mit.edu	37	2	25965810	25965810	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:25965810G>A	uc002rgs.2	-	12	3617	c.3396C>T	c.(3394-3396)GGC>GGT	p.G1132G	ASXL2_uc002rgt.1_Silent_p.G615G	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	1132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
GTF3C2	2976	broad.mit.edu	37	2	27551330	27551330	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27551330C>T	uc002rjv.1	-						MPV17_uc002rjt.2_5'Flank|GTF3C2_uc010eyy.1_Intron|GTF3C2_uc002rju.1_Intron|GTF3C2_uc002rjw.1_Intron	NM_001521	NP_001512			general transcription factor IIIC, polypeptide							transcription factor TFIIIC complex				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
PLB1	151056	broad.mit.edu	37	2	28741407	28741407	+	Intron	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:28741407A>G	uc002rmb.1	+						PLB1_uc010ezj.1_Intron	NM_153021	NP_694566			phospholipase B1 precursor						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)																	---	---	---	---
GALNT14	79623	broad.mit.edu	37	2	31360851	31360851	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:31360851C>T	uc002rnr.2	-	1	721	c.102G>A	c.(100-102)CCG>CCA	p.P34P	GALNT14_uc002rns.2_Silent_p.P34P|GALNT14_uc010ymr.1_5'UTR|GALNT14_uc010ezo.1_Silent_p.P34P|GALNT14_uc010ezp.1_Intron	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	N-acetylgalactosaminyltransferase 14	34	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(2)|skin(1)	3	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
TMEM178	130733	broad.mit.edu	37	2	39893185	39893185	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:39893185C>T	uc002rrt.2	+	1	96	c.71C>T	c.(70-72)ACG>ATG	p.T24M	TMEM178_uc010fam.1_Missense_Mutation_p.T24M	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN	transmembrane protein 178 precursor	24						integral to membrane					0		all_hematologic(82;0.248)																---	---	---	---
SLC8A1	6546	broad.mit.edu	37	2	40657279	40657279	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:40657279C>A	uc002rrx.2	-	1	166	c.142G>T	c.(142-144)GAA>TAA	p.E48*	SLC8A1_uc002rry.2_Nonsense_Mutation_p.E48*|SLC8A1_uc002rrz.2_Nonsense_Mutation_p.E48*|SLC8A1_uc002rsa.2_Nonsense_Mutation_p.E48*|SLC8A1_uc002rsd.3_Nonsense_Mutation_p.E48*|SLC8A1_uc002rsb.1_Nonsense_Mutation_p.E48*|SLC8A1_uc010fan.1_Nonsense_Mutation_p.E48*|SLC8A1_uc002rsc.1_Nonsense_Mutation_p.E48*	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	48	Extracellular (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)													---	---	---	---
ABCG5	64240	broad.mit.edu	37	2	44051074	44051074	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44051074G>A	uc002rtn.2	-	9	1442	c.1302C>T	c.(1300-1302)GGC>GGT	p.G434G	ABCG5_uc002rtm.2_Silent_p.G39G|ABCG5_uc002rto.2_Silent_p.G263G|ABCG5_uc002rtp.2_Silent_p.G39G	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	ATP-binding cassette sub-family G member 5	434	Helical; Name=2; (Potential).|ABC transmembrane type-2.				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			ovary(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)																---	---	---	---
SIX2	10736	broad.mit.edu	37	2	45235980	45235980	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:45235980T>C	uc002ruo.2	-	1	563	c.270A>G	c.(268-270)GCA>GCG	p.A90A	SIX2_uc002rup.2_Silent_p.A90A	NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	90						nucleus	sequence-specific DNA binding transcription factor activity			pancreas(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)																---	---	---	---
EPAS1	2034	broad.mit.edu	37	2	46583304	46583304	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:46583304G>A	uc002ruv.2	+	3	720	c.232G>A	c.(232-234)GAG>AAG	p.E78K		NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	78					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)															---	---	---	---
FBXO11	80204	broad.mit.edu	37	2	48066832	48066832	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48066832T>C	uc010fbl.2	-	2	171	c.57A>G	c.(55-57)AGA>AGG	p.R19R	FBXO11_uc002rwe.2_Silent_p.R19R|FBXO11_uc002rwf.2_Silent_p.R19R|FBXO11_uc002rwg.1_Silent_p.R19R	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	103					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)															---	---	---	---
MTIF2	4528	broad.mit.edu	37	2	55490842	55490842	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:55490842C>T	uc002ryn.2	-	5	890	c.153G>A	c.(151-153)TGG>TGA	p.W51*	MTIF2_uc010yox.1_5'UTR|MTIF2_uc002ryo.2_Nonsense_Mutation_p.W51*|MTIF2_uc002ryp.1_RNA	NM_001005369	NP_001005369	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	51					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			ovary(1)	1																		---	---	---	---
BCL11A	53335	broad.mit.edu	37	2	60688703	60688703	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:60688703C>T	uc002sae.1	-	4	1572	c.1344G>A	c.(1342-1344)CCG>CCA	p.P448P	BCL11A_uc002sab.2_Silent_p.P448P|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Silent_p.P117P|BCL11A_uc010ypj.1_Silent_p.P414P|BCL11A_uc002sad.1_Silent_p.P296P|BCL11A_uc002saf.1_Silent_p.P414P	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	448					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)					T	IGH@	B-CLL								---	---	---	---
SPRED2	200734	broad.mit.edu	37	2	65571937	65571937	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:65571937G>A	uc002sdr.3	-	2	655	c.120C>T	c.(118-120)CGC>CGT	p.R40R	SPRED2_uc010fcw.2_Silent_p.R37R|SPRED2_uc010fcx.1_RNA	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	sprouty-related protein with EVH-1 domain 2	40	WH1.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			ovary(1)|lung(1)|central_nervous_system(1)	3																		---	---	---	---
AAK1	22848	broad.mit.edu	37	2	69748037	69748037	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69748037C>A	uc002sfp.2	-	11	1644	c.1139G>T	c.(1138-1140)GGA>GTA	p.G380V	AAK1_uc010fdk.2_Missense_Mutation_p.G380V|AAK1_uc010yqm.1_Missense_Mutation_p.G380V|SNORA36C_uc010fdl.2_5'Flank	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	380						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity				0																		---	---	---	---
MPHOSPH10	10199	broad.mit.edu	37	2	71365669	71365669	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:71365669C>T	uc002sht.1	+	5	1500	c.1148C>T	c.(1147-1149)CCG>CTG	p.P383L	MPHOSPH10_uc010feb.1_Missense_Mutation_p.P383L	NM_005791	NP_005782	O00566	MPP10_HUMAN	M-phase phosphoprotein 10	383					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			skin(2)|ovary(1)	3																		---	---	---	---
DQX1	165545	broad.mit.edu	37	2	74749707	74749707	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74749707C>A	uc010yrw.1	-	8	1660	c.1495G>T	c.(1495-1497)GCT>TCT	p.A499S	DQX1_uc002smc.2_Missense_Mutation_p.A60S	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	DEAQ box polypeptide 1 (RNA-dependent ATPase)	499						nucleus	ATP binding|helicase activity|nucleic acid binding			ovary(2)	2																		---	---	---	---
LRRTM4	80059	broad.mit.edu	37	2	77746748	77746748	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:77746748C>T	uc002snr.2	-	3	662	c.247G>A	c.(247-249)GGC>AGC	p.G83S	LRRTM4_uc002snq.2_Missense_Mutation_p.G83S|LRRTM4_uc002sns.2_Missense_Mutation_p.G83S|LRRTM4_uc002snt.2_Missense_Mutation_p.G84S	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	83	LRR 1.|Extracellular (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)														---	---	---	---
RETSAT	54884	broad.mit.edu	37	2	85581587	85581587	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:85581587G>T	uc002spd.2	-	1	235	c.44C>A	c.(43-45)GCC>GAC	p.A15D	ELMOD3_uc010fgg.2_5'Flank|ELMOD3_uc002spf.3_5'Flank|ELMOD3_uc002spg.3_5'Flank|ELMOD3_uc002sph.3_5'Flank|ELMOD3_uc010ysn.1_5'Flank|ELMOD3_uc010yso.1_5'Flank|ELMOD3_uc010ysp.1_5'Flank|RETSAT_uc010ysm.1_Missense_Mutation_p.A15D|RETSAT_uc010fgf.2_Missense_Mutation_p.A15D	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	all-trans-13,14-dihydroretinol saturase	15					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			ovary(2)	2					Vitamin A(DB00162)													---	---	---	---
ELMOD3	84173	broad.mit.edu	37	2	85604483	85604483	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:85604483A>G	uc002spf.3	+	12	1289	c.624A>G	c.(622-624)ACA>ACG	p.T208T	ELMOD3_uc010fgg.2_RNA|ELMOD3_uc002spg.3_Silent_p.T208T|ELMOD3_uc002sph.3_Silent_p.T208T|ELMOD3_uc010ysn.1_Silent_p.T208T|ELMOD3_uc010yso.1_RNA|ELMOD3_uc010ysp.1_RNA	NM_001135021	NP_001128493	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3 isoform b	208	ELMO.				phagocytosis	cytoskeleton				ovary(2)	2																		---	---	---	---
KDM3A	55818	broad.mit.edu	37	2	86712114	86712114	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:86712114G>A	uc002sri.3	+	20	3471	c.3144G>A	c.(3142-3144)TGG>TGA	p.W1048*	KDM3A_uc010ytj.1_Nonsense_Mutation_p.W1048*|KDM3A_uc010ytk.1_Nonsense_Mutation_p.W996*	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	1048					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5																		---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103130652	103130652	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:103130652G>T	uc002tbz.3	+	8	2120	c.1663G>T	c.(1663-1665)GCC>TCC	p.A555S		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	555	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																		---	---	---	---
CCDC138	165055	broad.mit.edu	37	2	109411080	109411080	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109411080G>T	uc002ten.1	+	5	539	c.479G>T	c.(478-480)AGC>ATC	p.S160I	CCDC138_uc002teo.1_Missense_Mutation_p.S160I|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR	NM_144978	NP_659415	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	160											0																		---	---	---	---
ACOXL	55289	broad.mit.edu	37	2	111562961	111562961	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:111562961G>A	uc002tgr.3	+	9	966	c.742G>A	c.(742-744)GGT>AGT	p.G248S	ACOXL_uc010fkc.2_Missense_Mutation_p.G248S|ACOXL_uc010yxk.1_Missense_Mutation_p.G248S	NM_001105516	NP_001098986	Q9NUZ1	ACOXL_HUMAN	acyl-Coenzyme A oxidase-like 2	248					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity				0																		---	---	---	---
ANAPC1	64682	broad.mit.edu	37	2	112614259	112614259	+	Intron	SNP	A	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:112614259A>T	uc002thi.2	-							NM_022662	NP_073153			anaphase promoting complex subunit 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|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|cytosol|nucleoplasm				skin(2)	2																		---	---	---	---
ZC3H6	376940	broad.mit.edu	37	2	113069467	113069467	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113069467A>C	uc002thq.1	+	5	1094	c.700A>C	c.(700-702)ACC>CCC	p.T234P		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	234							nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4																		---	---	---	---
INHBB	3625	broad.mit.edu	37	2	121106806	121106806	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:121106806C>T	uc002tmn.2	+	2	626	c.580C>T	c.(580-582)CGG>TGG	p.R194W		NM_002193	NP_002184	P09529	INHBB_HUMAN	inhibin beta B subunit preproprotein	194					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	121746625	121746625	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:121746625C>T	uc010flp.2	+	13	3165	c.3135C>T	c.(3133-3135)GAC>GAT	p.D1045D	GLI2_uc002tmq.1_Silent_p.D717D|GLI2_uc002tmr.1_Silent_p.D700D|GLI2_uc002tmt.3_Silent_p.D717D|GLI2_uc002tmu.3_Silent_p.D700D	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	1045					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)																---	---	---	---
HS6ST1	9394	broad.mit.edu	37	2	129025949	129025949	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:129025949G>A	uc002tpt.3	-	2	1057	c.1023C>T	c.(1021-1023)AAC>AAT	p.N341N		NM_004807	NP_004798	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	341	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			pancreas(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)														---	---	---	---
ARHGEF4	50649	broad.mit.edu	37	2	131688588	131688588	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:131688588T>C	uc002tsa.1	+	3	578	c.58T>C	c.(58-60)TTC>CTC	p.F20L	ARHGEF4_uc010fmw.1_Missense_Mutation_p.F666L|ARHGEF4_uc002tsb.1_Missense_Mutation_p.F20L|ARHGEF4_uc010fmx.1_Missense_Mutation_p.F20L|ARHGEF4_uc002trz.1_Missense_Mutation_p.F666L	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor 4 isoform	20					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)														---	---	---	---
ACMSD	130013	broad.mit.edu	37	2	135628620	135628620	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:135628620C>T	uc002ttz.2	+	7	733	c.666C>T	c.(664-666)TTC>TTT	p.F222F	ACMSD_uc002tua.2_Silent_p.F164F|uc010zbe.1_Intron	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	222					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.115)														---	---	---	---
ACMSD	130013	broad.mit.edu	37	2	135630090	135630090	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:135630090G>A	uc002ttz.2	+	8	795	c.728G>A	c.(727-729)CGC>CAC	p.R243H	ACMSD_uc002tua.2_Missense_Mutation_p.R185H|uc010zbe.1_Intron	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	243					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.115)														---	---	---	---
RAB3GAP1	22930	broad.mit.edu	37	2	135848570	135848570	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:135848570T>C	uc002tuj.2	+	4	178	c.153T>C	c.(151-153)GGT>GGC	p.G51G	RAB3GAP1_uc010fnf.2_Silent_p.G51G|RAB3GAP1_uc010fng.2_5'UTR|RAB3GAP1_uc010fnh.1_RNA	NM_012233	NP_036365	Q15042	RB3GP_HUMAN	RAB3 GTPase-activating protein	51						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)														---	---	---	---
KYNU	8942	broad.mit.edu	37	2	143718341	143718341	+	Splice_Site	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:143718341T>C	uc002tvl.2	+	8	859	c.729_splice	c.e8+2	p.K243_splice	KYNU_uc002tvk.2_Splice_Site_p.K243_splice|KYNU_uc010fnm.2_Splice_Site_p.K243_splice	NM_003937	NP_003928			kynureninase (L-kynurenine hydrolase) isoform a						anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			skin(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)													---	---	---	---
NEB	4703	broad.mit.edu	37	2	152374867	152374867	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152374867G>T	uc010fnx.2	-	128	17853	c.17662C>A	c.(17662-17664)CTT>ATT	p.L5888I	NEB_uc002txr.2_Missense_Mutation_p.L2311I|NEB_uc002txt.3_Missense_Mutation_p.L393I	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	5888	Nebulin 161.				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	152427010	152427010	+	Splice_Site	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152427010C>T	uc010fnx.2	-	80	12206	c.12015_splice	c.e80+1	p.D4005_splice	NEB_uc002txr.2_Splice_Site_p.D428_splice	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)														---	---	---	---
RPRM	56475	broad.mit.edu	37	2	154334943	154334943	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:154334943G>A	uc002tyq.1	-	1	380	c.137C>T	c.(136-138)CCG>CTG	p.P46L		NM_019845	NP_062819	Q9NS64	RPRM_HUMAN	reprimo, TP53 dependant G2 arrest mediator	46					cell cycle arrest	cytoplasm|integral to membrane	protein binding				0																		---	---	---	---
KCNJ3	3760	broad.mit.edu	37	2	155555820	155555820	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:155555820G>A	uc002tyv.1	+	1	728	c.533G>A	c.(532-534)GGC>GAC	p.G178D	KCNJ3_uc010zce.1_Missense_Mutation_p.G178D	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	178	Helical; Name=M2; (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)													---	---	---	---
ITGB6	3694	broad.mit.edu	37	2	161029225	161029225	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:161029225C>T	uc002ubh.2	-	6	792	c.776G>A	c.(775-777)CGG>CAG	p.R259Q	ITGB6_uc010fow.1_RNA|ITGB6_uc010fou.2_Missense_Mutation_p.R259Q|ITGB6_uc010zcq.1_Missense_Mutation_p.R217Q|ITGB6_uc010fov.1_Missense_Mutation_p.R259Q	NM_000888	NP_000879	P18564	ITB6_HUMAN	integrin, beta 6 precursor	259	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																		---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166243339	166243339	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166243339G>T	uc002udc.2	+	26	4925	c.4635G>T	c.(4633-4635)ATG>ATT	p.M1545I	SCN2A_uc002udd.2_Missense_Mutation_p.M1545I|SCN2A_uc002ude.2_Missense_Mutation_p.M1545I	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1545	IV.|Helical; Name=S1 of repeat IV; (Potential).				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)													---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166901547	166901547	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166901547C>T	uc010zcz.1	-						SCN1A_uc002udo.3_Intron|SCN1A_uc010fpk.2_Intron	NM_006920	NP_008851			sodium channel, voltage-gated, type I, alpha							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)													---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168114854	168114854	+	3'UTR	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:168114854T>C	uc002udx.2	+	10					XIRP2_uc010fpn.2_Silent_p.L633L|XIRP2_uc010fpo.2_Silent_p.L600L|XIRP2_uc010fpp.2_Silent_p.L600L|XIRP2_uc010fpq.2_3'UTR|XIRP2_uc010fpr.2_Silent_p.L378L	NM_152381	NP_689594			xin actin-binding repeat containing 2 isoform 1						actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14																		---	---	---	---
WIPF1	7456	broad.mit.edu	37	2	175436475	175436475	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:175436475C>T	uc002uiy.2	-	6	1390	c.1058G>A	c.(1057-1059)CGT>CAT	p.R353H	uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.R353H|WIPF1_uc010fqt.1_Missense_Mutation_p.R353H|WIPF1_uc002ujc.1_Missense_Mutation_p.R353H|WIPF1_uc002uiz.2_Missense_Mutation_p.R353H|WIPF1_uc002ujb.1_Missense_Mutation_p.R353H|WIPF1_uc010zep.1_Missense_Mutation_p.R353H	NM_003387	NP_003378	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	353	XRSGPXPPXP motif 1.|Pro-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			ovary(1)|skin(1)	2																		---	---	---	---
CHN1	1123	broad.mit.edu	37	2	175666460	175666460	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:175666460G>A	uc002uji.2	-	12	1713	c.1183C>T	c.(1183-1185)CGG>TGG	p.R395W	CHN1_uc010zeq.1_Missense_Mutation_p.R369W|CHN1_uc002ujj.2_Missense_Mutation_p.R170W|CHN1_uc002ujg.2_Missense_Mutation_p.R270W	NM_001822	NP_001813	P15882	CHIN_HUMAN	chimerin (chimaerin) 1 isoform a	395	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	p.R395Q(1)		ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.226)					T	TAF15	extraskeletal myxoid chondrosarcoma								---	---	---	---
CHN1	1123	broad.mit.edu	37	2	175677082	175677082	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:175677082G>A	uc002uji.2	-	9	1371	c.841C>T	c.(841-843)CGG>TGG	p.R281W	CHN1_uc010zeq.1_Missense_Mutation_p.R255W|CHN1_uc002ujj.2_Missense_Mutation_p.R56W|CHN1_uc002ujg.2_Missense_Mutation_p.R156W	NM_001822	NP_001813	P15882	CHIN_HUMAN	chimerin (chimaerin) 1 isoform a	281	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								---	---	---	---
HOXD1	3231	broad.mit.edu	37	2	177054043	177054043	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:177054043G>A	uc002ukv.3	+	1	737	c.514G>A	c.(514-516)GAC>AAC	p.D172N	HOXD1_uc010fqy.2_Missense_Mutation_p.D172N|HOXD1_uc010zez.1_Missense_Mutation_p.D172N	NM_024501	NP_078777	Q9GZZ0	HXD1_HUMAN	homeobox D1	172						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)														---	---	---	---
PLEKHA3	65977	broad.mit.edu	37	2	179350390	179350390	+	Silent	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179350390T>G	uc002umn.2	+	2	461	c.63T>G	c.(61-63)GTT>GTG	p.V21V		NM_019091	NP_061964	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A	21	PH.					cytoplasm|membrane				ovary(1)|kidney(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)															---	---	---	---
PLEKHA3	65977	broad.mit.edu	37	2	179365829	179365829	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179365829G>A	uc002umn.2	+	7	1099	c.701G>A	c.(700-702)CGA>CAA	p.R234Q		NM_019091	NP_061964	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A	234						cytoplasm|membrane				ovary(1)|kidney(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179479312	179479312	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179479312A>T	uc010zfg.1	-	210	41449	c.41225T>A	c.(41224-41226)GTC>GAC	p.V13742D	uc002ump.1_RNA|TTN_uc010zfh.1_Missense_Mutation_p.V7437D|TTN_uc010zfi.1_Missense_Mutation_p.V7370D|TTN_uc010zfj.1_Missense_Mutation_p.V7245D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14669							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	179501146	179501146	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179501146T>C	uc010zfg.1	-	174	33828	c.33604A>G	c.(33604-33606)ACG>GCG	p.T11202A	TTN_uc010zfh.1_Missense_Mutation_p.T4897A|TTN_uc010zfi.1_Missense_Mutation_p.T4830A|TTN_uc010zfj.1_Missense_Mutation_p.T4705A|TTN_uc010fre.1_Missense_Mutation_p.T1063A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12129							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	179594876	179594876	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179594876C>T	uc010zfg.1	-	59	14743	c.14519G>A	c.(14518-14520)TGC>TAC	p.C4840Y	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.C1501Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5767							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	179605699	179605699	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179605699T>G	uc010zfh.1	-	46	11972	c.11748A>C	c.(11746-11748)GAA>GAC	p.E3916D	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.E3849D|TTN_uc010zfj.1_Missense_Mutation_p.E3724D|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	3853							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	179641123	179641123	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179641123G>T	uc010zfg.1	-	28	5692	c.5468C>A	c.(5467-5469)GCT>GAT	p.A1823D	TTN_uc010zfh.1_Missense_Mutation_p.A1777D|TTN_uc010zfi.1_Missense_Mutation_p.A1777D|TTN_uc010zfj.1_Missense_Mutation_p.A1777D|TTN_uc002unb.2_Missense_Mutation_p.A1823D|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1823							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)															---	---	---	---
SESTD1	91404	broad.mit.edu	37	2	179981390	179981390	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179981390T>C	uc002uni.3	-						SESTD1_uc002unh.3_Missense_Mutation_p.K23E	NM_178123	NP_835224			SEC14 and spectrin domains 1						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)															---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185801192	185801192	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:185801192G>T	uc002uph.2	+	4	1663	c.1069G>T	c.(1069-1071)GGA>TGA	p.G357*		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	357						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11																		---	---	---	---
STAT1	6772	broad.mit.edu	37	2	191874714	191874714	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:191874714C>T	uc002usj.2	-	3	404	c.16G>A	c.(16-18)GAA>AAA	p.E6K	STAT1_uc010fse.1_Missense_Mutation_p.E6K|STAT1_uc002usk.2_Missense_Mutation_p.E6K|STAT1_uc002usl.2_Missense_Mutation_p.E8K|STAT1_uc010fsf.1_5'UTR	NM_007315	NP_009330	P42224	STAT1_HUMAN	signal transducer and activator of transcription	6					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)													---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196749503	196749503	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:196749503C>A	uc002utj.3	-	35	5670	c.5569G>T	c.(5569-5571)GTT>TTT	p.V1857F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1857					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12																		---	---	---	---
ANKRD44	91526	broad.mit.edu	37	2	197986170	197986170	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197986170G>A	uc002uuc.2	-	8	959	c.792C>T	c.(790-792)AAC>AAT	p.N264N	ANKRD44_uc002utz.3_Translation_Start_Site|ANKRD44_uc002uua.1_Silent_p.N239N|ANKRD44_uc002uub.2_Silent_p.N264N|ANKRD44_uc010zgw.1_Silent_p.N192N	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	264	ANK 8.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)															---	---	---	---
NIF3L1	60491	broad.mit.edu	37	2	201759977	201759977	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:201759977T>C	uc002uwm.2	+						NIF3L1_uc002uwl.2_Intron|NIF3L1_uc002uwn.2_Intron|NIF3L1_uc002uwo.2_Intron|NIF3L1_uc002uwp.2_Intron|NIF3L1_uc002uwq.2_Intron	NM_001136039	NP_001129511			NIF3 NGG1 interacting factor 3-like 1 isoform 1						positive regulation of transcription, DNA-dependent		transcription factor binding			skin(1)	1																		---	---	---	---
CASP8	841	broad.mit.edu	37	2	202136270	202136270	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:202136270A>C	uc002uxr.1	+	4	546	c.337A>C	c.(337-339)AGC>CGC	p.S113R	CASP8_uc010ftc.1_Missense_Mutation_p.S113R|CASP8_uc002uxo.1_Missense_Mutation_p.S113R|CASP8_uc002uxp.1_Missense_Mutation_p.S145R|CASP8_uc002uxq.1_Missense_Mutation_p.S113R|CASP8_uc002uxs.1_Missense_Mutation_p.S113R|CASP8_uc002uxt.1_Missense_Mutation_p.S172R|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Missense_Mutation_p.S10R|CASP8_uc002uxv.1_Missense_Mutation_p.S113R|CASP8_uc002uxw.1_Missense_Mutation_p.S113R|CASP8_uc002uxy.1_Missense_Mutation_p.S113R|CASP8_uc002uxx.1_Missense_Mutation_p.S113R|CASP8_uc010ftf.2_Missense_Mutation_p.S113R|CASP8_uc010fte.1_Missense_Mutation_p.S10R	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	113	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)			---	---	---	---
BMPR2	659	broad.mit.edu	37	2	203329571	203329571	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:203329571C>T	uc002uzf.3	+	2	1264	c.116C>T	c.(115-117)CCG>CTG	p.P39L	BMPR2_uc010ftr.2_Missense_Mutation_p.P39L|BMPR2_uc002uze.2_Missense_Mutation_p.P39L	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	39	Extracellular (Potential).				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9																		---	---	---	---
ABI2	10152	broad.mit.edu	37	2	204281623	204281623	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:204281623G>A	uc002vaa.2	+						ABI2_uc002uzz.2_Intron|ABI2_uc010zih.1_Intron|ABI2_uc010zii.1_Intron|ABI2_uc010zij.1_Intron|ABI2_uc002vab.2_Intron|ABI2_uc010zik.1_Intron|ABI2_uc010zil.1_Intron|ABI2_uc010zim.1_Intron|ABI2_uc002vac.2_Intron|ABI2_uc010zin.1_Intron	NM_005759	NP_005750			abl interactor 2						actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding				0																		---	---	---	---
RAPH1	65059	broad.mit.edu	37	2	204354393	204354393	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:204354393C>A	uc002vad.2	-	4	871	c.646G>T	c.(646-648)GCC>TCC	p.A216S	RAPH1_uc002vae.2_Missense_Mutation_p.A216S|RAPH1_uc002vaf.2_Missense_Mutation_p.A216S	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Ras association and pleckstrin homology domains	216					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																		---	---	---	---
ZDBF2	57683	broad.mit.edu	37	2	207172264	207172264	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207172264T>C	uc002vbp.2	+	5	3262	c.3012T>C	c.(3010-3012)TCT>TCC	p.S1004S		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1004							nucleic acid binding|zinc ion binding			ovary(3)	3																		---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	215884381	215884381	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:215884381G>A	uc002vew.2	-	12	1647	c.1427C>T	c.(1426-1428)GCG>GTG	p.A476V	ABCA12_uc002vev.2_Missense_Mutation_p.A158V|ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	476			A -> V (in a pancreatic ductal adenocarcinoma sample; somatic mutation).		cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.A476V(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)														---	---	---	---
BCS1L	617	broad.mit.edu	37	2	219527931	219527931	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219527931T>C	uc002vio.2	+	8	1500	c.1082T>C	c.(1081-1083)CTG>CCG	p.L361P	BCS1L_uc002vip.2_Missense_Mutation_p.L361P|BCS1L_uc002viq.2_Missense_Mutation_p.L361P|BCS1L_uc010fvu.2_Missense_Mutation_p.L361P|BCS1L_uc010fvv.2_Missense_Mutation_p.L361P|BCS1L_uc002vir.2_Missense_Mutation_p.L361P|BCS1L_uc002vis.2_Missense_Mutation_p.L361P	NM_004328	NP_004319	Q9Y276	BCS1_HUMAN	BCS1-like	361	Mitochondrial matrix (Potential).				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)														---	---	---	---
CDK5R2	8941	broad.mit.edu	37	2	219825256	219825256	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219825256C>T	uc002vjf.2	+	1	859	c.714C>T	c.(712-714)TTC>TTT	p.F238F		NM_003936	NP_003927	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2	238					regulation of cyclin-dependent protein kinase activity	cyclin-dependent protein kinase 5 holoenzyme complex	cyclin-dependent protein kinase 5 activator activity			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
ATG9A	79065	broad.mit.edu	37	2	220090126	220090126	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220090126C>T	uc002vke.1	-						ATG9A_uc002vkd.1_Intron|ATG9A_uc002vkf.1_Intron	NM_001077198	NP_001070666			APG9 autophagy 9-like 1						autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
CHPF	79586	broad.mit.edu	37	2	220404687	220404687	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220404687C>T	uc002vmc.3	-	4	1973	c.1746G>A	c.(1744-1746)GTG>GTA	p.V582V	CHPF_uc010zlh.1_Silent_p.V420V	NM_024536	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	582	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|protein binding				0		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)														---	---	---	---
KIAA1486	57624	broad.mit.edu	37	2	226446717	226446717	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:226446717C>T	uc002voe.2	+	4	759	c.584C>T	c.(583-585)CCG>CTG	p.P195L	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_5'UTR	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	195										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	227663080	227663080	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:227663080C>T	uc002voh.3	-	1	427	c.375G>A	c.(373-375)GCG>GCA	p.A125A		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	125	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)	---	---	---	---
COL4A4	1286	broad.mit.edu	37	2	227919390	227919390	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:227919390C>T	uc010zlt.1	-	31	3434	c.2780G>A	c.(2779-2781)GGA>GAA	p.G927E		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	927	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)														---	---	---	---
TRIP12	9320	broad.mit.edu	37	2	230650558	230650558	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:230650558C>T	uc002vpw.1	-	33	4893	c.4784G>A	c.(4783-4785)CGA>CAA	p.R1595Q	TRIP12_uc002vpx.1_Missense_Mutation_p.R1643Q|TRIP12_uc002vpy.1_Missense_Mutation_p.R1325Q	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1595					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)														---	---	---	---
SP110	3431	broad.mit.edu	37	2	231042289	231042289	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:231042289G>A	uc002vqh.3	-	14	1795	c.1555C>T	c.(1555-1557)CGT>TGT	p.R519C	SP110_uc002vqg.3_Missense_Mutation_p.R519C|SP110_uc002vqi.3_Missense_Mutation_p.R519C|SP110_uc010fxk.2_Missense_Mutation_p.R517C|SP110_uc010fxj.2_Missense_Mutation_p.R162C	NM_004509	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein isoform a	519	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	231134619	231134619	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:231134619A>G	uc002vql.2	+	14	1510	c.1395A>G	c.(1393-1395)CCA>CCG	p.P465P	SP140_uc010zma.1_RNA|SP140_uc002vqn.2_Silent_p.P351P|SP140_uc002vqm.2_Silent_p.P405P|SP140_uc010fxl.2_Silent_p.P438P	NM_007237	NP_009168	Q13342	LY10_HUMAN	SP140 nuclear body protein isoform 1	465					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)														---	---	---	---
CHRND	1144	broad.mit.edu	37	2	233398812	233398812	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233398812C>T	uc002vsw.2	+	10	1223	c.1219C>T	c.(1219-1221)CGG>TGG	p.R407W	CHRND_uc010zmg.1_Missense_Mutation_p.R392W|CHRND_uc010fyc.2_Missense_Mutation_p.R280W|CHRND_uc010zmh.1_Missense_Mutation_p.R213W	NM_000751	NP_000742	Q07001	ACHD_HUMAN	nicotinic acetylcholine receptor delta	407	Cytoplasmic (Potential).				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)|breast(1)|skin(1)	3		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;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)														---	---	---	---
GIGYF2	26058	broad.mit.edu	37	2	233684582	233684582	+	Nonsense_Mutation	SNP	C	T	T	rs13002284		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233684582C>T	uc002vti.3	+	23	2753	c.2416C>T	c.(2416-2418)CGA>TGA	p.R806*	GIGYF2_uc002vtg.2_Nonsense_Mutation_p.R800*|GIGYF2_uc002vtj.3_Nonsense_Mutation_p.R827*|GIGYF2_uc002vtk.3_Nonsense_Mutation_p.R806*|GIGYF2_uc002vth.3_Nonsense_Mutation_p.R800*|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Nonsense_Mutation_p.R637*|GIGYF2_uc002vtq.3_Nonsense_Mutation_p.R139*	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2 isoform b	806	Gln-rich.|Glu-rich.				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)														---	---	---	---
AGAP1	116987	broad.mit.edu	37	2	236403404	236403404	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:236403404C>A	uc002vvs.2	+	1	669	c.74C>A	c.(73-75)CCC>CAC	p.P25H	AGAP1_uc002vvt.2_Missense_Mutation_p.P25H	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	25					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																		---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238285718	238285718	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238285718C>T	uc002vwl.2	-	7	3052	c.2767G>A	c.(2767-2769)GCA>ACA	p.A923T	COL6A3_uc002vwo.2_Missense_Mutation_p.A717T|COL6A3_uc010znj.1_Missense_Mutation_p.A316T|COL6A3_uc002vwq.2_Missense_Mutation_p.A717T|COL6A3_uc002vwr.2_Missense_Mutation_p.A516T|COL6A3_uc010znk.1_Missense_Mutation_p.A723T	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	923	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	238287277	238287277	+	Splice_Site	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238287277A>G	uc002vwl.2	-	6	2782	c.2497_splice	c.e6+1	p.E833_splice	COL6A3_uc002vwo.2_Splice_Site_p.E627_splice|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Splice_Site_p.E627_splice|COL6A3_uc002vwr.2_Splice_Site_p.E426_splice|COL6A3_uc010znk.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)														---	---	---	---
TRAF3IP1	26146	broad.mit.edu	37	2	239306240	239306240	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:239306240C>T	uc002vye.2	+	16	1949	c.1830C>T	c.(1828-1830)GAC>GAT	p.D610D	TRAF3IP1_uc002vyf.2_Silent_p.D544D	NM_015650	NP_056465	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting	610	Potential.|DISC1-interaction domain.					cytoplasm|cytoskeleton	protein binding			ovary(1)	1		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)														---	---	---	---
SNED1	25992	broad.mit.edu	37	2	241987861	241987861	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:241987861C>T	uc002wah.1	+							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)														---	---	---	---
PASK	23178	broad.mit.edu	37	2	242076594	242076594	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242076594C>T	uc002wao.1	-	7	1054	c.962G>A	c.(961-963)AGC>AAC	p.S321N	PASK_uc010zol.1_Missense_Mutation_p.S135N|PASK_uc010zom.1_Missense_Mutation_p.S286N|PASK_uc010fzl.1_Missense_Mutation_p.S321N|PASK_uc010zon.1_Missense_Mutation_p.S102N|PASK_uc002wap.2_5'Flank|PASK_uc002waq.2_Missense_Mutation_p.S321N	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	321					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|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;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)														---	---	---	---
ANO7	50636	broad.mit.edu	37	2	242163549	242163549	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242163549C>T	uc002wax.2	+	25	2886	c.2783C>T	c.(2782-2784)GCC>GTC	p.A928V		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	928	Cytoplasmic (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3																		---	---	---	---
HDLBP	3069	broad.mit.edu	37	2	242170236	242170236	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242170236C>T	uc002waz.2	-	25	3640	c.3412G>A	c.(3412-3414)GTT>ATT	p.V1138I	HDLBP_uc002wba.2_Missense_Mutation_p.V1138I|HDLBP_uc002wbb.2_Missense_Mutation_p.V1090I	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1138	KH 14.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)														---	---	---	---
FARP2	9855	broad.mit.edu	37	2	242432348	242432348	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242432348A>G	uc002wbi.1	+	25	2909	c.2792A>G	c.(2791-2793)CAG>CGG	p.Q931R		NM_014808	NP_055623	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	931	PH 2.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)														---	---	---	---
C2orf85	285093	broad.mit.edu	37	2	242815428	242815428	+	3'UTR	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242815428G>A	uc010fzu.1	+	2						NM_173821	NP_776182			hypothetical protein LOC285093							integral to membrane				ovary(1)	1																		---	---	---	---
ITPR1	3708	broad.mit.edu	37	3	4709083	4709083	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:4709083G>T	uc003bqa.2	+	18	2084	c.1736G>T	c.(1735-1737)GGC>GTC	p.G579V	ITPR1_uc010hca.1_Missense_Mutation_p.G564V|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.G564V	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	579	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)														---	---	---	---
LMCD1	29995	broad.mit.edu	37	3	8590329	8590329	+	Missense_Mutation	SNP	C	T	T	rs145385804	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:8590329C>T	uc003bqq.2	+	4	577	c.463C>T	c.(463-465)CGC>TGC	p.R155C	LMCD1_uc011atd.1_Missense_Mutation_p.R82C|LMCD1_uc011ate.1_Missense_Mutation_p.R43C|LMCD1_uc011atf.1_Missense_Mutation_p.R82C	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	155	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)														---	---	---	---
BRPF1	7862	broad.mit.edu	37	3	9776020	9776020	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9776020C>T	uc003bse.2	+	2	595	c.196C>T	c.(196-198)CGC>TGC	p.R66C	BRPF1_uc003bsf.2_Missense_Mutation_p.R66C|BRPF1_uc003bsg.2_Missense_Mutation_p.R66C|BRPF1_uc011ati.1_Missense_Mutation_p.R66C	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	66	Interaction with MYST3 and MYST4.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)																	---	---	---	---
BRPF1	7862	broad.mit.edu	37	3	9776143	9776143	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9776143G>A	uc003bse.2	+	2	718	c.319G>A	c.(319-321)GTC>ATC	p.V107I	BRPF1_uc003bsf.2_Missense_Mutation_p.V107I|BRPF1_uc003bsg.2_Missense_Mutation_p.V107I|BRPF1_uc011ati.1_Missense_Mutation_p.V107I	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	107	Interaction with MYST3 and MYST4.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)																	---	---	---	---
PPARG	5468	broad.mit.edu	37	3	12458573	12458573	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:12458573A>G	uc003bwx.2	+	6	1281	c.1190A>G	c.(1189-1191)GAG>GGG	p.E397G	PPARG_uc003bwr.2_Missense_Mutation_p.E369G|PPARG_uc003bws.2_Missense_Mutation_p.E369G|PPARG_uc003bwu.2_Missense_Mutation_p.E369G|PPARG_uc003bwv.2_Intron|PPARG_uc010hea.1_RNA	NM_015869	NP_056953	P37231	PPARG_HUMAN	peroxisome proliferative activated receptor	397	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|kidney(1)	2					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)			T	PAX8	follicular thyroid		Insulin resistance ; lipodystrophy|familial partial L;diabetes mellitus|insulin-resistantI|with acanthosis nigricans and hypertension						---	---	---	---
NR2C2	7182	broad.mit.edu	37	3	15045441	15045441	+	Missense_Mutation	SNP	G	A	A	rs146761800		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:15045441G>A	uc003bzj.3	+	2	237	c.20G>A	c.(19-21)CGC>CAC	p.R7H	NR2C2_uc003bzi.2_Missense_Mutation_p.R7H	NM_003298	NP_003289	P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	7					cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding				0																		---	---	---	---
ANKRD28	23243	broad.mit.edu	37	3	15755084	15755084	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:15755084G>A	uc003caj.1	-	10	1193	c.1050C>T	c.(1048-1050)GGC>GGT	p.G350G	ANKRD28_uc003cai.1_Silent_p.G196G|ANKRD28_uc011avz.1_Silent_p.G196G|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Silent_p.G380G|ANKRD28_uc003cam.2_Silent_p.G383G	NM_015199	NP_056014	O15084	ANR28_HUMAN	ankyrin repeat domain 28	350	ANK 10.					nucleoplasm	protein binding			breast(1)	1																		---	---	---	---
PLCD1	5333	broad.mit.edu	37	3	38052911	38052911	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38052911G>T	uc003chn.2	-	5	708	c.584C>A	c.(583-585)TCC>TAC	p.S195Y	PLCD1_uc003chm.2_Missense_Mutation_p.S216Y	NM_006225	NP_006216	P51178	PLCD1_HUMAN	phospholipase C, delta 1 isoform 2	195	2 (Potential).|EF-hand 2.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)														---	---	---	---
XYLB	9942	broad.mit.edu	37	3	38404473	38404473	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38404473T>A	uc003cic.2	+	4	365	c.256T>A	c.(256-258)TTC>ATC	p.F86I	XYLB_uc011ayp.1_Intron|XYLB_uc003cid.1_Missense_Mutation_p.F8I	NM_005108	NP_005099	O75191	XYLB_HUMAN	xylulokinase	86					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)														---	---	---	---
TTC21A	199223	broad.mit.edu	37	3	39174572	39174572	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39174572G>A	uc003cjc.2	+	20	2790	c.2613G>A	c.(2611-2613)AAG>AAA	p.K871K	TTC21A_uc003cje.2_Silent_p.K872K|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Silent_p.K823K|TTC21A_uc011ayy.1_5'UTR|TTC21A_uc003cjf.2_5'UTR	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 2	871							binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)														---	---	---	---
MOBP	4336	broad.mit.edu	37	3	39543775	39543775	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39543775C>T	uc010hht.2	+						MOBP_uc003cju.2_Intron|MOBP_uc003cjv.2_Intron|MOBP_uc003cjw.2_Intron|MOBP_uc003cjx.2_Intron|MOBP_uc003cjy.2_Intron	NM_182935	NP_891980			myelin-associated oligodendrocyte basic protein						nervous system development	nucleolus|perinuclear region of cytoplasm|soluble fraction				ovary(1)|central_nervous_system(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.082)|Kidney(284;0.0998)														---	---	---	---
TRAK1	22906	broad.mit.edu	37	3	42264629	42264629	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42264629C>T	uc003cky.2	+	16	2478	c.2262C>T	c.(2260-2262)TAC>TAT	p.Y754Y	TRAK1_uc011azi.1_Silent_p.Y733Y	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	754					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																		---	---	---	---
ZBTB47	92999	broad.mit.edu	37	3	42701286	42701286	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42701286T>A	uc003clu.1	+	1	413	c.311T>A	c.(310-312)CTG>CAG	p.L104Q		NM_145166	NP_660149	Q9UFB7	ZBT47_HUMAN	zinc finger protein 651	104	C2H2-type 2; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.216)														---	---	---	---
CCDC13	152206	broad.mit.edu	37	3	42777197	42777197	+	Splice_Site	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42777197A>G	uc003cly.3	-	10	1455	c.1371_splice	c.e10+1	p.H457_splice		NM_144719	NP_653320			coiled-coil domain containing 13											ovary(1)	1																		---	---	---	---
ZNF167	55888	broad.mit.edu	37	3	44598765	44598765	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:44598765C>T	uc010hin.2	+	2	614	c.226C>T	c.(226-228)CGG>TGG	p.R76W	ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Missense_Mutation_p.R76W|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Missense_Mutation_p.R76W|ZNF167_uc003cnk.2_Missense_Mutation_p.R76W	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	zinc finger protein 167 isoform 1	76	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)														---	---	---	---
KIF15	56992	broad.mit.edu	37	3	44816853	44816853	+	Missense_Mutation	SNP	C	T	T	rs147576633		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:44816853C>T	uc003cnx.3	+	3	319	c.170C>T	c.(169-171)ACG>ATG	p.T57M	KIF15_uc010hiq.2_Translation_Start_Site	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	57	Kinesin-motor.				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)														---	---	---	---
FYCO1	79443	broad.mit.edu	37	3	46008021	46008021	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46008021G>A	uc003cpb.3	-	8	3011	c.2805C>T	c.(2803-2805)GAC>GAT	p.D935D	FYCO1_uc011bal.1_Silent_p.D935D	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	935	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)														---	---	---	---
PTPN23	25930	broad.mit.edu	37	3	47453286	47453286	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47453286G>A	uc003crf.1	+	21	3998	c.3902G>A	c.(3901-3903)CGC>CAC	p.R1301H	PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.R1171H|uc003cri.2_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	1301	Tyrosine-protein phosphatase.				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	47460866	47460866	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47460866C>T	uc003crh.1	-	13	2147	c.1892G>A	c.(1891-1893)CGC>CAC	p.R631H	SCAP_uc011baz.1_Missense_Mutation_p.R376H|SCAP_uc003crg.2_Missense_Mutation_p.R239H	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	631	Lumenal (By similarity).				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)														---	---	---	---
USP4	7375	broad.mit.edu	37	3	49321537	49321537	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49321537G>A	uc003cwq.2	-	19	2502	c.2423C>T	c.(2422-2424)GCC>GTC	p.A808V	USP4_uc003cwo.2_Missense_Mutation_p.A520V|USP4_uc003cwp.2_Missense_Mutation_p.A538V|USP4_uc003cwr.2_Missense_Mutation_p.A761V	NM_003363	NP_003354	Q13107	UBP4_HUMAN	ubiquitin specific protease 4 isoform a	808					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	49689135	49689135	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49689135C>T	uc003cxe.3	+	5	2260	c.2146C>T	c.(2146-2148)CCA>TCA	p.P716S		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	716					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)														---	---	---	---
UBA7	7318	broad.mit.edu	37	3	49850959	49850959	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49850959T>C	uc003cxr.2	-	2	349	c.178A>G	c.(178-180)ACT>GCT	p.T60A		NM_003335	NP_003326	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	60	2 approximate repeats.|1-1.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)														---	---	---	---
CAMKV	79012	broad.mit.edu	37	3	49898646	49898646	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49898646T>C	uc003cxt.1	-	6	722	c.529A>G	c.(529-531)ATC>GTC	p.I177V	CAMKV_uc011bcy.1_Missense_Mutation_p.I102V|CAMKV_uc003cxv.1_Missense_Mutation_p.I177V|CAMKV_uc003cxw.1_5'UTR|CAMKV_uc003cxx.1_5'UTR|CAMKV_uc003cxu.2_Missense_Mutation_p.I177V|CAMKV_uc011bcz.1_Missense_Mutation_p.I140V|CAMKV_uc011bda.1_Missense_Mutation_p.I134V|CAMKV_uc011bdb.1_RNA	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	177	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)														---	---	---	---
RBM6	10180	broad.mit.edu	37	3	50005642	50005642	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50005642C>T	uc003cyc.2	+	3	917	c.784C>T	c.(784-786)CGA>TGA	p.R262*	RBM6_uc011bdh.1_RNA|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	P78332	RBM6_HUMAN	RNA binding motif protein 6	262					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	51418626	51418626	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51418626G>A	uc011bds.1	+	53	5752	c.5729G>A	c.(5728-5730)CGC>CAC	p.R1910H		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1910						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)														---	---	---	---
TEX264	51368	broad.mit.edu	37	3	51708379	51708379	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51708379C>T	uc010hls.2	+	3	228	c.59C>T	c.(58-60)ACG>ATG	p.T20M	TEX264_uc003dbk.3_Missense_Mutation_p.T20M|TEX264_uc010hlt.2_Intron|TEX264_uc003dbl.3_Missense_Mutation_p.T20M|TEX264_uc003dbm.3_Missense_Mutation_p.T59M	NM_001129884	NP_001123356	Q9Y6I9	TX264_HUMAN	testis expressed 264 precursor	20						extracellular region					0				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)														---	---	---	---
GRM2	2912	broad.mit.edu	37	3	51746637	51746637	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51746637G>A	uc010hlv.2	+	3	838	c.599G>A	c.(598-600)CGC>CAC	p.R200H	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	200	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)													---	---	---	---
GRM2	2912	broad.mit.edu	37	3	51746765	51746765	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51746765C>T	uc010hlv.2	+	3	966	c.727C>T	c.(727-729)CGT>TGT	p.R243C	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	243	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)													---	---	---	---
SFMBT1	51460	broad.mit.edu	37	3	52941085	52941085	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52941085C>A	uc003dgf.2	-	20	2900	c.2331G>T	c.(2329-2331)AAG>AAT	p.K777N	SFMBT1_uc010hmr.2_Missense_Mutation_p.K724N|SFMBT1_uc003dgg.2_Missense_Mutation_p.K777N|SFMBT1_uc003dgh.2_Missense_Mutation_p.K777N	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	777					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)														---	---	---	---
SLMAP	7871	broad.mit.edu	37	3	57913112	57913112	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:57913112A>G	uc003dje.1	+	22	2689	c.2484A>G	c.(2482-2484)CCA>CCG	p.P828P	SLMAP_uc003djd.1_Silent_p.P811P|SLMAP_uc003djf.1_Silent_p.P790P|SLMAP_uc003djg.1_3'UTR|SLMAP_uc011bez.1_Silent_p.P296P|SLMAP_uc011bfa.1_Silent_p.P362P|SLMAP_uc003dji.1_3'UTR|SLMAP_uc011bfb.1_Silent_p.P362P|SLMAP_uc011bfc.1_3'UTR	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	828	Extracellular (Potential).				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding				0				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)														---	---	---	---
FRMD4B	23150	broad.mit.edu	37	3	69246143	69246143	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:69246143G>A	uc003dnv.2	-	13	1290	c.1000C>T	c.(1000-1002)CAA>TAA	p.Q334*	FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnu.2_5'UTR|FRMD4B_uc011bga.1_Nonsense_Mutation_p.Q178*	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	334	FERM.					cytoplasm|cytoskeleton	binding			ovary(3)|central_nervous_system(1)	4		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)														---	---	---	---
PDZRN3	23024	broad.mit.edu	37	3	73433872	73433872	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:73433872G>A	uc003dpl.1	-	10	1941	c.1845C>T	c.(1843-1845)AGC>AGT	p.S615S	PDZRN3_uc011bgh.1_Silent_p.S272S|PDZRN3_uc010hoe.1_Silent_p.S313S|PDZRN3_uc011bgf.1_Silent_p.S332S|PDZRN3_uc011bgg.1_Silent_p.S335S	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	615							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)														---	---	---	---
IMPG2	50939	broad.mit.edu	37	3	100986374	100986374	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100986374A>G	uc003duq.1	-	9	1092	c.889T>C	c.(889-891)TCC>CCC	p.S297P	IMPG2_uc011bhe.1_Missense_Mutation_p.S160P	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	297	Extracellular (Potential).|SEA 1.				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																		---	---	---	---
DPPA2	151871	broad.mit.edu	37	3	109027089	109027089	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:109027089G>A	uc003dxo.2	-	6	695	c.448C>T	c.(448-450)CGC>TGC	p.R150C		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	150						nucleus	nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)	3																		---	---	---	---
PHLDB2	90102	broad.mit.edu	37	3	111564664	111564664	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:111564664G>A	uc003dyc.2	+						PLCXD2_uc003dya.2_Intron|PLCXD2_uc003dxz.2_Intron	NM_001134437	NP_001127909			pleckstrin homology-like domain, family B,							cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6																		---	---	---	---
DRD3	1814	broad.mit.edu	37	3	113850211	113850211	+	Missense_Mutation	SNP	G	A	A	rs149736958	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113850211G>A	uc003ebd.2	-	7	1183	c.760C>T	c.(760-762)CGT>TGT	p.R254C	DRD3_uc010hqn.1_Missense_Mutation_p.R254C|DRD3_uc003ebb.1_Missense_Mutation_p.R254C|DRD3_uc003ebc.1_Missense_Mutation_p.R254C	NM_000796	NP_000787	P35462	DRD3_HUMAN	dopamine receptor D3 isoform a	254	Cytoplasmic.				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.R254H(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)													---	---	---	---
NR1I2	8856	broad.mit.edu	37	3	119534274	119534274	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:119534274C>A	uc003edj.2	+	7	2881	c.1042C>A	c.(1042-1044)CTC>ATC	p.L348I	NR1I2_uc003edi.2_Missense_Mutation_p.L311I|NR1I2_uc003edk.2_Missense_Mutation_p.L387I|NR1I2_uc003edl.2_Missense_Mutation_p.L236I	NM_003889	NP_003880	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	348	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)													---	---	---	---
PARP9	83666	broad.mit.edu	37	3	122274498	122274498	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122274498A>G	uc010hri.2	-	4	770	c.625T>C	c.(625-627)TGT>CGT	p.C209R	PARP9_uc003eff.3_Missense_Mutation_p.C174R|PARP9_uc011bjs.1_Missense_Mutation_p.C174R|PARP9_uc003efg.2_Intron|PARP9_uc003efi.2_Missense_Mutation_p.C174R|PARP9_uc003efh.2_Missense_Mutation_p.C209R|PARP9_uc003efj.2_Missense_Mutation_p.C174R	NM_001146102	NP_001139574	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	209	Macro 1.				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)														---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124431994	124431994	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124431994C>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																		---	---	---	---
MCM2	4171	broad.mit.edu	37	3	127335932	127335932	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:127335932G>T	uc003ejp.2	+	10	1801	c.1744G>T	c.(1744-1746)GGA>TGA	p.G582*	MCM2_uc011bkm.1_Nonsense_Mutation_p.G452*|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Nonsense_Mutation_p.G535*	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	582	MCM.				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																		---	---	---	---
IFT122	55764	broad.mit.edu	37	3	129221612	129221612	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129221612G>A	uc003emm.2	+	20	2640	c.2434G>A	c.(2434-2436)GCT>ACT	p.A812T	IFT122_uc003eml.2_Missense_Mutation_p.A863T|IFT122_uc003emn.2_Missense_Mutation_p.A753T|IFT122_uc003emo.2_Missense_Mutation_p.A701T|IFT122_uc003emp.2_Missense_Mutation_p.A662T|IFT122_uc010htc.2_Missense_Mutation_p.A804T|IFT122_uc011bky.1_Missense_Mutation_p.A603T|IFT122_uc003emq.2_Missense_Mutation_p.A652T|IFT122_uc003emr.2_Missense_Mutation_p.A564T|IFT122_uc011bla.1_Missense_Mutation_p.A585T|IFT122_uc010hte.2_Missense_Mutation_p.A138T|IFT122_uc003ems.2_Missense_Mutation_p.A193T|IFT122_uc011bkx.1_Missense_Mutation_p.A652T|IFT122_uc010htd.1_Missense_Mutation_p.A291T	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	812					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																		---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130287372	130287372	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130287372T>C	uc010htl.2	+	5	2356	c.2325T>C	c.(2323-2325)GTT>GTC	p.V775V		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	775	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8																		---	---	---	---
ACAD11	84129	broad.mit.edu	37	3	132322160	132322160	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:132322160C>A	uc003eov.3	-	13	1914	c.1534G>T	c.(1534-1536)GCT>TCT	p.A512S	ACAD11_uc011blr.1_Missense_Mutation_p.A123S	NM_032169	NP_115545	Q709F0	ACD11_HUMAN	putative acyl-CoA dehydrogenase	512	FAD.|FAD.					peroxisome	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups			ovary(1)	1																		---	---	---	---
DZIP1L	199221	broad.mit.edu	37	3	137790602	137790602	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:137790602G>A	uc003erq.2	-	12	1861	c.1498C>T	c.(1498-1500)CGG>TGG	p.R500W	DZIP1L_uc003err.1_Missense_Mutation_p.R500W	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	500						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2																		---	---	---	---
ATR	545	broad.mit.edu	37	3	142277486	142277486	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:142277486C>T	uc003eux.3	-	8	1987	c.1865G>A	c.(1864-1866)TGT>TAT	p.C622Y		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	622					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					---	---	---	---
C3orf58	205428	broad.mit.edu	37	3	143708636	143708636	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:143708636A>G	uc003evo.2	+	3	1781	c.1246A>G	c.(1246-1248)AAA>GAA	p.K416E	C3orf58_uc011bnl.1_Missense_Mutation_p.K207E	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN	hypothetical protein LOC205428 isoform a	416						COPI vesicle coat|extracellular region				ovary(1)	1																		---	---	---	---
ZIC4	84107	broad.mit.edu	37	3	147114073	147114073	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:147114073C>A	uc003ewd.1	-	3	527	c.254G>T	c.(253-255)CGC>CTC	p.R85L	ZIC4_uc003ewc.1_Missense_Mutation_p.R15L|ZIC4_uc011bno.1_Missense_Mutation_p.R135L	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	85						nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2																		---	---	---	---
P2RY14	9934	broad.mit.edu	37	3	150931269	150931269	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:150931269A>G	uc003eyr.1	-	3	1314	c.836T>C	c.(835-837)TTC>TCC	p.F279S	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY14_uc003eys.1_Missense_Mutation_p.F279S	NM_001081455	NP_001074924	Q15391	P2Y14_HUMAN	P2Y14 receptor	279	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			large_intestine(2)|ovary(1)|lung(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
MBNL1	4154	broad.mit.edu	37	3	152165478	152165478	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:152165478G>A	uc003ezm.2	+	6	1720	c.931G>A	c.(931-933)GCA>ACA	p.A311T	MBNL1_uc003ezh.2_Missense_Mutation_p.A293T|MBNL1_uc003ezi.2_Missense_Mutation_p.A293T|MBNL1_uc003ezj.2_Missense_Mutation_p.A254T|MBNL1_uc003ezl.2_Missense_Mutation_p.A293T|MBNL1_uc003ezp.2_Intron|MBNL1_uc003ezn.2_Missense_Mutation_p.A225T|MBNL1_uc003ezo.2_Missense_Mutation_p.A225T|MBNL1_uc010hvp.2_Intron	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	muscleblind-like 1 isoform c	311					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)															---	---	---	---
DHX36	170506	broad.mit.edu	37	3	154006670	154006670	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:154006670T>C	uc003ezy.3	-	17	2097	c.2016A>G	c.(2014-2016)AGA>AGG	p.R672R	DHX36_uc010hvq.2_Silent_p.R658R|DHX36_uc003ezz.3_Silent_p.R672R	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	672						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)															---	---	---	---
BCHE	590	broad.mit.edu	37	3	165548072	165548072	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:165548072C>T	uc003fem.3	-	2	910	c.750G>A	c.(748-750)CTG>CTA	p.L250L	BCHE_uc003fen.3_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	250					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)													---	---	---	---
ZBBX	79740	broad.mit.edu	37	3	167083663	167083663	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:167083663T>C	uc003fep.2	-						ZBBX_uc011bpc.1_Intron|ZBBX_uc003feq.2_Intron	NM_024687	NP_078963			zinc finger, B-box domain containing							intracellular	zinc ion binding			ovary(2)	2																		---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178928348	178928348	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:178928348G>T	uc003fjk.2	+	9	1691	c.1534G>T	c.(1534-1536)GGA>TGA	p.G512*		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	512					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)			---	---	---	---
GNB4	59345	broad.mit.edu	37	3	179131207	179131207	+	Missense_Mutation	SNP	G	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179131207G>C	uc003fjv.3	-	8	972	c.692C>G	c.(691-693)GCT>GGT	p.A231G	GNB4_uc003fju.3_Missense_Mutation_p.A142G	NM_021629	NP_067642	Q9HAV0	GBB4_HUMAN	guanine nucleotide-binding protein, beta-4	231	WD 5.				cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			skin(2)	2	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)															---	---	---	---
YEATS2	55689	broad.mit.edu	37	3	183521825	183521825	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183521825G>A	uc003fly.2	+	27	3828	c.3633G>A	c.(3631-3633)AAG>AAA	p.K1211K	uc003fma.1_3'UTR	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1211					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)															---	---	---	---
HTR3C	170572	broad.mit.edu	37	3	183778041	183778041	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183778041G>T	uc003fmk.2	+	9	1279	c.1245G>T	c.(1243-1245)TGG>TGT	p.W415C		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine receptor 3 subunit C	415	Cytoplasmic (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)															---	---	---	---
CLCN2	1181	broad.mit.edu	37	3	184064539	184064539	+	Missense_Mutation	SNP	C	T	T	rs149460784		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184064539C>T	uc003foi.2	-	24	2676	c.2552G>A	c.(2551-2553)CGG>CAG	p.R851Q	CLCN2_uc003foh.2_Missense_Mutation_p.R340Q|CLCN2_uc010hya.1_Missense_Mutation_p.R834Q|CLCN2_uc011brl.1_Missense_Mutation_p.R822Q|CLCN2_uc011brm.1_Missense_Mutation_p.R807Q	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	851	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)													---	---	---	---
EPHB3	2049	broad.mit.edu	37	3	184290449	184290449	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184290449G>A	uc003foz.2	+	3	778	c.341G>A	c.(340-342)CGT>CAT	p.R114H		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	114	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)															---	---	---	---
LEPREL1	55214	broad.mit.edu	37	3	189689785	189689785	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:189689785T>C	uc011bsk.1	-	12	2099	c.1711A>G	c.(1711-1713)AGA>GGA	p.R571G	LEPREL1_uc003fsg.2_Missense_Mutation_p.R390G	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	leprecan-like 1 isoform a	571	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)													---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195515860	195515860	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:195515860G>A	uc011bto.1	-	2	3051	c.2591C>T	c.(2590-2592)GCG>GTG	p.A864V	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.A746V	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	869	Ser-rich.				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)														---	---	---	---
PCYT1A	5130	broad.mit.edu	37	3	195974240	195974240	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:195974240G>A	uc003fwg.2	-	6	657	c.484C>T	c.(484-486)CGG>TGG	p.R162W	PCYT1A_uc003fwh.2_Missense_Mutation_p.R162W	NM_005017	NP_005008	P49585	PCY1A_HUMAN	choline phosphate cytidylyltransferase 1 alpha	162	Catalytic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity				0	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-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;0.00259)	Choline(DB00122)													---	---	---	---
LRCH3	84859	broad.mit.edu	37	3	197593070	197593070	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:197593070T>G	uc011bul.1	+	17	1858	c.1853T>G	c.(1852-1854)GTC>GGC	p.V618G	LRCH3_uc003fyj.1_Missense_Mutation_p.V618G|LRCH3_uc011bum.1_Missense_Mutation_p.V566G|LRCH3_uc011bun.1_Missense_Mutation_p.V464G|LRCH3_uc003fyk.2_Missense_Mutation_p.V213G	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH)	618						extracellular region				ovary(1)	1	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)														---	---	---	---
CTBP1	1487	broad.mit.edu	37	4	1207290	1207290	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1207290G>A	uc003gcv.1	-	7	1162	c.997C>T	c.(997-999)CGG>TGG	p.R333W	uc003gcs.1_Intron|CTBP1_uc003gct.1_Missense_Mutation_p.R314W|CTBP1_uc003gcu.1_Missense_Mutation_p.R322W|CTBP1_uc003gcw.2_Missense_Mutation_p.R7W	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	C-terminal binding protein 1 isoform 1	333	Interaction with GLIS2 2 (By similarity).				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)														---	---	---	---
ZFYVE28	57732	broad.mit.edu	37	4	2306637	2306637	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:2306637C>A	uc003gex.1	-	8	1749	c.1430G>T	c.(1429-1431)AGC>ATC	p.S477I	ZFYVE28_uc011bvk.1_Missense_Mutation_p.S407I|ZFYVE28_uc011bvl.1_Missense_Mutation_p.S447I|ZFYVE28_uc003gew.1_Missense_Mutation_p.S363I	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	477					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																		---	---	---	---
EVC	2121	broad.mit.edu	37	4	5755505	5755505	+	Intron	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:5755505A>G	uc003gil.1	+						EVC_uc003gim.1_Intron|CRMP1_uc003gin.1_Intron	NM_153717	NP_714928			Ellis van Creveld syndrome protein						muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)																---	---	---	---
TBC1D14	57533	broad.mit.edu	37	4	6969156	6969156	+	Intron	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:6969156A>G	uc011bwg.1	+						TBC1D14_uc003gjs.3_Intron	NM_001113361	NP_001106832			TBC1 domain family, member 14 isoform a							intracellular	Rab GTPase activator activity			ovary(1)|pancreas(1)	2																		---	---	---	---
AFAP1	60312	broad.mit.edu	37	4	7802207	7802207	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:7802207G>A	uc003gkg.1	-	10	1501	c.1228C>T	c.(1228-1230)CGG>TGG	p.R410W	AFAP1_uc011bwk.1_Missense_Mutation_p.R410W	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	410	PH 2.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0																		---	---	---	---
ACOX3	8310	broad.mit.edu	37	4	8398700	8398700	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:8398700C>A	uc010idk.2	-	9	1165	c.1020G>T	c.(1018-1020)GAG>GAT	p.E340D	ACOX3_uc003glc.3_Missense_Mutation_p.E340D|ACOX3_uc003gld.3_Missense_Mutation_p.E340D|ACOX3_uc003gle.1_Missense_Mutation_p.E245D	NM_003501	NP_003492	O15254	ACOX3_HUMAN	acyl-Coenzyme A oxidase 3 isoform a	340	Poly-Glu.				bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			central_nervous_system(1)	1																		---	---	---	---
CPEB2	132864	broad.mit.edu	37	4	15063798	15063798	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:15063798C>T	uc003gni.1	+	10	1543	c.1456C>T	c.(1456-1458)CGA>TGA	p.R486*	CPEB2_uc003gnj.1_Nonsense_Mutation_p.R456*|CPEB2_uc003gnk.1_Nonsense_Mutation_p.R494*|CPEB2_uc003gnl.1_Nonsense_Mutation_p.R467*|CPEB2_uc003gnm.1_Nonsense_Mutation_p.R464*|CPEB2_uc003gnn.1_Nonsense_Mutation_p.R459*	NM_182485	NP_872291	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding	486	RRM 2.				regulation of translation	cytoplasm	nucleotide binding|RNA binding			skin(1)	1																		---	---	---	---
QDPR	5860	broad.mit.edu	37	4	17493907	17493907	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:17493907C>T	uc003gpd.2	-	5	673	c.493G>A	c.(493-495)GCT>ACT	p.A165T	QDPR_uc003gpe.2_Missense_Mutation_p.A134T|QDPR_uc003gpf.2_Intron	NM_000320	NP_000311	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	165					dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			ovary(1)	1					NADH(DB00157)													---	---	---	---
KLB	152831	broad.mit.edu	37	4	39409172	39409172	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39409172A>G	uc003gua.2	+	1	700	c.603A>G	c.(601-603)GCA>GCG	p.A201A	KLB_uc011byj.1_Silent_p.A201A	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	201	Extracellular (Potential).|Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1																		---	---	---	---
RPL9	6133	broad.mit.edu	37	4	39458044	39458044	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39458044T>C	uc003gub.2	-	4	521	c.373A>G	c.(373-375)AGG>GGG	p.R125G	RPL9_uc003guc.2_Missense_Mutation_p.R125G|RPL9_uc011byk.1_RNA|RPL9_uc011byl.1_Missense_Mutation_p.R125G|LIAS_uc003gue.3_5'Flank|LIAS_uc011bym.1_5'Flank|LIAS_uc003guf.2_5'Flank|LIAS_uc003gug.2_5'Flank|LIAS_uc003guh.2_5'Flank	NM_001024921	NP_001020092	P32969	RL9_HUMAN	ribosomal protein L9	125					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|nucleolus|ribosome	rRNA binding|structural constituent of ribosome			skin(1)	1																		---	---	---	---
APBB2	323	broad.mit.edu	37	4	41016422	41016422	+	Intron	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:41016422A>G	uc003gvl.2	-						APBB2_uc003gvm.2_Intron|APBB2_uc003gvn.2_Intron|APBB2_uc011byt.1_5'Flank	NM_173075	NP_775098			amyloid beta A4 precursor protein-binding,						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																		---	---	---	---
KCTD8	386617	broad.mit.edu	37	4	44450159	44450159	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:44450159C>A	uc003gwu.2	-	1	666	c.382G>T	c.(382-384)GAG>TAG	p.E128*		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	128						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	44683221	44683221	+	Splice_Site	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:44683221G>A	uc003gww.3	+	4	714	c.507_splice	c.e4+1	p.E169_splice	GUF1_uc010ifz.1_Splice_Site	NM_021927	NP_068746			GUF1 GTPase homolog						translation	mitochondrial inner membrane	GTP binding|GTPase activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
CORIN	10699	broad.mit.edu	37	4	47682178	47682178	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47682178T>G	uc003gxm.2	-	8	1205	c.1112A>C	c.(1111-1113)AAG>ACG	p.K371T	CORIN_uc011bzf.1_Missense_Mutation_p.K232T|CORIN_uc011bzg.1_Missense_Mutation_p.K304T|CORIN_uc011bzh.1_Intron|CORIN_uc011bzi.1_Intron|CORIN_uc003gxn.3_3'UTR	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	371	Extracellular (Potential).|LDL-receptor class A 3.				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																		---	---	---	---
UBA6	55236	broad.mit.edu	37	4	68536191	68536191	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68536191C>T	uc003hdg.3	-	8	718	c.666G>A	c.(664-666)ACG>ACA	p.T222T	UBA6_uc003hdi.2_Silent_p.T222T|UBA6_uc003hdj.2_Silent_p.T222T	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	ubiquitin-activating enzyme E1-like 2	222					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding				0																		---	---	---	---
MUC7	4589	broad.mit.edu	37	4	71346631	71346631	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71346631C>T	uc011cat.1	+	4	458	c.170C>T	c.(169-171)CCG>CTG	p.P57L	MUC7_uc011cau.1_Missense_Mutation_p.P57L|MUC7_uc003hfj.2_Missense_Mutation_p.P57L|uc011cav.1_RNA	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	mucin 7, secreted precursor	57						extracellular region	protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4			Lung(101;0.211)															---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79400796	79400796	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:79400796G>T	uc003hlb.2	+	56	8807	c.8367G>T	c.(8365-8367)AAG>AAT	p.K2789N		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2784	Calx-beta 3.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5																		---	---	---	---
FAM175A	84142	broad.mit.edu	37	4	84391425	84391425	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:84391425G>A	uc003hou.2	-	5	472	c.407C>T	c.(406-408)ACA>ATA	p.T136I	FAM175A_uc003hot.2_5'Flank|FAM175A_uc003hov.2_Missense_Mutation_p.T27I	NM_139076	NP_620775	Q6UWZ7	F175A_HUMAN	coiled-coil domain containing 98	136					chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			kidney(1)	1																		---	---	---	---
NKX6-1	4825	broad.mit.edu	37	4	85419160	85419160	+	Silent	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85419160G>T	uc003hpa.1	-	1	228	c.222C>A	c.(220-222)CCC>CCA	p.P74P		NM_006168	NP_006159	P78426	NKX61_HUMAN	NK6 transcription factor related, locus 1	74					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)														---	---	---	---
GPRIN3	285513	broad.mit.edu	37	4	90170138	90170138	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:90170138C>T	uc003hsm.1	-	2	1643	c.1124G>A	c.(1123-1125)AGC>AAC	p.S375N		NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	G protein-regulated inducer of neurite outgrowth	375										ovary(3)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)														---	---	---	---
NHEDC1	150159	broad.mit.edu	37	4	103866441	103866441	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:103866441C>T	uc003hww.2	-	6	684	c.562G>A	c.(562-564)GCT>ACT	p.A188T	NHEDC1_uc003hwu.2_Missense_Mutation_p.A188T|NHEDC1_uc010ilm.2_Intron|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Intron	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Na+/H+ exchanger domain containing 1 isoform 1	188	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)														---	---	---	---
NPNT	255743	broad.mit.edu	37	4	106888380	106888380	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:106888380C>T	uc003hya.2	+	11	1586	c.1381C>T	c.(1381-1383)CCA>TCA	p.P461S	NPNT_uc011cfc.1_Missense_Mutation_p.P478S|NPNT_uc011cfd.1_Missense_Mutation_p.P491S|NPNT_uc011cfe.1_Missense_Mutation_p.P462S|NPNT_uc010ilt.1_Missense_Mutation_p.P432S|NPNT_uc011cff.1_Missense_Mutation_p.P432S|NPNT_uc010ilu.1_Intron	NM_001033047	NP_001028219	Q6UXI9	NPNT_HUMAN	nephronectin precursor	461	MAM.				cell differentiation	membrane	calcium ion binding			skin(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)														---	---	---	---
ALPK1	80216	broad.mit.edu	37	4	113346862	113346862	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:113346862C>T	uc003iap.3	+	7	856	c.577C>T	c.(577-579)CAG>TAG	p.Q193*	ALPK1_uc011cfw.1_RNA|ALPK1_uc003ian.3_Nonsense_Mutation_p.Q193*|ALPK1_uc011cfx.1_Nonsense_Mutation_p.Q115*|ALPK1_uc003iao.3_RNA|ALPK1_uc010imo.2_5'UTR	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	193							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)														---	---	---	---
LARP7	51574	broad.mit.edu	37	4	113567814	113567814	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:113567814G>A	uc003iay.2	+	4	652	c.374G>A	c.(373-375)CGC>CAC	p.R125H	LARP7_uc003iaz.2_Missense_Mutation_p.R132H|LARP7_uc003iba.2_Missense_Mutation_p.R46H|LARP7_uc003ibb.2_Missense_Mutation_p.R125H	NM_016648	NP_057732	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	125	RRM.				RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(3)	3		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)														---	---	---	---
NDST3	9348	broad.mit.edu	37	4	119163293	119163293	+	Silent	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:119163293A>C	uc003ibx.2	+	12	2791	c.2388A>C	c.(2386-2388)TCA>TCC	p.S796S		NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	796	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1																		---	---	---	---
TNIP3	79931	broad.mit.edu	37	4	122062982	122062982	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:122062982G>A	uc010ing.2	-	9	1070	c.874C>T	c.(874-876)CGG>TGG	p.R292W	TNIP3_uc010inh.2_Missense_Mutation_p.R292W|TNIP3_uc011cgj.1_Missense_Mutation_p.R350W	NM_024873	NP_079149	Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	292										ovary(1)	1																		---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123107276	123107276	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123107276T>C	uc003ieh.2	+	5	489	c.444T>C	c.(442-444)CTT>CTC	p.L148L	KIAA1109_uc003iei.1_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	148					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	123275094	123275094	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123275094C>T	uc003ieh.2	+	80	14272	c.14227C>T	c.(14227-14229)CGT>TGT	p.R4743C	KIAA1109_uc003iem.2_Missense_Mutation_p.R1099C	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	4743					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---
SPATA5	166378	broad.mit.edu	37	4	123868515	123868515	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123868515G>A	uc003iez.3	+	9	1659	c.1586G>A	c.(1585-1587)CGG>CAG	p.R529Q	SPATA5_uc003iey.2_Missense_Mutation_p.R528Q	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	529					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity				0																		---	---	---	---
MFSD8	256471	broad.mit.edu	37	4	128841999	128841999	+	Intron	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:128841999G>T	uc003ifp.2	-						MFSD8_uc011cgu.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																		---	---	---	---
PCDH18	54510	broad.mit.edu	37	4	138451730	138451730	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:138451730A>G	uc003ihe.3	-	1	1900	c.1513T>C	c.(1513-1515)TTG>CTG	p.L505L	PCDH18_uc003ihf.3_Silent_p.L498L|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Silent_p.L285L|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	505	Extracellular (Potential).|Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)																	---	---	---	---
POU4F2	5458	broad.mit.edu	37	4	147561442	147561442	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:147561442G>A	uc003ikv.2	+	2	960	c.712G>A	c.(712-714)GCG>ACG	p.A238T		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Brn3b POU domain transcription factor	238					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)																	---	---	---	---
FBXW7	55294	broad.mit.edu	37	4	153249385	153249385	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:153249385G>A	uc003ims.2	-	9	1542	c.1393C>T	c.(1393-1395)CGT>TGT	p.R465C	FBXW7_uc011cii.1_Missense_Mutation_p.R465C|FBXW7_uc003imt.2_Missense_Mutation_p.R465C|FBXW7_uc011cih.1_Missense_Mutation_p.R289C|FBXW7_uc003imq.2_Missense_Mutation_p.R385C|FBXW7_uc003imr.2_Missense_Mutation_p.R347C	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	465	WD 3.		R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in a acute lymphoblastic leukemia cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R465C(52)|p.R465H(36)|p.R465L(2)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)						Mis|N|D|F		colorectal|endometrial|T-ALL								---	---	---	---
TLR2	7097	broad.mit.edu	37	4	154625775	154625775	+	Silent	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:154625775C>A	uc003inq.2	+	3	1935	c.1716C>A	c.(1714-1716)GGC>GGA	p.G572G	TLR2_uc003inr.2_Silent_p.G572G|TLR2_uc003ins.2_Silent_p.G572G	NM_003264	NP_003255	O60603	TLR2_HUMAN	toll-like receptor 2 precursor	572	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)																---	---	---	---
PLRG1	5356	broad.mit.edu	37	4	155458569	155458569	+	Missense_Mutation	SNP	C	T	T	rs144644967	byFrequency	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:155458569C>T	uc003iny.2	-	14	1417	c.1354G>A	c.(1354-1356)GCA>ACA	p.A452T	PLRG1_uc003inz.2_Missense_Mutation_p.A443T	NM_002669	NP_002660	O43660	PLRG1_HUMAN	pleiotropic regulator 1 (PRL1 homolog,	452						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity				0	all_hematologic(180;0.215)	Renal(120;0.0854)																---	---	---	---
PLRG1	5356	broad.mit.edu	37	4	155459192	155459192	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:155459192T>A	uc003iny.2	-	13	1283	c.1220A>T	c.(1219-1221)CAA>CTA	p.Q407L	PLRG1_uc003inz.2_Missense_Mutation_p.Q398L	NM_002669	NP_002660	O43660	PLRG1_HUMAN	pleiotropic regulator 1 (PRL1 homolog,	407	WD 5.					catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity				0	all_hematologic(180;0.215)	Renal(120;0.0854)																---	---	---	---
GRIA2	2891	broad.mit.edu	37	4	158281228	158281228	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:158281228A>G	uc003ipm.3	+	13	2683	c.2224A>G	c.(2224-2226)ATG>GTG	p.M742V	GRIA2_uc011cit.1_Missense_Mutation_p.M695V|GRIA2_uc003ipl.3_Missense_Mutation_p.M742V|GRIA2_uc003ipk.3_Missense_Mutation_p.M695V|GRIA2_uc010iqh.1_RNA|GRIA2_uc011ciu.1_Missense_Mutation_p.M52V|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_Missense_Mutation_p.M52V|GRIA2_uc011ciy.1_Missense_Mutation_p.M52V|GRIA2_uc011ciz.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	742	Extracellular (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)													---	---	---	---
TLL1	7092	broad.mit.edu	37	4	166964495	166964495	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:166964495G>A	uc003irh.1	+	12	2095	c.1448G>A	c.(1447-1449)CGC>CAC	p.R483H	TLL1_uc011cjn.1_Missense_Mutation_p.R483H|TLL1_uc011cjo.1_Missense_Mutation_p.R307H	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	483	CUB 2.				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)														---	---	---	---
CLCN3	1182	broad.mit.edu	37	4	170634343	170634343	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:170634343C>A	uc003isi.2	+	12	2772	c.2263C>A	c.(2263-2265)CTT>ATT	p.L755I	CLCN3_uc003ish.2_Missense_Mutation_p.L755I|CLCN3_uc011cjz.1_Missense_Mutation_p.L738I|CLCN3_uc011cka.1_Missense_Mutation_p.L728I|CLCN3_uc003isj.1_Missense_Mutation_p.L728I	NM_001829	NP_001820	P51790	CLCN3_HUMAN	chloride channel 3 isoform b	755	CBS 2.|Cytoplasmic (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)														---	---	---	---
HELT	391723	broad.mit.edu	37	4	185941701	185941701	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:185941701G>A	uc011ckq.1	+	4	759	c.759G>A	c.(757-759)CCG>CCA	p.P253P	HELT_uc011cko.1_Silent_p.P168P|HELT_uc003ixa.3_Silent_p.P167P|HELT_uc011ckp.1_Silent_p.P111P	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN	HES/HEY-like transcription factor	253	Pro-rich.						DNA binding				0		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|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)														---	---	---	---
HELT	391723	broad.mit.edu	37	4	185941780	185941780	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:185941780C>T	uc011ckq.1	+	4	838	c.838C>T	c.(838-840)CCA>TCA	p.P280S	HELT_uc011cko.1_Missense_Mutation_p.P195S|HELT_uc003ixa.3_Missense_Mutation_p.P194S|HELT_uc011ckp.1_Missense_Mutation_p.P138S	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN	HES/HEY-like transcription factor	280	Pro-rich.						DNA binding				0		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|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)														---	---	---	---
PAPD7	11044	broad.mit.edu	37	5	6739961	6739961	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:6739961C>A	uc003jdx.1	+	4	383	c.254C>A	c.(253-255)GCT>GAT	p.A85D	PAPD7_uc011cmn.1_Missense_Mutation_p.A76D	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN	DNA polymerase sigma	85					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			ovary(1)	1																		---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11364852	11364852	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:11364852T>C	uc003jfa.1	-	8	1473	c.1328A>G	c.(1327-1329)GAC>GGC	p.D443G	CTNND2_uc010itt.2_Missense_Mutation_p.D352G|CTNND2_uc011cmy.1_Missense_Mutation_p.D106G|CTNND2_uc011cmz.1_Missense_Mutation_p.D10G|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.D10G	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	443				D -> V (in Ref. 1; AAC63103).	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	13817727	13817727	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13817727G>A	uc003jfd.2	-	42	6960	c.6918C>T	c.(6916-6918)GAC>GAT	p.D2306D		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2306	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	13923470	13923470	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13923470G>A	uc003jfd.2	-	4	399	c.357C>T	c.(355-357)AAC>AAT	p.N119N	DNAH5_uc003jfe.1_RNA	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	119	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				---	---	---	---
FBXL7	23194	broad.mit.edu	37	5	15936751	15936751	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:15936751T>C	uc003jfn.1	+	4	1413	c.932T>C	c.(931-933)CTG>CCG	p.L311P		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	311	LRR 6.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3																		---	---	---	---
MYO10	4651	broad.mit.edu	37	5	16672919	16672919	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:16672919T>C	uc003jft.3	-	37	5656	c.5188A>G	c.(5188-5190)ATC>GTC	p.I1730V	MYO10_uc011cnb.1_Missense_Mutation_p.I359V|MYO10_uc011cnc.1_Missense_Mutation_p.I609V|MYO10_uc011cnd.1_Missense_Mutation_p.I1087V|MYO10_uc011cne.1_Missense_Mutation_p.I1087V|MYO10_uc010itx.2_Missense_Mutation_p.I1352V	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1730	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3																		---	---	---	---
MYO10	4651	broad.mit.edu	37	5	16701393	16701393	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:16701393G>A	uc003jft.3	-	25	3579	c.3111C>T	c.(3109-3111)AAC>AAT	p.N1037N	MYO10_uc011cnc.1_5'Flank|MYO10_uc011cnd.1_Silent_p.N394N|MYO10_uc011cne.1_Silent_p.N394N|MYO10_uc010itx.2_Silent_p.N660N	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1037					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3																		---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24509929	24509929	+	Splice_Site	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:24509929C>T	uc003jgr.1	-	7	1335	c.1003_splice	c.e7-1	p.P335_splice	CDH10_uc011cnu.1_Splice_Site	NM_006727	NP_006718			cadherin 10, type 2 preproprotein						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)			---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	31983446	31983446	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:31983446T>C	uc003jhl.2	+	3	1050	c.662T>C	c.(661-663)GTC>GCC	p.V221A	PDZD2_uc003jhm.2_Missense_Mutation_p.V221A|PDZD2_uc011cnx.1_Missense_Mutation_p.V47A	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	221					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9																		---	---	---	---
RXFP3	51289	broad.mit.edu	37	5	33937788	33937788	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:33937788G>A	uc003jic.1	+	1	1300	c.943G>A	c.(943-945)GGA>AGA	p.G315R		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	315	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	37045628	37045628	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37045628T>A	uc003jkl.3	+	37	6926	c.6427T>A	c.(6427-6429)TCC>ACC	p.S2143T	NIPBL_uc003jkk.3_Missense_Mutation_p.S2143T	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	2143					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)															---	---	---	---
HEATR7B2	133558	broad.mit.edu	37	5	41004956	41004956	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41004956T>C	uc003jmj.3	-	36	4421	c.3931A>G	c.(3931-3933)AGT>GGT	p.S1311G	HEATR7B2_uc003jmi.3_Missense_Mutation_p.S866G	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	1311							binding			ovary(6)|central_nervous_system(2)	8																		---	---	---	---
HEATR7B2	133558	broad.mit.edu	37	5	41018858	41018858	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41018858C>A	uc003jmj.3	-	26	3098	c.2608G>T	c.(2608-2610)GGA>TGA	p.G870*	HEATR7B2_uc003jmi.3_Nonsense_Mutation_p.G425*	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	870							binding			ovary(6)|central_nervous_system(2)	8																		---	---	---	---
C6	729	broad.mit.edu	37	5	41160334	41160334	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41160334G>A	uc003jmk.2	-	11	1804	c.1594C>T	c.(1594-1596)CCC>TCC	p.P532S	C6_uc003jml.1_Missense_Mutation_p.P532S	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	532	EGF-like.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)																---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45303873	45303873	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:45303873A>C	uc003jok.2	-	6	1471	c.1446T>G	c.(1444-1446)AAT>AAG	p.N482K		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	482	cAMP.|Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1																		---	---	---	---
ISL1	3670	broad.mit.edu	37	5	50685514	50685514	+	Silent	SNP	G	A	A	rs121913540		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:50685514G>A	uc003jor.2	+	4	1061	c.513G>A	c.(511-513)CGG>CGA	p.R171R		NM_002202	NP_002193	P61371	ISL1_HUMAN	islet-1	171					generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3		Lung NSC(810;0.000845)|Breast(144;0.0411)																---	---	---	---
CCNO	10309	broad.mit.edu	37	5	54527374	54527374	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:54527374C>T	uc003jpw.2	-	3	1039	c.882G>A	c.(880-882)ATG>ATA	p.M294I	CCNO_uc003jpv.2_RNA	NM_021147	NP_066970	P22674	CCNO_HUMAN	cyclin domain containing	294					cell cycle|cell division|depyrimidination|regulation of cyclin-dependent protein kinase activity	nucleoplasm	protein kinase binding|uracil DNA N-glycosylase activity				0		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)															---	---	---	---
MAP3K1	4214	broad.mit.edu	37	5	56168713	56168713	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:56168713G>A	uc003jqw.3	+	9	2068	c.1567G>A	c.(1567-1569)GTA>ATA	p.V523I		NM_005921	NP_005912	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase	523					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)														---	---	---	---
HTR1A	3350	broad.mit.edu	37	5	63256881	63256881	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:63256881C>T	uc011cqt.1	-	1	666	c.666G>A	c.(664-666)GCG>GCA	p.A222A		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	222	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)													---	---	---	---
TMEM171	134285	broad.mit.edu	37	5	72419385	72419385	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:72419385C>T	uc003kcm.2	+	2	389	c.185C>T	c.(184-186)GCG>GTG	p.A62V	TMEM171_uc003kcn.3_Missense_Mutation_p.A62V	NM_173490	NP_775761	Q8WVE6	TM171_HUMAN	transmembrane protein 171 isoform 1	62	Helical; (Potential).					integral to membrane					0		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)														---	---	---	---
XRCC4	7518	broad.mit.edu	37	5	82554470	82554470	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:82554470G>T	uc003kib.2	+	7	995	c.867G>T	c.(865-867)CAG>CAT	p.Q289H	XRCC4_uc003kia.1_Missense_Mutation_p.Q289H|XRCC4_uc003kid.2_Missense_Mutation_p.Q289H|XRCC4_uc003kic.2_Missense_Mutation_p.Q289H|XRCC4_uc003kie.2_Missense_Mutation_p.Q289H|XRCC4_uc003kif.1_Missense_Mutation_p.Q289H|XRCC4_uc003kig.2_RNA	NM_022406	NP_071801	Q13426	XRCC4_HUMAN	X-ray repair cross complementing protein 4	289					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					---	---	---	---
ERAP1	51752	broad.mit.edu	37	5	96116805	96116805	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:96116805C>T	uc003kmm.2	-	17	2892	c.2545G>A	c.(2545-2547)GCC>ACC	p.A849T	ERAP1_uc003kml.2_Missense_Mutation_p.A849T|ERAP1_uc010jbm.1_Missense_Mutation_p.A661T|ERAP1_uc003kmn.2_Missense_Mutation_p.A849T	NM_001040458	NP_001035548	Q9NZ08	ERAP1_HUMAN	type 1 tumor necrosis factor receptor shedding	849	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)														---	---	---	---
RGMB	285704	broad.mit.edu	37	5	98115291	98115291	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:98115291C>T	uc003knc.2	+	4	669	c.267C>T	c.(265-267)TGC>TGT	p.C89C	RGMB_uc003knb.2_Silent_p.C89C	NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN	RGM domain family, member B	48					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)														---	---	---	---
SLCO4C1	353189	broad.mit.edu	37	5	101606324	101606324	+	Intron	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:101606324T>G	uc003knm.2	-							NM_180991	NP_851322			solute carrier organic anion transporter family,						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)														---	---	---	---
SLC22A4	6583	broad.mit.edu	37	5	131671563	131671563	+	Silent	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:131671563C>A	uc003kwq.2	+	8	1479	c.1314C>A	c.(1312-1314)ACC>ACA	p.T438T	uc003kwr.3_Intron	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	solute carrier family 22 member 4	438	Helical; Name=10; (Potential).				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity				0		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)													---	---	---	---
IRF1	3659	broad.mit.edu	37	5	131819656	131819656	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:131819656G>T	uc003kxa.2	-	10	1199	c.965C>A	c.(964-966)CCC>CAC	p.P322H	C5orf56_uc010jds.1_Intron|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.P322H	NM_002198	NP_002189	P10914	IRF1_HUMAN	interferon regulatory factor 1	322					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm					0		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)														---	---	---	---
NEUROG1	4762	broad.mit.edu	37	5	134871159	134871159	+	Silent	SNP	G	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:134871159G>C	uc003lax.2	-	1	481	c.222C>G	c.(220-222)CGC>CGG	p.R74R		NM_006161	NP_006152	Q92886	NGN1_HUMAN	neurogenin 1	74					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)															---	---	---	---
BRD8	10902	broad.mit.edu	37	5	137495751	137495751	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137495751G>A	uc003lcf.1	-						BRD8_uc003lcc.1_Intron|BRD8_uc011cyl.1_Intron|BRD8_uc003lcg.2_Intron|BRD8_uc003lci.2_Intron|BRD8_uc003lch.2_Intron|BRD8_uc011cym.1_Intron|BRD8_uc010jer.1_Intron|BRD8_uc011cyn.1_Intron	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)															---	---	---	---
REEP2	51308	broad.mit.edu	37	5	137777118	137777118	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137777118G>A	uc003lcz.2	+	3	272	c.150G>A	c.(148-150)ACG>ACA	p.T50T	REEP2_uc003lda.2_Silent_p.T50T|REEP2_uc011cyt.1_Silent_p.T11T	NM_016606	NP_057690	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	50	Helical; (Potential).					integral to membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)															---	---	---	---
PURA	5813	broad.mit.edu	37	5	139494404	139494404	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:139494404A>C	uc003lfa.2	+	1	697	c.638A>C	c.(637-639)GAG>GCG	p.E213A		NM_005859	NP_005850	Q00577	PURA_HUMAN	purine-rich element binding protein A	213					DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
SLC35A4	113829	broad.mit.edu	37	5	139946971	139946971	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:139946971T>C	uc003lgg.1	+	3	945	c.217T>C	c.(217-219)TGG>CGG	p.W73R	APBB3_uc003lgd.1_5'Flank|APBB3_uc003lge.1_5'Flank|APBB3_uc003lgf.1_5'Flank|APBB3_uc010jfp.1_5'Flank|APBB3_uc011czi.1_5'Flank|APBB3_uc010jfr.1_5'Flank|SLC35A4_uc003lgh.1_Missense_Mutation_p.W73R	NM_080670	NP_542401	Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	73	Helical; (Potential).|Leu-rich.					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA4	56144	broad.mit.edu	37	5	140188299	140188299	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140188299G>A	uc003lhi.2	+	1	1628	c.1527G>A	c.(1525-1527)TCG>TCA	p.S509S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.S509S|PCDHA4_uc011daa.1_Silent_p.S509S	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	509	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA6	56142	broad.mit.edu	37	5	140209639	140209639	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140209639G>A	uc003lho.2	+	1	1990	c.1963G>A	c.(1963-1965)GGT>AGT	p.G655S	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_uc011dab.1_Missense_Mutation_p.G655S	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	655	Cadherin 6.|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)															---	---	---	---
PCDHA13	56136	broad.mit.edu	37	5	140263299	140263299	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140263299G>A	uc003lif.2	+	1	1446	c.1446G>A	c.(1444-1446)GCG>GCA	p.A482A	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_Silent_p.A482A|PCDHA13_uc003lid.2_Silent_p.A482A	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	482	Cadherin 5.|Extracellular (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)															---	---	---	---
PCDHA13	56136	broad.mit.edu	37	5	140263504	140263504	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140263504C>T	uc003lif.2	+	1	1651	c.1651C>T	c.(1651-1653)CTG>TTG	p.L551L	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_Silent_p.L551L|PCDHA13_uc003lid.2_Silent_p.L551L	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	551	Cadherin 5.|Extracellular (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)															---	---	---	---
PCDHA13	56136	broad.mit.edu	37	5	140263536	140263536	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140263536C>T	uc003lif.2	+	1	1683	c.1683C>T	c.(1681-1683)AAC>AAT	p.N561N	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_Silent_p.N561N|PCDHA13_uc003lid.2_Silent_p.N561N	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	561	Cadherin 5.|Extracellular (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)															---	---	---	---
PCDHAC2	56134	broad.mit.edu	37	5	140346519	140346519	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140346519G>A	uc003lii.2	+	1	408	c.168G>A	c.(166-168)GCG>GCA	p.A56A	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_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Silent_p.A56A	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	56	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHB2	56133	broad.mit.edu	37	5	140475355	140475355	+	Silent	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140475355G>T	uc003lil.2	+	1	1119	c.981G>T	c.(979-981)GGG>GGT	p.G327G	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	327	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140590109	140590109	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140590109G>A	uc003liz.2	+	1	1819	c.1630G>A	c.(1630-1632)GAG>AAG	p.E544K	PCDHB12_uc011dak.1_Missense_Mutation_p.E207K	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	544	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)															---	---	---	---
PCDHGA6	56109	broad.mit.edu	37	5	140754749	140754749	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140754749G>A	uc003ljy.1	+	1	1099	c.1099G>A	c.(1099-1101)GCC>ACC	p.A367T	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_uc011dau.1_Missense_Mutation_p.A367T	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	367	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)															---	---	---	---
DIAPH1	1729	broad.mit.edu	37	5	140903716	140903716	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140903716G>A	uc003llb.3	-	28	3796	c.3655C>T	c.(3655-3657)CGT>TGT	p.R1219C	DIAPH1_uc011dbd.1_Missense_Mutation_p.R113C|DIAPH1_uc003llc.3_Missense_Mutation_p.R1210C	NM_005219	NP_005210	O60610	DIAP1_HUMAN	diaphanous 1 isoform 1	1219	DAD.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
DIAPH1	1729	broad.mit.edu	37	5	140956318	140956318	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140956318C>T	uc003llb.3	-						DIAPH1_uc003llc.3_Intron|DIAPH1_uc010jgc.1_5'Flank	NM_005219	NP_005210			diaphanous 1 isoform 1						regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
GNPDA1	10007	broad.mit.edu	37	5	141385765	141385765	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:141385765C>T	uc003lmf.3	-	3	1112	c.353G>A	c.(352-354)TGT>TAT	p.C118Y	GNPDA1_uc003lmg.3_Missense_Mutation_p.C118Y|GNPDA1_uc010jgh.2_Missense_Mutation_p.C118Y|GNPDA1_uc003lmh.3_Missense_Mutation_p.C84Y	NM_005471	NP_005462	P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	118					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity				0		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
RPS14	6208	broad.mit.edu	37	5	149826448	149826448	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149826448C>A	uc003lsh.2	-	3	501	c.228G>T	c.(226-228)TTG>TTT	p.L76F	uc003lsg.2_5'Flank|RPS14_uc003lsi.2_Missense_Mutation_p.L76F|RPS14_uc003lsj.2_Missense_Mutation_p.L76F	NM_001025071	NP_001020242	P62263	RS14_HUMAN	ribosomal protein S14	76					endocrine pancreas development|erythrocyte differentiation|maturation of SSU-rRNA|negative regulation of transcription from RNA polymerase II promoter|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA 5'-UTR binding|protein binding|structural constituent of ribosome|translation regulator activity			central_nervous_system(1)	1		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
NDST1	3340	broad.mit.edu	37	5	149915269	149915269	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149915269G>A	uc003lsk.3	+	6	1761	c.1259G>A	c.(1258-1260)GGC>GAC	p.G420D	NDST1_uc011dcj.1_Missense_Mutation_p.G420D|NDST1_uc003lsl.2_Missense_Mutation_p.G420D	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	420	Heparan sulfate N-deacetylase 1.|Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(1)|skin(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
NDST1	3340	broad.mit.edu	37	5	149925026	149925026	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149925026A>G	uc003lsk.3	+	11	2625	c.2123A>G	c.(2122-2124)GAC>GGC	p.D708G	NDST1_uc011dcj.1_Missense_Mutation_p.D708G	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	708	Heparan sulfate N-sulfotransferase 1.|Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(1)|skin(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
TNIP1	10318	broad.mit.edu	37	5	150411891	150411891	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150411891G>T	uc003ltf.2	-	17	2422	c.1833C>A	c.(1831-1833)AGC>AGA	p.S611R	TNIP1_uc011dcn.1_Missense_Mutation_p.S129R|TNIP1_uc010jhl.2_RNA|TNIP1_uc010jhm.2_Missense_Mutation_p.S547R|TNIP1_uc010jhn.2_Intron|TNIP1_uc011dco.1_Missense_Mutation_p.A617D|TNIP1_uc003lth.2_RNA|TNIP1_uc003lti.2_Missense_Mutation_p.S611R|TNIP1_uc003ltg.2_Missense_Mutation_p.S558R|TNIP1_uc003ltj.2_Missense_Mutation_p.S611R|TNIP1_uc010jho.1_RNA|TNIP1_uc010jhq.1_Intron|TNIP1_uc010jhp.1_Missense_Mutation_p.S494R|TNIP1_uc010jhr.1_Missense_Mutation_p.S611R|TNIP1_uc003ltk.2_Missense_Mutation_p.S611R	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	611	Pro-rich.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
G3BP1	10146	broad.mit.edu	37	5	151170610	151170610	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:151170610T>C	uc003lun.2	+	4	509	c.338T>C	c.(337-339)GTC>GCC	p.V113A	G3BP1_uc010jhy.1_Missense_Mutation_p.V113A|G3BP1_uc003lum.2_Missense_Mutation_p.V113A|G3BP1_uc011dcu.1_5'UTR|G3BP1_uc010jhz.2_5'UTR	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Ras-GTPase-activating protein SH3-domain-binding	113	NTF2.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			skin(3)|ovary(1)	4		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)															---	---	---	---
HAVCR2	84868	broad.mit.edu	37	5	156514218	156514218	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156514218A>G	uc003lwk.1	-	7	945	c.801T>C	c.(799-801)ATT>ATC	p.I267I		NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	T cell immunoglobulin mucin 3 precursor	267	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)															---	---	---	---
GABRA6	2559	broad.mit.edu	37	5	161116141	161116141	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:161116141A>G	uc003lyu.2	+	4	750	c.412A>G	c.(412-414)ATA>GTA	p.I138V	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	138	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	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)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)										TCGA Ovarian(5;0.080)			---	---	---	---
ODZ2	57451	broad.mit.edu	37	5	167589717	167589717	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:167589717G>A	uc010jjd.2	+	13	2497	c.2497G>A	c.(2497-2499)GTT>ATT	p.V833I	ODZ2_uc003lzr.3_Missense_Mutation_p.V610I|ODZ2_uc003lzt.3_Missense_Mutation_p.V206I|ODZ2_uc010jje.2_Missense_Mutation_p.V104I|uc003lzs.1_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)														---	---	---	---
CCDC99	54908	broad.mit.edu	37	5	169020375	169020375	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169020375G>A	uc003mae.3	+	4	633	c.354G>A	c.(352-354)GTG>GTA	p.V118V	CCDC99_uc010jjj.2_Silent_p.V47V|CCDC99_uc011deq.1_Intron|CCDC99_uc010jjk.2_5'UTR	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	coiled-coil domain containing 99	118	Potential.				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)															---	---	---	---
CCDC99	54908	broad.mit.edu	37	5	169021259	169021259	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169021259G>A	uc003mae.3	+	5	921	c.642G>A	c.(640-642)GAG>GAA	p.E214E	CCDC99_uc010jjj.2_Silent_p.E143E|CCDC99_uc011deq.1_Silent_p.E31E|CCDC99_uc010jjk.2_Intron	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	coiled-coil domain containing 99	214	Potential.				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)															---	---	---	---
SH3PXD2B	285590	broad.mit.edu	37	5	171777412	171777412	+	Missense_Mutation	SNP	C	A	A	rs111492578		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:171777412C>A	uc003mbr.2	-	10	1138	c.967G>T	c.(967-969)GGG>TGG	p.G323W		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	323					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)															---	---	---	---
DRD1	1812	broad.mit.edu	37	5	174870015	174870015	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:174870015G>T	uc003mcz.2	-	2	1033	c.88C>A	c.(88-90)CTG>ATG	p.L30M		NM_000794	NP_000785	P21728	DRD1_HUMAN	dopamine receptor D1	30	Helical; Name=1; (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			ovary(2)|skin(1)	3	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)													---	---	---	---
RGS14	10636	broad.mit.edu	37	5	176797920	176797920	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176797920C>T	uc003mgf.2	+	11	1324	c.1142C>T	c.(1141-1143)GCG>GTG	p.A381V	RGS14_uc003mgh.2_Missense_Mutation_p.A229V|RGS14_uc003mgi.2_Missense_Mutation_p.A152V|RGS14_uc003mgj.2_5'Flank	NM_006480	NP_006471	O43566	RGS14_HUMAN	regulator of G-protein signalling 14	381	RBD 2.|Necessary for interaction with RABGEF1 (By similarity).				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			lung(1)	1	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)															---	---	---	---
CANX	821	broad.mit.edu	37	5	179150668	179150668	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179150668T>C	uc003mkk.2	+	12	1583	c.1406T>C	c.(1405-1407)GTT>GCT	p.V469A	CANX_uc011dgp.1_Missense_Mutation_p.V504A|CANX_uc003mkl.2_Missense_Mutation_p.V469A|CANX_uc011dgq.1_Missense_Mutation_p.V361A	NM_001746	NP_001737	P27824	CALX_HUMAN	calnexin precursor	469	Lumenal (Potential).				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding				0	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
FAM50B	26240	broad.mit.edu	37	6	3850592	3850592	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:3850592G>A	uc003mvu.2	+	2	659	c.547G>A	c.(547-549)GAG>AAG	p.E183K		NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	183						nucleus				pancreas(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)																---	---	---	---
RREB1	6239	broad.mit.edu	37	6	7231972	7231972	+	Missense_Mutation	SNP	G	A	A	rs146641651		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7231972G>A	uc003mxc.2	+	10	4030	c.3640G>A	c.(3640-3642)GAC>AAC	p.D1214N	RREB1_uc003mxb.2_Missense_Mutation_p.D1214N|RREB1_uc010jnx.2_Missense_Mutation_p.D1214N	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	1214					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)																---	---	---	---
DSP	1832	broad.mit.edu	37	6	7576615	7576615	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7576615C>T	uc003mxp.1	+	19	2998	c.2719C>T	c.(2719-2721)CGC>TGC	p.R907C	DSP_uc003mxq.1_Missense_Mutation_p.R907C	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	907	Globular 1.|Spectrin 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)														---	---	---	---
HIVEP1	3096	broad.mit.edu	37	6	12125503	12125503	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:12125503T>C	uc003nac.2	+	4	5654	c.5475T>C	c.(5473-5475)AAT>AAC	p.N1825N	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	1825					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)																---	---	---	---
GFOD1	54438	broad.mit.edu	37	6	13365634	13365634	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:13365634C>T	uc003nat.1	-	2	1179	c.514G>A	c.(514-516)GGC>AGC	p.G172S	GFOD1_uc003nas.1_Missense_Mutation_p.G69S	NM_018988	NP_061861	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain	172						extracellular region	binding|oxidoreductase activity			ovary(2)	2	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)															---	---	---	---
JARID2	3720	broad.mit.edu	37	6	15520332	15520332	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:15520332C>T	uc003nbj.2	+	18	3835	c.3591C>T	c.(3589-3591)TGC>TGT	p.C1197C	JARID2_uc011div.1_Silent_p.C1025C	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	1197					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)																---	---	---	---
C6orf62	81688	broad.mit.edu	37	6	24714607	24714607	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24714607T>C	uc003nel.2	-	3	875	c.368A>G	c.(367-369)AAA>AGA	p.K123R		NM_030939	NP_112201	Q9GZU0	CF062_HUMAN	hypothetical protein LOC81688	123						intracellular					0																		---	---	---	---
BTN3A3	10384	broad.mit.edu	37	6	26452193	26452193	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26452193A>G	uc003nhz.2	+	11	1489	c.1309A>G	c.(1309-1311)ACT>GCT	p.T437A	BTN3A3_uc003nia.2_Missense_Mutation_p.T395A|BTN3A3_uc011dkn.1_Missense_Mutation_p.T388A	NM_006994	NP_008925	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3 isoform a	437	B30.2/SPRY.|Cytoplasmic (Potential).					integral to membrane					0																		---	---	---	---
BTN1A1	696	broad.mit.edu	37	6	26501975	26501975	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26501975C>T	uc003nif.3	+	2	257	c.237C>T	c.(235-237)GAC>GAT	p.D79D		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1 precursor	79	Extracellular (Potential).|Ig-like V-type 1.					extracellular region|integral to plasma membrane	receptor activity			ovary(1)|skin(1)	2																		---	---	---	---
HIST1H2BK	85236	broad.mit.edu	37	6	27114195	27114195	+	3'UTR	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:27114195G>A	uc003nix.1	-	1					HIST1H2AH_uc003niz.2_5'Flank|hsa-mir-3143|MI0014167_5'Flank	NM_080593	NP_542160			histone cluster 1, H2bk						defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding				0																		---	---	---	---
NKAPL	222698	broad.mit.edu	37	6	28227433	28227433	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28227433G>A	uc003nkt.2	+	1	336	c.284G>A	c.(283-285)CGC>CAC	p.R95H	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	95										upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
OR5V1	81696	broad.mit.edu	37	6	29323689	29323689	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29323689A>G	uc011dlo.1	-	1	366	c.284T>C	c.(283-285)GTG>GCG	p.V95A		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V,	95	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|kidney(1)	4																		---	---	---	---
HLA-A	3105	broad.mit.edu	37	6	29910672	29910672	+	Missense_Mutation	SNP	C	A	A	rs41563719		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29910672C>A	uc003nol.2	+	2	212	c.212C>A	c.(211-213)CCG>CAG	p.P71Q	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Missense_Mutation_p.P71Q|HLA-A_uc003noo.2_Missense_Mutation_p.P71Q|HLA-A_uc010jrr.2_Missense_Mutation_p.P71Q|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Missense_Mutation_p.P43Q|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	major histocompatibility complex, class I, A	71	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2														Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Multiple Myeloma(9;0.094)			---	---	---	---
PPP1R11	6992	broad.mit.edu	37	6	30036905	30036905	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30036905G>A	uc003npb.2	+	3	459	c.203G>A	c.(202-204)CGG>CAG	p.R68Q	PPP1R11_uc010jrw.2_RNA|PPP1R11_uc003npc.2_RNA	NM_021959	NP_068778	O60927	PP1RB_HUMAN	protein phosphatase 1, regulatory (inhibitor)	68						soluble fraction	protein binding|protein phosphatase inhibitor activity			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
HLA-B	3106	broad.mit.edu	37	6	31323371	31323371	+	Splice_Site	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31323371T>G	uc003nth.2	-	4	674	c.620_splice	c.e4-1	p.D207_splice	HLA-C_uc003ntb.2_Splice_Site|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_Splice_Site|HLA-B_uc011dnk.1_Splice_Site|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Splice_Site_p.D86_splice|HLA-B_uc003nti.1_Splice_Site|HLA-B_uc010jsn.1_Intron|HLA-B_uc010jso.2_3'UTR	NM_005514	NP_005505			major histocompatibility complex, class I, B						antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity				0														Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of				---	---	---	---
BAT2	7916	broad.mit.edu	37	6	31597533	31597533	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31597533G>A	uc003nvb.3	+	14	2414	c.2165G>A	c.(2164-2166)CGA>CAA	p.R722Q	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.R722Q	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	722	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0																		---	---	---	---
MSH5	4439	broad.mit.edu	37	6	31713067	31713067	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31713067G>A	uc003nwv.1	+	9	816	c.737G>A	c.(736-738)AGT>AAT	p.S246N	MSH5_uc003nwt.1_Missense_Mutation_p.S263N|MSH5_uc003nwu.1_Missense_Mutation_p.S246N|MSH5_uc003nww.1_Missense_Mutation_p.S246N|MSH5_uc003nwx.1_Missense_Mutation_p.S263N|MSH5_uc011dof.1_Intron	NM_172166	NP_751898	O43196	MSH5_HUMAN	mutS homolog 5 isoform c	246					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					---	---	---	---
VARS	7407	broad.mit.edu	37	6	31747238	31747238	+	Missense_Mutation	SNP	G	A	A	rs138566905		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31747238G>A	uc003nxe.2	-	28	3787	c.3364C>T	c.(3364-3366)CGG>TGG	p.R1122W	C6orf27_uc011dog.1_5'Flank|C6orf27_uc003nxd.2_5'Flank|C6orf27_uc011doh.1_5'Flank|VARS_uc003nxf.1_Missense_Mutation_p.R59W	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1122					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)													---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32035685	32035685	+	Silent	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32035685C>A	uc003nzl.2	-	18	6499	c.6297G>T	c.(6295-6297)GGG>GGT	p.G2099G		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2171	Fibronectin type-III 14.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0																		---	---	---	---
COL11A2	1302	broad.mit.edu	37	6	33137233	33137233	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33137233G>A	uc003ocx.1	-	51	3953	c.3725C>T	c.(3724-3726)TCG>TTG	p.S1242L	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.S1156L|COL11A2_uc003ocz.1_Missense_Mutation_p.S1135L	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1242	Triple-helical region.				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																		---	---	---	---
BAK1	578	broad.mit.edu	37	6	33543205	33543205	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33543205C>T	uc003oes.2	-	4	520	c.220G>A	c.(220-222)GTG>ATG	p.V74M	BAK1_uc003oer.2_Missense_Mutation_p.V4M|BAK1_uc003oet.2_RNA|BAK1_uc010jvb.2_Missense_Mutation_p.V74M|BAK1_uc003oeu.2_Missense_Mutation_p.V15M|BAK1_uc011drj.1_Missense_Mutation_p.V74M	NM_001188	NP_001179	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	74	BH3.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity			ovary(1)	1																		---	---	---	---
PACSIN1	29993	broad.mit.edu	37	6	34497328	34497328	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:34497328A>G	uc003ojo.2	+	5	817	c.611A>G	c.(610-612)AAG>AGG	p.K204R	PACSIN1_uc003ojp.2_Missense_Mutation_p.K204R	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in	204	Potential.				endocytosis		protein kinase activity				0																		---	---	---	---
PPARD	5467	broad.mit.edu	37	6	35389648	35389648	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:35389648C>T	uc003okm.2	+	5	646	c.337C>T	c.(337-339)CGC>TGC	p.R113C	PPARD_uc003okl.2_Missense_Mutation_p.R113C|PPARD_uc003okn.2_Missense_Mutation_p.R113C|PPARD_uc011dtb.1_Missense_Mutation_p.R74C|PPARD_uc011dtc.1_Intron|PPARD_uc010jvv.1_RNA	NM_006238	NP_006229	Q03181	PPARD_HUMAN	peroxisome proliferative activated receptor,	113	Nuclear receptor.|NR C4-type.				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)													---	---	---	---
TULP1	7287	broad.mit.edu	37	6	35473838	35473838	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:35473838T>C	uc003okv.3	-	10	953	c.941A>G	c.(940-942)AAG>AGG	p.K314R	TULP1_uc003okw.3_Missense_Mutation_p.K261R	NM_003322	NP_003313	O00294	TULP1_HUMAN	tubby like protein 1	314					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
PPIL1	51645	broad.mit.edu	37	6	36842542	36842542	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:36842542C>T	uc003omu.2	-	1	259	c.7G>A	c.(7-9)GCA>ACA	p.A3T	C6orf89_uc003omv.2_Intron	NM_016059	NP_057143	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase-like 1	3					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	p.A3V(1)		ovary(1)	1																		---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38747811	38747811	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38747811C>T	uc003ooe.1	+	13	2058	c.1458C>T	c.(1456-1458)TAC>TAT	p.Y486Y		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																		---	---	---	---
LRFN2	57497	broad.mit.edu	37	6	40399747	40399747	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:40399747G>A	uc003oph.1	-	2	1571	c.1106C>T	c.(1105-1107)ACG>ATG	p.T369M		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	369	Extracellular (Potential).|Ig-like.					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)																	---	---	---	---
USP49	25862	broad.mit.edu	37	6	41773935	41773935	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:41773935A>C	uc003ori.2	-	4	1009	c.787T>G	c.(787-789)TAC>GAC	p.Y263D		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	ubiquitin thioesterase 49	263					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)															---	---	---	---
XPO5	57510	broad.mit.edu	37	6	43515414	43515414	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43515414C>T	uc003ovp.2	-	19	2302	c.2091G>A	c.(2089-2091)GCG>GCA	p.A697A		NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	exportin 5	697				A -> V (in Ref. 3; BAA86605).	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)															---	---	---	---
TDRD6	221400	broad.mit.edu	37	6	46659451	46659451	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46659451A>C	uc003oyj.2	+	1	3586	c.3586A>C	c.(3586-3588)AGT>CGT	p.S1196R	TDRD6_uc010jze.2_Missense_Mutation_p.S1190R	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1196					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	46679257	46679257	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46679257C>T	uc010jzf.2	-	7	908	c.639G>A	c.(637-639)GAG>GAA	p.E213E	PLA2G7_uc010jzg.1_Silent_p.E213E|PLA2G7_uc011dwd.1_Silent_p.E168E|PLA2G7_uc011dwe.1_Silent_p.E86E	NM_005084	NP_005075	Q13093	PAFA_HUMAN	phospholipase A2, group VII	213					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding				0			Lung(136;0.192)															---	---	---	---
GPR111	222611	broad.mit.edu	37	6	47649996	47649996	+	Silent	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:47649996C>A	uc010jzj.1	+	6	1702	c.1701C>A	c.(1699-1701)GGC>GGA	p.G567G	GPR111_uc010jzk.1_Silent_p.G499G|GPR111_uc003oyy.2_RNA	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	G-protein coupled receptor 111	567	Helical; Name=4; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1																		---	---	---	---
MUT	4594	broad.mit.edu	37	6	49416614	49416614	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:49416614A>G	uc003ozg.3	-	7	1614	c.1359T>C	c.(1357-1359)GGT>GGC	p.G453G		NM_000255	NP_000246	P22033	MUTA_HUMAN	methylmalonyl Coenzyme A mutase precursor	453					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)													---	---	---	---
MCM3	4172	broad.mit.edu	37	6	52144285	52144285	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:52144285C>T	uc003pan.1	-	5	754	c.644G>A	c.(643-645)CGC>CAC	p.R215H	MCM3_uc011dwu.1_Missense_Mutation_p.R169H	NM_002388	NP_002379	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	215					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	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)|lung(1)|skin(1)	3	Lung NSC(77;0.0931)																	---	---	---	---
OOEP	441161	broad.mit.edu	37	6	74078937	74078937	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:74078937C>T	uc003pgu.3	-	2	362	c.362G>A	c.(361-363)CGT>CAT	p.R121H	OOEP_uc003pgv.3_Missense_Mutation_p.R66H	NM_001080507	NP_001073976	A6NGQ2	OOEP_HUMAN	oocyte expressed protein homolog	121						cytoplasm					0																		---	---	---	---
IBTK	25998	broad.mit.edu	37	6	82950101	82950101	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:82950101C>T	uc003pjl.1	-	2	630	c.103G>A	c.(103-105)GCC>ACC	p.A35T	IBTK_uc011dyv.1_Missense_Mutation_p.A35T|IBTK_uc011dyw.1_Missense_Mutation_p.A35T|IBTK_uc010kbi.1_5'UTR|IBTK_uc003pjm.2_Missense_Mutation_p.A35T	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	35					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)														---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	101053556	101053556	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:101053556G>A	uc003pqk.2	-	33	5394	c.5065C>T	c.(5065-5067)CGT>TGT	p.R1689C		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1689	Helicase C-terminal 2.				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	102266333	102266333	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:102266333G>A	uc003pqp.3	+	9	1541	c.1292G>A	c.(1291-1293)CGT>CAT	p.R431H	GRIK2_uc003pqn.2_Missense_Mutation_p.R431H|GRIK2_uc003pqo.3_Missense_Mutation_p.R431H|GRIK2_uc010kcw.2_Missense_Mutation_p.R431H	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	431	Extracellular (Potential).				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)													---	---	---	---
BEND3	57673	broad.mit.edu	37	6	107390838	107390838	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:107390838G>A	uc003prs.2	-	5	2207	c.1557C>T	c.(1555-1557)GGC>GGT	p.G519G		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	519										ovary(3)	3																		---	---	---	---
GPR6	2830	broad.mit.edu	37	6	110300547	110300547	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:110300547C>T	uc011eaw.1	+	2	412	c.232C>T	c.(232-234)CTC>TTC	p.L78F	GPR6_uc011eav.1_Missense_Mutation_p.L93F|GPR6_uc003ptu.2_Missense_Mutation_p.L78F	NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	78	Helical; Name=1; (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)														---	---	---	---
KPNA5	3841	broad.mit.edu	37	6	117010486	117010486	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117010486C>A	uc003pxh.2	+	2	139	c.8C>A	c.(7-9)GCC>GAC	p.A3D		NM_002269	NP_002260	O15131	IMA5_HUMAN	karyopherin alpha 5	Error:Variant_position_missing_in_O15131_after_alignment					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	117130556	117130556	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117130556A>C	uc003pxj.1	-	2	441	c.419T>G	c.(418-420)GTT>GGT	p.V140G	GPRC6A_uc003pxk.1_Missense_Mutation_p.V140G|GPRC6A_uc003pxl.1_Missense_Mutation_p.V140G	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	140	Extracellular (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	117248667	117248667	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117248667G>A	uc003pxm.2	+	17	2426	c.2363G>A	c.(2362-2364)TGC>TAC	p.C788Y		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	788					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																		---	---	---	---
CLVS2	134829	broad.mit.edu	37	6	123319047	123319047	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:123319047C>A	uc003pzi.1	+	2	994	c.125C>A	c.(124-126)CCG>CAG	p.P42Q		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	retinaldehyde binding protein 1-like 2	42					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																		---	---	---	---
C6orf174	387104	broad.mit.edu	37	6	127796581	127796581	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:127796581G>T	uc003qbd.2	-	6	3455	c.2590C>A	c.(2590-2592)CGC>AGC	p.R864S	C6orf174_uc003qbc.2_5'UTR	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	864						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)														---	---	---	---
TMEM200A	114801	broad.mit.edu	37	6	130761596	130761596	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:130761596G>T	uc003qca.2	+	3	900	c.29G>T	c.(28-30)GGC>GTC	p.G10V	TMEM200A_uc010kfh.2_Missense_Mutation_p.G10V|TMEM200A_uc010kfi.2_Missense_Mutation_p.G10V|TMEM200A_uc003qcb.2_Missense_Mutation_p.G10V	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	10	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)														---	---	---	---
TMEM200A	114801	broad.mit.edu	37	6	130762913	130762913	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:130762913C>G	uc003qca.2	+	3	2217	c.1346C>G	c.(1345-1347)GCC>GGC	p.A449G	TMEM200A_uc010kfh.2_Missense_Mutation_p.A449G|TMEM200A_uc010kfi.2_Missense_Mutation_p.A449G|TMEM200A_uc003qcb.2_Missense_Mutation_p.A449G	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	449	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)														---	---	---	---
MAP7	9053	broad.mit.edu	37	6	136698972	136698972	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:136698972G>A	uc003qgz.2	-	7	918	c.672C>T	c.(670-672)AGC>AGT	p.S224S	MAP7_uc011edf.1_Silent_p.S209S|MAP7_uc011edg.1_Silent_p.S246S|MAP7_uc010kgu.2_Silent_p.S246S|MAP7_uc011edh.1_Silent_p.S209S|MAP7_uc010kgv.2_Silent_p.S246S|MAP7_uc010kgs.2_Silent_p.S78S|MAP7_uc011edi.1_Silent_p.S78S|MAP7_uc010kgq.1_Silent_p.S130S|MAP7_uc003qha.1_Silent_p.S187S|MAP7_uc010kgr.2_Silent_p.S78S|MAP7_uc010kgt.2_Silent_p.S246S	NM_003980	NP_003971	Q14244	MAP7_HUMAN	microtubule-associated protein 7	224					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)														---	---	---	---
MAP7	9053	broad.mit.edu	37	6	136742893	136742893	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:136742893G>A	uc003qgz.2	-	2	358	c.112C>T	c.(112-114)CGC>TGC	p.R38C	MAP7_uc011edf.1_Missense_Mutation_p.R23C|MAP7_uc011edg.1_Missense_Mutation_p.R60C|MAP7_uc010kgu.2_Missense_Mutation_p.R60C|MAP7_uc011edh.1_Missense_Mutation_p.R60C|MAP7_uc010kgv.2_Missense_Mutation_p.R60C|MAP7_uc010kgs.2_5'UTR|MAP7_uc011edi.1_5'UTR|MAP7_uc010kgq.1_Missense_Mutation_p.R38C|MAP7_uc003qha.1_Missense_Mutation_p.R38C|MAP7_uc010kgr.2_Intron|MAP7_uc010kgt.2_Missense_Mutation_p.R60C	NM_003980	NP_003971	Q14244	MAP7_HUMAN	microtubule-associated protein 7	38					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)														---	---	---	---
TNFAIP3	7128	broad.mit.edu	37	6	138202374	138202374	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:138202374C>T	uc003qhr.2	+	9	2357	c.2291C>T	c.(2290-2292)GCC>GTC	p.A764V	TNFAIP3_uc003qhs.2_Missense_Mutation_p.A764V	NM_006290	NP_006281	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	764	Interaction with NAF1 (By similarity).|A20-type 7.				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(22)|p.A764fs*28(1)		haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)				D|N|F		marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma								---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146351044	146351044	+	Silent	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:146351044C>A	uc010khw.1	+	2	861	c.391C>A	c.(391-393)CGA>AGA	p.R131R	GRM1_uc010khu.1_Silent_p.R131R|GRM1_uc010khv.1_Silent_p.R131R|GRM1_uc003qll.2_Silent_p.R131R|GRM1_uc011edz.1_Silent_p.R131R|GRM1_uc011eea.1_Silent_p.R131R	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	131	Extracellular (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)													---	---	---	---
PLEKHG1	57480	broad.mit.edu	37	6	151054849	151054849	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151054849G>A	uc003qny.1	+	3	344	c.32G>A	c.(31-33)AGC>AAC	p.S11N	PLEKHG1_uc011eel.1_Missense_Mutation_p.S51N|PLEKHG1_uc011eem.1_Missense_Mutation_p.S70N|PLEKHG1_uc003qnz.2_Missense_Mutation_p.S11N	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	11					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)														---	---	---	---
C6orf211	79624	broad.mit.edu	37	6	151789994	151789994	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151789994G>A	uc003qok.1	+	5	1334	c.1075G>A	c.(1075-1077)GCA>ACA	p.A359T	C6orf211_uc011ees.1_Missense_Mutation_p.A240T	NM_024573	NP_078849	Q9H993	CF211_HUMAN	hypothetical protein LOC79624	359							protein binding				0			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)														---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152734552	152734552	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152734552T>G	uc010kiw.2	-	42	6767	c.6165A>C	c.(6163-6165)GAA>GAC	p.E2055D	SYNE1_uc003qot.3_Missense_Mutation_p.E2062D|SYNE1_uc003qou.3_Missense_Mutation_p.E2055D|SYNE1_uc010kjb.1_Missense_Mutation_p.E2038D	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2055	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)			---	---	---	---
TULP4	56995	broad.mit.edu	37	6	158900838	158900838	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:158900838C>T	uc003qrf.2	+	7	2439	c.1082C>T	c.(1081-1083)TCA>TTA	p.S361L	TULP4_uc011efo.1_Missense_Mutation_p.S361L|TULP4_uc003qrg.2_Missense_Mutation_p.S361L	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	361					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)														---	---	---	---
AGPAT4	56895	broad.mit.edu	37	6	161560486	161560486	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:161560486G>A	uc003qtr.1	-	8	1237	c.1010C>T	c.(1009-1011)ACG>ATG	p.T337M	AGPAT4_uc003qts.1_Missense_Mutation_p.T197M|AGPAT4_uc011egb.1_Missense_Mutation_p.T175M	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	337					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding				0		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)														---	---	---	---
C6orf118	168090	broad.mit.edu	37	6	165715715	165715715	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:165715715C>T	uc003qum.3	-	2	132	c.96G>A	c.(94-96)ACG>ACA	p.T32T	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	32											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)														---	---	---	---
GPR31	2853	broad.mit.edu	37	6	167570859	167570859	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:167570859T>C	uc011egq.1	-	1	461	c.461A>G	c.(460-462)GAG>GGG	p.E154G		NM_005299	NP_005290	O00270	GPR31_HUMAN	G protein-coupled receptor 31	154	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)														---	---	---	---
MLLT4	4301	broad.mit.edu	37	6	168289993	168289993	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:168289993G>A	uc003qwd.2	+	7	1135	c.993G>A	c.(991-993)TGG>TGA	p.W331*	MLLT4_uc003qwb.1_Nonsense_Mutation_p.W331*|MLLT4_uc003qwc.1_Nonsense_Mutation_p.W332*|MLLT4_uc003qwf.2_Nonsense_Mutation_p.W32*	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	332	Ras-associating 2.				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								---	---	---	---
TBP	6908	broad.mit.edu	37	6	170871061	170871061	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:170871061G>A	uc003qxt.2	+	3	469	c.237G>A	c.(235-237)CAG>CAA	p.Q79Q	TBP_uc003qxu.2_Silent_p.Q79Q|TBP_uc011ehf.1_Silent_p.Q59Q|TBP_uc011ehg.1_Silent_p.Q79Q	NM_003194	NP_003185	P20226	TBP_HUMAN	TATA box binding protein	79	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)														---	---	---	---
SUN1	23353	broad.mit.edu	37	7	883121	883121	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:883121G>A	uc011jvp.1	+	6	701	c.622G>A	c.(622-624)GTG>ATG	p.V208M	SUN1_uc010ksa.1_Missense_Mutation_p.V229M|SUN1_uc003sje.1_Missense_Mutation_p.V208M|SUN1_uc003sjf.2_Missense_Mutation_p.V158M|SUN1_uc011jvq.1_Intron|SUN1_uc003sjg.2_Missense_Mutation_p.V19M	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	208	Nuclear.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0																		---	---	---	---
GET4	51608	broad.mit.edu	37	7	926298	926298	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:926298G>A	uc003sjl.1	+						GET4_uc003sjj.1_Intron	NM_015949	NP_057033			hypothetical protein LOC51608						tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding				0																		---	---	---	---
INTS1	26173	broad.mit.edu	37	7	1511207	1511207	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1511207C>T	uc003skn.2	-	45	6356	c.6255G>A	c.(6253-6255)TCG>TCA	p.S2085S	INTS1_uc003skm.1_Silent_p.S222S	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	2085					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)														---	---	---	---
CARD11	84433	broad.mit.edu	37	7	2984023	2984023	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:2984023C>T	uc003smv.2	-	5	911	c.507G>A	c.(505-507)ACG>ACA	p.T169T		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	169	Potential.				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								---	---	---	---
KIAA0415	9907	broad.mit.edu	37	7	4823848	4823848	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4823848C>T	uc003sne.2	+	6	719	c.636C>T	c.(634-636)ACC>ACT	p.T212T	KIAA0415_uc010ksp.2_RNA	NM_014855	NP_055670	O43299	K0415_HUMAN	hypothetical protein LOC9907	212					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)														---	---	---	---
MIOS	54468	broad.mit.edu	37	7	7612723	7612723	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:7612723G>A	uc003srf.2	+	4	925	c.617G>A	c.(616-618)CGT>CAT	p.R206H	MIOS_uc010ktp.1_Missense_Mutation_p.R206H	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog	206	WD 3.										0																		---	---	---	---
TMEM106B	54664	broad.mit.edu	37	7	12263918	12263918	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:12263918T>C	uc011jxk.1	+	5	748	c.348T>C	c.(346-348)CTT>CTC	p.L116L	TMEM106B_uc003ssh.2_Silent_p.L116L	NM_018374	NP_060844	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	116	Helical; (Potential).					integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)														---	---	---	---
TMEM195	392636	broad.mit.edu	37	7	15601339	15601339	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:15601339T>C	uc003stb.1	-							NM_001004320	NP_001004320			transmembrane protein 195						ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0																		---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21640745	21640745	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:21640745A>G	uc003svc.2	+	17	3404	c.3373A>G	c.(3373-3375)AAG>GAG	p.K1125E		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1125	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				---	---	---	---
SKAP2	8935	broad.mit.edu	37	7	26729927	26729927	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:26729927T>C	uc003syc.2	-	10	1144	c.851A>G	c.(850-852)CAG>CGG	p.Q284R	SKAP2_uc011jzi.1_Missense_Mutation_p.Q112R|SKAP2_uc011jzj.1_Missense_Mutation_p.Q269R	NM_003930	NP_003921	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	284					B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			pancreas(1)	1																		---	---	---	---
HOXA1	3198	broad.mit.edu	37	7	27134370	27134370	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:27134370G>A	uc003sye.2	-	2	791	c.697C>T	c.(697-699)CGC>TGC	p.R233C	HOXA1_uc003syd.2_3'UTR|uc003syg.2_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	homeobox A1 isoform a	233	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)	3																		---	---	---	---
ADCY1	107	broad.mit.edu	37	7	45699707	45699707	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45699707C>T	uc003tne.3	+	7	1392	c.1374C>T	c.(1372-1374)TAC>TAT	p.Y458Y	ADCY1_uc003tnd.2_Silent_p.Y233Y	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	458	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	45725766	45725766	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45725766C>T	uc003tne.3	+	13	2297	c.2279C>T	c.(2278-2280)ACC>ATC	p.T760I		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	760	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 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)													---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48285466	48285466	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48285466G>A	uc003toq.2	+	13	1523	c.1498G>A	c.(1498-1500)GCG>ACG	p.A500T	ABCA13_uc010kyr.2_Missense_Mutation_p.A3T	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	500					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10																		---	---	---	---
ASL	435	broad.mit.edu	37	7	65547883	65547883	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:65547883C>T	uc003tuo.2	+	5	419	c.308C>T	c.(307-309)ACG>ATG	p.T103M	ASL_uc011kdu.1_Missense_Mutation_p.T103M|ASL_uc010kzx.1_Missense_Mutation_p.T103M|ASL_uc011kdv.1_Missense_Mutation_p.T103M|ASL_uc003tup.2_Missense_Mutation_p.T103M|ASL_uc003tur.2_Missense_Mutation_p.T103M|ASL_uc003tuq.2_Missense_Mutation_p.T103M	NM_000048	NP_000039	P04424	ARLY_HUMAN	argininosuccinate lyase isoform 1	103					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(2)	2					L-Arginine(DB00125)													---	---	---	---
LIMK1	3984	broad.mit.edu	37	7	73513447	73513447	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73513447G>A	uc003uaa.1	+	5	652	c.487G>A	c.(487-489)GTC>ATC	p.V163I	RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Missense_Mutation_p.V129I|LIMK1_uc003uac.1_5'UTR	NM_002314	NP_002305	P53667	LIMK1_HUMAN	LIM domain kinase 1	163					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)																---	---	---	---
CD36	948	broad.mit.edu	37	7	80285858	80285858	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:80285858A>C	uc003uhc.2	+	7	807	c.123A>C	c.(121-123)CAA>CAC	p.Q41H	CD36_uc003uhd.3_Missense_Mutation_p.Q41H|CD36_uc011kgv.1_5'UTR|CD36_uc003uhe.3_Missense_Mutation_p.Q41H|CD36_uc003uhf.3_Missense_Mutation_p.Q41H|CD36_uc003uhg.3_Missense_Mutation_p.Q41H|CD36_uc003uhh.3_Missense_Mutation_p.Q41H	NM_001127444	NP_001120916	P16671	CD36_HUMAN	CD36 antigen	41	Extracellular (Potential).				cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			ovary(1)	1																		---	---	---	---
ABCB4	5244	broad.mit.edu	37	7	87073079	87073079	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87073079A>T	uc003uiv.1	-	11	1206	c.1130T>A	c.(1129-1131)ATT>AAT	p.I377N	ABCB4_uc003uiw.1_Missense_Mutation_p.I377N|ABCB4_uc003uix.1_Missense_Mutation_p.I377N	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	377	Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)																	---	---	---	---
PTCD1	26024	broad.mit.edu	37	7	99022445	99022445	+	Silent	SNP	G	A	A	rs142516229		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99022445G>A	uc003uqh.2	-	6	1841	c.1710C>T	c.(1708-1710)GAC>GAT	p.D570D	PTCD1_uc011kiw.1_Silent_p.D619D	NM_015545	NP_056360	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	570	PPR 8.									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	99048427	99048427	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99048427C>T	uc011kiw.1	-						CPSF4_uc003uqi.2_Intron|CPSF4_uc003uqj.2_Intron|CPSF4_uc003uqk.2_Intron|CPSF4_uc011kix.1_Intron	NM_015545	NP_056360			pentatricopeptide repeat domain 1											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)															---	---	---	---
ZKSCAN1	7586	broad.mit.edu	37	7	99630923	99630923	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99630923G>A	uc003usk.1	+						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	99955941	99955941	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99955941C>T	uc003uuk.2	+	15	2512	c.16C>T	c.(16-18)CTG>TTG	p.L6L	PILRB_uc003uul.2_Silent_p.L6L|PILRB_uc003uum.1_RNA|PILRB_uc003uun.2_Silent_p.L6L	NM_013440	NP_038468	Q9UKJ0	PILRB_HUMAN	paired immunoglobulin-like type 2 receptor beta	6					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)																	---	---	---	---
MEPCE	56257	broad.mit.edu	37	7	100028470	100028470	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100028470G>A	uc003uuw.2	+	1	942	c.829G>A	c.(829-831)GGA>AGA	p.G277R	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	277							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	100085812	100085812	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100085812C>T	uc003uvd.1	+	4	627	c.468C>T	c.(466-468)AGC>AGT	p.S156S	C7orf51_uc003uve.1_5'UTR	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	156										skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100391438	100391438	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100391438G>A	uc003uwj.2	+						ZAN_uc003uwk.2_Intron|ZAN_uc003uwl.2_Intron|ZAN_uc010lhh.2_Intron|ZAN_uc010lhi.2_Intron|ZAN_uc011kke.1_Intron	NM_003386	NP_003377			zonadhesin isoform 3						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)															---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100678887	100678887	+	Missense_Mutation	SNP	C	T	T	rs141608296		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100678887C>T	uc003uxp.1	+	3	4243	c.4190C>T	c.(4189-4191)CCG>CTG	p.P1397L	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1397	Extracellular (Potential).|59 X approximate tandem repeats.|21.|Ser-rich.					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	100732016	100732016	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100732016A>C	uc003uxq.2	+	3	1654	c.1423A>C	c.(1423-1425)AGC>CGC	p.S475R	TRIM56_uc003uxr.2_Intron	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	tripartite motif-containing 56	475					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)																	---	---	---	---
VGF	7425	broad.mit.edu	37	7	100807605	100807605	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100807605C>T	uc003uxx.3	-	2	738	c.520G>A	c.(520-522)GCC>ACC	p.A174T		NM_003378	NP_003369	O15240	VGF_HUMAN	VGF nerve growth factor inducible precursor	174					response to cAMP	extracellular space|transport vesicle	growth factor activity				0	Lung NSC(181;0.168)|all_lung(186;0.215)																	---	---	---	---
ALKBH4	54784	broad.mit.edu	37	7	102098052	102098052	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:102098052G>A	uc003uzl.2	-	3	703	c.698C>T	c.(697-699)GCC>GTC	p.A233V	ALKBH4_uc003uzm.2_Missense_Mutation_p.A160V	NM_017621	NP_060091	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4	233						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0																		---	---	---	---
DNAJC2	27000	broad.mit.edu	37	7	102982389	102982389	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:102982389C>T	uc003vbo.2	-	2	328	c.77G>A	c.(76-78)TGT>TAT	p.C26Y	DNAJC2_uc003vbn.2_5'UTR|DNAJC2_uc010lix.2_Missense_Mutation_p.C26Y|DNAJC2_uc003vbp.2_Intron|DNAJC2_uc003vbq.1_RNA|DNAJC2_uc003vbr.1_Missense_Mutation_p.C26Y	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	26	Epitope (recognized by CD8(+) cytotoxic T-lymphocytes).				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			kidney(1)	1																		---	---	---	---
PSMC2	5701	broad.mit.edu	37	7	103004675	103004675	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:103004675C>T	uc003vbs.2	+	8	747	c.677C>T	c.(676-678)GCG>GTG	p.A226V	SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.A89V	NM_002803	NP_002794	P35998	PRS7_HUMAN	proteasome 26S ATPase subunit 2	226					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	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0																		---	---	---	---
RELN	5649	broad.mit.edu	37	7	103293021	103293021	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:103293021A>G	uc003vca.2	-	14	1900	c.1740T>C	c.(1738-1740)TGT>TGC	p.C580C	RELN_uc010liz.2_Silent_p.C580C	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	580					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)														---	---	---	---
PUS7	54517	broad.mit.edu	37	7	105148756	105148756	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:105148756C>T	uc003vcx.2	-	2	423	c.204G>A	c.(202-204)GGG>GGA	p.G68G	PUS7_uc010lji.2_Silent_p.G68G|PUS7_uc003vcy.2_Silent_p.G68G|PUS7_uc003vcz.1_Silent_p.G68G	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog	68					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)	1																		---	---	---	---
LAMB1	3912	broad.mit.edu	37	7	107616128	107616128	+	Intron	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107616128A>G	uc003vew.2	-						LAMB1_uc003vev.2_Intron|LAMB1_uc003vex.2_Intron|LAMB1_uc010ljn.1_Intron	NM_002291	NP_002282			laminin, beta 1 precursor						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	107738955	107738955	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107738955G>A	uc010ljo.1	-	11	1337	c.1253C>T	c.(1252-1254)TCT>TTT	p.S418F	LAMB4_uc003vey.2_Missense_Mutation_p.S418F	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	418	Laminin EGF-like 3.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8																		---	---	---	---
TMEM168	64418	broad.mit.edu	37	7	112423832	112423832	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:112423832C>T	uc003vgn.2	-	2	1441	c.1049G>A	c.(1048-1050)CGC>CAC	p.R350H	TMEM168_uc010lju.2_Missense_Mutation_p.R350H|TMEM168_uc011kmr.1_Intron	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN	transmembrane protein 168	350						integral to membrane|transport vesicle				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
C7orf60	154743	broad.mit.edu	37	7	112555379	112555379	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:112555379C>T	uc003vgo.1	-	2	411	c.284G>A	c.(283-285)CGT>CAT	p.R95H	C7orf60_uc011kms.1_Missense_Mutation_p.R121H	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	hypothetical protein LOC154743	95										ovary(2)|skin(1)	3																		---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113558541	113558541	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:113558541C>G	uc010ljy.1	-	1	542	c.511G>C	c.(511-513)GAC>CAC	p.D171H		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	171	CBM21.				glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34																		---	---	---	---
ANKRD7	56311	broad.mit.edu	37	7	117874902	117874902	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:117874902G>A	uc003vji.2	+	3	615	c.442G>A	c.(442-444)GAA>AAA	p.E148K		NM_019644	NP_062618	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	148	ANK 3.				male gonad development						0																		---	---	---	---
PTPRZ1	5803	broad.mit.edu	37	7	121637927	121637927	+	Intron	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121637927C>A	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																		---	---	---	---
PTPRZ1	5803	broad.mit.edu	37	7	121679626	121679626	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121679626A>C	uc003vjy.2	+	20	6016	c.5621A>C	c.(5620-5622)AAC>ACC	p.N1874T	PTPRZ1_uc003vjz.2_Missense_Mutation_p.N1007T|PTPRZ1_uc011knt.1_Missense_Mutation_p.N464T	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1874	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				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																		---	---	---	---
SMO	6608	broad.mit.edu	37	7	128850231	128850231	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128850231G>A	uc003vor.2	+	9	1774	c.1494G>A	c.(1492-1494)CTG>CTA	p.L498L	SMO_uc003vos.2_Silent_p.L173L	NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	498	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 						OREG0018305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131982977	131982977	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:131982977C>T	uc003vra.3	-	4	1605	c.1376G>A	c.(1375-1377)CGG>CAG	p.R459Q		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	459	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1																		---	---	---	---
ZC3HAV1L	92092	broad.mit.edu	37	7	138713581	138713581	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138713581C>T	uc003vum.1	-	3	639	c.627G>A	c.(625-627)CGG>CGA	p.R209R		NM_080660	NP_542391	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	209											0																		---	---	---	---
TBXAS1	6916	broad.mit.edu	37	7	139611034	139611034	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:139611034G>T	uc011kqv.1	+	4	414	c.250G>T	c.(250-252)GGT>TGT	p.G84C	TBXAS1_uc003vvh.2_Missense_Mutation_p.G84C|TBXAS1_uc010lne.2_Missense_Mutation_p.G16C|TBXAS1_uc011kqu.1_Missense_Mutation_p.G35C|TBXAS1_uc003vvi.2_Missense_Mutation_p.G84C|TBXAS1_uc003vvj.2_Missense_Mutation_p.G84C|TBXAS1_uc011kqw.1_Missense_Mutation_p.G64C|TBXAS1_uc011kqx.1_Missense_Mutation_p.G84C	NM_001130966	NP_001124438	P24557	THAS_HUMAN	thromboxane A synthase 1, platelet isoform	83	Helical; (Potential).				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			ovary(2)|breast(1)	3	Melanoma(164;0.0142)																	---	---	---	---
NDUFB2	4708	broad.mit.edu	37	7	140402766	140402766	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:140402766T>C	uc003vwa.2	+	2	263	c.199T>C	c.(199-201)TTC>CTC	p.F67L	NDUFB2_uc010lnl.2_RNA	NM_004546	NP_004537	O95178	NDUB2_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	67					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			ovary(1)|central_nervous_system(1)	2	Melanoma(164;0.00956)				NADH(DB00157)													---	---	---	---
TAS2R3	50831	broad.mit.edu	37	7	141464526	141464526	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141464526C>T	uc003vwp.1	+	1	630	c.568C>T	c.(568-570)CTG>TTG	p.L190L		NM_016943	NP_058639	Q9NYW6	TA2R3_HUMAN	taste receptor T2R3	190	Helical; Name=5; (Potential).				sensory perception of taste		taste receptor activity			central_nervous_system(1)	1	Melanoma(164;0.0171)																	---	---	---	---
TAS2R4	50832	broad.mit.edu	37	7	141478798	141478798	+	Silent	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141478798C>A	uc003vwq.1	+	1	510	c.510C>A	c.(508-510)ATC>ATA	p.I170I		NM_016944	NP_058640	Q9NYW5	TA2R4_HUMAN	taste receptor T2R4	170	Extracellular (Potential).				sensory perception of taste	cilium membrane	taste receptor activity				0	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)														---	---	---	---
TRPV5	56302	broad.mit.edu	37	7	142605706	142605706	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142605706C>T	uc003wby.1	-	15	2428	c.2164G>A	c.(2164-2166)GAT>AAT	p.D722N		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	722	Cytoplasmic (Potential).|Involved in Ca(2+)-dependent inactivation (By similarity).				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)																	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149502667	149502667	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149502667G>A	uc010lpk.2	+	58	8480	c.8480G>A	c.(8479-8481)TGC>TAC	p.C2827Y		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	2827	TSP type-1 7.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)															---	---	---	---
GBX1	2636	broad.mit.edu	37	7	150846112	150846112	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150846112A>G	uc011kvg.1	-	2	888	c.656T>C	c.(655-657)CTG>CCG	p.L219P		NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	gastrulation brain homeo box 1	219						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---
GALNT11	63917	broad.mit.edu	37	7	151800311	151800311	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151800311G>A	uc010lqg.1	+	4	764	c.534G>A	c.(532-534)ACG>ACA	p.T178T	GALNT11_uc011kvm.1_Silent_p.T97T|GALNT11_uc003wku.2_Silent_p.T178T|GALNT11_uc003wkv.1_Silent_p.T178T|GALNT11_uc011kvn.1_RNA	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	N-acetylgalactosaminyltransferase 11	178	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)														---	---	---	---
GALNT11	63917	broad.mit.edu	37	7	151805218	151805218	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151805218G>A	uc010lqg.1	+	6	1038	c.808G>A	c.(808-810)GTG>ATG	p.V270M	GALNT11_uc011kvm.1_Missense_Mutation_p.V189M|GALNT11_uc003wku.2_Missense_Mutation_p.V270M|GALNT11_uc011kvn.1_RNA|GALNT11_uc003wkw.1_Missense_Mutation_p.V18M	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	N-acetylgalactosaminyltransferase 11	270	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)														---	---	---	---
MLL3	58508	broad.mit.edu	37	7	151845212	151845212	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151845212G>A	uc003wla.2	-	52	14019	c.13800C>T	c.(13798-13800)TGC>TGT	p.C4600C	MLL3_uc003wkz.2_Silent_p.C3718C|MLL3_uc003wkx.2_Silent_p.C758C|MLL3_uc003wky.2_Silent_p.C2164C	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	4600	FYR N-terminal.				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								---	---	---	---
CLN8	2055	broad.mit.edu	37	8	1728566	1728566	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:1728566A>C	uc003wpo.3	+	3	999	c.694A>C	c.(694-696)ACA>CCA	p.T232P		NM_018941	NP_061764	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8	232	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)														---	---	---	---
PPP1R3B	79660	broad.mit.edu	37	8	8998807	8998807	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:8998807C>T	uc003wsn.3	-	2	520	c.355G>A	c.(355-357)GCA>ACA	p.A119T	PPP1R3B_uc003wso.3_Missense_Mutation_p.A118T	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory (inhibitor)	119					glycogen metabolic process					ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)														---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10470612	10470612	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10470612G>A	uc003wtc.2	-	4	1225	c.996C>T	c.(994-996)GTC>GTT	p.V332V		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	332					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)														---	---	---	---
LONRF1	91694	broad.mit.edu	37	8	12594548	12594548	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:12594548C>A	uc003wwd.1	-	5	1278	c.1215G>T	c.(1213-1215)GAG>GAT	p.E405D	LONRF1_uc011kxv.1_Missense_Mutation_p.E5D|LONRF1_uc010lsp.1_Missense_Mutation_p.E5D	NM_152271	NP_689484	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger	405					proteolysis		ATP-dependent peptidase activity|zinc ion binding			ovary(1)	1				READ - Rectum adenocarcinoma(644;0.236)														---	---	---	---
PCM1	5108	broad.mit.edu	37	8	17817868	17817868	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17817868T>C	uc003wyi.3	+	15	2659	c.2237T>C	c.(2236-2238)CTA>CCA	p.L746P	PCM1_uc011kyh.1_Missense_Mutation_p.L746P|PCM1_uc003wyj.3_Missense_Mutation_p.L747P	NM_006197	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	746	Potential.				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								---	---	---	---
NAT2	10	broad.mit.edu	37	8	18257800	18257800	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:18257800C>T	uc003wyw.1	+	2	394	c.287C>T	c.(286-288)CCT>CTT	p.P96L		NM_000015	NP_000006	P11245	ARY2_HUMAN	N-acetyltransferase 2	96					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			ovary(1)|skin(1)	2				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)										Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				---	---	---	---
LZTS1	11178	broad.mit.edu	37	8	20107417	20107417	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:20107417T>G	uc003wzr.2	-	3	1718	c.1607A>C	c.(1606-1608)AAG>ACG	p.K536T	LZTS1_uc010ltg.1_Missense_Mutation_p.K477T	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	536					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)														---	---	---	---
LZTS1	11178	broad.mit.edu	37	8	20110667	20110667	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:20110667C>A	uc003wzr.2	-	2	886	c.775G>T	c.(775-777)GAC>TAC	p.D259Y	LZTS1_uc010ltg.1_Missense_Mutation_p.D259Y	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	259	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)														---	---	---	---
GFRA2	2675	broad.mit.edu	37	8	21608373	21608373	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:21608373C>T	uc003wzu.1	-	4	1196	c.521G>A	c.(520-522)TGC>TAC	p.C174Y	GFRA2_uc003wzv.1_Missense_Mutation_p.C69Y|GFRA2_uc003wzw.1_Missense_Mutation_p.C41Y|DOK2_uc003wzx.1_Intron	NM_001495	NP_001486	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2 isoform a	174						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity				0				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)														---	---	---	---
HR	55806	broad.mit.edu	37	8	21985114	21985114	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:21985114C>T	uc003xas.2	-	3	1506	c.841G>A	c.(841-843)GCT>ACT	p.A281T	HR_uc003xat.2_Missense_Mutation_p.A281T	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	281							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)														---	---	---	---
BMP1	649	broad.mit.edu	37	8	22066962	22066962	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22066962C>T	uc003xbg.2	+	19	2824	c.2580C>T	c.(2578-2580)TGC>TGT	p.C860C	BMP1_uc011kzc.1_Silent_p.C609C|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	NM_006129	NP_006120	P13497	BMP1_HUMAN	bone morphogenetic protein 1 isoform 3	860	CUB 5.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)	3				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)														---	---	---	---
KIAA1967	57805	broad.mit.edu	37	8	22473348	22473348	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22473348G>A	uc003xch.2	+	13	1668	c.1531G>A	c.(1531-1533)GCA>ACA	p.A511T	KIAA1967_uc003xci.2_Missense_Mutation_p.A511T|KIAA1967_uc003xcj.1_Missense_Mutation_p.A180T	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	511					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)														---	---	---	---
LOXL2	4017	broad.mit.edu	37	8	23174526	23174526	+	Silent	SNP	G	A	A	rs142665521	byFrequency	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:23174526G>A	uc003xdh.1	-	9	1911	c.1572C>T	c.(1570-1572)GAC>GAT	p.D524D	LOXL2_uc010lty.1_Silent_p.D63D	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	524	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)														---	---	---	---
NEFM	4741	broad.mit.edu	37	8	24771399	24771399	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:24771399G>A	uc003xed.3	+	1	126	c.93G>A	c.(91-93)CCG>CCA	p.P31P	NEFM_uc011lac.1_Silent_p.P31P|NEFM_uc010lue.2_5'Flank|uc010luc.1_3'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	31	Head.					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)														---	---	---	---
TRIM35	23087	broad.mit.edu	37	8	27145310	27145310	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27145310C>T	uc003xfl.1	-	6	1321	c.1239G>A	c.(1237-1239)TCG>TCA	p.S413S	TRIM35_uc010lup.1_3'UTR	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	tripartite motif-containing 35 isoform 2	413	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding				0		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)														---	---	---	---
ZNF395	55893	broad.mit.edu	37	8	28218564	28218564	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:28218564C>A	uc003xgq.2	-	2	166	c.78G>T	c.(76-78)GAG>GAT	p.E26D	ZNF395_uc003xgt.2_Missense_Mutation_p.E26D|ZNF395_uc003xgr.2_Missense_Mutation_p.E26D|ZNF395_uc003xgs.2_Missense_Mutation_p.E26D	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	26					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)														---	---	---	---
INTS9	55756	broad.mit.edu	37	8	28625830	28625830	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:28625830T>C	uc003xha.2	-	17	2109	c.1810A>G	c.(1810-1812)AGT>GGT	p.S604G	INTS9_uc011lav.1_Missense_Mutation_p.S580G|INTS9_uc011law.1_Missense_Mutation_p.S583G|INTS9_uc011lax.1_Missense_Mutation_p.S497G|INTS9_uc010lvc.2_RNA	NM_018250	NP_060720	Q9NV88	INT9_HUMAN	integrator complex subunit 9 isoform 1	604					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	29005051	29005051	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:29005051G>A	uc003xhh.3	-	17	1941	c.1882C>T	c.(1882-1884)CGC>TGC	p.R628C	KIF13B_uc003xhj.2_Missense_Mutation_p.R525C	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	628	Potential.				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	30404799	30404799	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30404799T>C	uc003xic.1	+						RBPMS_uc003xid.1_Intron|RBPMS_uc003xie.1_Intron|RBPMS_uc003xif.1_Intron|RBPMS_uc003xib.2_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)												OREG0018694	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
WRN	7486	broad.mit.edu	37	8	30958372	30958372	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30958372G>A	uc003xio.3	+	18	2777	c.1989G>A	c.(1987-1989)ACG>ACA	p.T663T	WRN_uc010lvk.2_Silent_p.T130T	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	663	Helicase ATP-binding.				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				---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35579836	35579836	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:35579836A>G	uc003xjr.1	+	9	1554	c.1226A>G	c.(1225-1227)GAC>GGC	p.D409G	UNC5D_uc003xjs.1_Missense_Mutation_p.D404G|UNC5D_uc003xju.1_5'Flank|UNC5D_uc003xjt.1_Missense_Mutation_p.D167G	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	409	Cytoplasmic (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)														---	---	---	---
RAB11FIP1	80223	broad.mit.edu	37	8	37730005	37730005	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:37730005G>A	uc003xkm.1	-	4	2359	c.2315C>T	c.(2314-2316)GCG>GTG	p.A772V	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.A101V|RAB11FIP1_uc003xko.1_Missense_Mutation_p.A101V|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	772					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)															---	---	---	---
IKBKB	3551	broad.mit.edu	37	8	42175289	42175289	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42175289C>T	uc003xow.1	+	12	1417	c.1240C>T	c.(1240-1242)CTT>TTT	p.L414F	IKBKB_uc010lxh.1_Missense_Mutation_p.L309F|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Missense_Mutation_p.L191F|IKBKB_uc003xox.1_Missense_Mutation_p.L135F|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Missense_Mutation_p.L412F|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.L355F	NM_001556	NP_001547	O14920	IKKB_HUMAN	inhibitor of nuclear factor kappa B kinase beta	414					anti-apoptosis|innate immune response|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 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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(3)|ovary(2)|lung(1)|skin(1)	7	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)													---	---	---	---
HOOK3	84376	broad.mit.edu	37	8	42837826	42837826	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42837826A>G	uc003xpr.2	+	14	1620	c.1378A>G	c.(1378-1380)ACA>GCA	p.T460A	HOOK3_uc010lxq.1_Missense_Mutation_p.T460A	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	golgi-associated microtubule-binding protein	460					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	48825009	48825009	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48825009C>T	uc003xqi.2	-	25	2952	c.2895G>A	c.(2893-2895)ACG>ACA	p.T965T	PRKDC_uc003xqj.2_Silent_p.T965T|PRKDC_uc011ldh.1_Silent_p.T965T	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	965					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					---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52721799	52721799	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:52721799G>A	uc003xqu.3	-	1	207	c.106C>T	c.(106-108)CGC>TGC	p.R36C		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	36	LRRNT.				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)																---	---	---	---
RP1	6101	broad.mit.edu	37	8	55540178	55540178	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:55540178G>A	uc003xsd.1	+	4	3884	c.3736G>A	c.(3736-3738)GCC>ACC	p.A1246T	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1246					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	55540519	55540519	+	Silent	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:55540519T>G	uc003xsd.1	+	4	4225	c.4077T>G	c.(4075-4077)ACT>ACG	p.T1359T	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1359					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)															---	---	---	---
TOX	9760	broad.mit.edu	37	8	59728047	59728047	+	Silent	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:59728047A>C	uc003xtw.1	-	7	1463	c.1242T>G	c.(1240-1242)GCT>GCG	p.A414A		NM_014729	NP_055544	O94900	TOX_HUMAN	thymus high mobility group box protein TOX	414						nucleus	DNA binding			kidney(2)|lung(1)|skin(1)	4		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)																---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61765914	61765914	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:61765914G>T	uc003xue.2	+	31	7107	c.6630G>T	c.(6628-6630)GAG>GAT	p.E2210D		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2210	Glu-rich.				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)															---	---	---	---
PDE7A	5150	broad.mit.edu	37	8	66639191	66639191	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:66639191A>G	uc003xvq.2	-	9	851	c.839T>C	c.(838-840)GTA>GCA	p.V280A	PDE7A_uc003xvr.2_Missense_Mutation_p.V280A|PDE7A_uc003xvp.2_Missense_Mutation_p.V254A	NM_002604	NP_002595	Q13946	PDE7A_HUMAN	phosphodiesterase 7A isoform b	280	Catalytic (By similarity).					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)													---	---	---	---
UBE2W	55284	broad.mit.edu	37	8	74722818	74722818	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:74722818C>A	uc003xzv.2	-	4	310	c.257G>T	c.(256-258)AGC>ATC	p.S86I	UBE2W_uc003xzt.2_Missense_Mutation_p.S86I|UBE2W_uc003xzu.2_Missense_Mutation_p.S97I|UBE2W_uc003xzw.2_RNA	NM_018299	NP_060769	Q96B02	UBE2W_HUMAN	ubiquitin-conjugating enzyme E2W (putative)	86					protein K11-linked ubiquitination|protein monoubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity				0	Breast(64;0.0311)		Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)															---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89198805	89198805	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:89198805C>T	uc003yeb.3	-	3	586	c.304G>A	c.(304-306)GGT>AGT	p.G102S	MMP16_uc003yec.2_Missense_Mutation_p.G102S	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	102	Cysteine switch (By similarity).				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																		---	---	---	---
CALB1	793	broad.mit.edu	37	8	91078155	91078155	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:91078155T>C	uc003yel.1	-	6	603	c.421A>G	c.(421-423)ACA>GCA	p.T141A	CALB1_uc011lge.1_Missense_Mutation_p.T84A	NM_004929	NP_004920	P05937	CALB1_HUMAN	calbindin 1	141						nucleus	calcium ion binding|vitamin D binding			pancreas(1)	1			BRCA - Breast invasive adenocarcinoma(11;0.00953)															---	---	---	---
GDF6	392255	broad.mit.edu	37	8	97157037	97157037	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:97157037C>T	uc003yhp.2	-	2	1222	c.1122G>A	c.(1120-1122)GCG>GCA	p.A374A		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	374					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)																	---	---	---	---
TSPYL5	85453	broad.mit.edu	37	8	98289908	98289908	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:98289908A>G	uc003yhy.2	-	1	269	c.165T>C	c.(163-165)GCT>GCC	p.A55A		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	TSPY-like 5	55					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			large_intestine(1)|ovary(1)	2	Breast(36;2.56e-06)																	---	---	---	---
POP1	10940	broad.mit.edu	37	8	99168525	99168525	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99168525G>A	uc003yij.3	+	15	2405	c.2305G>A	c.(2305-2307)GCA>ACA	p.A769T	POP1_uc011lgv.1_Missense_Mutation_p.A769T|POP1_uc003yik.2_Missense_Mutation_p.A769T	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	769					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)															---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100523683	100523683	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:100523683A>G	uc003yiv.2	+	29	4762	c.4651A>G	c.(4651-4653)ACA>GCA	p.T1551A	VPS13B_uc003yiw.2_Missense_Mutation_p.T1526A|VPS13B_uc003yix.1_Missense_Mutation_p.T1021A	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	1551					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	101076163	101076163	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:101076163A>C	uc003yjb.1	-	8	1028	c.833T>G	c.(832-834)GTG>GGG	p.V278G	RGS22_uc003yja.1_Missense_Mutation_p.V97G|RGS22_uc003yjc.1_Missense_Mutation_p.V266G|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	278					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)															---	---	---	---
PABPC1	26986	broad.mit.edu	37	8	101733798	101733798	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:101733798G>A	uc003yjs.1	-	1	518	c.14C>T	c.(13-15)GCC>GTC	p.A5V	PABPC1_uc011lhc.1_Missense_Mutation_p.A5V|PABPC1_uc011lhd.1_Intron|PABPC1_uc003yjt.1_Missense_Mutation_p.A5V|PABPC1_uc003yju.2_RNA	NM_002568	NP_002559	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	5					mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity				0	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)															---	---	---	---
GRHL2	79977	broad.mit.edu	37	8	102631937	102631937	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:102631937T>C	uc010mbu.2	+							NM_024915	NP_079191			transcription factor CP2-like 3							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)															---	---	---	---
NCALD	83988	broad.mit.edu	37	8	102731832	102731832	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:102731832C>T	uc003yke.2	-	2	395	c.26G>A	c.(25-27)CGC>CAC	p.R9H	NCALD_uc003ykf.2_Missense_Mutation_p.R9H|NCALD_uc003ykg.2_Missense_Mutation_p.R9H|NCALD_uc003ykh.2_Missense_Mutation_p.R9H|NCALD_uc003yki.2_Missense_Mutation_p.R9H|NCALD_uc003ykj.2_Missense_Mutation_p.R9H|NCALD_uc003ykk.2_Missense_Mutation_p.R9H|NCALD_uc003ykl.2_Missense_Mutation_p.R9H	NM_032041	NP_114430	P61601	NCALD_HUMAN	neurocalcin delta	9					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)															---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	105010452	105010452	+	Silent	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:105010452C>A	uc003yls.2	+	16	2659	c.2418C>A	c.(2416-2418)ACC>ACA	p.T806T	RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Silent_p.T820T|RIMS2_uc003ylq.2_Silent_p.T820T|RIMS2_uc003ylr.2_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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)			---	---	---	---
NUDCD1	84955	broad.mit.edu	37	8	110308619	110308619	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110308619T>A	uc003ynb.3	-	3	564	c.453A>T	c.(451-453)AAA>AAT	p.K151N	NUDCD1_uc003yna.2_Missense_Mutation_p.K122N|NUDCD1_uc010mcl.2_Missense_Mutation_p.K64N|NUDCD1_uc010mcm.1_Missense_Mutation_p.K64N	NM_032869	NP_116258	Q96RS6	NUDC1_HUMAN	NudC domain containing 1 isoform 1	151										ovary(1)|breast(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)															---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113657441	113657441	+	Silent	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113657441T>G	uc003ynu.2	-	20	3366	c.3207A>C	c.(3205-3207)GGA>GGC	p.G1069G	CSMD3_uc003yns.2_Silent_p.G341G|CSMD3_uc003ynt.2_Silent_p.G1029G|CSMD3_uc011lhx.1_Silent_p.G965G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1069	Extracellular (Potential).|CUB 6.					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	113966979	113966979	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113966979T>C	uc003ynu.2	-	8	1513	c.1354A>G	c.(1354-1356)ATA>GTA	p.I452V	CSMD3_uc003ynt.2_Missense_Mutation_p.I412V|CSMD3_uc011lhx.1_Missense_Mutation_p.I348V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	452	Extracellular (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)			---	---	---	---
COLEC10	10584	broad.mit.edu	37	8	120114599	120114599	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:120114599A>G	uc003yoo.2	+	4	402	c.305A>G	c.(304-306)GAA>GGA	p.E102G		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 precursor	102	Collagen-like.					collagen|cytoplasm	mannose binding	p.E102K(1)		ovary(2)|skin(1)	3	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)															---	---	---	---
FBXO32	114907	broad.mit.edu	37	8	124544175	124544175	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124544175G>A	uc003yqr.2	-	4	527	c.335C>T	c.(334-336)GCC>GTC	p.A112V	FBXO32_uc003yqq.2_5'UTR|FBXO32_uc010mdk.2_Missense_Mutation_p.A112V	NM_058229	NP_478136	Q969P5	FBX32_HUMAN	F-box only protein 32 isoform 1	112										skin(3)|breast(2)|lung(1)	6	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)															---	---	---	---
FAM91A1	157769	broad.mit.edu	37	8	124797903	124797903	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124797903C>T	uc003yqv.2	+	11	945	c.884C>T	c.(883-885)GCC>GTC	p.A295V	FAM91A1_uc011lik.1_Missense_Mutation_p.A295V|FAM91A1_uc011lil.1_Missense_Mutation_p.A53V	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	295										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)															---	---	---	---
NSMCE2	286053	broad.mit.edu	37	8	126114681	126114681	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:126114681G>T	uc003yrw.2	+	3	337	c.109G>T	c.(109-111)GGT>TGT	p.G37C	NSMCE2_uc003yrv.2_Missense_Mutation_p.G37C	NM_173685	NP_775956	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog	37					DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding			breast(1)	1	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)															---	---	---	---
EFR3A	23167	broad.mit.edu	37	8	132952816	132952816	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:132952816T>C	uc003yte.2	+	2	282	c.81T>C	c.(79-81)GAT>GAC	p.D27D		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	EFR3 homolog A	27						plasma membrane	binding			ovary(3)|breast(1)|central_nervous_system(1)	5	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)															---	---	---	---
KHDRBS3	10656	broad.mit.edu	37	8	136569807	136569807	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:136569807T>C	uc003yuv.2	+	5	982	c.588T>C	c.(586-588)GGT>GGC	p.G196G	KHDRBS3_uc003yuw.2_Silent_p.G196G	NM_006558	NP_006549	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal	196					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			ovary(2)	2	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)															---	---	---	---
DENND3	22898	broad.mit.edu	37	8	142160929	142160929	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:142160929G>A	uc003yvy.2	+						DENND3_uc010mep.2_Intron	NM_014957	NP_055772			DENN/MADD domain containing 3											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)															---	---	---	---
DENND3	22898	broad.mit.edu	37	8	142199100	142199100	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:142199100G>A	uc003yvy.2	+	19	3138	c.2860G>A	c.(2860-2862)GCC>ACC	p.A954T	DENND3_uc010mep.2_Missense_Mutation_p.A915T|DENND3_uc003ywa.1_Missense_Mutation_p.A4T|DENND3_uc003ywb.2_Missense_Mutation_p.A4T	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	954										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)															---	---	---	---
GPR20	2843	broad.mit.edu	37	8	142367165	142367165	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:142367165T>C	uc003ywf.2	-	2	948	c.859A>G	c.(859-861)AGC>GGC	p.S287G		NM_005293	NP_005284	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	287	Helical; Name=7; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			upper_aerodigestive_tract(1)	1	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)															---	---	---	---
LY6D	8581	broad.mit.edu	37	8	143867043	143867043	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:143867043C>T	uc003yxf.1	-	2	189	c.113G>A	c.(112-114)TGC>TAC	p.C38Y		NM_003695	NP_003686	Q14210	LY6D_HUMAN	lymphocyte antigen 6 complex, locus D precursor	38	UPAR/Ly6.				cell adhesion	anchored to membrane|membrane fraction|plasma membrane	protein binding				0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)																	---	---	---	---
GPIHBP1	338328	broad.mit.edu	37	8	144296900	144296900	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144296900G>A	uc003yxu.1	+	3	269	c.194G>A	c.(193-195)TGC>TAC	p.C65Y		NM_178172	NP_835466	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high	65	UPAR/Ly6.				cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity				0	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)																	---	---	---	---
ZNF696	79943	broad.mit.edu	37	8	144378828	144378828	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144378828G>A	uc003yxy.3	+	3	1392	c.983G>A	c.(982-984)CGC>CAC	p.R328H		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	328	C2H2-type 8.				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)															---	---	---	---
EEF1D	1936	broad.mit.edu	37	8	144662275	144662275	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144662275G>A	uc011lki.1	-	7	983	c.714C>T	c.(712-714)TAC>TAT	p.Y238Y	NAPRT1_uc003yym.3_5'Flank|NAPRT1_uc003yyn.3_5'Flank|NAPRT1_uc011lkh.1_5'Flank|NAPRT1_uc003yyo.3_5'Flank|EEF1D_uc003yyp.1_Silent_p.Y580Y|EEF1D_uc003yyq.1_Silent_p.Y654Y|EEF1D_uc011lkj.1_Silent_p.Y603Y|EEF1D_uc003yyr.2_Silent_p.Y604Y|EEF1D_uc003yyt.2_Silent_p.Y604Y|EEF1D_uc011lkk.1_Silent_p.Y238Y|EEF1D_uc003yys.2_Silent_p.Y238Y|EEF1D_uc003yyv.2_Silent_p.Y214Y|EEF1D_uc003yyu.2_Silent_p.Y238Y|EEF1D_uc011lkl.1_Silent_p.Y219Y	NM_001130057	NP_001123529	P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta	238					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			ovary(1)|kidney(1)|skin(1)	3	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)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)															---	---	---	---
FAM83H	286077	broad.mit.edu	37	8	144808253	144808253	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144808253C>T	uc003yzk.2	-	5	3447	c.3378G>A	c.(3376-3378)ATG>ATA	p.M1126I	FAM83H_uc010mfk.1_RNA	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	1126					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	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;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)															---	---	---	---
SCRIB	23513	broad.mit.edu	37	8	144885649	144885649	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144885649C>T	uc003yzp.1	-	24	3514	c.3507G>A	c.(3505-3507)ACG>ACA	p.T1169T	SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Silent_p.T1169T	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	1169	PDZ 4.|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)															---	---	---	---
SCRIB	23513	broad.mit.edu	37	8	144890967	144890967	+	Missense_Mutation	SNP	C	A	A	rs147171813		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144890967C>A	uc003yzp.1	-	15	1934	c.1927G>T	c.(1927-1929)GGG>TGG	p.G643W	SCRIB_uc003yzo.1_Missense_Mutation_p.G643W	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	643	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				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)															---	---	---	---
SCRT1	83482	broad.mit.edu	37	8	145559733	145559733	+	Silent	SNP	C	T	T	rs142851592	byFrequency	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145559733C>T	uc003zbw.1	-	1	211	c.99G>A	c.(97-99)GCG>GCA	p.A33A		NM_031309	NP_112599	Q9BWW7	SCRT1_HUMAN	scratch	33						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)															---	---	---	---
SLC39A4	55630	broad.mit.edu	37	8	145638044	145638044	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145638044C>T	uc003zcq.2	-	12	1922	c.1822G>A	c.(1822-1824)GCG>ACG	p.A608T	SLC39A4_uc003zcm.1_3'UTR|SLC39A4_uc003zcn.2_Missense_Mutation_p.A110T|SLC39A4_uc003zco.2_Missense_Mutation_p.A332T|SLC39A4_uc003zcp.2_Missense_Mutation_p.A583T	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter),	608	Cytoplasmic (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)															---	---	---	---
SLC39A4	55630	broad.mit.edu	37	8	145640473	145640473	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145640473C>T	uc003zcq.2	-	4	789	c.689G>A	c.(688-690)CGC>CAC	p.R230H	SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.2_5'Flank|SLC39A4_uc003zco.2_5'UTR|SLC39A4_uc003zcp.2_Missense_Mutation_p.R205H	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter),	230	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)															---	---	---	---
CBWD1	55871	broad.mit.edu	37	9	164038	164038	+	Splice_Site	SNP	C	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									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)														---	---	---	---
DOCK8	81704	broad.mit.edu	37	9	429720	429720	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:429720G>A	uc003zgf.2	+	36	4604	c.4492G>A	c.(4492-4494)GAA>AAA	p.E1498K	DOCK8_uc010mgu.2_Missense_Mutation_p.E800K|DOCK8_uc010mgv.2_Missense_Mutation_p.E1398K|DOCK8_uc003zgk.2_Missense_Mutation_p.E956K	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1498	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)														---	---	---	---
KIAA0020	9933	broad.mit.edu	37	9	2811383	2811383	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2811383T>C	uc003zhp.1	-	15	1709	c.1613A>G	c.(1612-1614)CAT>CGT	p.H538R	KIAA0020_uc010mhc.1_Missense_Mutation_p.H537R|KIAA0020_uc003zhq.1_Missense_Mutation_p.H537R	NM_014878	NP_055693	Q15397	K0020_HUMAN	KIAA0020 protein	538						endoplasmic reticulum|nucleolus	RNA binding			ovary(1)	1				GBM - Glioblastoma multiforme(50;0.0319)														---	---	---	---
ZDHHC21	340481	broad.mit.edu	37	9	14674235	14674235	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:14674235A>T	uc003zli.2	-	4	574	c.104T>A	c.(103-105)GTC>GAC	p.V35D	ZDHHC21_uc003zlg.1_Intron	NM_178566	NP_848661	Q8IVQ6	ZDH21_HUMAN	zinc finger, DHHC-type containing 21	35	Helical; (Potential).				nitric oxide metabolic process|regulation of nitric-oxide synthase activity	Golgi membrane|integral to membrane	palmitoyltransferase activity|zinc ion binding				0				GBM - Glioblastoma multiforme(50;4.31e-06)														---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14859279	14859279	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:14859279G>A	uc003zlm.2	-	4	1123	c.533C>T	c.(532-534)GCG>GTG	p.A178V	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	178					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	15214143	15214143	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:15214143C>T	uc003zlr.1	-	4	399	c.278G>A	c.(277-279)CGC>CAC	p.R93H	TTC39B_uc003zlq.1_Missense_Mutation_p.R62H|TTC39B_uc011lmp.1_5'UTR|TTC39B_uc010mie.1_Missense_Mutation_p.R93H|TTC39B_uc011lmq.1_Missense_Mutation_p.R93H|TTC39B_uc011lmr.1_Intron|TTC39B_uc010mif.1_Missense_Mutation_p.R93H|TTC39B_uc003zls.1_5'UTR|TTC39B_uc010mig.1_Missense_Mutation_p.R62H|TTC39B_uc011lms.1_RNA	NM_152574	NP_689787	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	93							binding			ovary(1)	1																		---	---	---	---
MLLT3	4300	broad.mit.edu	37	9	20622265	20622265	+	5'UTR	SNP	C	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:20622265C>G	uc003zoe.2	-	1					MLLT3_uc011lne.1_5'Flank|MLLT3_uc011lnf.1_5'Flank|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_5'Flank	NM_004529	NP_004520			myeloid/lymphoid or mixed-lineage leukemia						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)				T	MLL	ALL								---	---	---	---
TEK	7010	broad.mit.edu	37	9	27204916	27204916	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:27204916G>A	uc003zqi.3	+	14	2659	c.2217G>A	c.(2215-2217)GCG>GCA	p.A739A	TEK_uc011lno.1_Silent_p.A696A|TEK_uc011lnp.1_Silent_p.A592A|TEK_uc003zqj.1_Silent_p.A673A	NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	739	Extracellular (Potential).				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)														---	---	---	---
IFNK	56832	broad.mit.edu	37	9	27524595	27524595	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:27524595C>A	uc003zqp.2	+	1	284	c.261C>A	c.(259-261)TTC>TTA	p.F87L	MOBKL2B_uc003zqn.2_Intron	NM_020124	NP_064509	Q9P0W0	IFNK_HUMAN	interferon kappa precursor	87					cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus	extracellular space	cytokine activity|interferon-alpha/beta receptor binding				0		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)														---	---	---	---
TOPORS	10210	broad.mit.edu	37	9	32550787	32550787	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:32550787C>T	uc003zrb.2	-	2	350	c.183G>A	c.(181-183)GCG>GCA	p.A61A	TOPORS_uc003zrc.2_Intron|uc003zrd.2_5'Flank	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	61	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)														---	---	---	---
UNC13B	10497	broad.mit.edu	37	9	35396854	35396854	+	Missense_Mutation	SNP	G	A	A	rs140663072		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35396854G>A	uc003zwq.2	+	27	3497	c.3205G>A	c.(3205-3207)GTG>ATG	p.V1069M	UNC13B_uc003zwr.2_Missense_Mutation_p.V1069M	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	1069	MHD1.				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)															---	---	---	---
OR13J1	392309	broad.mit.edu	37	9	35869700	35869700	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35869700C>A	uc011lph.1	-	1	699	c.699G>T	c.(697-699)AGG>AGT	p.R233S		NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J,	233	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
FRMPD1	22844	broad.mit.edu	37	9	37740128	37740128	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:37740128G>A	uc004aag.1	+	15	1647	c.1603G>A	c.(1603-1605)GTA>ATA	p.V535I	FRMPD1_uc004aah.1_Missense_Mutation_p.V535I|FRMPD1_uc011lqm.1_Missense_Mutation_p.V357I|FRMPD1_uc011lqn.1_Missense_Mutation_p.V404I	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	535						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)														---	---	---	---
Unknown	0	broad.mit.edu	37	9	69440233	69440233	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:69440233A>T	uc010mnx.1	+	3	486	c.317A>T	c.(316-318)AAA>ATA	p.K106I		NM_001098806	NP_001092276			coiled-coil domain containing 29																														---	---	---	---
Unknown	0	broad.mit.edu	37	9	69440243	69440243	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:69440243A>C	uc010mnx.1	+	3	496	c.327A>C	c.(325-327)GAA>GAC	p.E109D		NM_001098806	NP_001092276			coiled-coil domain containing 29																														---	---	---	---
TJP2	9414	broad.mit.edu	37	9	71836320	71836320	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:71836320G>A	uc004ahe.2	+	5	1060	c.860G>A	c.(859-861)CGC>CAC	p.R287H	TJP2_uc011lrs.1_Missense_Mutation_p.R264H|TJP2_uc004ahb.1_Missense_Mutation_p.R264H|TJP2_uc011lrt.1_Missense_Mutation_p.R264H|TJP2_uc004ahd.2_Missense_Mutation_p.R287H|TJP2_uc004ahf.2_Missense_Mutation_p.R287H|TJP2_uc011lru.1_Missense_Mutation_p.R291H|TJP2_uc011lrv.1_Missense_Mutation_p.R309H	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	287					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	72046264	72046264	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:72046264C>A	uc004ahh.2	-	13	2769	c.2493G>T	c.(2491-2493)CAG>CAT	p.Q831H		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	831					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1																		---	---	---	---
TMEM2	23670	broad.mit.edu	37	9	74360375	74360375	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:74360375G>A	uc011lsa.1	-	4	1133	c.593C>T	c.(592-594)TCC>TTC	p.S198F	TMEM2_uc010mos.2_Missense_Mutation_p.S198F|TMEM2_uc011lsb.1_RNA	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	198	G8.					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)														---	---	---	---
RORB	6096	broad.mit.edu	37	9	77275630	77275630	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:77275630A>C	uc004aji.2	+	5	817	c.768A>C	c.(766-768)GAA>GAC	p.E256D	RORB_uc004ajh.2_Missense_Mutation_p.E245D	NM_006914	NP_008845	Q92753	RORB_HUMAN	RAR-related orphan receptor B	256	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	77415342	77415342	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:77415342C>T	uc004ajl.1	-	17	2304	c.2066G>A	c.(2065-2067)CGC>CAC	p.R689H	TRPM6_uc004ajk.1_Missense_Mutation_p.R684H|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Missense_Mutation_p.R67H	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	689	Cytoplasmic (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																		---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79469112	79469112	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79469112G>A	uc010mpk.2	-	2	173	c.49C>T	c.(49-51)CGC>TGC	p.R17C	PRUNE2_uc004akn.2_Missense_Mutation_p.R17C	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	17					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0																		---	---	---	---
FLJ46321	389763	broad.mit.edu	37	9	84608351	84608351	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:84608351T>G	uc004amn.2	+	4	3013	c.2966T>G	c.(2965-2967)GTC>GGC	p.V989G		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	989						integral to membrane					0																		---	---	---	---
NFIL3	4783	broad.mit.edu	37	9	94172784	94172784	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:94172784T>C	uc004arh.2	-	2	628	c.233A>G	c.(232-234)GAA>GGA	p.E78G		NM_005384	NP_005375	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	78	Basic motif.				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																		---	---	---	---
ZNF169	169841	broad.mit.edu	37	9	97062645	97062645	+	Missense_Mutation	SNP	C	T	T	rs10993152		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:97062645C>T	uc004aum.1	+	5	910	c.805C>T	c.(805-807)CGT>TGT	p.R269C		NM_194320	NP_919301	Q14929	ZN169_HUMAN	zinc finger protein 169	269	C2H2-type 2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)																---	---	---	---
FBP2	8789	broad.mit.edu	37	9	97349699	97349699	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:97349699C>T	uc004auv.2	-	2	290	c.223G>A	c.(223-225)GAT>AAT	p.D75N		NM_003837	NP_003828	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	75					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding				0		Acute lymphoblastic leukemia(62;0.136)																---	---	---	---
C9orf102	375748	broad.mit.edu	37	9	98643499	98643499	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:98643499G>A	uc004avt.3	+	2	816	c.428G>A	c.(427-429)CGG>CAG	p.R143Q	C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_5'UTR|C9orf102_uc010mry.1_5'UTR|C9orf102_uc010mrz.2_5'UTR	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	143					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)																---	---	---	---
CYLC2	1539	broad.mit.edu	37	9	105757654	105757654	+	5'UTR	SNP	G	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:105757654G>C	uc004bbs.2	+	1						NM_001340	NP_001331			cylicin 2						cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)																---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107576391	107576391	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:107576391T>C	uc004bcl.2	-							NM_005502	NP_005493			ATP-binding cassette, sub-family A member 1						Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)													---	---	---	---
SLC44A1	23446	broad.mit.edu	37	9	108136891	108136891	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:108136891G>A	uc004bcn.2	+	13	1728	c.1507G>A	c.(1507-1509)GCC>ACC	p.A503T	SLC44A1_uc010mtk.1_Missense_Mutation_p.A503T|SLC44A1_uc004bco.1_Missense_Mutation_p.A295T	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN	CDW92 antigen	503	Mitochondrial intermembrane (Potential).					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(3)|ovary(1)	4					Choline(DB00122)													---	---	---	---
EPB41L4B	54566	broad.mit.edu	37	9	111956681	111956681	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:111956681C>T	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																		---	---	---	---
MUSK	4593	broad.mit.edu	37	9	113445033	113445033	+	Silent	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:113445033C>A	uc004bey.2	+	2	257	c.159C>A	c.(157-159)TCC>TCA	p.S53S	MUSK_uc004bex.2_Silent_p.S53S	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	53	Ig-like 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6																		---	---	---	---
C9orf84	158401	broad.mit.edu	37	9	114484788	114484788	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:114484788G>T	uc004bfr.2	-	13	1975	c.1840C>A	c.(1840-1842)CTC>ATC	p.L614I	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Missense_Mutation_p.L575I|C9orf84_uc010mug.2_Missense_Mutation_p.L560I	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	614										ovary(2)	2																		---	---	---	---
COL27A1	85301	broad.mit.edu	37	9	117044798	117044798	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:117044798C>T	uc011lxl.1	+	39	3833	c.3833C>T	c.(3832-3834)CCT>CTT	p.P1278L	COL27A1_uc004bii.2_RNA	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	1278	Pro-rich.|Collagen-like 11.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4																		---	---	---	---
TNC	3371	broad.mit.edu	37	9	117853180	117853180	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:117853180T>C	uc004bjj.3	-	2	480	c.118A>G	c.(118-120)ACC>GCC	p.T40A	TNC_uc010mvf.2_Missense_Mutation_p.T40A	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	40					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7																		---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	120176829	120176829	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:120176829G>A	uc004bjs.1	-	1	489	c.388C>T	c.(388-390)CGC>TGC	p.R130C	ASTN2_uc004bjr.1_Missense_Mutation_p.R130C|ASTN2_uc004bjt.1_Missense_Mutation_p.R130C	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	130	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9																		---	---	---	---
FBXW2	26190	broad.mit.edu	37	9	123550083	123550083	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:123550083A>G	uc004bkl.1	-	3	615	c.454T>C	c.(454-456)TAT>CAT	p.Y152H	FBXW2_uc011lyc.1_Missense_Mutation_p.Y23H|FBXW2_uc004bkn.2_Missense_Mutation_p.Y184H|FBXW2_uc004bkm.1_Missense_Mutation_p.Y152H|FBXW2_uc010mvj.1_Missense_Mutation_p.Y152H	NM_012164	NP_036296	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	152	WD 1.				proteolysis		protein binding|ubiquitin-protein ligase activity			urinary_tract(1)|ovary(1)|pancreas(1)|skin(1)	4																		---	---	---	---
NR5A1	2516	broad.mit.edu	37	9	127262986	127262986	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:127262986C>T	uc004boo.1	-	4	440	c.253G>A	c.(253-255)GCT>ACT	p.A85T		NM_004959	NP_004950	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	85	Nuclear receptor.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding				0																		---	---	---	---
TBC1D13	54662	broad.mit.edu	37	9	131559481	131559481	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131559481T>G	uc010myj.2	+	7	654	c.531T>G	c.(529-531)AGT>AGG	p.S177R	TBC1D13_uc010myk.2_Missense_Mutation_p.S177R|TBC1D13_uc010myl.2_5'UTR	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	177	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0																		---	---	---	---
CRAT	1384	broad.mit.edu	37	9	131857859	131857859	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131857859G>A	uc004bxh.2	-	14	1980	c.1698C>T	c.(1696-1698)TTC>TTT	p.F566F	CRAT_uc004bxg.2_Silent_p.F545F|CRAT_uc004bxk.3_Silent_p.F545F	NM_000755	NP_000746	P43155	CACP_HUMAN	carnitine acetyltransferase precursor	566				F->A: Increases the KM for carnitine 18- fold and reduces enzyme activity 100- fold.|F->Y: No effect.	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)													---	---	---	---
ASS1	445	broad.mit.edu	37	9	133355136	133355136	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:133355136G>A	uc004bzm.2	+	11	1078	c.722G>A	c.(721-723)GGC>GAC	p.G241D	ASS1_uc004bzn.2_Missense_Mutation_p.G241D|ASS1_uc010mza.2_Missense_Mutation_p.G317D|ASS1_uc004bzo.2_Missense_Mutation_p.G222D|ASS1_uc010mzb.2_Missense_Mutation_p.G279D|ASS1_uc004bzp.2_Missense_Mutation_p.G241D|ASS1_uc010mzc.2_Missense_Mutation_p.G241D	NM_000050	NP_000041	P00966	ASSY_HUMAN	argininosuccinate synthetase 1	241					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)													---	---	---	---
ABL1	25	broad.mit.edu	37	9	133729634	133729634	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:133729634T>C	uc004bzw.2	+						ABL1_uc004bzv.2_Intron	NM_005157	NP_005148			c-abl oncogene 1, receptor tyrosine kinase						actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)			T|Mis	BCR|ETV6|NUP214	CML|ALL|T-ALL								---	---	---	---
BAT2L1	84726	broad.mit.edu	37	9	134354725	134354725	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:134354725C>T	uc004can.3	+	18	4900	c.4845C>T	c.(4843-4845)GAC>GAT	p.D1615D	BAT2L1_uc004cao.3_Silent_p.D973D	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	1615							protein binding				0																		---	---	---	---
NTNG2	84628	broad.mit.edu	37	9	135073569	135073569	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135073569G>A	uc004cbh.2	+	3	1206	c.430G>A	c.(430-432)GGC>AGC	p.G144S		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	144	Laminin N-terminal.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)														---	---	---	---
BARHL1	56751	broad.mit.edu	37	9	135458245	135458245	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135458245G>A	uc004cbp.1	+	1	253	c.61G>A	c.(61-63)GCC>ACC	p.A21T		NM_020064	NP_064448	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	21						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)														---	---	---	---
RALGDS	5900	broad.mit.edu	37	9	136031293	136031293	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136031293C>T	uc011mcw.1	-	5	537	c.256G>A	c.(256-258)GCA>ACA	p.A86T	GBGT1_uc004ccx.2_Silent_p.E26E|GBGT1_uc010nab.2_Silent_p.E73E|GBGT1_uc011mcx.1_Silent_p.E56E|GBGT1_uc004ccw.2_Silent_p.E73E|GBGT1_uc010nac.1_5'UTR|GBGT1_uc004ccy.1_Silent_p.E73E	NM_001042368	NP_001035827	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	Error:Variant_position_missing_in_Q12967_after_alignment					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|lung(1)|ovary(1)	3				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)				T	CIITA	PMBL|Hodgkin Lymphona|								---	---	---	---
DBH	1621	broad.mit.edu	37	9	136501831	136501831	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136501831C>T	uc004cel.2	+	1	347	c.338C>T	c.(337-339)GCG>GTG	p.A113V		NM_000787	NP_000778	P09172	DOPO_HUMAN	dopamine beta hydroxylase precursor	113	DOMON.|Intragranular (Potential).				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)													---	---	---	---
BRD3	8019	broad.mit.edu	37	9	136901431	136901431	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136901431G>A	uc004cew.2	-	10	1847	c.1659C>T	c.(1657-1659)GGC>GGT	p.G553G	BRD3_uc004cex.2_3'UTR	NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	553	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								---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137642653	137642653	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:137642653C>T	uc004cfe.2	+	13	1969	c.1587C>T	c.(1585-1587)GGC>GGT	p.G529G		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	529	Interrupted collagenous 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)														---	---	---	---
FCN2	2220	broad.mit.edu	37	9	137777610	137777610	+	Intron	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:137777610A>G	uc004cfg.1	+						FCN2_uc004cfh.1_Intron	NM_004108	NP_004099			ficolin 2 isoform a precursor						complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			large_intestine(1)	1		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)														---	---	---	---
FAM69B	138311	broad.mit.edu	37	9	139616671	139616671	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139616671G>A	uc004cik.2	+	4	495	c.401G>A	c.(400-402)CGG>CAG	p.R134Q	FAM69B_uc004cil.2_Missense_Mutation_p.R47Q|SNHG7_uc004cim.2_RNA	NM_152421	NP_689634	Q5VUD6	FA69B_HUMAN	hypothetical protein LOC138311	134	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)														---	---	---	---
LCN6	158062	broad.mit.edu	37	9	139641886	139641886	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139641886A>C	uc004ciy.2	-	2	265	c.220T>G	c.(220-222)TCT>GCT	p.S74A	LCN10_uc004ciw.2_RNA|uc004ciz.1_RNA	NM_198946	NP_945184	P62502	LCN6_HUMAN	lipocalin 6 precursor	74					single fertilization	extracellular region	binding				0	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)														---	---	---	---
C9orf86	55684	broad.mit.edu	37	9	139732066	139732066	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139732066A>G	uc004cji.1	+	9	1346	c.1078A>G	c.(1078-1080)AGG>GGG	p.R360G	C9orf86_uc004cjj.1_Missense_Mutation_p.R361G|C9orf86_uc004cjk.1_RNA|C9orf86_uc010nbr.1_Intron|C9orf86_uc004cjl.1_RNA|C9orf86_uc010nbs.1_Missense_Mutation_p.R245G|C9orf86_uc004cjn.1_Missense_Mutation_p.R154G	NM_024718	NP_078994	Q3YEC7	PARF_HUMAN	Rab-like GTP-binding protein 1 isoform 1	360	Pro-rich.				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding				0	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)														---	---	---	---
MAMDC4	158056	broad.mit.edu	37	9	139749902	139749902	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139749902G>A	uc004cjs.2	+	12	1352	c.1302G>A	c.(1300-1302)CCG>CCA	p.P434P	MAMDC4_uc011mej.1_Intron	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	apical early endosomal glycoprotein precursor	434	Extracellular (Potential).				protein transport	integral to membrane				breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)														---	---	---	---
ABCA2	20	broad.mit.edu	37	9	139903925	139903925	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139903925T>C	uc011mem.1	-						ABCA2_uc011mel.1_Intron|ABCA2_uc004ckl.1_Intron|ABCA2_uc004ckm.1_Intron	NM_001606	NP_001597			ATP-binding cassette, sub-family A, member 2						cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)														---	---	---	---
SLC34A3	142680	broad.mit.edu	37	9	140130393	140130393	+	Intron	SNP	C	A	A	rs71387810		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140130393C>A	uc004cmf.1	+						SLC34A3_uc011met.1_Intron	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)														---	---	---	---
CACNA1B	774	broad.mit.edu	37	9	140777297	140777297	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140777297C>T	uc004cog.2	+	3	637	c.492C>T	c.(490-492)AAC>AAT	p.N164N	uc004cof.1_RNA	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	164	Helical; Name=S3 of repeat I; (Potential).|I.				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)													---	---	---	---
LARP4B	23185	broad.mit.edu	37	10	909765	909765	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:909765C>T	uc001ifs.1	-	4	389	c.348G>A	c.(346-348)CCG>CCA	p.P116P		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	116							nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
AKR1C3	8644	broad.mit.edu	37	10	5141002	5141002	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5141002G>T	uc001ihr.2	+	4	561	c.378G>T	c.(376-378)GAG>GAT	p.E126D	AKR1C3_uc010qap.1_Missense_Mutation_p.E103D|AKR1C3_uc001ihu.2_Missense_Mutation_p.E126D	NM_003739	NP_003730	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	126					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			skin(1)	1					Dimethyl sulfoxide(DB01093)|NADH(DB00157)													---	---	---	---
C10orf18	54906	broad.mit.edu	37	10	5800957	5800957	+	Splice_Site	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5800957T>C	uc001iij.2	+	18	7617	c.6992_splice	c.e18+2	p.R2331_splice	C10orf18_uc001iik.2_Splice_Site_p.R1175_splice	NM_017782	NP_060252			hypothetical protein LOC54906											ovary(1)|central_nervous_system(1)	2																		---	---	---	---
IL15RA	3601	broad.mit.edu	37	10	5995102	5995102	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5995102T>G	uc001iiv.2	-	7	842	c.760A>C	c.(760-762)AGC>CGC	p.S254R	IL15RA_uc001iiu.2_Intron|IL15RA_uc010qau.1_Missense_Mutation_p.S221R|IL15RA_uc001iiw.2_Missense_Mutation_p.S218R|IL15RA_uc001iix.2_Missense_Mutation_p.S185R|IL15RA_uc001iiy.2_Missense_Mutation_p.S102R	NM_002189	NP_002180	Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha isoform 1	254	Cytoplasmic (Potential).				cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity				0																		---	---	---	---
PTER	9317	broad.mit.edu	37	10	16526378	16526378	+	5'UTR	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:16526378T>C	uc001iog.1	+	3					PTER_uc001ioh.1_5'UTR|PTER_uc001ioi.1_5'UTR|PTER_uc009xjp.1_5'UTR	NM_030664	NP_109589			phosphotriesterase related						catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			ovary(2)	2																		---	---	---	---
DNAJC1	64215	broad.mit.edu	37	10	22048374	22048374	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:22048374G>A	uc001irc.2	-	11	1608	c.1321C>T	c.(1321-1323)CGG>TGG	p.R441W	DNAJC1_uc001ird.2_Missense_Mutation_p.R327W	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	441	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)																---	---	---	---
ANKRD26	22852	broad.mit.edu	37	10	27324123	27324123	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27324123C>T	uc001ith.2	-	24	3425	c.3253G>A	c.(3253-3255)GCC>ACC	p.A1085T	ANKRD26_uc001itg.2_Missense_Mutation_p.A772T|ANKRD26_uc009xku.1_Missense_Mutation_p.A1086T	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1085	Potential.					centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4																		---	---	---	---
MASTL	84930	broad.mit.edu	37	10	27454412	27454412	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27454412C>A	uc001itm.2	+	6	1394	c.755C>A	c.(754-756)CCT>CAT	p.P252H	MASTL_uc001itl.2_Missense_Mutation_p.P252H|MASTL_uc009xkw.1_Missense_Mutation_p.P252H|MASTL_uc009xkx.1_RNA	NM_032844	NP_116233	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine	252	Protein kinase.				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																		---	---	---	---
ZNF438	220929	broad.mit.edu	37	10	31134032	31134032	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:31134032G>A	uc010qdz.1	-	8	2780	c.2345C>T	c.(2344-2346)GCA>GTA	p.A782V	ZNF438_uc001ivn.2_Missense_Mutation_p.A733V|ZNF438_uc010qdy.1_Missense_Mutation_p.A772V|ZNF438_uc001ivo.3_Missense_Mutation_p.A346V|ZNF438_uc009xlg.2_Missense_Mutation_p.A782V|ZNF438_uc001ivp.3_Missense_Mutation_p.A772V|ZNF438_uc010qea.1_Missense_Mutation_p.A782V|ZNF438_uc010qeb.1_Missense_Mutation_p.A782V	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	782	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)																---	---	---	---
CUL2	8453	broad.mit.edu	37	10	35317808	35317808	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:35317808G>A	uc001ixv.2	-	16	1757	c.1547C>T	c.(1546-1548)GCG>GTG	p.A516V	CUL2_uc009xma.2_Missense_Mutation_p.A385V|CUL2_uc010qer.1_Missense_Mutation_p.A535V|CUL2_uc001ixw.2_Missense_Mutation_p.A516V|CUL2_uc010qes.1_Missense_Mutation_p.A453V	NM_003591	NP_003582	Q13617	CUL2_HUMAN	cullin 2	516					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																		---	---	---	---
FRMPD2	143162	broad.mit.edu	37	10	49446167	49446167	+	Splice_Site	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:49446167C>T	uc001jgi.2	-	8	896	c.789_splice	c.e8-1	p.R263_splice	FRMPD2_uc001jgh.2_Splice_Site_p.R232_splice|FRMPD2_uc001jgj.2_Splice_Site_p.R241_splice	NM_001018071	NP_001018081			FERM and PDZ domain containing 2 isoform 3						tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)														---	---	---	---
PRKG1	5592	broad.mit.edu	37	10	53227559	53227559	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:53227559T>C	uc001jjm.2	+	3	704	c.510T>C	c.(508-510)GCT>GCC	p.A170A	PRKG1_uc001jjn.2_Silent_p.A185A|PRKG1_uc001jjo.2_Silent_p.A185A|PRKG1_uc010qhp.1_Silent_p.A170A	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I isoform	170	cGMP 1.				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)														---	---	---	---
DKK1	22943	broad.mit.edu	37	10	54074759	54074759	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:54074759G>A	uc001jjr.2	+	2	474	c.320G>A	c.(319-321)GGC>GAC	p.G107D	uc001jjq.1_5'Flank|uc009xox.1_5'Flank	NM_012242	NP_036374	O94907	DKK1_HUMAN	dickkopf homolog 1 precursor	107	DKK-type Cys-1.				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3																OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
BICC1	80114	broad.mit.edu	37	10	60553279	60553279	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:60553279G>T	uc001jki.1	+	9	1083	c.1083G>T	c.(1081-1083)AAG>AAT	p.K361N	BICC1_uc001jkj.1_Missense_Mutation_p.K2N	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	361					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---
ANK3	288	broad.mit.edu	37	10	61815606	61815606	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:61815606T>C	uc001jky.2	-	42	13067	c.12875A>G	c.(12874-12876)CAT>CGT	p.H4292R	ANK3_uc001jkw.2_Missense_Mutation_p.H916R|ANK3_uc009xpa.2_Missense_Mutation_p.H916R|ANK3_uc001jkx.2_Missense_Mutation_p.H960R|ANK3_uc010qih.1_Missense_Mutation_p.H1783R|ANK3_uc001jkz.3_Missense_Mutation_p.H1776R|ANK3_uc001jkv.2_Missense_Mutation_p.H315R	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	4292					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	62023723	62023723	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:62023723G>A	uc001jky.2	-	6	761	c.569C>T	c.(568-570)TCG>TTG	p.S190L	ANK3_uc010qih.1_Missense_Mutation_p.S173L|ANK3_uc001jkz.3_Missense_Mutation_p.S184L|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	190	ANK 4.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19																		---	---	---	---
TMEM26	219623	broad.mit.edu	37	10	63170171	63170171	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:63170171T>C	uc001jlo.2	-	6	1385	c.1016A>G	c.(1015-1017)CAG>CGG	p.Q339R	TMEM26_uc010qij.1_RNA|TMEM26_uc001jlp.1_RNA	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	339						integral to membrane					0	Prostate(12;0.0112)																	---	---	---	---
ZNF365	22891	broad.mit.edu	37	10	64136602	64136602	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:64136602C>T	uc001jmc.2	+	2	965	c.650C>T	c.(649-651)GCC>GTC	p.A217V	ZNF365_uc001jly.3_Missense_Mutation_p.A232V|ZNF365_uc001jmb.3_Missense_Mutation_p.A217V|ZNF365_uc001jlz.3_Missense_Mutation_p.A217V|ZNF365_uc001jma.3_Intron	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform C	Error:Variant_position_missing_in_Q70YC4_after_alignment										ovary(1)|skin(1)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)																	---	---	---	---
PBLD	64081	broad.mit.edu	37	10	70056045	70056045	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70056045T>C	uc001jns.1	-	4	464	c.261A>G	c.(259-261)GCA>GCG	p.A87A	PBLD_uc001jnr.1_Silent_p.A54A|PBLD_uc001jnt.1_Silent_p.A87A|PBLD_uc001jnu.1_Silent_p.A87A|PBLD_uc001jnv.1_Intron	NM_022129	NP_071412	P30039	PBLD_HUMAN	MAWD binding protein isoform a	87					biosynthetic process		isomerase activity			skin(2)|ovary(1)	3																		---	---	---	---
TSPAN15	23555	broad.mit.edu	37	10	71243561	71243561	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:71243561G>A	uc001jpo.1	+	2	336	c.211G>A	c.(211-213)GTC>ATC	p.V71I		NM_012339	NP_036471	O95858	TSN15_HUMAN	transmembrane 4 superfamily member 15	71	Helical; (Potential).					integral to plasma membrane|membrane fraction					0																		---	---	---	---
COL13A1	1305	broad.mit.edu	37	10	71631924	71631924	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:71631924T>C	uc001jpr.1	+						COL13A1_uc001jqj.1_Intron|COL13A1_uc001jps.1_Intron|COL13A1_uc001jpt.1_Intron|COL13A1_uc001jpu.1_Intron|COL13A1_uc001jpv.1_Intron|COL13A1_uc001jpx.1_Intron|COL13A1_uc001jpw.1_Intron|COL13A1_uc001jpy.1_Intron|COL13A1_uc001jpz.1_Intron|COL13A1_uc001jqa.1_Intron|COL13A1_uc001jqc.1_Intron|COL13A1_uc001jqb.1_Intron|COL13A1_uc001jql.2_Intron|COL13A1_uc001jqd.1_Intron|COL13A1_uc001jqe.1_Intron|COL13A1_uc001jqf.1_Intron|COL13A1_uc001jqg.1_Intron|COL13A1_uc001jqh.1_Intron|COL13A1_uc001jqi.1_Intron|COL13A1_uc010qjf.1_Intron|COL13A1_uc001jqk.1_Intron	NM_005203	NP_005194			alpha 1 type XIII collagen isoform 1						cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			ovary(1)	1					Atorvastatin(DB01076)|Simvastatin(DB00641)													---	---	---	---
TYSND1	219743	broad.mit.edu	37	10	71902509	71902509	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:71902509C>T	uc001jqr.2	-	3	1552	c.1398G>A	c.(1396-1398)ACG>ACA	p.T466T	TYSND1_uc001jqq.2_RNA|TYSND1_uc001jqs.2_Intron|TYSND1_uc001jqt.2_Intron	NM_173555	NP_775826	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1 isoform a	466	Serine protease.				proteolysis	peroxisome	serine-type endopeptidase activity			large_intestine(1)	1																		---	---	---	---
SLC29A3	55315	broad.mit.edu	37	10	73116008	73116008	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:73116008T>C	uc001jrr.3	+						SLC29A3_uc001jrs.3_Splice_Site|SLC29A3_uc010qjq.1_Intron|SLC29A3_uc001jrt.3_Intron|SLC29A3_uc001jru.3_Intron	NM_018344	NP_060814			solute carrier family 29 (nucleoside						nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity				0																		---	---	---	---
DUSP13	51207	broad.mit.edu	37	10	76867771	76867771	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:76867771G>T	uc001jws.2	-	2	401	c.346C>A	c.(346-348)CGT>AGT	p.R116S	DUSP13_uc001jwu.2_Intron|DUSP13_uc001jww.2_Intron|DUSP13_uc009xrs.2_5'UTR|DUSP13_uc001jwt.2_5'UTR|DUSP13_uc001jwv.2_Intron	NM_001007271	NP_001007272	Q6B8I1	MDSP_HUMAN	muscle-restricted dual specificity phosphatase	116	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)																	---	---	---	---
POLR3A	11128	broad.mit.edu	37	10	79741970	79741970	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:79741970G>A	uc001jzn.2	-	28	3795	c.3701C>T	c.(3700-3702)GCA>GTA	p.A1234V		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	1234					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)															---	---	---	---
NRG3	10718	broad.mit.edu	37	10	84744984	84744984	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:84744984A>G	uc001kco.2	+	9	1741	c.1714A>G	c.(1714-1716)AGT>GGT	p.S572G	NRG3_uc010qlz.1_Missense_Mutation_p.S571G|NRG3_uc001kcp.2_Missense_Mutation_p.S375G|NRG3_uc001kcq.2_Missense_Mutation_p.S222G|NRG3_uc001kcr.2_Missense_Mutation_p.S246G	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	596	Cytoplasmic (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)														---	---	---	---
WAPAL	23063	broad.mit.edu	37	10	88259864	88259864	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:88259864C>T	uc001kdo.2	-	3	1578	c.1136G>A	c.(1135-1137)CGC>CAC	p.R379H	WAPAL_uc001kdn.2_Missense_Mutation_p.R422H|WAPAL_uc009xsw.2_Missense_Mutation_p.R379H	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog	379	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			ovary(1)	1																		---	---	---	---
CPEB3	22849	broad.mit.edu	37	10	93999718	93999718	+	Silent	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:93999718G>T	uc001khw.1	-	2	563	c.390C>A	c.(388-390)GTC>GTA	p.V130V	CPEB3_uc001khu.1_Silent_p.V130V|CPEB3_uc001khv.1_Silent_p.V130V|CPEB3_uc010qnn.1_Silent_p.V130V	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding	130	Pro-rich.						nucleotide binding|RNA binding				0		Colorectal(252;0.0869)																---	---	---	---
TMEM20	159371	broad.mit.edu	37	10	95660776	95660776	+	Silent	SNP	C	T	T	rs148915546		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:95660776C>T	uc001kjg.1	+	3	688	c.627C>T	c.(625-627)TCC>TCT	p.S209S	TMEM20_uc001kji.2_Intron|TMEM20_uc001kjf.1_Silent_p.S208S|TMEM20_uc001kjh.2_Intron|TMEM20_uc010qnw.1_Silent_p.S192S|TMEM20_uc001kjj.2_Intron	NM_001134658	NP_001128130	Q2M3R5	TMM20_HUMAN	transmembrane protein 20 isoform 1	209						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)														---	---	---	---
SORBS1	10580	broad.mit.edu	37	10	97101123	97101123	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:97101123T>C	uc001kkp.2	-	26	2634	c.2589A>G	c.(2587-2589)CCA>CCG	p.P863P	SORBS1_uc001kkk.2_Silent_p.P357P|SORBS1_uc001kkl.2_Silent_p.P465P|SORBS1_uc001kkn.2_Silent_p.P628P|SORBS1_uc001kkm.2_Silent_p.P663P|SORBS1_uc001kko.2_Silent_p.P885P|SORBS1_uc001kkq.2_Silent_p.P714P|SORBS1_uc001kkr.2_Silent_p.P569P|SORBS1_uc001kks.2_Silent_p.P513P|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Silent_p.P610P|SORBS1_uc001kkv.2_Silent_p.P645P|SORBS1_uc001kkw.2_Silent_p.P817P|SORBS1_uc010qoe.1_Silent_p.P578P	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	863					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)														---	---	---	---
TM9SF3	56889	broad.mit.edu	37	10	98287262	98287262	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:98287262G>A	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)														---	---	---	---
PI4K2A	55361	broad.mit.edu	37	10	99361742	99361742	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99361742G>A	uc010qoy.1	+	2	699	c.340G>A	c.(340-342)GCT>ACT	p.A114T	DHDPSL_uc001kny.2_Missense_Mutation_p.A277T|DHDPSL_uc001knz.2_Missense_Mutation_p.A114T	NM_018425	NP_060895	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	Error:Variant_position_missing_in_Q9BTU6_after_alignment					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)														---	---	---	---
HPS1	3257	broad.mit.edu	37	10	100185471	100185471	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:100185471T>A	uc010qpf.1	-	13	1408	c.1162A>T	c.(1162-1164)AGC>TGC	p.S388C	HPS1_uc001kpi.1_Missense_Mutation_p.S388C|HPS1_uc001kpj.1_Missense_Mutation_p.S295C|HPS1_uc001kpk.1_Missense_Mutation_p.S212C|HPS1_uc010qpg.1_Intron|HPS1_uc009xwb.2_RNA	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1 protein isoform a	388					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			skin(1)	1		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)										Hermansky-Pudlak_syndrome		OREG0020430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
HPSE2	60495	broad.mit.edu	37	10	100503680	100503680	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:100503680G>A	uc001kpn.1	-	4	804	c.744C>T	c.(742-744)AGC>AGT	p.S248S	HPSE2_uc009xwc.1_Silent_p.S238S|HPSE2_uc001kpo.1_Intron|HPSE2_uc009xwd.1_Intron	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	heparanase 2	248					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			ovary(1)	1				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)														---	---	---	---
PAX2	5076	broad.mit.edu	37	10	102510447	102510447	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:102510447G>A	uc001krk.3	+						PAX2_uc001krl.3_Intron|PAX2_uc001krm.3_Intron|PAX2_uc001kro.3_Intron|PAX2_uc001krn.3_Intron|PAX2_uc010qps.1_Intron|PAX2_uc001krp.1_Intron	NM_003990	NP_003981			paired box protein 2 isoform e						anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity				0		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)														---	---	---	---
SEMA4G	57715	broad.mit.edu	37	10	102743183	102743183	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:102743183C>T	uc001krw.1	+	14	2211	c.1827C>T	c.(1825-1827)AGC>AGT	p.S609S	SEMA4G_uc001krv.2_RNA|SEMA4G_uc001krx.2_Intron|MRPL43_uc001kry.1_Intron|MRPL43_uc010qpu.1_Intron|MRPL43_uc001krz.1_Intron|MRPL43_uc001ksa.1_Intron|MRPL43_uc001ksb.1_Intron	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	semaphorin 4G	604	Extracellular (Potential).|Ig-like C2-type.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)	1		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)														---	---	---	---
C10orf2	56652	broad.mit.edu	37	10	102748165	102748165	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:102748165G>A	uc001ksf.2	+	1	873	c.198G>A	c.(196-198)GGG>GGA	p.G66G	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.2_5'Flank|C10orf2_uc001ksg.2_Silent_p.G66G|C10orf2_uc001ksi.2_Intron|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksh.2_Intron	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	twinkle isoform A	66					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			ovary(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)														---	---	---	---
C10orf2	56652	broad.mit.edu	37	10	102748553	102748553	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:102748553C>T	uc001ksf.2	+	1	1261	c.586C>T	c.(586-588)CGA>TGA	p.R196*	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksd.1_5'Flank|MRPL43_uc001ksc.2_5'Flank|MRPL43_uc001kse.2_5'Flank|C10orf2_uc001ksg.2_Nonsense_Mutation_p.R196*|C10orf2_uc001ksi.2_Intron|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksh.2_Intron	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	twinkle isoform A	196					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			ovary(1)	1		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)														---	---	---	---
TLX1NB	100038246	broad.mit.edu	37	10	102849604	102849604	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:102849604T>G	uc001ksv.2	-	3	1356	c.59A>C	c.(58-60)CAC>CCC	p.H20P		NM_001085398	NP_001078867	P0CAT3	TLXNB_HUMAN	TLX1 divergent	20											0																		---	---	---	---
DPCD	25911	broad.mit.edu	37	10	103360573	103360573	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103360573G>A	uc001ktn.2	+	3	229	c.224G>A	c.(223-225)GGA>GAA	p.G75E	hsa-mir-3158-1|MI0014186_5'Flank	NM_015448	NP_056263	Q9BVM2	DPCD_HUMAN	DPCD protein	75							protein binding			skin(1)	1																		---	---	---	---
ARL3	403	broad.mit.edu	37	10	104436643	104436643	+	3'UTR	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104436643T>C	uc001kwa.2	-	6						NM_004311	NP_004302			ADP-ribosylation factor-like 3						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)														---	---	---	---
CNNM2	54805	broad.mit.edu	37	10	104679834	104679834	+	Missense_Mutation	SNP	G	A	A	rs146507239		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104679834G>A	uc001kwm.2	+	1	1721	c.1597G>A	c.(1597-1599)GCT>ACT	p.A533T	CNNM2_uc001kwn.2_Missense_Mutation_p.A533T|CNNM2_uc001kwl.2_Missense_Mutation_p.A533T	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	533	CBS 2.				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)														---	---	---	---
SLK	9748	broad.mit.edu	37	10	105761303	105761303	+	Silent	SNP	T	C	C	rs139324300		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105761303T>C	uc001kxo.1	+	8	1000	c.966T>C	c.(964-966)GAT>GAC	p.D322D	SLK_uc001kxp.1_Silent_p.D322D	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	serine/threonine kinase 2	322	Glu-rich.				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)														---	---	---	---
ITPRIP	85450	broad.mit.edu	37	10	106075805	106075805	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:106075805G>A	uc001kye.2	-	2	78	c.5C>T	c.(4-6)GCC>GTC	p.A2V	ITPRIP_uc001kyf.2_Missense_Mutation_p.A2V|ITPRIP_uc001kyg.2_Missense_Mutation_p.A2V	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-triphosphate receptor interacting	2						plasma membrane					0																		---	---	---	---
PDCD4	27250	broad.mit.edu	37	10	112647471	112647471	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:112647471G>A	uc001kzh.2	+	6	847	c.604G>A	c.(604-606)GTG>ATG	p.V202M	PDCD4_uc001kzg.2_Missense_Mutation_p.V191M|PDCD4_uc010qre.1_Missense_Mutation_p.V188M	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	programmed cell death 4 isoform 1	202	MI 1.				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			ovary(1)|breast(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)														---	---	---	---
HABP2	3026	broad.mit.edu	37	10	115336940	115336940	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115336940C>T	uc001lai.3	+	5	466	c.363C>T	c.(361-363)GGC>GGT	p.G121G	HABP2_uc010qrz.1_RNA|HABP2_uc010qry.1_Missense_Mutation_p.A110V	NM_004132	NP_004123	Q14520	HABP2_HUMAN	hyaluronan binding protein 2 preproprotein	121	EGF-like 2.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)														---	---	---	---
HABP2	3026	broad.mit.edu	37	10	115344051	115344051	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115344051C>T	uc001lai.3	+							NM_004132	NP_004123			hyaluronan binding protein 2 preproprotein						cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)														---	---	---	---
PNLIP	5406	broad.mit.edu	37	10	118306822	118306822	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118306822C>T	uc001lcm.2	+	3	106	c.63C>T	c.(61-63)TAC>TAT	p.Y21Y		NM_000936	NP_000927	P16233	LIPP_HUMAN	pancreatic lipase precursor	21					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)													---	---	---	---
HTRA1	5654	broad.mit.edu	37	10	124249045	124249045	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124249045G>A	uc001lgj.2	+	3	808	c.680G>A	c.(679-681)CGG>CAG	p.R227Q		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1 precursor	227	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)																---	---	---	---
UROS	7390	broad.mit.edu	37	10	127477552	127477552	+	Missense_Mutation	SNP	G	A	A	rs121908014		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:127477552G>A	uc001liw.3	-	9	816	c.683C>T	c.(682-684)ACG>ATG	p.T228M	UROS_uc001liv.3_Missense_Mutation_p.T161M|UROS_uc010quh.1_RNA|UROS_uc001lix.3_Missense_Mutation_p.T228M|UROS_uc001liy.3_RNA	NM_000375	NP_000366	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	228			T -> M (in CEP; no detectable activity).	T->A: Impairs enzymatic activity.	heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity				0		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)																---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129902596	129902596	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:129902596C>T	uc001lke.2	-	13	7703	c.7508G>A	c.(7507-7509)CGG>CAG	p.R2503Q	MKI67_uc001lkf.2_Missense_Mutation_p.R2143Q|MKI67_uc009yav.1_Missense_Mutation_p.R2078Q|MKI67_uc009yaw.1_Missense_Mutation_p.R1653Q	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2503	16 X 122 AA approximate repeats.|13.				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)																---	---	---	---
ANO9	338440	broad.mit.edu	37	11	418560	418560	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:418560G>A	uc001lpi.2	-	23	2245	c.2160C>T	c.(2158-2160)GCC>GCT	p.A720A	SIGIRR_uc001lpf.2_5'Flank|SIGIRR_uc001lpe.1_5'Flank|ANO9_uc001lph.2_Silent_p.A413A|ANO9_uc010qvv.1_Silent_p.A576A	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	tumor protein p53 inducible protein 5	720	Helical; (Potential).					chloride channel complex	chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4																		---	---	---	---
RNH1	6050	broad.mit.edu	37	11	494914	494914	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:494914G>A	uc001lpk.1	-	8	2675	c.1267C>T	c.(1267-1269)CGG>TGG	p.R423W	RNH1_uc001lpl.1_Missense_Mutation_p.R423W|RNH1_uc001lpm.1_Missense_Mutation_p.R423W|RNH1_uc001lpn.1_Missense_Mutation_p.R423W|RNH1_uc001lpo.1_Missense_Mutation_p.R423W|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Missense_Mutation_p.R423W|RNH1_uc001lpt.1_Missense_Mutation_p.R180W|RNH1_uc001lpq.1_Missense_Mutation_p.R423W|RNH1_uc001lpr.1_Missense_Mutation_p.R423W|RNH1_uc001lps.1_Missense_Mutation_p.R423W	NM_203389	NP_976323	P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor	423	LRR 15.			RQ -> SE (in Ref. 2; CAA32151/AAA60249).	mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity				0		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-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;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)														---	---	---	---
RNH1	6050	broad.mit.edu	37	11	498841	498841	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:498841C>A	uc001lpk.1	-	5	2115	c.707G>T	c.(706-708)AGC>ATC	p.S236I	RNH1_uc001lpl.1_Missense_Mutation_p.S236I|RNH1_uc001lpm.1_Missense_Mutation_p.S236I|RNH1_uc001lpn.1_Missense_Mutation_p.S236I|RNH1_uc001lpo.1_Missense_Mutation_p.S236I|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Missense_Mutation_p.S236I|RNH1_uc001lpt.1_5'UTR|RNH1_uc001lpq.1_Missense_Mutation_p.S236I|RNH1_uc001lpr.1_Missense_Mutation_p.S236I|RNH1_uc001lps.1_Missense_Mutation_p.S236I	NM_203389	NP_976323	P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor	236	LRR 8.				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity				0		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-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;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)														---	---	---	---
RRM1	6240	broad.mit.edu	37	11	4144429	4144429	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4144429C>T	uc001lyw.3	+	12	1454	c.1135C>T	c.(1135-1137)CGT>TGT	p.R379C	RRM1_uc009yej.2_RNA|RRM1_uc009yei.2_Missense_Mutation_p.R339C|RRM1_uc010qyc.1_Missense_Mutation_p.R282C|RRM1_uc010qyd.1_Missense_Mutation_p.R41C	NM_001033	NP_001024	P23921	RIR1_HUMAN	ribonucleoside-diphosphate reductase M1 chain	379					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)													---	---	---	---
TRIM6	117854	broad.mit.edu	37	11	5632556	5632556	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5632556G>A	uc001mbc.1	+	8	1583	c.1451G>A	c.(1450-1452)CGT>CAT	p.R484H	HBG2_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.2_Intron|TRIM6_uc009yeo.1_Missense_Mutation_p.R458H|TRIM6_uc010qzj.1_Missense_Mutation_p.R309H|TRIM6_uc001mbe.2_Missense_Mutation_p.R309H|TRIM6_uc010qzk.1_Missense_Mutation_p.R309H|TRIM6_uc010qzl.1_Missense_Mutation_p.R309H|TRIM6_uc001mbd.2_Missense_Mutation_p.R512H|TRIM6_uc001mbg.1_Missense_Mutation_p.R309H|TRIM6_uc009yep.1_3'UTR	NM_058166	NP_477514	Q9C030	TRIM6_HUMAN	tripartite motif-containing 6 isoform 2	484	B30.2/SPRY.				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)														---	---	---	---
OR52E6	390078	broad.mit.edu	37	11	5862873	5862873	+	Silent	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5862873G>T	uc010qzq.1	-	1	255	c.255C>A	c.(253-255)GGC>GGA	p.G85G	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E,	85	Extracellular (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;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
OR52E6	390078	broad.mit.edu	37	11	5862874	5862874	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5862874C>T	uc010qzq.1	-	1	254	c.254G>A	c.(253-255)GGC>GAC	p.G85D	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E,	85	Extracellular (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;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
FAM160A2	84067	broad.mit.edu	37	11	6239808	6239808	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6239808C>T	uc001mcl.3	-						FAM160A2_uc001mck.3_Missense_Mutation_p.G486E|FAM160A2_uc001mcm.2_Intron	NM_001098794	NP_001092264			hypothetical protein LOC84067 isoform 2						early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2																		---	---	---	---
OR10A4	283297	broad.mit.edu	37	11	6898314	6898314	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6898314G>A	uc010rat.1	+	1	436	c.436G>A	c.(436-438)GCA>ACA	p.A146T		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A,	146	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)														---	---	---	---
ZNF214	7761	broad.mit.edu	37	11	7021712	7021712	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7021712A>C	uc001mfa.2	-	3	1505	c.1202T>G	c.(1201-1203)CTT>CGT	p.L401R	ZNF214_uc010ray.1_Missense_Mutation_p.L401R|ZNF214_uc009yfh.1_Missense_Mutation_p.L401R	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	zinc finger protein 214	401	C2H2-type 5.				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)														---	---	---	---
ZNF214	7761	broad.mit.edu	37	11	7022691	7022691	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7022691C>T	uc001mfa.2	-	3	526	c.223G>A	c.(223-225)GCC>ACC	p.A75T	ZNF214_uc010ray.1_Missense_Mutation_p.A75T|ZNF214_uc009yfh.1_Missense_Mutation_p.A75T	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	zinc finger protein 214	75	KRAB.				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)														---	---	---	---
RBMXL2	27288	broad.mit.edu	37	11	7111338	7111338	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7111338T>C	uc001mfc.2	+	1	1174	c.987T>C	c.(985-987)AGT>AGC	p.S329S		NM_014469	NP_055284	O75526	HNRGT_HUMAN	testes-specific heterogenous nuclear	329	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)														---	---	---	---
IPO7	10527	broad.mit.edu	37	11	9451349	9451349	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:9451349A>G	uc001mho.2	+	15	1862	c.1720A>G	c.(1720-1722)ACT>GCT	p.T574A		NM_006391	NP_006382	O95373	IPO7_HUMAN	importin 7	574					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			lung(1)|breast(1)	2				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)														---	---	---	---
USH1C	10083	broad.mit.edu	37	11	17519712	17519712	+	Silent	SNP	G	A	A	rs142801489		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17519712G>A	uc001mnf.2	-	19	1696	c.1587C>T	c.(1585-1587)GGC>GGT	p.G529G	USH1C_uc001mne.2_Silent_p.G829G|USH1C_uc009yhb.2_Silent_p.G510G|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Silent_p.G493G	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	harmonin isoform a	529	PDZ 3.				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																		---	---	---	---
MRGPRX3	117195	broad.mit.edu	37	11	18159640	18159640	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:18159640C>T	uc001mnu.2	+	3	1252	c.891C>T	c.(889-891)GAC>GAT	p.D297D		NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	297	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2																		---	---	---	---
MRGPRX1	259249	broad.mit.edu	37	11	18955384	18955384	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:18955384C>T	uc001mpg.2	-	1	1166	c.948G>A	c.(946-948)TCG>TCA	p.S316S		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	316	Cytoplasmic (Potential).				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(2)|central_nervous_system(1)	3																		---	---	---	---
MRGPRX1	259249	broad.mit.edu	37	11	18956154	18956154	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:18956154C>T	uc001mpg.2	-	1	396	c.178G>A	c.(178-180)GCC>ACC	p.A60T		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	60	Cytoplasmic (Potential).				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(2)|central_nervous_system(1)	3																		---	---	---	---
ABTB2	25841	broad.mit.edu	37	11	34218969	34218969	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:34218969C>T	uc001mvl.1	-	3	819	c.589G>A	c.(589-591)GCC>ACC	p.A197T		NM_145804	NP_665803	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing	197							DNA binding			central_nervous_system(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)																---	---	---	---
PRR5L	79899	broad.mit.edu	37	11	36459025	36459025	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:36459025A>G	uc001mwo.3	+	6	832	c.443A>G	c.(442-444)CAG>CGG	p.Q148R	PRR5L_uc001mwp.2_Missense_Mutation_p.Q148R|PRR5L_uc009ykk.2_Missense_Mutation_p.Q67R|PRR5L_uc010rfc.1_Missense_Mutation_p.Q148R	NM_001160167	NP_001153639	Q6MZQ0	PRR5L_HUMAN	protor-2 isoform a	148										ovary(1)	1																		---	---	---	---
CHST1	8534	broad.mit.edu	37	11	45672102	45672102	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:45672102C>T	uc001mys.1	-	4	1043	c.372G>A	c.(370-372)CTG>CTA	p.L124L		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	124	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)														---	---	---	---
CHRM4	1132	broad.mit.edu	37	11	46406884	46406884	+	Silent	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:46406884G>T	uc001nct.1	-	1	1224	c.1224C>A	c.(1222-1224)GCC>GCA	p.A408A		NM_000741	NP_000732	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	408	Helical; Name=6; (By similarity).				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity				0				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)													---	---	---	---
SPI1	6688	broad.mit.edu	37	11	47399893	47399893	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47399893C>T	uc001nfc.1	-	1	235	c.12G>A	c.(10-12)GCG>GCA	p.A4A	SPI1_uc001nfb.1_Silent_p.A4A|SLC39A13_uc001nfd.2_Intron|SPI1_uc009ylp.1_Translation_Start_Site	NM_003120	NP_003111	P17947	SPI1_HUMAN	hematopoietic transcription factor PU.1 isoform	4					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|central_nervous_system(1)	2				Lung(87;0.0967)														---	---	---	---
OR10AG1	282770	broad.mit.edu	37	11	55735092	55735092	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55735092A>G	uc010rit.1	-	1	848	c.848T>C	c.(847-849)CTG>CCG	p.L283P		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG,	283	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.0137)																	---	---	---	---
SSRP1	6749	broad.mit.edu	37	11	57099223	57099223	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57099223C>T	uc001njt.2	-	9	1409	c.1142G>A	c.(1141-1143)CGT>CAT	p.R381H		NM_003146	NP_003137	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	381					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			ovary(2)	2																		---	---	---	---
SSRP1	6749	broad.mit.edu	37	11	57100495	57100495	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57100495A>G	uc001njt.2	-	5	742	c.475T>C	c.(475-477)TCT>CCT	p.S159P	SSRP1_uc010rjq.1_Missense_Mutation_p.S159P	NM_003146	NP_003137	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	159					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			ovary(2)	2																		---	---	---	---
CTNND1	1500	broad.mit.edu	37	11	57577702	57577702	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57577702T>C	uc001nmc.3	+						CTNND1_uc001nlh.1_Intron|CTNND1_uc001nlu.3_Intron|CTNND1_uc001nlt.3_Intron|CTNND1_uc001nls.3_Intron|CTNND1_uc001nlw.3_Intron|CTNND1_uc001nmf.3_Intron|CTNND1_uc001nmd.3_Intron|CTNND1_uc001nlk.3_Intron|CTNND1_uc001nme.3_Intron|CTNND1_uc001nll.3_Intron|CTNND1_uc001nmg.3_Intron|CTNND1_uc001nlj.3_Intron|CTNND1_uc001nlr.3_Intron|CTNND1_uc001nlp.3_Intron|CTNND1_uc001nlx.3_Intron|CTNND1_uc001nlz.3_Intron|CTNND1_uc009ymn.2_Intron|CTNND1_uc001nlm.3_Intron|CTNND1_uc001nly.3_Intron|CTNND1_uc001nmb.3_Intron|CTNND1_uc001nma.3_Intron|CTNND1_uc001nmi.3_Intron|CTNND1_uc001nmh.3_Intron|CTNND1_uc001nlq.3_Intron|CTNND1_uc001nln.3_Intron|CTNND1_uc001nli.3_Intron|CTNND1_uc001nlo.3_Intron|CTNND1_uc001nlv.3_Intron	NM_001085458	NP_001078927			catenin, delta 1 isoform 1ABC						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)																---	---	---	---
TCN1	6947	broad.mit.edu	37	11	59622240	59622240	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:59622240C>T	uc001noj.2	-	7	1104	c.1006G>A	c.(1006-1008)GTC>ATC	p.V336I		NM_001062	NP_001053	P20061	TCO1_HUMAN	transcobalamin I precursor	336					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			ovary(2)	2		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)													---	---	---	---
MS4A12	54860	broad.mit.edu	37	11	60269478	60269478	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60269478C>G	uc001npr.2	+	4	494	c.437C>G	c.(436-438)TCT>TGT	p.S146C		NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member	146	Cytoplasmic (Potential).					integral to membrane	receptor activity				0																		---	---	---	---
VWCE	220001	broad.mit.edu	37	11	61032017	61032017	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61032017G>A	uc001nra.2	-	19	2451	c.2172C>T	c.(2170-2172)TGC>TGT	p.C724C	VWCE_uc001nrb.2_RNA	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	724	VWFC 6.					extracellular region	calcium ion binding			ovary(1)	1																		---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61097046	61097046	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61097046C>T	uc001nrc.3	-	4	564	c.338G>A	c.(337-339)GGC>GAC	p.G113D	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.G113D|DDB1_uc010rlg.1_5'Flank|DDB1_uc001nrd.2_Missense_Mutation_p.G113D|DDB1_uc009ynl.1_Intron	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	113	Interaction with CDT1.				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					---	---	---	---
DAGLA	747	broad.mit.edu	37	11	61488196	61488196	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61488196G>A	uc001nsa.2	+	3	252	c.141G>A	c.(139-141)CCG>CCA	p.P47P		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	47	Extracellular (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)														---	---	---	---
INCENP	3619	broad.mit.edu	37	11	61897808	61897808	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61897808C>A	uc001nsw.1	+	4	1011	c.809C>A	c.(808-810)CCA>CAA	p.P270Q	INCENP_uc009ynv.2_Missense_Mutation_p.P270Q|INCENP_uc009ynw.1_Missense_Mutation_p.P270Q|INCENP_uc001nsx.1_Missense_Mutation_p.P270Q	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	270					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			lung(1)	1																		---	---	---	---
TAF6L	10629	broad.mit.edu	37	11	62554065	62554065	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62554065G>A	uc001nvc.2	+	11	1267	c.1166G>A	c.(1165-1167)TGC>TAC	p.C389Y	TMEM179B_uc001nvd.3_5'Flank	NM_006473	NP_006464	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II	389					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			ovary(3)	3																OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
NRXN2	9379	broad.mit.edu	37	11	64453271	64453271	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64453271C>T	uc001oar.2	-	7	1438	c.999G>A	c.(997-999)TCG>TCA	p.S333S	NRXN2_uc001oas.2_Silent_p.S309S|NRXN2_uc001oaq.2_Silent_p.S7S	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																		---	---	---	---
MEN1	4221	broad.mit.edu	37	11	64575097	64575097	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64575097G>A	uc001obj.2	-	4	798	c.725C>T	c.(724-726)GCG>GTG	p.A242V	MEN1_uc001obk.2_Missense_Mutation_p.A242V|MEN1_uc001obl.2_Missense_Mutation_p.A202V|MEN1_uc001obm.2_Missense_Mutation_p.A237V|MEN1_uc001obn.2_Missense_Mutation_p.A242V|MEN1_uc001obo.2_Missense_Mutation_p.A242V|MEN1_uc001obp.2_Missense_Mutation_p.A237V|MEN1_uc001obq.2_Missense_Mutation_p.A242V|MEN1_uc001obr.2_Missense_Mutation_p.A242V	NM_130800	NP_570712	O00255	MEN1_HUMAN	menin isoform 1	242	Interaction with FANCD2.				DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.A242_I247del(1)		parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238								D|Mis|N|F|S		parathyroid tumors|Pancreatic neuroendocrine tumors	parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid			Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1				---	---	---	---
ATG2A	23130	broad.mit.edu	37	11	64676743	64676743	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64676743T>G	uc001obx.2	-	15	2319	c.2204A>C	c.(2203-2205)CAG>CCG	p.Q735P		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	735							protein binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
KLC2	64837	broad.mit.edu	37	11	66033586	66033586	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66033586G>A	uc010rov.1	+	14	1868	c.1625G>A	c.(1624-1626)CGC>CAC	p.R542H	KLC2_uc010row.1_Missense_Mutation_p.R542H|KLC2_uc009yra.2_Intron|KLC2_uc001ohb.2_Missense_Mutation_p.R542H|KLC2_uc010rox.1_Missense_Mutation_p.R465H|KLC2_uc001ohc.2_Missense_Mutation_p.R542H|KLC2_uc001ohd.2_Missense_Mutation_p.R465H|KLC2_uc001ohe.1_Missense_Mutation_p.R403H|RAB1B_uc001ohf.2_5'Flank	NM_001134775	NP_001128247	Q9H0B6	KLC2_HUMAN	kinesin light chain 2 isoform 1	542					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0																		---	---	---	---
CCDC87	55231	broad.mit.edu	37	11	66359936	66359936	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66359936C>A	uc001oiq.3	-	1	619	c.551G>T	c.(550-552)AGG>ATG	p.R184M	CCS_uc001oir.2_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	184										ovary(1)|skin(1)	2																		---	---	---	---
RBM4	5936	broad.mit.edu	37	11	66411194	66411194	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66411194G>A	uc009yrj.2	+	3	1174	c.686G>A	c.(685-687)CGG>CAG	p.R229Q	RBM4_uc009yrk.2_Missense_Mutation_p.R204Q|RBM4_uc001oiw.1_Missense_Mutation_p.R229Q|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Missense_Mutation_p.R229Q|RBM4_uc001oiz.1_Missense_Mutation_p.R229Q	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	229	Interaction with TNPO3.				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)														---	---	---	---
CHKA	1119	broad.mit.edu	37	11	67821508	67821508	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67821508C>T	uc001onj.2	-	12	1535	c.1321G>A	c.(1321-1323)GCC>ACC	p.A441T	CHKA_uc001onk.2_Missense_Mutation_p.A423T	NM_001277	NP_001268	P35790	CHKA_HUMAN	choline kinase alpha isoform a	441					lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity			ovary(1)|central_nervous_system(1)	2					Choline(DB00122)													---	---	---	---
FCHSD2	9873	broad.mit.edu	37	11	72553749	72553749	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:72553749G>A	uc009ytl.2	-	17	2064	c.1843C>T	c.(1843-1845)CGT>TGT	p.R615C	FCHSD2_uc010rrg.1_Missense_Mutation_p.R479C|FCHSD2_uc001oth.3_Missense_Mutation_p.R559C|ATG16L2_uc009ytj.1_3'UTR	NM_014824	NP_055639	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	615	SH3 2.						protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)															---	---	---	---
RELT	84957	broad.mit.edu	37	11	73106270	73106270	+	Silent	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:73106270G>T	uc001otv.2	+	10	1350	c.1185G>T	c.(1183-1185)CTG>CTT	p.L395L	RELT_uc001otw.2_Silent_p.L395L|RELT_uc001otx.2_RNA	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor precursor	395	Cytoplasmic (Potential).					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
XRRA1	143570	broad.mit.edu	37	11	74562191	74562191	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74562191C>T	uc009yub.2	-	14	1630	c.1298G>A	c.(1297-1299)CGA>CAA	p.R433Q	XRRA1_uc001ovm.2_RNA|XRRA1_uc001ovn.2_Missense_Mutation_p.R56Q|XRRA1_uc001ovo.2_Missense_Mutation_p.R41Q|XRRA1_uc001ovq.3_Missense_Mutation_p.R346Q|XRRA1_uc001ovp.3_Missense_Mutation_p.R158Q|XRRA1_uc001ovr.2_Missense_Mutation_p.R56Q|XRRA1_uc001ovs.1_Intron	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	433					response to X-ray	cytoplasm|nucleus				central_nervous_system(1)	1																		---	---	---	---
NEU3	10825	broad.mit.edu	37	11	74716692	74716692	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74716692G>A	uc001ovw.2	+	3	697	c.541G>A	c.(541-543)GTC>ATC	p.V181I	NEU3_uc001ovv.2_Missense_Mutation_p.V171I|NEU3_uc010rrl.1_Missense_Mutation_p.V72I	NM_006656	NP_006647	A8K327	A8K327_HUMAN	sialidase 3	181										ovary(2)	2																		---	---	---	---
RSF1	51773	broad.mit.edu	37	11	77383228	77383228	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77383228G>A	uc001oyn.2	-	15	3730	c.3610C>T	c.(3610-3612)CGA>TGA	p.R1204*	RSF1_uc001oym.2_Nonsense_Mutation_p.R952*	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1204	Arg-rich.				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)															---	---	---	---
DLG2	1740	broad.mit.edu	37	11	83691553	83691553	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:83691553A>G	uc001paj.2	-	7	1040	c.737T>C	c.(736-738)CTA>CCA	p.L246P	DLG2_uc001pai.2_Missense_Mutation_p.L195P|DLG2_uc010rsy.1_Missense_Mutation_p.L213P|DLG2_uc010rsz.1_Missense_Mutation_p.L246P|DLG2_uc010rta.1_Missense_Mutation_p.L246P|DLG2_uc001pak.2_Missense_Mutation_p.L351P|DLG2_uc010rtb.1_Missense_Mutation_p.L213P|DLG2_uc001pal.1_Missense_Mutation_p.L246P|DLG2_uc001pam.1_Missense_Mutation_p.L285P	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	246	PDZ 2.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)																---	---	---	---
DLG2	1740	broad.mit.edu	37	11	84028016	84028016	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:84028016C>T	uc001paj.2	-						DLG2_uc010rsz.1_Intron|DLG2_uc010rta.1_Intron|DLG2_uc001pak.2_Intron|DLG2_uc001pal.1_Intron|DLG2_uc001pam.1_Missense_Mutation_p.G58D	NM_001364	NP_001355			chapsyn-110 isoform 2							cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)																---	---	---	---
NAALAD2	10003	broad.mit.edu	37	11	89896482	89896482	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:89896482G>A	uc001pdf.3	+	10	1189	c.1080G>A	c.(1078-1080)AGG>AGA	p.R360R	NAALAD2_uc009yvx.2_Silent_p.R327R|NAALAD2_uc009yvy.2_Intron|NAALAD2_uc001pde.2_Silent_p.R267R	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	360	Extracellular (Potential).|NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)|skin(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)																---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92564790	92564790	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92564790A>G	uc001pdj.3	+	13	9501	c.9484A>G	c.(9484-9486)ATC>GTC	p.I3162V		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3162	Cadherin 29.|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)			---	---	---	---
PIWIL4	143689	broad.mit.edu	37	11	94328536	94328536	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:94328536T>C	uc001pfa.2	+	10	1423	c.1212T>C	c.(1210-1212)CGT>CGC	p.R404R	PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	piwi-like 4	404					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			skin(1)	1		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)																---	---	---	---
PGR	5241	broad.mit.edu	37	11	100909916	100909916	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:100909916T>G	uc001pgh.2	-	8	3476	c.2733A>C	c.(2731-2733)GAA>GAC	p.E911D	PGR_uc001pgg.2_Missense_Mutation_p.E292D|PGR_uc001pgi.2_Missense_Mutation_p.E809D|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	911	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)													---	---	---	---
TRPC6	7225	broad.mit.edu	37	11	101375456	101375456	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:101375456G>A	uc001pgk.3	-	2	669	c.244C>T	c.(244-246)CGA>TGA	p.R82*	TRPC6_uc009ywy.2_Nonsense_Mutation_p.R82*|TRPC6_uc009ywz.1_Nonsense_Mutation_p.R82*	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	82	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)														---	---	---	---
ANGPTL5	253935	broad.mit.edu	37	11	101762047	101762047	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:101762047A>G	uc001pgl.2	-	9	1726	c.1130T>C	c.(1129-1131)ATG>ACG	p.M377T		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5 precursor	377	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			ovary(1)	1		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)														---	---	---	---
SIK2	23235	broad.mit.edu	37	11	111594498	111594498	+	Missense_Mutation	SNP	G	A	A	rs34223841	byFrequency	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:111594498G>A	uc001plt.2	+	15	2544	c.2426G>A	c.(2425-2427)CGG>CAG	p.R809Q		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	SNF1-like kinase 2	809					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																		---	---	---	---
DIXDC1	85458	broad.mit.edu	37	11	111866267	111866267	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:111866267G>A	uc001pml.2	+	17	1965	c.1668G>A	c.(1666-1668)ACG>ACA	p.T556T	DIXDC1_uc001pmm.2_Silent_p.T345T|DIXDC1_uc001pmn.2_Silent_p.T262T|DIXDC1_uc010rwq.1_Silent_p.T221T	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	DIX domain containing 1 isoform a	556					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)														---	---	---	---
HTR3A	3359	broad.mit.edu	37	11	113857293	113857293	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113857293C>A	uc010rxb.1	+	7	1010	c.777C>A	c.(775-777)AGC>AGA	p.S259R	HTR3A_uc010rxa.1_Missense_Mutation_p.S259R|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Missense_Mutation_p.S238R	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	253	Helical; Name=1; (Potential).				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)													---	---	---	---
CEP164	22897	broad.mit.edu	37	11	117280458	117280458	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117280458G>A	uc001prc.2	+	30	4020	c.3873G>A	c.(3871-3873)CCG>CCA	p.P1291P	CEP164_uc001prb.2_Silent_p.P1286P|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Silent_p.P716P	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1291					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	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;4e-05)|Epithelial(105;0.0008)														---	---	---	---
MLL	4297	broad.mit.edu	37	11	118373724	118373724	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118373724C>A	uc001pta.2	+	27	7131	c.7108C>A	c.(7108-7110)CTC>ATC	p.L2370I	MLL_uc001ptb.2_Missense_Mutation_p.L2373I	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	2370					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								---	---	---	---
HYOU1	10525	broad.mit.edu	37	11	118919524	118919524	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118919524G>A	uc001puu.2	-	18	2260	c.2067C>T	c.(2065-2067)CCC>CCT	p.P689P	HYOU1_uc001put.2_Silent_p.P654P|HYOU1_uc010ryu.1_Silent_p.P647P|HYOU1_uc010ryv.1_Silent_p.P578P|HYOU1_uc001pux.3_Silent_p.P689P|HYOU1_uc010ryw.1_RNA	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1 precursor	689						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)														---	---	---	---
C2CD2L	9854	broad.mit.edu	37	11	118983195	118983195	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118983195A>G	uc001pvo.2	+	9	1447	c.1088A>G	c.(1087-1089)GAA>GGA	p.E363G	C2CD2L_uc001pvn.2_Missense_Mutation_p.E363G	NM_014807	NP_055622	O14523	C2C2L_HUMAN	transmembrane protein 24	363						integral to membrane					0																		---	---	---	---
PVRL1	5818	broad.mit.edu	37	11	119535676	119535676	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119535676G>A	uc001pwv.2	-	6	1507	c.1335C>T	c.(1333-1335)GGC>GGT	p.G445G	PVRL1_uc001pwu.1_Intron	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 isoform 1	445	Poly-Gly.|Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity				0		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)														---	---	---	---
PVRL1	5818	broad.mit.edu	37	11	119549297	119549297	+	Silent	SNP	G	A	A	rs150914244		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119549297G>A	uc001pwv.2	-	2	430	c.258C>T	c.(256-258)GGC>GGT	p.G86G	PVRL1_uc001pwu.1_Silent_p.G86G|PVRL1_uc001pww.2_Silent_p.G86G	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 isoform 1	86	Extracellular (Potential).|Ig-like V-type.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity				0		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)														---	---	---	---
OR6M1	390261	broad.mit.edu	37	11	123676666	123676666	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123676666G>A	uc010rzz.1	-	1	392	c.392C>T	c.(391-393)ACG>ATG	p.T131M		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M,	131	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)														---	---	---	---
OR8B8	26493	broad.mit.edu	37	11	124310482	124310482	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124310482G>A	uc010sal.1	-	1	500	c.500C>T	c.(499-501)ACC>ATC	p.T167I		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B,	167	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)														---	---	---	---
SRPR	6734	broad.mit.edu	37	11	126136758	126136758	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:126136758C>T	uc001qdh.2	-	5	637	c.586G>A	c.(586-588)GTG>ATG	p.V196M	SRPR_uc010sbm.1_Missense_Mutation_p.V168M|FOXRED1_uc001qdi.2_5'Flank|FOXRED1_uc010sbn.1_5'Flank|FOXRED1_uc010sbo.1_5'Flank|FOXRED1_uc010sbp.1_5'Flank|FOXRED1_uc010sbq.1_5'Flank|FOXRED1_uc001qdj.2_5'Flank|FOXRED1_uc010sbr.1_5'Flank	NM_003139	NP_003130	P08240	SRPR_HUMAN	signal recognition particle receptor	196					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding				0	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)														---	---	---	---
FOXRED1	55572	broad.mit.edu	37	11	126146096	126146096	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:126146096C>A	uc001qdi.2	+	8	1000	c.953C>A	c.(952-954)CCT>CAT	p.P318H	FOXRED1_uc010sbn.1_Missense_Mutation_p.P148H|FOXRED1_uc010sbo.1_RNA|FOXRED1_uc010sbp.1_Missense_Mutation_p.P131H|FOXRED1_uc010sbq.1_Missense_Mutation_p.P185H|FOXRED1_uc001qdj.2_Missense_Mutation_p.P107H|FOXRED1_uc010sbr.1_Missense_Mutation_p.P304H|FOXRED1_uc001qdk.2_Missense_Mutation_p.P107H	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing	318						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)														---	---	---	---
KIRREL3	84623	broad.mit.edu	37	11	126314938	126314938	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:126314938G>A	uc001qea.2	-	10	1549	c.1188C>T	c.(1186-1188)TAC>TAT	p.Y396Y	KIRREL3_uc001qeb.2_Silent_p.Y396Y|KIRREL3_uc001qec.1_Silent_p.Y396Y	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 isoform 1	396	Extracellular (Potential).|Ig-like C2-type 4.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			ovary(3)	3	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)														---	---	---	---
NFRKB	4798	broad.mit.edu	37	11	129739602	129739602	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:129739602G>A	uc001qfi.2	-	24	3519	c.3318C>T	c.(3316-3318)ACC>ACT	p.T1106T	NFRKB_uc001qfg.2_Silent_p.T1131T|NFRKB_uc001qfh.2_Silent_p.T1129T|NFRKB_uc010sbw.1_Silent_p.T1116T|NFRKB_uc009zcr.2_Silent_p.T392T	NM_001143835	NP_001137307	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1106					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)														---	---	---	---
GLB1L3	112937	broad.mit.edu	37	11	134147096	134147096	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:134147096G>A	uc009zdf.2	+						GLB1L3_uc010scs.1_Intron|GLB1L3_uc010sct.1_5'Flank	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)														---	---	---	---
GLB1L3	112937	broad.mit.edu	37	11	134147121	134147121	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:134147121G>A	uc009zdf.2	+						GLB1L3_uc010scs.1_Intron|GLB1L3_uc010sct.1_5'Flank	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)														---	---	---	---
HSN2	378465	broad.mit.edu	37	12	978006	978006	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:978006C>T	uc001qiq.2	+	1	1137	c.1011C>T	c.(1009-1011)ATC>ATT	p.I337I	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)															---	---	---	---
CACNA2D4	93589	broad.mit.edu	37	12	1994247	1994247	+	Intron	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:1994247C>A	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)														---	---	---	---
FGF6	2251	broad.mit.edu	37	12	4554633	4554633	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:4554633A>G	uc001qmr.1	-	1	148	c.104T>C	c.(103-105)GTG>GCG	p.V35A		NM_020996	NP_066276	P10767	FGF6_HUMAN	fibroblast growth factor 6 precursor	35					angiogenesis|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	growth factor activity			lung(2)|ovary(1)	3			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)															---	---	---	---
KCNA6	3742	broad.mit.edu	37	12	4920241	4920241	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:4920241G>A	uc001qng.2	+	1	1900	c.1034G>A	c.(1033-1035)CGC>CAC	p.R345H		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	345	Helical; Voltage-sensor; Name=Segment S4; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3															HNSCC(72;0.22)			---	---	---	---
PLEKHG6	55200	broad.mit.edu	37	12	6422807	6422807	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6422807C>T	uc001qnr.2	+	3	299	c.151C>T	c.(151-153)CGA>TGA	p.R51*	PLEKHG6_uc001qns.2_Nonsense_Mutation_p.R51*|PLEKHG6_uc010sew.1_Nonsense_Mutation_p.R51*|PLEKHG6_uc010sex.1_Nonsense_Mutation_p.R19*	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain-containing family G	51					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|skin(1)	2																		---	---	---	---
PLEKHG6	55200	broad.mit.edu	37	12	6435695	6435695	+	Silent	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6435695C>A	uc001qnr.2	+	14	1774	c.1626C>A	c.(1624-1626)CCC>CCA	p.P542P	PLEKHG6_uc010sew.1_Silent_p.P542P|PLEKHG6_uc010sex.1_Silent_p.P510P	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain-containing family G	542					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|skin(1)	2																		---	---	---	---
TNFRSF1A	7132	broad.mit.edu	37	12	6450990	6450990	+	5'UTR	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6450990C>A	uc001qnu.2	-	1					TNFRSF1A_uc010sey.1_5'UTR|TNFRSF1A_uc010sez.1_5'UTR|TNFRSF1A_uc009zek.2_5'UTR|TNFRSF1A_uc010sfa.1_5'UTR	NM_001065	NP_001056			tumor necrosis factor receptor 1 precursor						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																		---	---	---	---
NCAPD2	9918	broad.mit.edu	37	12	6637928	6637928	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6637928A>G	uc001qoo.2	+	26	3429	c.3383A>G	c.(3382-3384)AAG>AGG	p.K1128R	NCAPD2_uc010sfd.1_Missense_Mutation_p.K1083R	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1128					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5																		---	---	---	---
ZNF384	171017	broad.mit.edu	37	12	6781678	6781678	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6781678G>A	uc010sfh.1	-	8	1140	c.932C>T	c.(931-933)ACG>ATG	p.T311M	ZNF384_uc001qpz.2_Intron|ZNF384_uc001qqa.2_Intron|ZNF384_uc001qqb.2_Intron|ZNF384_uc001qqc.2_Intron|ZNF384_uc001qqd.2_Intron|ZNF384_uc001qqe.2_Intron	NM_001135734	NP_001129206	Q8TF68	ZN384_HUMAN	nuclear matrix transcription factor 4 isoform d	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(3)|kidney(1)	8								T	EWSR1|TAF15 	ALL								---	---	---	---
PEX5	5830	broad.mit.edu	37	12	7361095	7361095	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7361095G>A	uc009zfu.1	+	14	1804	c.1224G>A	c.(1222-1224)GCG>GCA	p.A408A	PEX5_uc001qsw.2_Silent_p.A408A|PEX5_uc010sgc.1_Silent_p.A423A|PEX5_uc001qsu.2_Silent_p.A371A|PEX5_uc010sgd.1_Silent_p.A429A|PEX5_uc001qsv.2_Silent_p.A400A	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5 isoform d	408	TPR 3.				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																		---	---	---	---
GUCY2C	2984	broad.mit.edu	37	12	14796578	14796578	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14796578G>A	uc001rcd.2	-	17	1997	c.1860C>T	c.(1858-1860)TGC>TGT	p.C620C		NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	620	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																		---	---	---	---
RERG	85004	broad.mit.edu	37	12	15262151	15262151	+	Nonsense_Mutation	SNP	G	A	A	rs141738265		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:15262151G>A	uc001rcs.2	-	4	633	c.493C>T	c.(493-495)CGA>TGA	p.R165*	RERG_uc001rct.2_Nonsense_Mutation_p.R165*|RERG_uc010shu.1_Nonsense_Mutation_p.R146*	NM_032918	NP_116307	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	165					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			lung(1)	1																		---	---	---	---
ST8SIA1	6489	broad.mit.edu	37	12	22408252	22408252	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:22408252G>A	uc001rfo.3	-	3	935	c.453C>T	c.(451-453)GGC>GGT	p.G151G	ST8SIA1_uc009zix.2_Intron	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	alpha-2,8-sialyltransferase 1	151	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(3)	3																		---	---	---	---
PTHLH	5744	broad.mit.edu	37	12	28123021	28123021	+	5'Flank	SNP	G	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:28123021G>C	uc001rik.2	-						PTHLH_uc001ril.2_5'UTR|PTHLH_uc001rim.2_5'Flank|PTHLH_uc001rin.2_5'UTR	NM_198966	NP_945317			parathyroid hormone-like hormone isoform 1						activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)	1	Lung SC(9;0.184)																	---	---	---	---
CAPRIN2	65981	broad.mit.edu	37	12	30866822	30866822	+	Intron	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:30866822A>C	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	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)																	---	---	---	---
SLC2A13	114134	broad.mit.edu	37	12	40158332	40158332	+	Silent	SNP	T	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:40158332T>A	uc010skm.1	-	9	1701	c.1650A>T	c.(1648-1650)GGA>GGT	p.G550G	C12orf40_uc009zjv.1_Intron	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose	550	Helical; Name=11; (Potential).					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)			---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40631824	40631824	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:40631824T>G	uc001rmg.3	+	5	611	c.490T>G	c.(490-492)TTT>GTT	p.F164V		NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	164					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)																---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43770328	43770328	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:43770328G>A	uc010skx.1	-	33	5124	c.5124C>T	c.(5122-5124)GAC>GAT	p.D1708D		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1708	TSP type-1 15.					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)														---	---	---	---
NELL2	4753	broad.mit.edu	37	12	45004675	45004675	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:45004675C>T	uc001rog.2	-	14	2118	c.1523G>A	c.(1522-1524)TGT>TAT	p.C508Y	NELL2_uc001rof.3_Missense_Mutation_p.C507Y|NELL2_uc001roh.2_Missense_Mutation_p.C508Y|NELL2_uc009zkd.2_Missense_Mutation_p.C507Y|NELL2_uc010skz.1_Missense_Mutation_p.C558Y|NELL2_uc010sla.1_Missense_Mutation_p.C531Y|NELL2_uc001roi.1_Missense_Mutation_p.C508Y|NELL2_uc010slb.1_Missense_Mutation_p.C507Y	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor	508	EGF-like 3.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)														---	---	---	---
WNT1	7471	broad.mit.edu	37	12	49374314	49374314	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49374314C>T	uc001rsu.2	+	3	664	c.466C>T	c.(466-468)CGG>TGG	p.R156W		NM_005430	NP_005421	P04628	WNT1_HUMAN	wingless-type MMTV integration site family,	156					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding			kidney(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.244)														---	---	---	---
LIMA1	51474	broad.mit.edu	37	12	50571305	50571305	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50571305C>T	uc001rwj.3	-	11	1996	c.1822G>A	c.(1822-1824)GTG>ATG	p.V608M	LIMA1_uc001rwg.3_Missense_Mutation_p.V306M|LIMA1_uc001rwh.3_Missense_Mutation_p.V447M|LIMA1_uc001rwi.3_Missense_Mutation_p.V449M|LIMA1_uc001rwk.3_Missense_Mutation_p.V609M|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1 isoform b	608					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			ovary(1)	1																		---	---	---	---
LIMA1	51474	broad.mit.edu	37	12	50575679	50575679	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50575679T>C	uc001rwj.3	-						LIMA1_uc001rwg.3_Intron|LIMA1_uc001rwh.3_Intron|LIMA1_uc001rwi.3_Intron|LIMA1_uc001rwk.3_Intron|LIMA1_uc010smr.1_Intron|LIMA1_uc010sms.1_Intron	NM_016357	NP_057441			LIM domain and actin binding 1 isoform b						actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			ovary(1)	1																		---	---	---	---
KRT73	319101	broad.mit.edu	37	12	53012094	53012094	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53012094C>T	uc001sas.2	-	1	250	c.215G>A	c.(214-216)GGA>GAA	p.G72E		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	72	Head.|Gly-rich.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)														---	---	---	---
TENC1	23371	broad.mit.edu	37	12	53451888	53451888	+	Splice_Site	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53451888T>C	uc001sbp.2	+	14	1230	c.1095_splice	c.e14+2	p.M365_splice	TENC1_uc001sbl.2_Splice_Site_p.M241_splice|TENC1_uc001sbn.2_Splice_Site_p.M375_splice|TENC1_uc001sbo.1_Splice_Site_p.M365_splice|TENC1_uc001sbq.2_5'Flank|TENC1_uc001sbr.2_5'Flank|TENC1_uc009zmr.2_5'Flank	NM_170754	NP_736610			tensin like C1 domain containing phosphatase						intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			ovary(1)|pancreas(1)	2																		---	---	---	---
SOAT2	8435	broad.mit.edu	37	12	53515103	53515103	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53515103C>T	uc001sbv.2	+	12	1242	c.1154C>T	c.(1153-1155)ACG>ATG	p.T385M	SOAT2_uc009zms.2_RNA	NM_003578	NP_003569	O75908	SOAT2_HUMAN	acyl-CoA:cholesterol acyltransferase 2	385					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			ovary(1)	1																		---	---	---	---
ZNF385A	25946	broad.mit.edu	37	12	54765373	54765373	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54765373G>A	uc001sfw.1	-	4	671	c.488C>T	c.(487-489)CCG>CTG	p.P163L	ZNF385A_uc001sfv.1_Missense_Mutation_p.P144L|ZNF385A_uc009zno.1_RNA|ZNF385A_uc010sov.1_Intron|ZNF385A_uc001sfx.1_Missense_Mutation_p.P163L|ZNF385A_uc001sfy.3_Missense_Mutation_p.P183L|ZNF385A_uc001sfz.3_Intron	NM_015481	NP_056296	Q96PM9	Z385A_HUMAN	zinc finger protein 385A isoform c	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			ovary(1)	1																		---	---	---	---
KIAA0748	9840	broad.mit.edu	37	12	55360194	55360194	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:55360194C>T	uc001sgn.3	-	6	435	c.325G>A	c.(325-327)GCC>ACC	p.A109T	KIAA0748_uc001sgl.3_5'UTR|KIAA0748_uc001sgm.3_5'UTR|KIAA0748_uc010spb.1_5'UTR|KIAA0748_uc010spc.1_5'UTR|KIAA0748_uc010spd.1_Missense_Mutation_p.A109T|KIAA0748_uc001sgo.3_RNA	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	109										ovary(1)|central_nervous_system(1)	2																		---	---	---	---
OR6C4	341418	broad.mit.edu	37	12	55945174	55945174	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:55945174C>G	uc010spp.1	+	1	164	c.164C>G	c.(163-165)ACC>AGC	p.T55S		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C,	55	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---
ITGA7	3679	broad.mit.edu	37	12	56082688	56082688	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56082688G>T	uc001shh.2	-	22	3130	c.2910C>A	c.(2908-2910)AGC>AGA	p.S970R	ITGA7_uc001shg.2_Missense_Mutation_p.S966R|ITGA7_uc010sps.1_Missense_Mutation_p.S873R|ITGA7_uc001shf.2_5'Flank|ITGA7_uc009znw.2_Missense_Mutation_p.S213R|ITGA7_uc009znx.2_Missense_Mutation_p.S847R	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	1010	Extracellular (Potential).				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																		---	---	---	---
PAN2	9924	broad.mit.edu	37	12	56718783	56718783	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56718783C>T	uc001skx.2	-						PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Intron|PAN2_uc001sky.2_Intron	NM_001127460	NP_001120932			PAN2 polyA specific ribonuclease subunit homolog						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																		---	---	---	---
GPR182	11318	broad.mit.edu	37	12	57389029	57389029	+	Silent	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57389029G>T	uc001smk.2	+	2	130	c.36G>T	c.(34-36)TCG>TCT	p.S12S	RDH16_uc010sqx.1_Intron	NM_007264	NP_009195	O15218	GP182_HUMAN	G protein-coupled receptor 182	12	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(1)	1																		---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57578995	57578995	+	Intron	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57578995C>A	uc001snd.2	+							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)													---	---	---	---
MON2	23041	broad.mit.edu	37	12	62926342	62926342	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:62926342G>T	uc001sre.2	+	12	1916	c.1525G>T	c.(1525-1527)GAG>TAG	p.E509*	MON2_uc009zqj.2_Nonsense_Mutation_p.E509*|MON2_uc010ssl.1_Nonsense_Mutation_p.E437*|MON2_uc010ssm.1_Nonsense_Mutation_p.E509*|MON2_uc010ssn.1_Nonsense_Mutation_p.E509*|MON2_uc001srf.2_Nonsense_Mutation_p.E272*	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	509					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)														---	---	---	---
CAND1	55832	broad.mit.edu	37	12	67696193	67696193	+	Missense_Mutation	SNP	G	T	T	rs4255614		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:67696193G>T	uc001stn.2	+	8	1528	c.1091G>T	c.(1090-1092)AGG>ATG	p.R364M	CAND1_uc001sto.2_Missense_Mutation_p.R42M	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	TIP120 protein	364	HEAT 8.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)														---	---	---	---
CAND1	55832	broad.mit.edu	37	12	67700125	67700125	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:67700125C>T	uc001stn.2	+	10	3114	c.2677C>T	c.(2677-2679)CCG>TCG	p.P893S	CAND1_uc001sto.2_Missense_Mutation_p.P403S	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	TIP120 protein	893	HEAT 21.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)														---	---	---	---
Unknown	0	broad.mit.edu	37	12	80633160	80633160	+	IGR	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:80633160C>T								PPP1R12A (303925 upstream) : PTPRQ (204966 downstream)																																			---	---	---	---
LRRIQ1	84125	broad.mit.edu	37	12	85445956	85445956	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:85445956A>G	uc001tac.2	+	7	791	c.680A>G	c.(679-681)CAA>CGA	p.Q227R	LRRIQ1_uc001tab.1_Missense_Mutation_p.Q227R|LRRIQ1_uc001taa.1_Intron	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	227	Glu-rich.									ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)														---	---	---	---
TMPO	7112	broad.mit.edu	37	12	98938068	98938068	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:98938068C>T	uc001tfj.2	+	5	961	c.724C>T	c.(724-726)CCT>TCT	p.P242S	TMPO_uc001tfk.2_Intron|TMPO_uc001tfl.2_Intron	NM_001032283	NP_001027454	P42167	LAP2B_HUMAN	thymopoietin isoform beta	242	Nucleoplasmic (Potential).|NAKAP95-binding N.					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			ovary(2)	2																		---	---	---	---
UHRF1BP1L	23074	broad.mit.edu	37	12	100444003	100444003	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:100444003T>C	uc001tgq.2	-	17	3890	c.3661A>G	c.(3661-3663)ACA>GCA	p.T1221A	UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.T871A	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	UHRF1 (ICBP90) binding protein 1-like isoform a	1221										ovary(2)	2																		---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104089412	104089412	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:104089412C>T	uc001tjw.2	+	32	3646	c.3460C>T	c.(3460-3462)CGG>TGG	p.R1154W		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1154	Extracellular (Potential).|FAS1 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14																		---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104149134	104149134	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:104149134C>A	uc001tjw.2	+	62	6955	c.6769C>A	c.(6769-6771)CCC>ACC	p.P2257T	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	2257	Extracellular (Potential).|Link.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14																		---	---	---	---
WSCD2	9671	broad.mit.edu	37	12	108620779	108620779	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:108620779G>A	uc001tms.2	+	6	1561	c.817G>A	c.(817-819)GCA>ACA	p.A273T	WSCD2_uc001tmt.2_Missense_Mutation_p.A273T|WSCD2_uc001tmu.2_Missense_Mutation_p.A21T	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	273	WSC 2.					integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3																		---	---	---	---
WSCD2	9671	broad.mit.edu	37	12	108634185	108634185	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:108634185C>T	uc001tms.2	+	8	1953	c.1209C>T	c.(1207-1209)AGC>AGT	p.S403S	WSCD2_uc001tmt.2_Silent_p.S403S|WSCD2_uc001tmu.2_Silent_p.S151S	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	403						integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3																		---	---	---	---
FAM109A	144717	broad.mit.edu	37	12	111800836	111800836	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:111800836G>A	uc001tsd.3	-	3	787	c.396C>T	c.(394-396)GGC>GGT	p.G132G	FAM109A_uc009zvu.2_Missense_Mutation_p.A113V|FAM109A_uc001tsc.2_Silent_p.G155G	NM_144671	NP_653272	Q8N4B1	SESQ1_HUMAN	hypothetical protein LOC144717	132					endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity				0																		---	---	---	---
DTX1	1840	broad.mit.edu	37	12	113515234	113515234	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113515234A>G	uc001tuk.1	+	2	601	c.265A>G	c.(265-267)ATG>GTG	p.M89V		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	89	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																		---	---	---	---
TBX5	6910	broad.mit.edu	37	12	114841708	114841708	+	5'UTR	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:114841708C>T	uc001tvo.2	-	2					TBX5_uc001tvp.2_5'UTR|TBX5_uc001tvq.2_Intron|TBX5_uc010syv.1_5'Flank	NM_181486	NP_852259			T-box 5 isoform 1						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)														---	---	---	---
KSR2	283455	broad.mit.edu	37	12	118198971	118198971	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:118198971C>T	uc001two.2	-	4	799	c.744G>A	c.(742-744)CCG>CCA	p.P248P		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	277	Pro-rich.				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)																	---	---	---	---
HIP1R	9026	broad.mit.edu	37	12	123345340	123345340	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123345340G>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)	---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	129559129	129559129	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:129559129T>G	uc009zyl.1	-	9	2919	c.2591A>C	c.(2590-2592)AAG>ACG	p.K864T	TMEM132D_uc001uia.2_Missense_Mutation_p.K402T	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	864	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)														---	---	---	---
ULK1	8408	broad.mit.edu	37	12	132401007	132401007	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132401007G>T	uc001uje.2	+	20	2211	c.1943G>T	c.(1942-1944)CGG>CTG	p.R648L		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	648					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)														---	---	---	---
EP400	57634	broad.mit.edu	37	12	132502083	132502083	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132502083T>C	uc001ujn.2	+	19	3962	c.3927T>C	c.(3925-3927)ACT>ACC	p.T1309T	EP400_uc001ujl.2_Silent_p.T1308T|EP400_uc001ujm.2_Silent_p.T1309T	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1345	Interactions with RUVBL1 and RUVBL2.				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)														---	---	---	---
PGAM5	192111	broad.mit.edu	37	12	133294630	133294630	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133294630G>A	uc009zyv.2	+	5	670	c.643G>A	c.(643-645)GCA>ACA	p.A215T	PGAM5_uc010tbr.1_RNA|PGAM5_uc001uku.2_Missense_Mutation_p.A215T	NM_138575	NP_612642	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	215						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	133313524	133313524	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133313524C>T	uc001ukx.2	-	8	1615	c.1548G>A	c.(1546-1548)CCG>CCA	p.P516P	ANKLE2_uc009zyw.1_5'Flank|ANKLE2_uc001uky.3_Silent_p.P454P	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	516						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)														---	---	---	---
MPHOSPH8	54737	broad.mit.edu	37	13	20221438	20221438	+	Intron	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:20221438G>T	uc001umh.2	+						MPHOSPH8_uc001umf.1_Missense_Mutation_p.A409S|MPHOSPH8_uc001umg.2_Intron|MPHOSPH8_uc001umi.2_Intron	NM_017520	NP_059990			M-phase phosphoprotein 8						cell cycle	cytoplasm|nucleus					0		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)														---	---	---	---
CRYL1	51084	broad.mit.edu	37	13	21006389	21006389	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:21006389G>A	uc001une.2	-	5	564	c.485C>T	c.(484-486)CCG>CTG	p.P162L	CRYL1_uc001unf.2_Missense_Mutation_p.P140L|CRYL1_uc001ung.2_Missense_Mutation_p.P140L|CRYL1_uc010tcp.1_Missense_Mutation_p.P36L	NM_015974	NP_057058	Q9Y2S2	CRYL1_HUMAN	lambda-crystallin	162					fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity				0		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)														---	---	---	---
LATS2	26524	broad.mit.edu	37	13	21562308	21562308	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:21562308G>A	uc009zzs.2	-	4	1976	c.1611C>T	c.(1609-1611)TGC>TGT	p.C537C	LATS2_uc001unr.3_Silent_p.C537C	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	537					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)														---	---	---	---
FGF9	2254	broad.mit.edu	37	13	22246092	22246092	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:22246092A>G	uc001uog.2	+	1	878	c.41A>G	c.(40-42)CAG>CGG	p.Q14R		NM_002010	NP_002001	P31371	FGF9_HUMAN	fibroblast growth factor 9 precursor	14					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	23907766	23907766	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:23907766T>G	uc001uon.2	-	10	10838	c.10249A>C	c.(10249-10251)AGT>CGT	p.S3417R	SACS_uc001uoo.2_Missense_Mutation_p.S3270R|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3417					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)														---	---	---	---
SACS	26278	broad.mit.edu	37	13	23911305	23911305	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:23911305T>C	uc001uon.2	-	10	7299	c.6710A>G	c.(6709-6711)GAA>GGA	p.E2237G	SACS_uc001uoo.2_Missense_Mutation_p.E2090G|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2237					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)														---	---	---	---
PARP4	143	broad.mit.edu	37	13	25009030	25009030	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25009030G>A	uc001upl.2	-	31	4355	c.4249C>T	c.(4249-4251)CCT>TCT	p.P1417S		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1417					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)														---	---	---	---
RNF17	56163	broad.mit.edu	37	13	25399909	25399909	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25399909C>T	uc001upr.2	+	16	2285	c.2244C>T	c.(2242-2244)ATC>ATT	p.I748I	RNF17_uc010tdd.1_Silent_p.I607I|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Silent_p.I748I|RNF17_uc001ups.2_Silent_p.I687I	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	748	Tudor 1.				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	25484117	25484117	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25484117G>A	uc001upt.3	-	4	929	c.676C>T	c.(676-678)CCA>TCA	p.P226S	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	226					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)														---	---	---	---
PAN3	255967	broad.mit.edu	37	13	28750707	28750707	+	Intron	SNP	A	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:28750707A>T	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)														---	---	---	---
FRY	10129	broad.mit.edu	37	13	32783063	32783063	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32783063G>A	uc001utx.2	+	32	4588	c.4092G>A	c.(4090-4092)CTG>CTA	p.L1364L	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1364					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	32931894	32931894	+	Missense_Mutation	SNP	G	A	A	rs80358990		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32931894G>A	uc001uub.1	+	16	7860	c.7633G>A	c.(7633-7635)GTT>ATT	p.V2545I		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2545	Interaction with FANCD2.				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)			---	---	---	---
RFC3	5983	broad.mit.edu	37	13	34404030	34404030	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:34404030G>A	uc001uuz.2	+	5	559	c.449G>A	c.(448-450)AGA>AAA	p.R150K	RFC3_uc001uva.2_Missense_Mutation_p.R150K|RFC3_uc010ted.1_Missense_Mutation_p.R150K	NM_002915	NP_002906	P40938	RFC3_HUMAN	replication factor C 3 isoform 1	150					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	35923259	35923259	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:35923259C>T	uc001uvb.2	+	37	6124	c.5918C>T	c.(5917-5919)GCT>GTT	p.A1973V	NBEA_uc010abi.2_Missense_Mutation_p.A629V	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	1973						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)														---	---	---	---
CCNA1	8900	broad.mit.edu	37	13	37012857	37012857	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:37012857A>T	uc001uvr.3	+	5	1096	c.746A>T	c.(745-747)GAC>GTC	p.D249V	CCNA1_uc010teo.1_Missense_Mutation_p.D205V|CCNA1_uc010abq.2_Missense_Mutation_p.D205V|CCNA1_uc010abp.2_Missense_Mutation_p.D205V|CCNA1_uc001uvs.3_Missense_Mutation_p.D248V|CCNA1_uc010abr.2_Intron	NM_003914	NP_003905	P78396	CCNA1_HUMAN	cyclin A1 isoform a	249					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			lung(2)|skin(2)|ovary(1)	5		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;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)														---	---	---	---
TRPC4	7223	broad.mit.edu	37	13	38213170	38213170	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:38213170T>C	uc001uws.2	-						TRPC4_uc010abv.2_Intron|TRPC4_uc001uwt.2_Intron|TRPC4_uc010tey.1_Intron|TRPC4_uc010abw.2_Intron|TRPC4_uc010abx.2_Intron|TRPC4_uc010aby.2_Intron	NM_016179	NP_057263			transient receptor potential cation channel,						axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)														---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39262365	39262365	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:39262365G>T	uc001uwv.2	+	1	1193	c.884G>T	c.(883-885)AGC>ATC	p.S295I		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	295	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	39264188	39264188	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:39264188G>T	uc001uwv.2	+	1	3016	c.2707G>T	c.(2707-2709)GCC>TCC	p.A903S		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	903	CSPG 5.|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)														---	---	---	---
KIAA0564	23078	broad.mit.edu	37	13	42149928	42149928	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:42149928A>G	uc001uyj.2	-	43	5388	c.5318T>C	c.(5317-5319)GTT>GCT	p.V1773A		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	1773	VWFA.					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)														---	---	---	---
DNAJC15	29103	broad.mit.edu	37	13	43652796	43652796	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:43652796C>T	uc001uyy.2	+	4	684	c.283C>T	c.(283-285)CGA>TGA	p.R95*		NM_013238	NP_037370	Q9Y5T4	DJC15_HUMAN	DNAJ domain-containing	95						integral to membrane	heat shock protein binding				0		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)														---	---	---	---
SIAH3	283514	broad.mit.edu	37	13	46357608	46357608	+	Silent	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46357608C>A	uc001vap.2	-	2	802	c.720G>T	c.(718-720)TCG>TCT	p.S240S		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	seven in absentia homolog 3	240					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			ovary(1)|skin(1)	2																		---	---	---	---
RCBTB2	1102	broad.mit.edu	37	13	49084818	49084818	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:49084818A>G	uc001vch.2	-	10	1244	c.873T>C	c.(871-873)ACT>ACC	p.T291T	RCBTB2_uc010tgg.1_Silent_p.T296T|RCBTB2_uc001vci.2_Silent_p.T267T|RCBTB2_uc010tgh.1_Intron|RCBTB2_uc001vcj.2_Intron|RCBTB2_uc010acv.1_RNA|RCBTB2_uc010tgi.1_Intron	NM_001268	NP_001259	O95199	RCBT2_HUMAN	regulator of chromosome condensation and BTB	291	RCC1 5.						Ran guanyl-nucleotide exchange factor activity			ovary(2)|lung(2)|skin(1)	5		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)														---	---	---	---
THSD1	55901	broad.mit.edu	37	13	52951775	52951775	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:52951775G>T	uc001vgo.2	-	5	2875	c.2330C>A	c.(2329-2331)CCC>CAC	p.P777H	THSD1_uc001vgp.2_Missense_Mutation_p.P724H|THSD1_uc010tgz.1_Missense_Mutation_p.P398H|THSD1_uc010aea.2_Missense_Mutation_p.P238H	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	777	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)														---	---	---	---
PCDH9	5101	broad.mit.edu	37	13	66878841	66878841	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:66878841C>T	uc001vik.2	-	5	4352	c.3660G>A	c.(3658-3660)AAG>AAA	p.K1220K	PCDH9_uc010aei.2_RNA|PCDH9_uc001vil.2_Silent_p.K1186K|PCDH9_uc010thl.1_Silent_p.K1178K	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	1220	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)														---	---	---	---
PCDH9	5101	broad.mit.edu	37	13	67799528	67799528	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:67799528C>T	uc001vik.2	-						PCDH9_uc001vil.2_Intron|PCDH9_uc010thl.1_Intron|PCDH9_uc001vin.3_Silent_p.E1015E	NM_203487	NP_982354			protocadherin 9 isoform 1 precursor						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)														---	---	---	---
SLITRK1	114798	broad.mit.edu	37	13	84453981	84453981	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:84453981G>A	uc001vlk.2	-	1	2548	c.1662C>T	c.(1660-1662)AGC>AGT	p.S554S		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	554	LRRCT 2.|Extracellular (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)														---	---	---	---
DNAJC3	5611	broad.mit.edu	37	13	96443251	96443251	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:96443251C>T	uc001vmq.2	+	12	1590	c.1482C>T	c.(1480-1482)GGC>GGT	p.G494G	DNAJC3_uc001vmr.2_Silent_p.G443G	NM_006260	NP_006251	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	494					protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding				0	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)															---	---	---	---
UGGT2	55757	broad.mit.edu	37	13	96484958	96484958	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:96484958T>C	uc001vmt.2	-						UGGT2_uc001vms.2_Intron	NM_020121	NP_064506			UDP-glucose ceramide glucosyltransferase-like 2						post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
STK24	8428	broad.mit.edu	37	13	99134531	99134531	+	Silent	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:99134531G>T	uc001vnm.1	-	3	589	c.354C>A	c.(352-354)TCC>TCA	p.S118S	STK24_uc001vnn.1_Silent_p.S106S|STK24_uc010tim.1_Intron	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24 isoform a	118	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)															---	---	---	---
MYO16	23026	broad.mit.edu	37	13	109707413	109707413	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:109707413C>T	uc001vqt.1	+	26	3128	c.3002C>T	c.(3001-3003)ACT>ATT	p.T1001I	MYO16_uc010agk.1_Missense_Mutation_p.T1023I|MYO16_uc001vqu.1_Missense_Mutation_p.T801I|MYO16_uc010tjh.1_Missense_Mutation_p.T513I	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1001	Myosin head-like 2.				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)															---	---	---	---
IRS2	8660	broad.mit.edu	37	13	110438061	110438061	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:110438061C>T	uc001vqv.2	-	1	854	c.340G>A	c.(340-342)GCC>ACC	p.A114T		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	114	PH.				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)															---	---	---	---
COL4A1	1282	broad.mit.edu	37	13	110804777	110804777	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:110804777G>A	uc001vqw.3	-	51	4954	c.4832C>T	c.(4831-4833)GCG>GTG	p.A1611V	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1611	Collagen IV NC1.				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)															---	---	---	---
CARS2	79587	broad.mit.edu	37	13	111329449	111329449	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:111329449C>T	uc001vrd.2	-	7	697	c.657G>A	c.(655-657)GCG>GCA	p.A219A	CARS2_uc010tjm.1_RNA	NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial	219				LVGVVPGPVGEPADSDK -> IGRRGPWSSPETSGLLTS (in Ref. 4; BAB93499).	cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding				0	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)													---	---	---	---
MCF2L	23263	broad.mit.edu	37	13	113729379	113729379	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:113729379C>T	uc001vsu.2	+	11	1377	c.1355C>T	c.(1354-1356)GCG>GTG	p.A452V	MCF2L_uc001vsq.2_Missense_Mutation_p.A452V|MCF2L_uc010tjr.1_Missense_Mutation_p.A395V|MCF2L_uc001vsr.2_Missense_Mutation_p.A399V|MCF2L_uc001vss.3_Missense_Mutation_p.A393V|MCF2L_uc010tjs.1_Missense_Mutation_p.A393V|MCF2L_uc001vst.1_Missense_Mutation_p.A357V	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	425	Spectrin.				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)																---	---	---	---
MCF2L	23263	broad.mit.edu	37	13	113748914	113748914	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:113748914G>A	uc001vsu.2	+	27	3233	c.3211G>A	c.(3211-3213)GCA>ACA	p.A1071T	MCF2L_uc001vsq.2_Missense_Mutation_p.A1071T|MCF2L_uc010tjr.1_Missense_Mutation_p.A1014T|MCF2L_uc001vsr.2_Missense_Mutation_p.A1018T|MCF2L_uc010tjs.1_Missense_Mutation_p.A1012T	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	1044					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	113768258	113768258	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:113768258C>T	uc001vsv.2	+	5	465	c.414C>T	c.(412-414)GGC>GGT	p.G138G	F7_uc010agp.1_Silent_p.G131G|F7_uc001vsw.2_Silent_p.G116G|F7_uc010tjt.1_Silent_p.G69G	NM_000131	NP_000122	P08709	FA7_HUMAN	coagulation factor VII isoform a precursor	138	EGF-like 1; calcium-binding (Potential).		G -> D (in FA7D).		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)													---	---	---	---
TMCO3	55002	broad.mit.edu	37	13	114203860	114203860	+	3'UTR	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:114203860G>T	uc001vtu.3	+	13						NM_017905	NP_060375			transmembrane and coiled-coil domains 3							integral to membrane	solute:hydrogen antiporter activity				0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)															---	---	---	---
UPF3A	65110	broad.mit.edu	37	13	115048366	115048366	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:115048366C>T	uc001vup.2	+	3	406	c.369C>T	c.(367-369)GAC>GAT	p.D123D	UPF3A_uc010tkn.1_Silent_p.D123D|UPF3A_uc001vuq.2_Silent_p.D123D|UPF3A_uc001vus.2_Intron|UPF3A_uc001vur.2_RNA	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A	123	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			skin(1)	1	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)														---	---	---	---
OR4K13	390433	broad.mit.edu	37	14	20502927	20502927	+	5'Flank	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20502927T>G	uc010tkz.1	-							NM_001004714	NP_001004714			olfactory receptor, family 4, subfamily K,						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)														---	---	---	---
RPGRIP1	57096	broad.mit.edu	37	14	21813344	21813344	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21813344C>A	uc001wag.2	+	22	3605	c.3605C>A	c.(3604-3606)CCT>CAT	p.P1202H	RPGRIP1_uc001wah.2_Missense_Mutation_p.P844H|RPGRIP1_uc001wai.2_Missense_Mutation_p.P528H|RPGRIP1_uc001wak.2_Missense_Mutation_p.P677H|RPGRIP1_uc010aim.2_Missense_Mutation_p.P585H|RPGRIP1_uc001wal.2_Missense_Mutation_p.P561H|RPGRIP1_uc001wam.2_Missense_Mutation_p.P519H	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator	1202	Interaction with RPGR.				response to stimulus|visual perception	cilium				ovary(4)|breast(2)|pancreas(1)	7	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)														---	---	---	---
CHD8	57680	broad.mit.edu	37	14	21876666	21876666	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21876666C>T	uc001was.1	-	13	1792	c.1698G>A	c.(1696-1698)CAG>CAA	p.Q566Q	CHD8_uc001war.1_Silent_p.Q462Q|CHD8_uc001wav.1_Silent_p.Q8Q	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	845	Helicase ATP-binding.				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)														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22891861	22891861	+	Intron	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22891861G>T	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|uc001wds.1_Intron|uc001wdv.3_Missense_Mutation_p.R58M|uc001wdt.1_Intron|uc001wdu.2_Missense_Mutation_p.R58M					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
RBM23	55147	broad.mit.edu	37	14	23374320	23374320	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23374320T>C	uc001whg.2	-	8	908	c.709A>G	c.(709-711)ATT>GTT	p.I237V	RBM23_uc001whh.2_Missense_Mutation_p.I221V|RBM23_uc001whi.2_Missense_Mutation_p.I203V|RBM23_uc010tne.1_Missense_Mutation_p.I67V|RBM23_uc001whj.2_5'UTR|RBM23_uc001whk.1_Missense_Mutation_p.I237V	NM_001077351	NP_001070819	Q86U06	RBM23_HUMAN	RNA binding motif protein 23 isoform 1	237	RRM 1.				mRNA processing	nucleus	nucleotide binding|RNA binding			skin(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)														---	---	---	---
HAUS4	54930	broad.mit.edu	37	14	23416890	23416890	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23416890C>T	uc001whp.2	-	7	790	c.759G>A	c.(757-759)CGG>CGA	p.R253R	HAUS4_uc001who.2_RNA|HAUS4_uc001whq.2_Silent_p.R127R|HAUS4_uc001whr.2_Silent_p.R253R|HAUS4_uc001whs.2_Silent_p.R208R|HAUS4_uc001wht.2_Silent_p.R253R|HAUS4_uc001whu.2_Silent_p.R208R|HAUS4_uc001whv.2_Silent_p.R129R|HAUS4_uc001whw.2_Silent_p.R253R|HAUS4_uc001whx.2_Silent_p.R208R	NM_017815	NP_060285	Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	253					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				ovary(1)	1																		---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23868196	23868196	+	Silent	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23868196G>T	uc001wjv.2	-	15	1699	c.1632C>A	c.(1630-1632)GCC>GCA	p.A544A		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	544	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)														---	---	---	---
MYH7	4625	broad.mit.edu	37	14	23897852	23897852	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23897852T>C	uc001wjx.2	-	15	1541	c.1435A>G	c.(1435-1437)AAC>GAC	p.N479D		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	479	Myosin head-like.		N -> S (in CMH1).		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)														---	---	---	---
GMPR2	51292	broad.mit.edu	37	14	24707977	24707977	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24707977C>T	uc001wnr.2	+	10	1422	c.1040C>T	c.(1039-1041)GCG>GTG	p.A347V	GMPR2_uc001wnv.2_Missense_Mutation_p.A184V|GMPR2_uc001wns.2_Missense_Mutation_p.A347V|GMPR2_uc001wnt.2_Missense_Mutation_p.A314V|GMPR2_uc001wnu.2_Missense_Mutation_p.A372V|GMPR2_uc001wnw.2_Missense_Mutation_p.A347V|GMPR2_uc010all.2_Missense_Mutation_p.A319V|GMPR2_uc001wnx.2_Missense_Mutation_p.A365V|GMPR2_uc010tod.1_Missense_Mutation_p.A314V|GMPR2_uc010alk.1_Missense_Mutation_p.A408V|GMPR2_uc010toe.1_Missense_Mutation_p.A408V	NM_001002001	NP_001002001	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2 isoform 2	347					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)														---	---	---	---
CIDEB	27141	broad.mit.edu	37	14	24774855	24774855	+	Missense_Mutation	SNP	C	T	T	rs146066890		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24774855C>T	uc001won.2	-	5	768	c.644G>A	c.(643-645)CGC>CAC	p.R215H	CIDEB_uc001woo.2_Missense_Mutation_p.R215H|CIDEB_uc001wop.2_Missense_Mutation_p.R215H	NM_014430	NP_055245	Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b	215					apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis	cytosol					0				GBM - Glioblastoma multiforme(265;0.0181)														---	---	---	---
CBLN3	643866	broad.mit.edu	37	14	24897594	24897594	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24897594G>A	uc001wpg.3	-	2	789	c.318C>T	c.(316-318)GGC>GGT	p.G106G	KHNYN_uc010tpc.1_5'Flank|KHNYN_uc001wph.3_5'Flank|KHNYN_uc010alw.2_5'Flank	NM_001039771	NP_001034860	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	106	Necessary for interaction with CBLN3, and homotrimerization (By similarity).|C1q.					cell junction|extracellular region|synapse				central_nervous_system(1)	1				GBM - Glioblastoma multiforme(265;0.00159)														---	---	---	---
FOXG1	2290	broad.mit.edu	37	14	29237255	29237255	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:29237255T>C	uc001wqe.2	+	1	969	c.770T>C	c.(769-771)CTG>CCG	p.L257P		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	257	Fork-head.				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue 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			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)														---	---	---	---
AKAP6	9472	broad.mit.edu	37	14	33293172	33293172	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:33293172C>T	uc001wrq.2	+	13	6323	c.6153C>T	c.(6151-6153)GCC>GCT	p.A2051A		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	2051					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)														---	---	---	---
MIPOL1	145282	broad.mit.edu	37	14	37969313	37969313	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:37969313C>T	uc001wuc.2	+	13	1735	c.1232C>T	c.(1231-1233)GCC>GTC	p.A411V	MIPOL1_uc010amr.2_RNA|MIPOL1_uc001wub.3_Missense_Mutation_p.A380V|MIPOL1_uc001wud.2_Missense_Mutation_p.A411V|MIPOL1_uc010ams.2_Missense_Mutation_p.A411V|MIPOL1_uc001wue.2_Missense_Mutation_p.A380V|MIPOL1_uc010amt.2_Missense_Mutation_p.A230V	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	411	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)														---	---	---	---
C14orf106	55320	broad.mit.edu	37	14	45693641	45693641	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45693641G>A	uc001wwf.2	-	11	2608	c.2149C>T	c.(2149-2151)CGT>TGT	p.R717C		NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106	717					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0																		---	---	---	---
MGAT2	4247	broad.mit.edu	37	14	50088877	50088877	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:50088877T>A	uc001wwr.2	+	1	1389	c.891T>A	c.(889-891)AGT>AGA	p.S297R	SDCCAG1_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank	NM_002408	NP_002399	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein	297	Lumenal (Potential).				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity				0	all_epithelial(31;0.0021)|Breast(41;0.0124)																	---	---	---	---
MAP4K5	11183	broad.mit.edu	37	14	50911877	50911877	+	Silent	SNP	C	T	T	rs75696839	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:50911877C>T	uc001wya.2	-	18	1541	c.1221G>A	c.(1219-1221)CCG>CCA	p.P407P	MAP4K5_uc001wyb.2_Silent_p.P407P|MAP4K5_uc010anv.1_Silent_p.P407P|MAP4K5_uc001wyc.1_Silent_p.P81P	NM_006575	NP_006566	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase	407					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	51237224	51237224	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:51237224T>C	uc001wym.2	-	12	1507	c.1316A>G	c.(1315-1317)AAA>AGA	p.K439R	NIN_uc001wyi.2_Missense_Mutation_p.K439R|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.K439R|NIN_uc010tqp.1_Missense_Mutation_p.K445R|NIN_uc001wyo.2_Missense_Mutation_p.K439R|NIN_uc001wyp.1_Missense_Mutation_p.K401R	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	439	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								---	---	---	---
CDKN3	1033	broad.mit.edu	37	14	54884554	54884554	+	Intron	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:54884554A>G	uc001xap.2	+						CDKN3_uc001xar.2_Intron|CDKN3_uc001xaq.2_Intron|CDKN3_uc001xas.1_Intron|CDKN3_uc010aoj.1_Intron	NM_005192	NP_005183			cyclin-dependent kinase inhibitor 3 isoform 1						cell cycle arrest|G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	perinuclear region of cytoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0																		---	---	---	---
CDKN3	1033	broad.mit.edu	37	14	54886793	54886793	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:54886793A>G	uc001xap.2	+	8	750	c.636A>G	c.(634-636)AGA>AGG	p.R212R	CDKN3_uc001xar.2_Silent_p.R172R|CDKN3_uc001xaq.2_Silent_p.R211R|CDKN3_uc001xas.1_RNA|CDKN3_uc010aoj.1_RNA	NM_005192	NP_005183	Q16667	CDKN3_HUMAN	cyclin-dependent kinase inhibitor 3 isoform 1	212					cell cycle arrest|G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	perinuclear region of cytoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0																		---	---	---	---
DAAM1	23002	broad.mit.edu	37	14	59821946	59821946	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:59821946T>C	uc001xdz.1	+	21	2575	c.2450T>C	c.(2449-2451)GTT>GCT	p.V817A	DAAM1_uc001xea.1_Missense_Mutation_p.V807A|DAAM1_uc001xec.1_RNA	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	dishevelled-associated activator of	817	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.165)														---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64519852	64519852	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:64519852A>G	uc001xgm.2	+	48	9451	c.9221A>G	c.(9220-9222)GAT>GGT	p.D3074G	SYNE2_uc001xgl.2_Missense_Mutation_p.D3074G|SYNE2_uc010apw.1_5'Flank	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3074	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)														---	---	---	---
MTHFD1	4522	broad.mit.edu	37	14	64908801	64908801	+	Silent	SNP	G	A	A	rs143959060	byFrequency	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:64908801G>A	uc001xhb.2	+	20	2301	c.1914G>A	c.(1912-1914)CCG>CCA	p.P638P	MTHFD1_uc010aqf.2_Silent_p.P694P	NM_005956	NP_005947	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase 1	638	Formyltetrahydrofolate synthetase.				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)													---	---	---	---
ACTN1	87	broad.mit.edu	37	14	69358883	69358883	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:69358883G>A	uc001xkl.2	-	10	1283	c.973C>T	c.(973-975)CCG>TCG	p.P325S	ACTN1_uc010ttb.1_Missense_Mutation_p.P260S|ACTN1_uc001xkm.2_Missense_Mutation_p.P325S|ACTN1_uc001xkn.2_Missense_Mutation_p.P325S|ACTN1_uc001xko.1_Missense_Mutation_p.P260S|ACTN1_uc010ttd.1_Missense_Mutation_p.P304S	NM_001102	NP_001093	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform b	325	Spectrin 1.|Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)														---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71443908	71443908	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:71443908G>A	uc001xmo.2	+	6	1300	c.854G>A	c.(853-855)CGG>CAG	p.R285Q	PCNX_uc001xmn.3_Missense_Mutation_p.R285Q|PCNX_uc010are.1_Missense_Mutation_p.R285Q	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	285						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)														---	---	---	---
DLST	1743	broad.mit.edu	37	14	75349290	75349290	+	Intron	SNP	A	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75349290A>T	uc001xqv.2	+						DLST_uc001xqu.2_Intron|DLST_uc001xqt.2_Intron|DLST_uc010tuw.1_Intron|DLST_uc010tuu.1_Intron|DLST_uc001xqs.2_Intron|DLST_uc010tuv.1_Intron	NM_001933	NP_001924			dihydrolipoamide S-succinyltransferase (E2						lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00698)														---	---	---	---
FAM164C	79696	broad.mit.edu	37	14	75537988	75537988	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75537988C>T	uc001xri.2	+	2	885	c.712C>T	c.(712-714)CTG>TTG	p.L238L	FAM164C_uc001xrh.2_Silent_p.L238L	NM_001042430	NP_001035895	Q53FD0	F164C_HUMAN	chromosome 14 open reading frame 140 isoform b	238	Potential.									ovary(1)	1																		---	---	---	---
VASH1	22846	broad.mit.edu	37	14	77242266	77242266	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:77242266C>T	uc001xst.2	+	5	1492	c.562C>T	c.(562-564)CGC>TGC	p.R188C		NM_014909	NP_055724	Q7L8A9	VASH1_HUMAN	vasohibin 1	188					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)														---	---	---	---
POMT2	29954	broad.mit.edu	37	14	77745128	77745128	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:77745128C>T	uc001xti.2	-	19	2177	c.1976G>A	c.(1975-1977)CGG>CAG	p.R659Q	POMT2_uc001xth.1_Missense_Mutation_p.R357Q	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	659	Helical; (Potential).				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)														---	---	---	---
CALM1	801	broad.mit.edu	37	14	90870757	90870757	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:90870757G>A	uc001xyl.1	+	5	522	c.320G>A	c.(319-321)CGT>CAT	p.R107H	CALM1_uc010atq.1_Missense_Mutation_p.R108H|CALM1_uc010atr.1_RNA|CALM1_uc001xym.1_Missense_Mutation_p.R71H	NM_006888	NP_008819	P62158	CALM_HUMAN	calmodulin 1 isoform 1	107	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			central_nervous_system(1)	1		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	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)													---	---	---	---
GPR68	8111	broad.mit.edu	37	14	91700767	91700767	+	Missense_Mutation	SNP	G	A	A	rs146326486		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:91700767G>A	uc001xzg.2	-	2	969	c.628C>T	c.(628-630)CGC>TGC	p.R210C	GPR68_uc001xzh.2_Missense_Mutation_p.R220C	NM_003485	NP_003476	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	210	Cytoplasmic (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)														---	---	---	---
FAM181A	90050	broad.mit.edu	37	14	94394712	94394712	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:94394712G>A	uc001ybz.1	+	3	574	c.267G>A	c.(265-267)AAG>AAA	p.K89K	C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Silent_p.K27K|FAM181A_uc001yca.1_Silent_p.K27K	NM_138344	NP_612353	Q8N9Y4	F181A_HUMAN	hypothetical protein LOC90050	89											0																		---	---	---	---
SERPINA9	327657	broad.mit.edu	37	14	94933480	94933480	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:94933480T>C	uc001ydf.2	-	3	1083	c.922A>G	c.(922-924)ACA>GCA	p.T308A	SERPINA9_uc001yde.2_Missense_Mutation_p.T208A|SERPINA9_uc010avc.2_Missense_Mutation_p.T159A|SERPINA9_uc001ydg.2_Missense_Mutation_p.T272A|SERPINA9_uc001ydh.1_Missense_Mutation_p.T308A|SERPINA9_uc001ydi.1_Missense_Mutation_p.T272A	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	serine (or cysteine) proteinase inhibitor, clade	290					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			lung(1)|central_nervous_system(1)	2		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)														---	---	---	---
GSC	145258	broad.mit.edu	37	14	95234924	95234924	+	Silent	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:95234924C>A	uc001ydu.2	-	3	825	c.678G>T	c.(676-678)TCG>TCT	p.S226S		NM_173849	NP_776248	P56915	GSC_HUMAN	goosecoid	226					gastrulation|middle ear morphogenesis		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(154;0.0896)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)														---	---	---	---
KLC1	3831	broad.mit.edu	37	14	104135937	104135937	+	Splice_Site	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:104135937T>G	uc001yno.2	+	6	1193	c.885_splice	c.e6+2	p.A295_splice	KLC1_uc010tyd.1_Splice_Site_p.A454_splice|KLC1_uc010tye.1_Splice_Site_p.A291_splice|KLC1_uc001ynm.1_Splice_Site_p.A295_splice|KLC1_uc001ynn.1_Splice_Site_p.A289_splice|KLC1_uc010tyf.1_Splice_Site_p.A295_splice	NM_182923	NP_891553			kinesin light chain 1 isoform 2						blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0		Melanoma(154;0.155)|all_epithelial(191;0.19)																---	---	---	---
INF2	64423	broad.mit.edu	37	14	105169515	105169515	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105169515C>T	uc001ypb.2	+	3	608	c.465C>T	c.(463-465)CCC>CCT	p.P155P	INF2_uc010tyi.1_Silent_p.P155P|INF2_uc001ypc.2_Silent_p.P155P|INF2_uc001yoy.3_Silent_p.P155P|INF2_uc001ypa.2_Silent_p.P155P	NM_022489	NP_071934	Q27J81	INF2_HUMAN	inverted formin 2 isoform 1	155	GBD/FH3.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding				0		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)														---	---	---	---
AKT1	207	broad.mit.edu	37	14	105246551	105246551	+	Missense_Mutation	SNP	C	T	T	rs34409589		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105246551C>T	uc001ypk.2	-	3	603	c.49G>A	c.(49-51)GAG>AAG	p.E17K	INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_Missense_Mutation_p.E17K|AKT1_uc010axa.2_Missense_Mutation_p.E17K|AKT1_uc001ypm.2_Missense_Mutation_p.E17K|AKT1_uc001ypn.2_Missense_Mutation_p.E17K|AKT1_uc010tyk.1_5'Flank	NM_005163	NP_005154	P31749	AKT1_HUMAN	AKT1 kinase	17	PH.		E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane).	E->K: Increase in basal ubiquitination, phosphorylation at T-308 and important increase in membrane recruitment. Decrease in ubiquitination, phosphorylation at T-308 as well as impaired association with the membrane; when associated with R-8.	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	p.E17K(126)		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)	E17K(KU1919_URINARY_TRACT)	1	Mis		breast|colorectal|ovarian|NSCLC								---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106173776	106173776	+	RNA	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106173776C>T	uc010tyt.1	-	3633		c.60122G>A			uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001ysc.2_5'Flank					Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106174708	106174708	+	RNA	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106174708C>T	uc010tyt.1	-	3631		c.59626G>A			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	106641590	106641590	+	RNA	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106641590G>A	uc010tyt.1	-	1021		c.24411C>T								Parts of antibodies, mostly variable regions.												0																		---	---	---	---
NDN	4692	broad.mit.edu	37	15	23931740	23931740	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23931740C>T	uc001ywk.2	-	1	711	c.625G>A	c.(625-627)GCC>ACC	p.A209T		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	209	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				---	---	---	---
SNORD116-4	100033416	broad.mit.edu	37	15	25351699	25351699	+	Intron	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25351699T>G	uc001yxh.1	+						SNORD116-4_uc001yxm.1_Intron|IPW_uc001yxn.3_Intron|SNORD116-28_uc001yxy.2_Intron|IPW_uc001yyb.3_Intron|uc001yyd.2_Intron|SNORD116-29_uc001yyo.2_RNA					Homo sapiens clone kid4 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.												0																		---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	25926148	25926148	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25926148G>T	uc010ayu.2	-	18	3672	c.3566C>A	c.(3565-3567)CCT>CAT	p.P1189H		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1189	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)														---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34133087	34133087	+	Intron	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34133087A>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)														---	---	---	---
SLC12A6	9990	broad.mit.edu	37	15	34543198	34543198	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34543198G>T	uc001zhw.2	-	10	1558	c.1394C>A	c.(1393-1395)TCT>TAT	p.S465Y	SLC12A6_uc001zhv.2_Missense_Mutation_p.S414Y|SLC12A6_uc001zhx.2_Missense_Mutation_p.S450Y|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.S406Y|SLC12A6_uc001zib.2_Missense_Mutation_p.S456Y|SLC12A6_uc001zic.2_Missense_Mutation_p.S465Y|SLC12A6_uc010bau.2_Missense_Mutation_p.S465Y|SLC12A6_uc001zid.2_Missense_Mutation_p.S406Y|SLC12A6_uc001zht.2_5'Flank|SLC12A6_uc001zhu.2_Missense_Mutation_p.S277Y	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	465	Cytoplasmic (Potential).				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)													---	---	---	---
THBS1	7057	broad.mit.edu	37	15	39874463	39874463	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:39874463G>A	uc001zkh.2	+	3	316	c.137G>A	c.(136-138)CGC>CAC	p.R46H		NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor	46	TSP N-terminal.				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)													---	---	---	---
GCHFR	2644	broad.mit.edu	37	15	41059498	41059498	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41059498G>T	uc001zmr.1	+	3	300	c.206G>T	c.(205-207)AGC>ATC	p.S69I	GCHFR_uc010ucr.1_Missense_Mutation_p.S58I|C15orf62_uc010bby.2_5'Flank	NM_005258	NP_005249	P30047	GFRP_HUMAN	GTP cyclohydrolase I feedback regulatory	69					negative regulation of biosynthetic process|neurotransmitter metabolic process|nitric oxide biosynthetic process	cytosol|dendrite|melanosome|nuclear membrane				ovary(1)	1		all_cancers(109;3.3e-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;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)														---	---	---	---
MGA	23269	broad.mit.edu	37	15	42040995	42040995	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42040995T>C	uc010ucy.1	+	16	5554	c.5373T>C	c.(5371-5373)CCT>CCC	p.P1791P	MGA_uc010ucz.1_Silent_p.P1582P|MGA_uc010uda.1_Silent_p.P407P|MGA_uc001zoi.2_Silent_p.P5P	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						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	42041014	42041014	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42041014A>G	uc010ucy.1	+	16	5573	c.5392A>G	c.(5392-5394)ATG>GTG	p.M1798V	MGA_uc010ucz.1_Missense_Mutation_p.M1589V|MGA_uc010uda.1_Missense_Mutation_p.M414V|MGA_uc001zoi.2_Missense_Mutation_p.M12V	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	MAX-interacting protein isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						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)														---	---	---	---
MAPKBP1	23005	broad.mit.edu	37	15	42110261	42110261	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42110261T>C	uc001zok.3	+	18	2263	c.1977T>C	c.(1975-1977)GGT>GGC	p.G659G	MAPKBP1_uc001zoj.3_Silent_p.G653G|MAPKBP1_uc010bcj.2_Silent_p.G160G|MAPKBP1_uc010bci.2_Silent_p.G653G|MAPKBP1_uc010udb.1_Silent_p.G492G|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Silent_p.G160G	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	659	WD 11.									central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)														---	---	---	---
PLA2G4D	283748	broad.mit.edu	37	15	42364044	42364044	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42364044G>A	uc001zox.2	-	15	1596	c.1501C>T	c.(1501-1503)CTC>TTC	p.L501F		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD	501	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			large_intestine(1)|skin(1)	2		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)														---	---	---	---
TMEM87A	25963	broad.mit.edu	37	15	42529648	42529648	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42529648G>A	uc010udd.1	-	9	1009	c.850C>T	c.(850-852)CGA>TGA	p.R284*	TMEM87A_uc001zpf.3_Nonsense_Mutation_p.R223*|TMEM87A_uc010bcu.1_Nonsense_Mutation_p.R223*	NM_015497	NP_056312	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A isoform 1	284						integral to membrane				ovary(1)	1		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)														---	---	---	---
CDAN1	146059	broad.mit.edu	37	15	43025362	43025362	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43025362G>A	uc001zql.2	-	9	1507	c.1390C>T	c.(1390-1392)CGA>TGA	p.R464*	CDAN1_uc001zqj.2_5'Flank|CDAN1_uc001zqk.2_5'UTR|CDAN1_uc010bcx.1_RNA	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	464						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)														---	---	---	---
ZSCAN29	146050	broad.mit.edu	37	15	43662097	43662097	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43662097T>C	uc001zrk.1	-	1	162	c.15A>G	c.(13-15)TCA>TCG	p.S5S	ZSCAN29_uc001zrj.1_5'Flank|ZSCAN29_uc010bdf.1_Silent_p.S4S|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Silent_p.S4S|ZSCAN29_uc001zrm.2_Silent_p.S4S|TUBGCP4_uc001zrn.2_5'Flank|TUBGCP4_uc001zro.2_5'Flank	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	zinc finger protein 690	5					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		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;8.97e-07)														---	---	---	---
SLC28A2	9153	broad.mit.edu	37	15	45556153	45556153	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:45556153T>C	uc001zva.2	+	6	586	c.521T>C	c.(520-522)CTG>CCG	p.L174P		NM_004212	NP_004203	O43868	S28A2_HUMAN	solute carrier family 28 (sodium-coupled	174	Helical; (Potential).				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)														---	---	---	---
SPATA5L1	79029	broad.mit.edu	37	15	45706832	45706832	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:45706832G>T	uc001zve.2	+	4	1607	c.1498G>T	c.(1498-1500)GGA>TGA	p.G500*	SPATA5L1_uc001zvf.2_RNA	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	500						cytoplasm	ATP binding|nucleoside-triphosphatase activity			ovary(3)|skin(1)	4		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)														---	---	---	---
GLDN	342035	broad.mit.edu	37	15	51634172	51634172	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51634172C>T	uc002aba.2	+	1	460	c.291C>T	c.(289-291)AGC>AGT	p.S97S	GLDN_uc010bez.1_Silent_p.S97S	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	gliomedin	97	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)														---	---	---	---
MAPK6	5597	broad.mit.edu	37	15	52356198	52356198	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52356198T>C	uc002abp.2	+	6	1961	c.1167T>C	c.(1165-1167)ACT>ACC	p.T389T		NM_002748	NP_002739	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	389					cell cycle		ATP binding|MAP kinase activity			lung(3)|ovary(1)	4				all cancers(107;0.0028)														---	---	---	---
MYO5C	55930	broad.mit.edu	37	15	52564028	52564028	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52564028C>T	uc010bff.2	-	7	901	c.764G>A	c.(763-765)CGA>CAA	p.R255Q	MYO5C_uc010uga.1_Intron|MYO5C_uc010ugb.1_RNA|MYO5C_uc010ugc.1_Intron	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	255	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)														---	---	---	---
SLTM	79811	broad.mit.edu	37	15	59182562	59182562	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:59182562C>T	uc002afp.2	-	15	2085	c.1997G>A	c.(1996-1998)CGC>CAC	p.R666H	SLTM_uc002afn.2_Missense_Mutation_p.R208H|SLTM_uc002afo.2_Missense_Mutation_p.R648H|SLTM_uc002afq.2_Missense_Mutation_p.R235H|SLTM_uc010bgd.2_Missense_Mutation_p.R235H	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	666	Arg/Glu-rich.|Potential.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1																		---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63984606	63984606	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63984606G>A	uc002amp.2	-							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																		---	---	---	---
ZNF609	23060	broad.mit.edu	37	15	64967127	64967127	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64967127G>A	uc002ann.2	+	4	2074	c.2074G>A	c.(2074-2076)GCA>ACA	p.A692T		NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	692						nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3																		---	---	---	---
RPL4	6124	broad.mit.edu	37	15	66792468	66792468	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:66792468A>G	uc002apv.2	-	9	1020	c.964T>C	c.(964-966)TTG>CTG	p.L322L	SNAPC5_uc002apu.1_5'Flank|RPL4_uc010bhr.2_Silent_p.L228L|RPL4_uc002apw.2_Silent_p.L228L|RPL4_uc002apx.2_Silent_p.L228L	NM_000968	NP_000959	P36578	RL4_HUMAN	ribosomal protein L4	322					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome				0																		---	---	---	---
LBXCOR1	390598	broad.mit.edu	37	15	68118334	68118334	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:68118334G>A	uc002aqy.1	+	2	141	c.141G>A	c.(139-141)TCG>TCA	p.S47S		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	transcriptional corepressor Corl1	56					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																		---	---	---	---
CORO2B	10391	broad.mit.edu	37	15	68987583	68987583	+	Silent	SNP	G	A	A	rs140380181		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:68987583G>A	uc002arj.3	+	3	350	c.321G>A	c.(319-321)TCG>TCA	p.S107S	CORO2B_uc010bic.2_Silent_p.S102S	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	107	WD 1.				actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			ovary(3)|skin(2)|large_intestine(1)	6																		---	---	---	---
SPESP1	246777	broad.mit.edu	37	15	69238906	69238906	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:69238906G>A	uc002arn.1	+	2	1161	c.1033G>A	c.(1033-1035)GCC>ACC	p.A345T	NOX5_uc002arp.1_Intron|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002aro.2_Intron	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1 precursor	345					multicellular organismal development	acrosomal vesicle					0																		---	---	---	---
UACA	55075	broad.mit.edu	37	15	70960670	70960670	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:70960670A>T	uc002asr.2	-	16	2457	c.2353T>A	c.(2353-2355)TTG>ATG	p.L785M	UACA_uc010uke.1_Missense_Mutation_p.L676M|UACA_uc002asq.2_Missense_Mutation_p.L772M|UACA_uc010bin.1_Missense_Mutation_p.L760M	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and	785	Potential.					cytoskeleton|extracellular region				ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
THSD4	79875	broad.mit.edu	37	15	72057527	72057527	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72057527G>A	uc002atb.1	+	15	2837	c.2758G>A	c.(2758-2760)GAA>AAA	p.E920K	THSD4_uc002ate.2_Missense_Mutation_p.E560K|THSD4_uc002atg.1_Missense_Mutation_p.E123K	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	920	TSP type-1 6.					proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2																		---	---	---	---
CSPG4	1464	broad.mit.edu	37	15	75979694	75979694	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75979694G>T	uc002baw.2	-	3	3805	c.3712C>A	c.(3712-3714)CCA>ACA	p.P1238T		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	1238	Interaction with COL5A1 (By similarity).|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).				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																		---	---	---	---
PSTPIP1	9051	broad.mit.edu	37	15	77328231	77328231	+	Silent	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:77328231C>A	uc002bcf.2	+	14	1524	c.1074C>A	c.(1072-1074)GCC>GCA	p.A358A	PSTPIP1_uc010bkt.1_RNA|PSTPIP1_uc010bku.1_Silent_p.A349A|PSTPIP1_uc002bcg.2_Silent_p.A355A|PSTPIP1_uc010bkw.1_Silent_p.A339A|PSTPIP1_uc002bch.1_Silent_p.A119A|PSTPIP1_uc002bci.1_RNA	NM_003978	NP_003969	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting	358					cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity			ovary(1)	1																		---	---	---	---
LINGO1	84894	broad.mit.edu	37	15	77907861	77907861	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:77907861G>A	uc002bct.1	-	2	440	c.388C>T	c.(388-390)CGC>TGC	p.R130C	LINGO1_uc002bcu.1_Missense_Mutation_p.R124C	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	leucine-rich repeat neuronal 6A	130	Extracellular (Potential).|LRR 3.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				ovary(1)|lung(1)	2																		---	---	---	---
ACSBG1	23205	broad.mit.edu	37	15	78485962	78485962	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78485962G>A	uc002bdh.2	-	5	605	c.549C>T	c.(547-549)ATC>ATT	p.I183I	ACSBG1_uc010umw.1_Silent_p.I179I|ACSBG1_uc010umx.1_Intron|ACSBG1_uc010umy.1_Silent_p.I76I	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	lipidosin	183					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			ovary(1)	1																		---	---	---	---
C15orf26	161502	broad.mit.edu	37	15	81428869	81428869	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:81428869G>A	uc002bgb.2	+	3	199	c.172G>A	c.(172-174)GTA>ATA	p.V58I	C15orf26_uc010blp.1_Missense_Mutation_p.V33I	NM_173528	NP_775799	Q6P656	CO026_HUMAN	hypothetical protein LOC161502	58											0																		---	---	---	---
C15orf42	90381	broad.mit.edu	37	15	90159667	90159667	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90159667C>T	uc002boe.2	+	16	2901	c.2901C>T	c.(2899-2901)GCC>GCT	p.A967A		NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	967					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)															---	---	---	---
SLCO3A1	28232	broad.mit.edu	37	15	92706126	92706126	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:92706126G>A	uc002bqx.2	+	10	2095	c.1894G>A	c.(1894-1896)GCG>ACG	p.A632T	SLCO3A1_uc002bqy.2_Missense_Mutation_p.A632T|SLCO3A1_uc002bqz.1_Missense_Mutation_p.A574T	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family,	632	Helical; Name=12; (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			skin(1)	1	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)															---	---	---	---
MCTP2	55784	broad.mit.edu	37	15	94901754	94901754	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:94901754A>T	uc002btj.2	+	9	1279	c.1214A>T	c.(1213-1215)GAC>GTC	p.D405V	MCTP2_uc010urg.1_Intron|MCTP2_uc002bti.2_Missense_Mutation_p.D405V|MCTP2_uc010boj.2_Missense_Mutation_p.D134V|MCTP2_uc010bok.2_Missense_Mutation_p.D405V|MCTP2_uc002btk.3_Intron|MCTP2_uc002btl.2_Intron	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2 isoform 1	405	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)															---	---	---	---
TTC23	64927	broad.mit.edu	37	15	99679511	99679511	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:99679511C>T	uc002bur.2	-						TTC23_uc002bus.2_Intron|TTC23_uc002but.2_Intron|TTC23_uc002buu.2_Intron|TTC23_uc002buv.2_Intron|TTC23_uc002bux.2_Intron|TTC23_uc002buw.2_Intron|TTC23_uc010boq.2_Intron|TTC23_uc002buy.2_Intron|TTC23_uc010bor.2_Intron	NM_022905	NP_075056			tetratricopeptide repeat domain 23								binding				0	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)															---	---	---	---
POLR3K	51728	broad.mit.edu	37	16	97531	97531	+	Missense_Mutation	SNP	G	A	A	rs144406744	byFrequency	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:97531G>A	uc002cfi.1	-	3	265	c.226C>T	c.(226-228)CGT>TGT	p.R76C		NM_016310	NP_057394	Q9Y2Y1	RPC10_HUMAN	DNA directed RNA polymerase III polypeptide K	76	TFIIS-type.				innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding				0		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)																---	---	---	---
MRPL28	10573	broad.mit.edu	37	16	419103	419103	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:419103C>T	uc002cgr.1	-	2	422	c.406G>A	c.(406-408)GAT>AAT	p.D136N	MRPL28_uc010bqu.1_Missense_Mutation_p.D136N|MRPL28_uc002cgs.1_Missense_Mutation_p.D136N|MRPL28_uc002cgt.1_Missense_Mutation_p.D136N	NM_006428	NP_006419	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28 precursor	136					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome				0		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)																---	---	---	---
NARFL	64428	broad.mit.edu	37	16	780438	780438	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:780438A>G	uc002cjr.2	-	11	1422	c.1410T>C	c.(1408-1410)ACT>ACC	p.T470T	NARFL_uc002cjp.2_Silent_p.T368T|NARFL_uc002cjq.2_Silent_p.T368T|NARFL_uc002cjs.2_Silent_p.T252T	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	470					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding				0		Hepatocellular(780;0.0218)																---	---	---	---
CHTF18	63922	broad.mit.edu	37	16	841154	841154	+	Intron	SNP	C	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:841154C>G	uc002cke.3	+						RPUSD1_uc002ckb.2_5'Flank|RPUSD1_uc002ckc.2_5'Flank|RPUSD1_uc002ckd.2_5'Flank|CHTF18_uc010uus.1_3'UTR|CHTF18_uc010bre.1_Intron|CHTF18_uc002ckf.3_Intron|CHTF18_uc010brf.2_5'UTR|CHTF18_uc002ckg.3_5'UTR	NM_022092	NP_071375			CTF18, chromosome transmission fidelity factor						cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			kidney(1)	1		Hepatocellular(780;0.00335)																---	---	---	---
CRAMP1L	57585	broad.mit.edu	37	16	1705981	1705981	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1705981C>T	uc010uvh.1	+	9	1223	c.1223C>T	c.(1222-1224)CCG>CTG	p.P408L	CRAMP1L_uc002cmf.2_Intron	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Crm, cramped-like	408						nucleus	DNA binding				0																		---	---	---	---
CEMP1	752014	broad.mit.edu	37	16	2581057	2581057	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2581057A>G	uc002cqr.2	-	1	374	c.18T>C	c.(16-18)ACT>ACC	p.T6T		NM_001048212	NP_001041677	Q6PRD7	CEMP1_HUMAN	cementum protein 1	6						cytoplasm				skin(1)	1																		---	---	---	---
KCTD5	54442	broad.mit.edu	37	16	2752467	2752467	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2752467C>A	uc002crd.2	+	5	718	c.663C>A	c.(661-663)AGC>AGA	p.S221R		NM_018992	NP_061865	Q9NXV2	KCTD5_HUMAN	potassium channel tetramerisation domain	221					interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity				0																		---	---	---	---
TIGD7	91151	broad.mit.edu	37	16	3350127	3350127	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3350127A>G	uc002cus.2	-	1	1274	c.488T>C	c.(487-489)ATA>ACA	p.I163T	ZNF263_uc002cur.2_3'UTR|TIGD7_uc010btj.1_RNA	NM_033208	NP_149985	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	163					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0																		---	---	---	---
NLRC3	197358	broad.mit.edu	37	16	3614999	3614999	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3614999G>A	uc010btn.2	-	4	450	c.39C>T	c.(37-39)GGC>GGT	p.G13G		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	13					I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6																		---	---	---	---
C16orf71	146562	broad.mit.edu	37	16	4786531	4786531	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4786531A>G	uc002cxn.2	+	2	478	c.16A>G	c.(16-18)AAA>GAA	p.K6E	ANKS3_uc002cxj.1_5'Flank|ANKS3_uc002cxk.2_5'Flank|ANKS3_uc002cxl.2_5'Flank|ANKS3_uc010uxs.1_5'Flank|ANKS3_uc002cxm.2_5'Flank	NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	hypothetical protein LOC146562	6										central_nervous_system(1)	1																		---	---	---	---
PPL	5493	broad.mit.edu	37	16	4934623	4934623	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4934623G>A	uc002cyd.1	-	22	4123	c.4033C>T	c.(4033-4035)CGG>TGG	p.R1345W		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1345	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6																		---	---	---	---
TEKT5	146279	broad.mit.edu	37	16	10788315	10788315	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:10788315C>T	uc002czz.1	-	1	488	c.416G>A	c.(415-417)CGG>CAG	p.R139Q		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	tektin 5	139	Potential.				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2																		---	---	---	---
CLEC16A	23274	broad.mit.edu	37	16	11219940	11219940	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:11219940C>T	uc002dao.2	+	22	2808	c.2578C>T	c.(2578-2580)CGC>TGC	p.R860C	CLEC16A_uc002dan.3_Missense_Mutation_p.R842C|CLEC16A_uc002dap.2_5'UTR	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	860										ovary(1)|central_nervous_system(1)	2																		---	---	---	---
TXNDC11	51061	broad.mit.edu	37	16	11785786	11785786	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:11785786C>T	uc010buu.1	-	9	1403	c.1341G>A	c.(1339-1341)GCG>GCA	p.A447A	TXNDC11_uc002dbg.1_Silent_p.A420A	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	447					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0																		---	---	---	---
RSL1D1	26156	broad.mit.edu	37	16	11931765	11931765	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:11931765G>A	uc002dbp.1	-	9	1425	c.1352C>T	c.(1351-1353)GCG>GTG	p.A451V	RSL1D1_uc010buv.1_Missense_Mutation_p.A450V|RSL1D1_uc010uyw.1_Missense_Mutation_p.A231V	NM_015659	NP_056474	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	451					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	12492300	12492300	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:12492300T>C	uc002dby.3	+							NM_001080530	NP_001073999			sorting nexin 29						cell communication		phosphatidylinositol binding			ovary(1)	1																		---	---	---	---
CDR2	1039	broad.mit.edu	37	16	22359037	22359037	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:22359037A>G	uc002dkn.2	-	5	922	c.614T>C	c.(613-615)TTG>TCG	p.L205S		NM_001802	NP_001793	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2	205	Potential.					nucleus	protein binding			skin(1)	1				GBM - Glioblastoma multiforme(48;0.0188)														---	---	---	---
PLK1	5347	broad.mit.edu	37	16	23695280	23695280	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23695280C>T	uc002dlz.1	+	5	959	c.906C>T	c.(904-906)GAC>GAT	p.D302D		NM_005030	NP_005021	P53350	PLK1_HUMAN	polo-like kinase 1	302	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			lung(1)|skin(1)	2				GBM - Glioblastoma multiforme(48;0.0156)														---	---	---	---
PRKCB	5579	broad.mit.edu	37	16	23847645	23847645	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23847645G>T	uc002dmd.2	+	1	346	c.149G>T	c.(148-150)TGC>TTC	p.C50F	PRKCB_uc002dme.2_Missense_Mutation_p.C50F	NM_212535	NP_997700	P05771	KPCB_HUMAN	protein kinase C, beta isoform 1	50	Phorbol-ester/DAG-type 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)													---	---	---	---
CACNG3	10368	broad.mit.edu	37	16	24372780	24372780	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24372780G>A	uc002dmf.2	+	4	1744	c.544G>A	c.(544-546)GGA>AGA	p.G182R		NM_006539	NP_006530	O60359	CCG3_HUMAN	voltage-dependent calcium channel gamma-3	182	Helical; (Potential).				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0				GBM - Glioblastoma multiforme(48;0.0809)														---	---	---	---
AQP8	343	broad.mit.edu	37	16	25232874	25232874	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:25232874C>T	uc002doc.2	+	3	439	c.357C>T	c.(355-357)CTC>CTT	p.L119L		NM_001169	NP_001160	O94778	AQP8_HUMAN	aquaporin 8	119	Helical; (Potential).				cellular response to cAMP	integral to plasma membrane	water channel activity			upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(48;0.044)														---	---	---	---
NSMCE1	197370	broad.mit.edu	37	16	27237123	27237123	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:27237123G>A	uc002doi.1	-	7	743	c.645C>T	c.(643-645)TGC>TGT	p.C215C	NSMCE1_uc002doj.1_RNA	NM_145080	NP_659547	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog	215	NSE1-type.				DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding				0																		---	---	---	---
SH2B1	25970	broad.mit.edu	37	16	28877939	28877939	+	Missense_Mutation	SNP	C	T	T	rs147094247	byFrequency	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28877939C>T	uc002dri.2	+	4	963	c.524C>T	c.(523-525)ACC>ATC	p.T175I	uc010vct.1_Intron|SH2B1_uc010vdc.1_Intron|SH2B1_uc002drj.2_Missense_Mutation_p.T175I|SH2B1_uc002drk.2_Missense_Mutation_p.T175I|SH2B1_uc002drl.2_Missense_Mutation_p.T175I|SH2B1_uc010vdd.1_Intron|SH2B1_uc010vde.1_Missense_Mutation_p.T175I|SH2B1_uc002drm.2_Missense_Mutation_p.T175I	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1 isoform 1	175	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			ovary(2)	2																		---	---	---	---
PPP4C	5531	broad.mit.edu	37	16	30096003	30096003	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30096003C>T	uc002dwe.2	+	8	765	c.621C>T	c.(619-621)GGC>GGT	p.G207G	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.2_Silent_p.G207G|PPP4C_uc002dwg.2_RNA|PPP4C_uc002dwh.2_Silent_p.G128G	NM_002720	NP_002711	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	207					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			skin(1)	1																		---	---	---	---
PPP4C	5531	broad.mit.edu	37	16	30096284	30096284	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30096284G>A	uc002dwe.2	+	9	969	c.825G>A	c.(823-825)CTG>CTA	p.L275L	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.2_Silent_p.L275L|PPP4C_uc002dwg.2_RNA|PPP4C_uc002dwh.2_Silent_p.L196L	NM_002720	NP_002711	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	275					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			skin(1)	1																		---	---	---	---
DCTPP1	79077	broad.mit.edu	37	16	30435737	30435737	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30435737G>A	uc002dyf.2	-	3	402	c.330C>T	c.(328-330)TGC>TGT	p.C110C	ZNF771_uc010bzx.2_Intron	NM_024096	NP_077001	Q9H773	DCTP1_HUMAN	dCTP pyrophosphatase 1	110					nucleoside triphosphate catabolic process	cytosol	dCTP diphosphatase activity|identical protein binding|magnesium ion binding				0																		---	---	---	---
ITGAL	3683	broad.mit.edu	37	16	30529992	30529992	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30529992C>T	uc002dyi.3	+	29	3356	c.3180C>T	c.(3178-3180)AAC>AAT	p.N1060N	ITGAL_uc002dyj.3_Silent_p.N976N|ITGAL_uc010vev.1_Silent_p.N294N	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	1060	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)													---	---	---	---
PRR14	78994	broad.mit.edu	37	16	30663120	30663120	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30663120G>A	uc002dyy.2	+	3	285	c.27G>A	c.(25-27)CCG>CCA	p.P9P	PRR14_uc002dyz.2_5'UTR|PRR14_uc002dza.2_Silent_p.P9P|PRR14_uc002dzb.1_5'Flank	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	proline rich 14	9											0			Colorectal(24;0.103)															---	---	---	---
VKORC1	79001	broad.mit.edu	37	16	31106026	31106026	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31106026C>A	uc002eas.2	-	1	251	c.25G>T	c.(25-27)GGC>TGC	p.G9C	PRSS53_uc002ear.2_5'UTR|VKORC1_uc002eat.2_Missense_Mutation_p.G9C|VKORC1_uc002eau.2_Missense_Mutation_p.G9C	NM_024006	NP_076869	Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	9	Helical; (Potential).				peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity				0					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)													---	---	---	---
ITGAX	3687	broad.mit.edu	37	16	31374258	31374258	+	Silent	SNP	C	T	T	rs147426364		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31374258C>T	uc002ebu.1	+	13	1429	c.1362C>T	c.(1360-1362)ATC>ATT	p.I454I	ITGAX_uc002ebt.2_Silent_p.I454I|ITGAX_uc010vfk.1_Silent_p.I104I	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	454	FG-GAP 5.|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																		---	---	---	---
ORC6L	23594	broad.mit.edu	37	16	46723639	46723639	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:46723639C>T	uc002eeh.2	+	1	82	c.22C>T	c.(22-24)CGC>TGC	p.R8C	VPS35_uc002eee.2_5'Flank|VPS35_uc002eef.3_5'Flank|ORC6L_uc002eeg.1_Missense_Mutation_p.R8C|ORC6L_uc010cbe.1_5'UTR	NM_014321	NP_055136	Q9Y5N6	ORC6_HUMAN	origin recognition complex subunit 6	8					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)																---	---	---	---
ABCC11	85320	broad.mit.edu	37	16	48201547	48201547	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:48201547C>A	uc002eff.1	-	28	4266	c.3916G>T	c.(3916-3918)GCC>TCC	p.A1306S	ABCC11_uc002efg.1_Missense_Mutation_p.A1306S|ABCC11_uc002efh.1_Missense_Mutation_p.A1268S|ABCC11_uc010cbg.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	1306	ABC transporter 2.|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				---	---	---	---
CHD9	80205	broad.mit.edu	37	16	53243646	53243646	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:53243646A>T	uc002ehb.2	+	2	1869	c.1705A>T	c.(1705-1707)AGG>TGG	p.R569W	CHD9_uc002egy.2_Missense_Mutation_p.R569W|CHD9_uc002egz.1_Missense_Mutation_p.R569W|CHD9_uc002eha.1_Missense_Mutation_p.R569W|CHD9_uc002ehc.2_Missense_Mutation_p.R569W|CHD9_uc002ehd.2_Missense_Mutation_p.R95W	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	569	Lys-rich.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)																---	---	---	---
FTO	79068	broad.mit.edu	37	16	53859941	53859941	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:53859941A>G	uc002ehr.2	+	3	511	c.289A>G	c.(289-291)ATC>GTC	p.I97V	FTO_uc010vha.1_Intron	NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	97	Fe2OG dioxygenase domain.				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																		---	---	---	---
CETP	1071	broad.mit.edu	37	16	57007277	57007277	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57007277T>C	uc002eki.2	+	9	842	c.785T>C	c.(784-786)CTC>CCC	p.L262P	CETP_uc002ekj.2_Intron	NM_000078	NP_000069	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	262					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																		---	---	---	---
NLRC5	84166	broad.mit.edu	37	16	57077522	57077522	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57077522C>T	uc002ekk.1	+						NLRC5_uc010ccq.1_Intron|NLRC5_uc002ekn.2_Intron|NLRC5_uc002ekl.2_Intron|NLRC5_uc002ekm.2_Intron|NLRC5_uc010ccr.1_Intron|NLRC5_uc010ccs.1_Intron|NLRC5_uc002eko.1_Intron|NLRC5_uc002ekp.1_Intron|NLRC5_uc002ekq.1_Intron|NLRC5_uc002ekr.1_5'Flank	NM_032206	NP_115582			nucleotide-binding oligomerization domains 27						defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)																---	---	---	---
CDH5	1003	broad.mit.edu	37	16	66436970	66436970	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:66436970C>T	uc002eom.3	+	12	2409	c.2253C>T	c.(2251-2253)TCC>TCT	p.S751S		NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	751	Cytoplasmic (Potential).|Ser-rich.				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)														---	---	---	---
CES3	23491	broad.mit.edu	37	16	66997277	66997277	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:66997277C>T	uc002eqt.2	+	2	351	c.278C>T	c.(277-279)GCG>GTG	p.A93V	CES3_uc010cdz.2_Missense_Mutation_p.A93V|CES3_uc010cea.2_RNA	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	carboxylesterase 3 precursor	93						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			ovary(3)|central_nervous_system(2)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)														---	---	---	---
CES8	283848	broad.mit.edu	37	16	67043039	67043039	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67043039A>G	uc002eqv.2	+	12	1513	c.1470A>G	c.(1468-1470)CAA>CAG	p.Q490Q	CES8_uc010vix.1_3'UTR|CES8_uc002eqw.2_3'UTR|CES8_uc002eqy.2_Silent_p.Q462Q|CES8_uc002eqx.2_Silent_p.Q366Q|CES8_uc010viy.1_3'UTR|CES8_uc010viz.1_Silent_p.Q462Q|CES8_uc002eqz.2_RNA	NM_173815	NP_776176	Q5XG92	EST4A_HUMAN	carboxylesterase 8 (putative)	560						extracellular region	carboxylesterase activity				0																		---	---	---	---
FBXL8	55336	broad.mit.edu	37	16	67197591	67197591	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67197591C>T	uc002erj.1	+	3	1113	c.993C>T	c.(991-993)CGC>CGT	p.R331R	FBXL8_uc002erk.1_Silent_p.R331R|HSF4_uc002erl.1_5'UTR|HSF4_uc002erm.1_5'UTR|HSF4_uc002ern.1_5'Flank|HSF4_uc010cec.1_5'Flank	NM_018378	NP_060848	Q96CD0	FBXL8_HUMAN	F-box and leucine-rich repeat protein 8	331							protein binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)														---	---	---	---
HSF4	3299	broad.mit.edu	37	16	67199648	67199648	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67199648G>A	uc002erl.1	+	5	1224	c.259G>A	c.(259-261)GAG>AAG	p.E87K	HSF4_uc002erm.1_Missense_Mutation_p.E87K|HSF4_uc002ern.1_RNA|HSF4_uc010cec.1_RNA	NM_001040667	NP_001035757	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4 isoform b	87	By similarity.				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)														---	---	---	---
FHOD1	29109	broad.mit.edu	37	16	67265195	67265195	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67265195G>A	uc002esl.2	-	17	2675	c.2563C>T	c.(2563-2565)CGT>TGT	p.R855C	FHOD1_uc002esk.2_5'Flank|FHOD1_uc010ced.2_Missense_Mutation_p.R662C	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	855	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(2)|ovary(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)														---	---	---	---
FHOD1	29109	broad.mit.edu	37	16	67271645	67271645	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67271645C>T	uc002esl.2	-	7	781	c.669G>A	c.(667-669)CTG>CTA	p.L223L	FHOD1_uc010ced.2_Silent_p.L30L|FHOD1_uc010vjh.1_5'UTR	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	223	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(2)|ovary(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)														---	---	---	---
PLEKHG4	25894	broad.mit.edu	37	16	67318714	67318714	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67318714G>A	uc002eso.3	+	12	4326	c.1791G>A	c.(1789-1791)AGG>AGA	p.R597R	PLEKHG4_uc002esp.3_Silent_p.R404R|PLEKHG4_uc002esq.3_Silent_p.R597R|PLEKHG4_uc010cef.2_Silent_p.R597R|PLEKHG4_uc002ess.3_Silent_p.R597R|PLEKHG4_uc010ceg.2_Silent_p.R516R	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G	597					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)														---	---	---	---
MTSS1L	92154	broad.mit.edu	37	16	70697576	70697576	+	3'UTR	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70697576G>A	uc002ezj.2	-	15						NM_138383	NP_612392			metastasis suppressor 1-like						filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			central_nervous_system(1)	1																		---	---	---	---
MARVELD3	91862	broad.mit.edu	37	16	71674810	71674810	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:71674810C>T	uc002fau.2	+	3	1176	c.1113C>T	c.(1111-1113)TAC>TAT	p.Y371Y	PHLPP2_uc002fav.2_RNA|MARVELD3_uc010cge.2_3'UTR	NM_001017967	NP_001017967	Q96A59	MALD3_HUMAN	MARVEL domain containing 3 isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						integral to membrane				skin(1)	1		Ovarian(137;0.125)																---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72845891	72845891	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72845891G>A	uc002fck.2	-	6	4249	c.3576C>T	c.(3574-3576)ACC>ACT	p.T1192T	ZFHX3_uc002fcl.2_Silent_p.T278T	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1192					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)																---	---	---	---
CHST6	4166	broad.mit.edu	37	16	75512732	75512732	+	Missense_Mutation	SNP	G	T	T	rs144301922		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:75512732G>T	uc002fef.2	-	3	1175	c.995C>A	c.(994-996)GCC>GAC	p.A332D	CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.A332D	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	332	Lumenal (Potential).				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0																		---	---	---	---
CHST5	23563	broad.mit.edu	37	16	75563452	75563452	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:75563452G>A	uc002fei.2	-	3	2226	c.831C>T	c.(829-831)GCC>GCT	p.A277A	CHST5_uc002fej.1_Silent_p.A283A	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	277	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0																		---	---	---	---
MAF	4094	broad.mit.edu	37	16	79633683	79633683	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:79633683G>A	uc002ffn.2	-	1	940	c.117C>T	c.(115-117)ACC>ACT	p.T39T	MAF_uc002ffm.2_Silent_p.T39T	NM_001031804	NP_001026974	O75444	MAF_HUMAN	v-maf musculoaponeurotic fibrosarcoma oncogene	39					transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)	1		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)				T	IGH@	MM								---	---	---	---
FBXO31	79791	broad.mit.edu	37	16	87367566	87367566	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:87367566C>T	uc002fjw.2	-	8	1367	c.1323G>A	c.(1321-1323)GGG>GGA	p.G441G	FBXO31_uc010vot.1_Silent_p.G269G|FBXO31_uc002fjv.2_Silent_p.G333G	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	F-box protein 31	441					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0272)														---	---	---	---
ACSF3	197322	broad.mit.edu	37	16	89169086	89169086	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89169086C>T	uc002fmp.2	+	4	1081	c.741C>T	c.(739-741)GTC>GTT	p.V247V	ACSF3_uc010cig.1_Silent_p.V247V|ACSF3_uc010cih.1_5'UTR|ACSF3_uc002fmq.1_RNA|ACSF3_uc010cii.1_RNA|ACSF3_uc002fmr.1_5'UTR	NM_174917	NP_777577	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3 precursor	247					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0281)														---	---	---	---
SCARF1	8578	broad.mit.edu	37	17	1538416	1538416	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1538416C>T	uc002fsz.1	-	11	2179	c.2129G>A	c.(2128-2130)CGC>CAC	p.R710H	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Missense_Mutation_p.R624H	NM_003693	NP_003684	Q14162	SREC_HUMAN	scavenger receptor class F, member 1 isoform 1	710	Gly-rich.|Cytoplasmic (Potential).				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)														---	---	---	---
SCARF1	8578	broad.mit.edu	37	17	1538421	1538421	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1538421G>A	uc002fsz.1	-	11	2174	c.2124C>T	c.(2122-2124)GTC>GTT	p.V708V	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Silent_p.V622V	NM_003693	NP_003684	Q14162	SREC_HUMAN	scavenger receptor class F, member 1 isoform 1	708	Gly-rich.|Cytoplasmic (Potential).				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)														---	---	---	---
SERPINF2	5345	broad.mit.edu	37	17	1649113	1649113	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1649113C>A	uc002ftk.1	+	5	354	c.277C>A	c.(277-279)CTG>ATG	p.L93M	SERPINF2_uc010vqr.1_Intron	NM_000934	NP_000925	P08697	A2AP_HUMAN	alpha-2-antiplasmin isoform a precursor	93					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)													---	---	---	---
RTN4RL1	146760	broad.mit.edu	37	17	1840945	1840945	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1840945C>T	uc002ftp.2	-	2	190	c.171G>A	c.(169-171)GAG>GAA	p.E57E		NM_178568	NP_848663	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1 precursor	57	LRR 1.				axon regeneration	anchored to plasma membrane	receptor activity				0																		---	---	---	---
ATP2A3	489	broad.mit.edu	37	17	3833644	3833644	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3833644T>C	uc002fxb.1	-	18	2846	c.2695A>G	c.(2695-2697)ATG>GTG	p.M899V	ATP2A3_uc010ckn.1_Missense_Mutation_p.M1V|ATP2A3_uc002fwx.1_Missense_Mutation_p.M899V|ATP2A3_uc002fwy.1_Missense_Mutation_p.M899V|ATP2A3_uc002fwz.1_Missense_Mutation_p.M899V|ATP2A3_uc002fxa.1_Missense_Mutation_p.M899V|ATP2A3_uc002fxc.1_Missense_Mutation_p.M899V|ATP2A3_uc002fxd.1_Missense_Mutation_p.M899V	NM_174955	NP_777615	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform b	899	Helical; Name=8; (By similarity).				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			ovary(3)|breast(1)|central_nervous_system(1)	5				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)														---	---	---	---
SPNS3	201305	broad.mit.edu	37	17	4337322	4337322	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4337322G>T	uc002fxt.2	+	1	104	c.60G>T	c.(58-60)CAG>CAT	p.Q20H	SPNS3_uc002fxu.2_5'UTR	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3	20					lipid transport|transmembrane transport	integral to membrane				large_intestine(1)	1																		---	---	---	---
ARRB2	409	broad.mit.edu	37	17	4620985	4620985	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4620985C>T	uc002fyj.2	+	7	651	c.423C>T	c.(421-423)TGC>TGT	p.C141C	ARRB2_uc002fyk.2_Silent_p.C126C|ARRB2_uc002fyl.2_Silent_p.C141C|ARRB2_uc010vsg.1_Silent_p.C162C|ARRB2_uc002fym.2_Silent_p.C126C|ARRB2_uc002fyn.2_5'UTR|ARRB2_uc010ckq.2_5'UTR|ARRB2_uc002fyo.2_5'UTR	NM_004313	NP_004304	P32121	ARRB2_HUMAN	arrestin, beta 2 isoform 1	141					cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding				0																		---	---	---	---
VMO1	284013	broad.mit.edu	37	17	4688653	4688653	+	3'UTR	SNP	C	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4688653C>G	uc002fyx.2	-	3					VMO1_uc010vsh.1_3'UTR|VMO1_uc010vsi.1_3'UTR|VMO1_uc002fyy.2_3'UTR	NM_182566	NP_872372			vitelline membrane outer layer 1 isoform 1						vitelline membrane formation	extracellular region				ovary(1)	1																		---	---	---	---
CAMTA2	23125	broad.mit.edu	37	17	4883536	4883536	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4883536C>T	uc002gah.1	-	9	1189	c.1081G>A	c.(1081-1083)GGC>AGC	p.G361S	CAMTA2_uc010cku.1_Missense_Mutation_p.G384S|CAMTA2_uc002gag.1_Missense_Mutation_p.G360S|CAMTA2_uc002gai.1_Missense_Mutation_p.G363S|CAMTA2_uc010ckv.1_Missense_Mutation_p.G8S|CAMTA2_uc010vsu.1_Missense_Mutation_p.G174S	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	361					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1																		---	---	---	---
NUP88	4927	broad.mit.edu	37	17	5292206	5292206	+	Missense_Mutation	SNP	C	T	T	rs149123666		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5292206C>T	uc002gbo.1	-	11	1585	c.1559G>A	c.(1558-1560)CGT>CAT	p.R520H	NUP88_uc002gbn.2_5'Flank|NUP88_uc010vsx.1_Missense_Mutation_p.R520H|NUP88_uc010cle.1_Missense_Mutation_p.R519H|NUP88_uc010vsy.1_Missense_Mutation_p.R520H	NM_002532	NP_002523	Q99567	NUP88_HUMAN	nucleoporin 88kDa	520					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			kidney(1)	1																		---	---	---	---
NLGN2	57555	broad.mit.edu	37	17	7319413	7319413	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7319413T>G	uc002ggt.1	+	6	1694	c.1621T>G	c.(1621-1623)TTC>GTC	p.F541V		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	neuroligin 2 precursor	541	Extracellular (Potential).				cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)	1		Prostate(122;0.157)																---	---	---	---
SENP3	26168	broad.mit.edu	37	17	7473821	7473821	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7473821G>A	uc002ghm.2	+						EIF4A1_uc002gho.1_Intron|EIF4A1_uc002ghr.1_5'Flank|EIF4A1_uc002ghq.1_5'Flank|EIF4A1_uc002ghp.1_5'Flank	NM_015670	NP_056485			SUMO1/sentrin/SMT3 specific protease 3						proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			ovary(1)|central_nervous_system(1)	2		Prostate(122;0.157)																---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	A	A	rs121913343		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7577121G>A	uc002gim.2	-	8	1011	c.817C>T	c.(817-819)CGT>TGT	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			---	---	---	---
ARHGEF15	22899	broad.mit.edu	37	17	8219453	8219453	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:8219453G>A	uc002glc.2	+	9	1812	c.1691G>A	c.(1690-1692)CGC>CAC	p.R564H	ARHGEF15_uc002gld.2_Missense_Mutation_p.R564H|ARHGEF15_uc010vuw.1_Missense_Mutation_p.R453H	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	564	DH.				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																		---	---	---	---
TNFRSF13B	23495	broad.mit.edu	37	17	16843050	16843050	+	Missense_Mutation	SNP	G	T	T	rs145711865		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:16843050G>T	uc002gqs.1	-	5	706	c.693C>A	c.(691-693)AGC>AGA	p.S231R	TNFRSF13B_uc010vwt.1_RNA|TNFRSF13B_uc002gqt.1_Missense_Mutation_p.S185R	NM_012452	NP_036584	O14836	TR13B_HUMAN	tumor necrosis factor receptor 13B	231	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			kidney(2)	2														IgA_Deficiency_Selective				---	---	---	---
RAI1	10743	broad.mit.edu	37	17	17698099	17698099	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:17698099G>T	uc002grm.2	+	3	2306	c.1837G>T	c.(1837-1839)GGG>TGG	p.G613W	RAI1_uc002grn.1_Missense_Mutation_p.G613W	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	613						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)														---	---	---	---
RAI1	10743	broad.mit.edu	37	17	17700556	17700556	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:17700556C>A	uc002grm.2	+	3	4763	c.4294C>A	c.(4294-4296)CCG>ACG	p.P1432T	RAI1_uc002grn.1_Missense_Mutation_p.P1432T	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1432						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)														---	---	---	---
LRRC48	83450	broad.mit.edu	37	17	17896209	17896209	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:17896209G>A	uc010vxd.1	+	7	954	c.575G>A	c.(574-576)CGC>CAC	p.R192H	LRRC48_uc002gsa.2_Missense_Mutation_p.R192H|LRRC48_uc010vxc.1_Missense_Mutation_p.R192H|LRRC48_uc002gsb.2_Missense_Mutation_p.R192H	NM_001130090	NP_001123562	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48 isoform a	192	LRRCT.					cytoplasm				pancreas(1)	1	all_neural(463;0.228)																	---	---	---	---
MYO15A	51168	broad.mit.edu	37	17	18022183	18022183	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18022183G>A	uc010vxh.1	+	2	407	c.69G>A	c.(67-69)CCG>CCA	p.P23P		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	23	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)																	---	---	---	---
MAPK7	5598	broad.mit.edu	37	17	19284193	19284193	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19284193C>T	uc002gvn.2	+	4	1057	c.671C>T	c.(670-672)ACG>ATG	p.T224M	B9D1_uc010cqm.1_5'Flank|B9D1_uc002gvl.3_5'Flank|MAPK7_uc002gvo.2_Missense_Mutation_p.T85M|MAPK7_uc002gvq.2_Missense_Mutation_p.T224M|MAPK7_uc002gvp.2_Missense_Mutation_p.T224M	NM_139033	NP_620602	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7 isoform 1	224	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)																	---	---	---	---
SLC13A2	9058	broad.mit.edu	37	17	26816239	26816239	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26816239A>G	uc002hbh.2	+	2	177	c.110A>G	c.(109-111)TAC>TGC	p.Y37C	SLC13A2_uc010wal.1_Intron|SLC13A2_uc010wam.1_5'UTR|SLC13A2_uc010wan.1_Missense_Mutation_p.Y37C|SLC13A2_uc010wao.1_Intron|SLC13A2_uc002hbi.2_5'UTR	NM_003984	NP_003975	Q13183	S13A2_HUMAN	solute carrier family 13, member 2 isoform b	37						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity				0	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)													---	---	---	---
ALDOC	230	broad.mit.edu	37	17	26900833	26900833	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26900833G>T	uc002hbp.2	-	8	1064	c.919C>A	c.(919-921)CAA>AAA	p.Q307K	PIGS_uc002hbn.2_5'Flank|PIGS_uc002hbo.2_5'Flank|PIGS_uc010wap.1_5'Flank|ALDOC_uc010cro.2_Missense_Mutation_p.Q279K	NM_005165	NP_005156	P09972	ALDOC_HUMAN	fructose-bisphosphate aldolase C	307					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			ovary(1)	1	Lung NSC(42;0.00431)																	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27008285	27008285	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27008285T>A	uc002hby.2	+	12	1451	c.1361T>A	c.(1360-1362)GTC>GAC	p.V454D	SUPT6H_uc010crt.2_Missense_Mutation_p.V454D	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	454					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)																	---	---	---	---
GIT1	28964	broad.mit.edu	37	17	27905345	27905345	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27905345G>A	uc002hef.2	-	9	1069	c.855C>T	c.(853-855)GAC>GAT	p.D285D	GIT1_uc002heg.2_Silent_p.D294D|GIT1_uc010wbg.1_Silent_p.D294D|GIT1_uc010csb.1_Silent_p.D285D	NM_014030	NP_054749	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interactor 1	285	ARHGEF6-binding (By similarity).|PTK2-binding (By similarity).				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)														---	---	---	---
EFCAB5	374786	broad.mit.edu	37	17	28410071	28410071	+	Intron	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:28410071G>T	uc002het.2	+						EFCAB5_uc010cse.2_Intron|EFCAB5_uc010csf.2_Intron	NM_198529	NP_940931			EF-hand calcium binding domain 5 isoform a								calcium ion binding			ovary(1)|skin(1)	2																		---	---	---	---
CCDC55	84081	broad.mit.edu	37	17	28511844	28511844	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:28511844G>A	uc002heu.2	+	7	857	c.829G>A	c.(829-831)GAG>AAG	p.E277K	CCDC55_uc002hev.2_Missense_Mutation_p.E223K|CCDC55_uc010wbl.1_Missense_Mutation_p.E223K|CCDC55_uc010wbm.1_Missense_Mutation_p.E223K|CCDC55_uc002hex.2_Missense_Mutation_p.E223K	NM_032141	NP_115517	Q9H0G5	NSRP1_HUMAN	coiled-coil domain containing 55 isoform 1	277					developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding				0																		---	---	---	---
CDK5R1	8851	broad.mit.edu	37	17	30814811	30814811	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30814811T>C	uc002hhn.2	+	2	394	c.173T>C	c.(172-174)GTG>GCG	p.V58A	CDK5R1_uc010wca.1_Missense_Mutation_p.V58A|CDK5R1_uc010ctc.2_5'Flank	NM_003885	NP_003876	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1	58					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			ovary(1)	1		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)															---	---	---	---
UNC45B	146862	broad.mit.edu	37	17	33497136	33497136	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:33497136G>A	uc002hja.2	+	12	1648	c.1551G>A	c.(1549-1551)TGG>TGA	p.W517*	UNC45B_uc002hjb.2_Nonsense_Mutation_p.W517*|UNC45B_uc002hjc.2_Nonsense_Mutation_p.W517*|UNC45B_uc010cto.2_Intron	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	517					cell differentiation|muscle organ development	cytosol	binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)																---	---	---	---
TBC1D3B	414059	broad.mit.edu	37	17	34493416	34493416	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:34493416C>T	uc002hky.2	-	14	1759	c.1609G>A	c.(1609-1611)GGC>AGC	p.G537S		NM_001001417	NP_001001417	Q8IZP1	TBC3A_HUMAN	TBC1 domain family, member 3B	537						intracellular	Rab GTPase activator activity				0		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)														---	---	---	---
SYNRG	11276	broad.mit.edu	37	17	35937667	35937667	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35937667T>C	uc002hoa.2	-	7	717	c.634A>G	c.(634-636)ACA>GCA	p.T212A	SYNRG_uc010wde.1_Intron|SYNRG_uc010wdf.1_Intron|SYNRG_uc002hoc.2_Intron|SYNRG_uc002hoe.2_Intron|SYNRG_uc002hod.2_Intron|SYNRG_uc010wdg.1_Intron|SYNRG_uc002hob.2_Missense_Mutation_p.T212A|SYNRG_uc002hof.2_5'Flank|SYNRG_uc010cvd.1_Intron|SYNRG_uc002hog.1_Missense_Mutation_p.T346A|SYNRG_uc010wdh.1_Missense_Mutation_p.T313A	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	synergin, gamma isoform 1	212					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2																		---	---	---	---
PLXDC1	57125	broad.mit.edu	37	17	37226124	37226124	+	Silent	SNP	C	T	T	rs61742536		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37226124C>T	uc002hrg.2	-	13	1580	c.1368G>A	c.(1366-1368)GCG>GCA	p.A456A	uc002hre.1_Intron|uc002hrf.1_Intron|PLXDC1_uc010cvr.1_Silent_p.A152A|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	456	Cytoplasmic (Potential).				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				ovary(1)|kidney(1)|skin(1)	3																OREG0024368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PLXDC1	57125	broad.mit.edu	37	17	37243922	37243922	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37243922C>T	uc002hrg.2	-	8	1057	c.845G>A	c.(844-846)CGC>CAC	p.R282H	uc002hrf.1_Intron|PLXDC1_uc010cvr.1_5'UTR|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	282	Extracellular (Potential).				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				ovary(1)|kidney(1)|skin(1)	3																		---	---	---	---
ERBB2	2064	broad.mit.edu	37	17	37866359	37866359	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37866359G>T	uc002hso.2	+	6	902	c.664G>T	c.(664-666)GGT>TGT	p.G222C	ERBB2_uc002hsm.2_Missense_Mutation_p.G192C|ERBB2_uc010cwa.2_Missense_Mutation_p.G207C|ERBB2_uc002hsp.2_Missense_Mutation_p.G25C|ERBB2_uc010cwb.2_Missense_Mutation_p.G222C|ERBB2_uc010wek.1_Intron|ERBB2_uc002hsl.2_Missense_Mutation_p.G192C|ERBB2_uc002hsn.1_Missense_Mutation_p.G222C	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	222	Extracellular (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			---	---	---	---
GRB7	2886	broad.mit.edu	37	17	37902012	37902012	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37902012T>C	uc002hsr.2	+	12	1491	c.1241T>C	c.(1240-1242)ATG>ACG	p.M414T	GRB7_uc002hss.2_Missense_Mutation_p.M414T|GRB7_uc010cwc.2_Missense_Mutation_p.M414T|GRB7_uc002hst.2_Missense_Mutation_p.M414T	NM_005310	NP_005301	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	414					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			lung(2)|ovary(1)|breast(1)|skin(1)	5	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|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)															---	---	---	---
GSDMA	284110	broad.mit.edu	37	17	38126776	38126776	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38126776A>C	uc002htl.1	+	4	552	c.434A>C	c.(433-435)GAT>GCT	p.D145A	GSDMA_uc002htm.1_Missense_Mutation_p.D145A	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	gasdermin 1	145					apoptosis|induction of apoptosis	perinuclear region of cytoplasm					0																		---	---	---	---
NR1D1	9572	broad.mit.edu	37	17	38252191	38252191	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38252191G>T	uc002htz.1	-	5	1380	c.754C>A	c.(754-756)CCC>ACC	p.P252T	NR1D1_uc010cwq.1_Intron|NR1D1_uc010cwr.1_Intron	NM_021724	NP_068370	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	252					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			skin(1)	1	Colorectal(19;0.000442)																	---	---	---	---
KRT24	192666	broad.mit.edu	37	17	38859493	38859493	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38859493C>A	uc002hvd.2	-	1	510	c.453G>T	c.(451-453)TTG>TTT	p.L151F		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	keratin 24	151	Rod.|Coil 1A.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.00526)																---	---	---	---
KRT13	3860	broad.mit.edu	37	17	39661394	39661394	+	Missense_Mutation	SNP	G	A	A	rs142183272		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39661394G>A	uc002hwu.1	-	1	472	c.409C>T	c.(409-411)CGT>TGT	p.R137C	KRT13_uc002hwv.1_Missense_Mutation_p.R137C|KRT13_uc002hww.2_Missense_Mutation_p.R30C|KRT13_uc010wfr.1_Missense_Mutation_p.R30C|KRT13_uc010cxo.2_Missense_Mutation_p.R137C|KRT13_uc002hwx.1_Missense_Mutation_p.R125C	NM_153490	NP_705694	P13646	K1C13_HUMAN	keratin 13 isoform a	137	Coil 1A.|Rod.				epidermis development	intermediate filament	structural molecule activity			ovary(2)|skin(2)|pancreas(1)	5		Breast(137;0.000286)																---	---	---	---
JUP	3728	broad.mit.edu	37	17	39925887	39925887	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39925887C>T	uc002hxq.2	-	3	528	c.251G>A	c.(250-252)CGG>CAG	p.R84Q	JUP_uc010wfs.1_Missense_Mutation_p.R84Q|JUP_uc002hxr.2_Missense_Mutation_p.R84Q|JUP_uc002hxs.2_Missense_Mutation_p.R84Q	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	84					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)														---	---	---	---
STAT5B	6777	broad.mit.edu	37	17	40362289	40362289	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40362289C>A	uc002hzh.2	-	15	1975	c.1806G>T	c.(1804-1806)CAG>CAT	p.Q602H		NM_012448	NP_036580	P51692	STA5B_HUMAN	signal transducer and activator of transcription	602	SH2.				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			ovary(3)|lung(2)|skin(1)	6		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)													---	---	---	---
TUBG2	27175	broad.mit.edu	37	17	40815443	40815443	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40815443C>T	uc010wgr.1	+	6	784	c.528C>T	c.(526-528)GAC>GAT	p.D176D	TUBG2_uc002iaq.2_Silent_p.D18D|TUBG2_uc002iar.2_Silent_p.D23D|TUBG2_uc002ias.2_Silent_p.D18D|TUBG2_uc002iap.2_Silent_p.D23D	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	176					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)														---	---	---	---
GRN	2896	broad.mit.edu	37	17	42430105	42430105	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42430105G>A	uc002igp.1	+	13	1940	c.1721G>A	c.(1720-1722)CGC>CAC	p.R574H	GRN_uc002igr.1_3'UTR	NM_002087	NP_002078	P28799	GRN_HUMAN	granulin precursor	574					signal transduction	extracellular space	cytokine activity|growth factor activity			ovary(2)|central_nervous_system(2)|skin(1)	5		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)														---	---	---	---
DBF4B	80174	broad.mit.edu	37	17	42824762	42824762	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42824762C>T	uc002ihf.2	+	12	1156	c.943C>T	c.(943-945)CTT>TTT	p.L315F	DBF4B_uc002ihe.2_Missense_Mutation_p.L129F|DBF4B_uc010wjc.1_Missense_Mutation_p.L299F	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B isoform 1	315	DBF4-type.				cell cycle	nucleus	nucleic acid binding|zinc ion binding				0		Prostate(33;0.0322)																---	---	---	---
STH	246744	broad.mit.edu	37	17	44076862	44076862	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:44076862A>G	uc002ijy.2	+	1	247	c.217A>G	c.(217-219)ATT>GTT	p.I73V	MAPT_uc010dau.2_Intron|MAPT_uc002ijr.3_Intron|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	NM_001007532	NP_001007533	Q8IWL8	STH_HUMAN	saitohin	73						cytoplasm|nucleus					0																		---	---	---	---
B4GALNT2	124872	broad.mit.edu	37	17	47233956	47233956	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47233956C>T	uc002ion.2	+	5	728	c.669C>T	c.(667-669)CCC>CCT	p.P223P	B4GALNT2_uc010wlt.1_Silent_p.P137P|B4GALNT2_uc010wlu.1_Silent_p.P163P	NM_153446	NP_703147	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	223	Lumenal (Potential).				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			large_intestine(1)|ovary(1)	2			all cancers(6;0.000316)															---	---	---	---
CACNA1G	8913	broad.mit.edu	37	17	48704077	48704077	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48704077G>A	uc002irk.1	+	38	7471	c.7099G>A	c.(7099-7101)GGT>AGT	p.G2367S	CACNA1G_uc002irj.1_Missense_Mutation_p.G2161S|CACNA1G_uc002irl.1_Missense_Mutation_p.G2251S|CACNA1G_uc002irm.1_Missense_Mutation_p.G2288S|CACNA1G_uc002irn.1_Missense_Mutation_p.G2233S|CACNA1G_uc002iro.1_Missense_Mutation_p.G2240S|CACNA1G_uc002irp.1_Missense_Mutation_p.G2322S|CACNA1G_uc002irq.1_Missense_Mutation_p.G2344S|CACNA1G_uc002irr.1_Missense_Mutation_p.G2274S|CACNA1G_uc002irs.1_Missense_Mutation_p.G2311S|CACNA1G_uc002irt.1_Missense_Mutation_p.G2256S|CACNA1G_uc002irv.1_Missense_Mutation_p.G2263S|CACNA1G_uc002irw.1_Missense_Mutation_p.G2296S|CACNA1G_uc002iru.1_Missense_Mutation_p.G2333S|CACNA1G_uc002irx.1_Missense_Mutation_p.G2108S|CACNA1G_uc002iry.1_Missense_Mutation_p.G2097S|CACNA1G_uc002irz.1_Missense_Mutation_p.G2180S|CACNA1G_uc002isa.1_Missense_Mutation_p.G2153S|CACNA1G_uc002isb.1_Missense_Mutation_p.G2194S|CACNA1G_uc002isc.1_Missense_Mutation_p.G2269S|CACNA1G_uc002isd.1_Missense_Mutation_p.G2162S|CACNA1G_uc002ise.1_Missense_Mutation_p.G2190S|CACNA1G_uc002isf.1_Missense_Mutation_p.G2217S|CACNA1G_uc002isg.1_Missense_Mutation_p.G2135S|CACNA1G_uc002ish.1_Missense_Mutation_p.G2142S|CACNA1G_uc002isi.1_Missense_Mutation_p.G2130S	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	2367	Cytoplasmic (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)											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CA10	56934	broad.mit.edu	37	17	49825029	49825029	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:49825029C>T	uc002itw.3	-	4	1415	c.429G>A	c.(427-429)TCG>TCA	p.S143S	CA10_uc002itu.3_Silent_p.S72S|CA10_uc002itv.3_Silent_p.S149S|CA10_uc002itx.3_Silent_p.S143S|CA10_uc002ity.3_Silent_p.S143S|CA10_uc002itz.2_Silent_p.S143S	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	143					brain development					ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)															---	---	---	---
RPS6KB1	6198	broad.mit.edu	37	17	58013600	58013600	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:58013600C>T	uc002ixy.2	+	11	1106	c.1003C>T	c.(1003-1005)CGT>TGT	p.R335C	RPS6KB1_uc010ddj.1_Missense_Mutation_p.R335C|RPS6KB1_uc010wom.1_Missense_Mutation_p.R282C|RPS6KB1_uc010won.1_Missense_Mutation_p.R312C|RPS6KB1_uc010woo.1_Missense_Mutation_p.R270C	NM_003161	NP_003152	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide	335	Protein kinase.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			large_intestine(1)	1	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)															---	---	---	---
FTSJ3	117246	broad.mit.edu	37	17	61902275	61902275	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61902275A>G	uc002jbz.2	-	8	804	c.726T>C	c.(724-726)GCT>GCC	p.A242A	FTSJ3_uc002jca.2_Silent_p.A242A|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	242					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			ovary(1)	1																		---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62022940	62022940	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62022940C>T	uc002jds.1	-	19	3577	c.3500G>A	c.(3499-3501)TGC>TAC	p.C1167Y		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1167	III.|Helical; Name=S5 of repeat III; (Potential).				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)													---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62050177	62050177	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62050177G>T	uc002jds.1	-	1	102	c.25C>A	c.(25-27)CTG>ATG	p.L9M		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	9					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)													---	---	---	---
SMURF2	64750	broad.mit.edu	37	17	62594568	62594568	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62594568A>G	uc002jep.1	-	3	520	c.132T>C	c.(130-132)TCT>TCC	p.S44S	SMURF2_uc002jeq.1_5'UTR|SMURF2_uc002jer.1_5'UTR	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	44	C2.				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)															---	---	---	---
LRRC37A3	374819	broad.mit.edu	37	17	62855982	62855982	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62855982C>T	uc002jey.2	-	11	4813	c.4282G>A	c.(4282-4284)GCT>ACT	p.A1428T	LRRC37A3_uc010wqg.1_Missense_Mutation_p.A546T|LRRC37A3_uc002jex.1_Missense_Mutation_p.A405T|LRRC37A3_uc010wqf.1_Missense_Mutation_p.A466T|LRRC37A3_uc010dek.1_Missense_Mutation_p.A434T	NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1428	Extracellular (Potential).					integral to membrane					0																		---	---	---	---
CCDC46	201134	broad.mit.edu	37	17	63923699	63923699	+	Splice_Site	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:63923699C>T	uc002jfl.2	-	19	2199	c.1980_splice	c.e19+1	p.Q660_splice	CCDC46_uc010deo.2_Splice_Site_p.Q402_splice|CCDC46_uc002jfm.2_Splice_Site_p.Q660_splice|CCDC46_uc010dep.2_Splice_Site_p.Q618_splice	NM_145036	NP_659473			coiled-coil domain containing 46 isoform a							centrosome					0			BRCA - Breast invasive adenocarcinoma(6;1.53e-06)															---	---	---	---
KPNA2	3838	broad.mit.edu	37	17	66040600	66040600	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:66040600C>T	uc002jgk.2	+	9	1460	c.1328C>T	c.(1327-1329)GCC>GTC	p.A443V	KPNA2_uc002jgl.2_Missense_Mutation_p.A443V	NM_002266	NP_002257	P52292	IMA2_HUMAN	karyopherin alpha 2	443	ARM 9.				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)															---	---	---	---
TMEM104	54868	broad.mit.edu	37	17	72832176	72832176	+	Missense_Mutation	SNP	G	A	A	rs142754433	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72832176G>A	uc002jls.3	+	10	1003	c.841G>A	c.(841-843)GTC>ATC	p.V281I	TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.2_Missense_Mutation_p.V281I	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	transmembrane protein 104	281	Helical; (Potential).					integral to membrane					0	all_lung(278;0.23)																	---	---	---	---
GRIN2C	2905	broad.mit.edu	37	17	72846360	72846360	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72846360G>A	uc002jlt.1	-	6	1632	c.1476C>T	c.(1474-1476)AAC>AAT	p.N492N	GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Silent_p.N492N	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	492	Extracellular (Potential).				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			ovary(2)|breast(2)	4	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)													---	---	---	---
OTOP3	347741	broad.mit.edu	37	17	72942899	72942899	+	Missense_Mutation	SNP	C	T	T	rs147825590	byFrequency	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72942899C>T	uc010wrr.1	+	6	949	c.949C>T	c.(949-951)CGC>TGC	p.R317C	OTOP3_uc010wrq.1_Missense_Mutation_p.R299C	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	otopetrin 3	317						integral to membrane|intracellular	zinc ion binding			ovary(1)	1	all_lung(278;0.151)|Lung NSC(278;0.185)																	---	---	---	---
CASKIN2	57513	broad.mit.edu	37	17	73500034	73500034	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73500034C>T	uc002joc.2	-	15	2027	c.1477G>A	c.(1477-1479)GCC>ACC	p.A493T	CASKIN2_uc010wsc.1_Missense_Mutation_p.A411T	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	cask-interacting protein 2 isoform a	493	SAM 1.					cytoplasm				pancreas(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)															---	---	---	---
BIRC5	332	broad.mit.edu	37	17	76219627	76219627	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76219627A>G	uc002jvg.2	+	4	542	c.421A>G	c.(421-423)ATG>GTG	p.M141V	BIRC5_uc002jvf.2_Missense_Mutation_p.M164V|BIRC5_uc002jvh.2_Silent_p.P101P|BIRC5_uc002jvi.2_RNA|EPR1_uc002jvj.1_RNA	NM_001168	NP_001159	O15392	BIRC5_HUMAN	baculoviral IAP repeat-containing protein 5	141					anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|midbody|nuclear chromosome|spindle|spindle microtubule	caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding			kidney(1)	1			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)															---	---	---	---
PGS1	9489	broad.mit.edu	37	17	76400143	76400143	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76400143C>T	uc002jvm.2	+	7	1387	c.1375C>T	c.(1375-1377)CGG>TGG	p.R459W	PGS1_uc010wtt.1_RNA|PGS1_uc010dho.2_RNA|PGS1_uc002jvn.2_Missense_Mutation_p.R172W|PGS1_uc002jvo.2_RNA|PGS1_uc002jvp.1_Missense_Mutation_p.R172W	NM_024419	NP_077733	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	459					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity				0			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)															---	---	---	---
ENPP7	339221	broad.mit.edu	37	17	77709383	77709383	+	Missense_Mutation	SNP	C	T	T	rs148221256	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:77709383C>T	uc002jxa.2	+	3	961	c.941C>T	c.(940-942)GCG>GTG	p.A314V		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	314					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			central_nervous_system(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)															---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78320622	78320622	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78320622G>A	uc002jyh.1	+	4	2929	c.2706G>A	c.(2704-2706)CAG>CAA	p.Q902Q		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)															---	---	---	---
BAIAP2	10458	broad.mit.edu	37	17	79060288	79060288	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79060288G>A	uc002jzg.2	+	6	505	c.397G>A	c.(397-399)GCC>ACC	p.A133T	BAIAP2_uc002jyz.3_Missense_Mutation_p.A133T|BAIAP2_uc002jza.2_Missense_Mutation_p.A133T|BAIAP2_uc002jzc.2_Missense_Mutation_p.A133T|BAIAP2_uc002jzb.2_5'UTR|BAIAP2_uc002jzd.2_Missense_Mutation_p.A133T|BAIAP2_uc002jzf.2_Missense_Mutation_p.A133T|BAIAP2_uc002jze.2_Missense_Mutation_p.A166T|BAIAP2_uc010wuh.1_Missense_Mutation_p.A55T|BAIAP2_uc002jzh.2_Missense_Mutation_p.A134T	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2 isoform 2	133	IMD.|Potential.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding				0	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)															---	---	---	---
BAIAP2	10458	broad.mit.edu	37	17	79078359	79078359	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79078359T>C	uc002jzg.2	+	10	1220	c.1112T>C	c.(1111-1113)CTG>CCG	p.L371P	BAIAP2_uc002jyz.3_Missense_Mutation_p.L371P|BAIAP2_uc002jza.2_Missense_Mutation_p.L371P|BAIAP2_uc002jzc.2_Missense_Mutation_p.L372P|BAIAP2_uc002jzb.2_Missense_Mutation_p.L128P|BAIAP2_uc002jzd.2_Missense_Mutation_p.L371P|BAIAP2_uc002jzf.2_Missense_Mutation_p.L371P|BAIAP2_uc002jze.2_Missense_Mutation_p.L404P|BAIAP2_uc010wuh.1_Missense_Mutation_p.L293P|BAIAP2_uc002jzh.2_Missense_Mutation_p.L372P|BAIAP2_uc010wui.1_Missense_Mutation_p.L234P	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2 isoform 2	371					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding				0	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)															---	---	---	---
PYCR1	5831	broad.mit.edu	37	17	79892203	79892203	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79892203G>A	uc002kcr.1	-	6	1074	c.796C>T	c.(796-798)CGG>TGG	p.R266W	PYCR1_uc002kcq.1_Intron|PYCR1_uc002kcp.2_Missense_Mutation_p.R266W|PYCR1_uc002kcs.1_Intron|PYCR1_uc010wvd.1_Missense_Mutation_p.R293W|PYCR1_uc002kct.1_Missense_Mutation_p.R266W|PYCR1_uc002kcu.1_Missense_Mutation_p.R235W|PYCR1_uc010wve.1_Missense_Mutation_p.R187W	NM_006907	NP_008838	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1 isoform 1	266			R -> Q (in ARCL2B; may cause skipping of exon 6).		cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)													---	---	---	---
DUS1L	64118	broad.mit.edu	37	17	80017900	80017900	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80017900G>A	uc002kdq.2	-	10	1511	c.1092C>T	c.(1090-1092)GGC>GGT	p.G364G	DUS1L_uc002kdp.2_Silent_p.G233G|DUS1L_uc002kdr.2_Silent_p.G364G|DUS1L_uc002kds.2_RNA|DUS1L_uc002kdt.2_RNA	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	PP3111 protein	364					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			skin(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)															---	---	---	---
TBCD	6904	broad.mit.edu	37	17	80828180	80828180	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80828180G>A	uc002kfz.2	+	14	1529	c.1399G>A	c.(1399-1401)GCC>ACC	p.A467T	TBCD_uc002kfx.1_Missense_Mutation_p.A450T|TBCD_uc002kfy.1_Missense_Mutation_p.A467T	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	467					'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)															---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	6942108	6942108	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:6942108G>A	uc002knm.2	-	63	9292	c.9198C>T	c.(9196-9198)TTC>TTT	p.F3066F	LAMA1_uc002knk.2_Silent_p.F396F|LAMA1_uc002knl.2_Silent_p.F519F|LAMA1_uc010wzj.1_Silent_p.F2542F	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	3066	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	6949117	6949117	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:6949117C>T	uc002knm.2	-	59	8633	c.8539G>A	c.(8539-8541)GCC>ACC	p.A2847T	LAMA1_uc002knk.2_Missense_Mutation_p.A177T|LAMA1_uc002knl.2_Missense_Mutation_p.A300T|LAMA1_uc010wzj.1_Missense_Mutation_p.A2323T	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2847	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	6985243	6985243	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:6985243G>T	uc002knm.2	-	39	5747	c.5653C>A	c.(5653-5655)CTG>ATG	p.L1885M	LAMA1_uc010wzj.1_Missense_Mutation_p.L1361M	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1885	Domain II and I.				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	7014008	7014008	+	Missense_Mutation	SNP	C	T	T	rs141907708		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:7014008C>T	uc002knm.2	-	23	3263	c.3169G>A	c.(3169-3171)GAT>AAT	p.D1057N	LAMA1_uc010wzj.1_Missense_Mutation_p.D533N	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1057	Laminin EGF-like 12.				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	7049221	7049221	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:7049221A>G	uc002knm.2	-	5	718	c.624T>C	c.(622-624)GCT>GCC	p.A208A	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	208	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)													---	---	---	---
KIAA0802	23255	broad.mit.edu	37	18	8718506	8718506	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:8718506C>T	uc002knr.2	+	3	200	c.58C>T	c.(58-60)CGG>TGG	p.R20W	KIAA0802_uc002knq.2_Missense_Mutation_p.R20W	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	371	Potential.										0																		---	---	---	---
ANKRD12	23253	broad.mit.edu	37	18	9258243	9258243	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:9258243C>T	uc002knv.2	+	9	5235	c.4978C>T	c.(4978-4980)CCA>TCA	p.P1660S	ANKRD12_uc002knw.2_Missense_Mutation_p.P1637S|ANKRD12_uc002knx.2_Missense_Mutation_p.P1637S|ANKRD12_uc010dkx.1_Missense_Mutation_p.P1367S	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	1660						nucleus				ovary(2)|central_nervous_system(1)	3																		---	---	---	---
FAM38B	63895	broad.mit.edu	37	18	10677801	10677801	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:10677801C>T	uc002kor.3	-	11	1696	c.1556G>A	c.(1555-1557)CGA>CAA	p.R519Q	FAM38B_uc002koq.2_Missense_Mutation_p.R354Q	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2562						integral to membrane	ion channel activity			ovary(1)	1																		---	---	---	---
TUBB6	84617	broad.mit.edu	37	18	12325183	12325183	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:12325183G>A	uc002kqw.2	+	4	440	c.395G>A	c.(394-396)GGC>GAC	p.G132D	TUBB6_uc002kqv.2_Missense_Mutation_p.G60D|TUBB6_uc010dld.2_RNA|TUBB6_uc002kqx.2_Missense_Mutation_p.G95D|TUBB6_uc002kqy.2_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	tubulin, beta 6	132					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0				READ - Rectum adenocarcinoma(1;0.0649)														---	---	---	---
ZNF521	25925	broad.mit.edu	37	18	22669475	22669475	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:22669475T>A	uc002kvk.2	-	7	4107	c.3860A>T	c.(3859-3861)GAC>GTC	p.D1287V	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.D1287V|ZNF521_uc002kvl.2_Missense_Mutation_p.D1067V	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	1287	C2H2-type 30.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)							T	PAX5	ALL								---	---	---	---
ZNF521	25925	broad.mit.edu	37	18	22806621	22806621	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:22806621G>T	uc002kvk.2	-	4	1508	c.1261C>A	c.(1261-1263)CTG>ATG	p.L421M	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.L421M|ZNF521_uc002kvl.2_Missense_Mutation_p.L201M	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	421	C2H2-type 9; degenerate.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)							T	PAX5	ALL								---	---	---	---
SLC39A6	25800	broad.mit.edu	37	18	33704629	33704629	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:33704629C>T	uc010dmy.2	-	3	1114	c.824G>A	c.(823-825)GGC>GAC	p.G275D	SLC39A6_uc002kzj.2_5'UTR	NM_012319	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter),	275	Extracellular (Potential).					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			ovary(1)|pancreas(1)	2																		---	---	---	---
MOCOS	55034	broad.mit.edu	37	18	33795561	33795561	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:33795561C>T	uc002kzq.3	+	8	1441	c.1418C>T	c.(1417-1419)TCG>TTG	p.S473L		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	473					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	34156416	34156416	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:34156416T>C	uc002kzt.1	+	6	611	c.514T>C	c.(514-516)TTG>CTG	p.L172L	FHOD3_uc002kzr.1_Silent_p.L172L|FHOD3_uc002kzs.1_Silent_p.L172L|FHOD3_uc002kzu.1_5'UTR	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	172	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)																---	---	---	---
FHOD3	80206	broad.mit.edu	37	18	34340622	34340622	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:34340622C>T	uc002kzt.1	+	22	3998	c.3901C>T	c.(3901-3903)CTG>TTG	p.L1301L	FHOD3_uc002kzs.1_Silent_p.L1318L|FHOD3_uc010dmz.1_Silent_p.L1033L|FHOD3_uc010dnb.1_Intron	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1301					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)																---	---	---	---
CELF4	56853	broad.mit.edu	37	18	34833784	34833784	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:34833784C>T	uc002lae.2	-	12	1847	c.1451G>A	c.(1450-1452)CGC>CAC	p.R484H	CELF4_uc010dnd.1_Missense_Mutation_p.R482H|CELF4_uc002lag.2_Missense_Mutation_p.R446H|CELF4_uc002laf.2_Missense_Mutation_p.R478H	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	484					embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			ovary(2)	2																		---	---	---	---
KIAA1632	57724	broad.mit.edu	37	18	43481065	43481065	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43481065C>T	uc002lbm.2	-	26	4642	c.4542G>A	c.(4540-4542)CCG>CCA	p.P1514P	KIAA1632_uc010xcq.1_Silent_p.P68P|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Silent_p.P389P	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1514					autophagy						0																		---	---	---	---
CXXC1	30827	broad.mit.edu	37	18	47809282	47809282	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:47809282C>T	uc002leq.3	-	14	2499	c.1766G>A	c.(1765-1767)CGC>CAC	p.R589H	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_uc010dox.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.3_Missense_Mutation_p.R446H|CXXC1_uc002ler.3_Missense_Mutation_p.R593H|CXXC1_uc010doy.2_Missense_Mutation_p.A577T	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	589					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																		---	---	---	---
MRO	83876	broad.mit.edu	37	18	48333094	48333094	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:48333094C>T	uc002lew.3	-	4	520	c.226G>A	c.(226-228)GCC>ACC	p.A76T	MRO_uc010xdn.1_Missense_Mutation_p.A76T|MRO_uc010dpa.2_Missense_Mutation_p.A90T|MRO_uc010dpb.2_Missense_Mutation_p.A90T|MRO_uc010dpc.2_Missense_Mutation_p.A76T|MRO_uc002lex.3_Missense_Mutation_p.A76T	NM_031939	NP_114145	Q9BYG7	MSTRO_HUMAN	maestro isoform a	76						nucleolus	binding				0		Colorectal(6;0.0596)		Colorectal(21;0.082)														---	---	---	---
DCC	1630	broad.mit.edu	37	18	51013231	51013231	+	Silent	SNP	T	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:51013231T>A	uc002lfe.1	+	26	4388	c.3801T>A	c.(3799-3801)TCT>TCA	p.S1267S	DCC_uc010dpf.1_Silent_p.S902S	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1267	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)														---	---	---	---
CDH20	28316	broad.mit.edu	37	18	59206270	59206270	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:59206270G>T	uc010dps.1	+	8	1434	c.1422G>T	c.(1420-1422)CAG>CAT	p.Q474H	CDH20_uc002lif.2_Missense_Mutation_p.Q468H	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	474	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)																---	---	---	---
CDH19	28513	broad.mit.edu	37	18	64239444	64239444	+	5'UTR	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:64239444C>T	uc002lkc.1	-	2					CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_5'UTR|CDH19_uc002lkd.2_5'UTR	NM_021153	NP_066976			cadherin 19, type 2 preproprotein						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2		Esophageal squamous(42;0.0132)																---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67817279	67817279	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67817279T>C	uc002lkp.2	-	16	2168	c.2100A>G	c.(2098-2100)GGA>GGG	p.G700G	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	700							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)																---	---	---	---
CNDP1	84735	broad.mit.edu	37	18	72229273	72229273	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:72229273T>C	uc002llq.2	+						uc002llr.2_5'Flank	NM_032649	NP_116038			carnosinase 1 precursor						proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity				0		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)														---	---	---	---
ZNF407	55628	broad.mit.edu	37	18	72589255	72589255	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:72589255G>A	uc002llw.2	+	4	5037	c.4980G>A	c.(4978-4980)TGG>TGA	p.W1660*	ZNF407_uc010dqu.1_Nonsense_Mutation_p.W1660*	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	1660	C2H2-type 18.				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)														---	---	---	---
NFATC1	4772	broad.mit.edu	37	18	77170867	77170867	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:77170867G>A	uc010xfg.1	+	2	1045	c.592G>A	c.(592-594)GCG>ACG	p.A198T	NFATC1_uc002lnc.1_Missense_Mutation_p.A198T|NFATC1_uc010xff.1_Missense_Mutation_p.A198T|NFATC1_uc002lnd.2_Missense_Mutation_p.A198T|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Missense_Mutation_p.A198T|NFATC1_uc010xfi.1_Missense_Mutation_p.A185T|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Missense_Mutation_p.A185T|NFATC1_uc002lng.2_Missense_Mutation_p.A185T|NFATC1_uc010xfk.1_Missense_Mutation_p.A185T	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	198	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)														---	---	---	---
PTBP1	5725	broad.mit.edu	37	19	805056	805056	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:805056G>A	uc002lpr.2	+	8	867	c.761G>A	c.(760-762)CGC>CAC	p.R254H	PTBP1_uc002lpp.2_Missense_Mutation_p.R254H|PTBP1_uc002lpq.2_Missense_Mutation_p.R254H|PTBP1_uc002lps.2_Intron|PTBP1_uc002lpt.2_RNA|PTBP1_uc002lpu.1_Missense_Mutation_p.R224H	NM_031991	NP_114368	P26599	PTBP1_HUMAN	polypyrimidine tract-binding protein 1 isoform	254	RRM 2.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			kidney(1)|skin(1)	2		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)														---	---	---	---
PTBP1	5725	broad.mit.edu	37	19	808629	808629	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:808629C>T	uc002lpr.2	+	12	1358	c.1252C>T	c.(1252-1254)CGC>TGC	p.R418C	PTBP1_uc002lpp.2_Missense_Mutation_p.R444C|PTBP1_uc002lpq.2_Missense_Mutation_p.R437C|PTBP1_uc002lps.2_Missense_Mutation_p.R84C|PTBP1_uc002lpt.2_RNA|PTBP1_uc002lpu.1_Missense_Mutation_p.R414C	NM_031991	NP_114368	P26599	PTBP1_HUMAN	polypyrimidine tract-binding protein 1 isoform	418					negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			kidney(1)|skin(1)	2		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)														---	---	---	---
C19orf22	91300	broad.mit.edu	37	19	902140	902140	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:902140G>A	uc002lqg.2	-						C19orf22_uc002lqh.2_Intron|C19orf22_uc002lqi.2_Intron|C19orf22_uc002lqj.2_Intron	NM_138774	NP_620129			hypothetical protein LOC91300							nucleus	nucleic acid binding			pancreas(1)	1		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)														---	---	---	---
SBNO2	22904	broad.mit.edu	37	19	1109760	1109760	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1109760G>A	uc002lrk.3	-	27	3283	c.3045C>T	c.(3043-3045)ATC>ATT	p.I1015I	SBNO2_uc002lri.3_5'Flank|SBNO2_uc002lrj.3_Silent_p.I958I|SBNO2_uc010dse.2_Silent_p.I998I|SBNO2_uc010xgj.1_Intron	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 isoform 1	1015					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent						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)														---	---	---	---
SBNO2	22904	broad.mit.edu	37	19	1123647	1123647	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1123647G>A	uc002lrk.3	-						SBNO2_uc002lrj.3_Intron|SBNO2_uc010dse.2_Intron|SBNO2_uc010xgj.1_Intron|SBNO2_uc010dsf.2_Intron	NM_014963	NP_055778			strawberry notch homolog 2 isoform 1						macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent						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)														---	---	---	---
MIDN	90007	broad.mit.edu	37	19	1257102	1257102	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1257102G>A	uc002lrp.2	+	8	1753	c.1238G>A	c.(1237-1239)CGG>CAG	p.R413Q		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	midnolin	413						nucleolus					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)														---	---	---	---
MUM1	84939	broad.mit.edu	37	19	1362336	1362336	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1362336T>C	uc010xgm.1	+	5	1268	c.1199T>C	c.(1198-1200)GTC>GCC	p.V400A	MUM1_uc010dsi.2_Missense_Mutation_p.V332A|MUM1_uc002lrz.2_Missense_Mutation_p.V401A|MUM1_uc002lsb.2_Missense_Mutation_p.V332A			Q2TAK8	MUM1_HUMAN	SubName: Full=MUM1 protein;	400					chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding				0		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;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)														---	---	---	---
DAZAP1	26528	broad.mit.edu	37	19	1432615	1432615	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1432615C>T	uc002lsn.2	+	11	1163	c.974C>T	c.(973-975)CCG>CTG	p.P325L	DAZAP1_uc002lsm.2_Missense_Mutation_p.P325L|DAZAP1_uc002lso.2_Missense_Mutation_p.P324L|DAZAP1_uc002lsl.1_Missense_Mutation_p.P325L	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1 isoform b	325	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)	1		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)														---	---	---	---
DOT1L	84444	broad.mit.edu	37	19	2222099	2222099	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2222099C>T	uc002lvb.3	+	24	2967	c.2931C>T	c.(2929-2931)ACC>ACT	p.T977T	DOT1L_uc002lvc.1_Silent_p.T271T|DOT1L_uc002lve.1_3'UTR	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	977						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)														---	---	---	---
PIP5K1C	23396	broad.mit.edu	37	19	3653503	3653503	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3653503C>T	uc002lyj.1	-	7	763	c.706G>A	c.(706-708)GTG>ATG	p.V236M	PIP5K1C_uc010xhq.1_Missense_Mutation_p.V236M|PIP5K1C_uc010xhr.1_Missense_Mutation_p.V236M	NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	236	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)														---	---	---	---
MATK	4145	broad.mit.edu	37	19	3779120	3779120	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3779120C>T	uc002lyt.2	-	12	1467	c.1067G>A	c.(1066-1068)CGC>CAC	p.R356H	MATK_uc002lyv.2_Missense_Mutation_p.R357H|MATK_uc002lyu.2_Missense_Mutation_p.R315H|MATK_uc010dtq.2_Missense_Mutation_p.R356H	NM_139355	NP_647612	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase isoform	356	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(2)|ovary(1)|lung(1)|large_intestine(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
ITGB1BP3	27231	broad.mit.edu	37	19	3941175	3941175	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3941175G>T	uc002lyz.3	+	7	792	c.502G>T	c.(502-504)GTC>TTC	p.V168F	ITGB1BP3_uc010xia.1_Missense_Mutation_p.V173F	NM_170678	NP_733778	Q9NPI5	NRK2_HUMAN	integrin beta 1 binding protein 3	168					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|protein binding|ribosylnicotinamide kinase activity			skin(2)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
C3	718	broad.mit.edu	37	19	6694500	6694500	+	Missense_Mutation	SNP	C	A	A	rs148698696		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6694500C>A	uc002mfm.2	-	24	3158	c.3096G>T	c.(3094-3096)GAG>GAT	p.E1032D	C3_uc002mfl.2_5'Flank	NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	1032				E->A: Impaired binding of C3d to CR2.	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)														---	---	---	---
SH2D3A	10045	broad.mit.edu	37	19	6754122	6754122	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6754122G>A	uc002mft.2	-	8	1519	c.1325C>T	c.(1324-1326)GCT>GTT	p.A442V	SH2D3A_uc010xjg.1_Missense_Mutation_p.A349V	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	442					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(2)	2																		---	---	---	---
ZNF358	140467	broad.mit.edu	37	19	7585732	7585732	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7585732A>G	uc002mgn.2	+	2	1774	c.1604A>G	c.(1603-1605)GAC>GGC	p.D535G	MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	zinc finger protein 358	535					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1																		---	---	---	---
PNPLA6	10908	broad.mit.edu	37	19	7626170	7626170	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7626170C>T	uc010xjq.1	+	33	4215	c.4020C>T	c.(4018-4020)CCC>CCT	p.P1340P	PNPLA6_uc002mgq.1_Silent_p.P1292P|PNPLA6_uc010xjp.1_Silent_p.P1265P|PNPLA6_uc002mgr.1_Silent_p.P1292P|PNPLA6_uc002mgs.2_Silent_p.P1330P|PNPLA6_uc002mgt.1_RNA	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	1331	Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3																		---	---	---	---
KIAA1543	57662	broad.mit.edu	37	19	7676000	7676000	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7676000C>T	uc002mgv.3	+	9	1170	c.1069C>T	c.(1069-1071)CGC>TGC	p.R357C	KIAA1543_uc002mgu.3_Missense_Mutation_p.R384C	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN	NEZHA isoform 2	357					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																		---	---	---	---
STXBP2	6813	broad.mit.edu	37	19	7709559	7709559	+	Silent	SNP	C	T	T	rs139160342	byFrequency	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7709559C>T	uc002mha.3	+	14	1212	c.1167C>T	c.(1165-1167)ATC>ATT	p.I389I	STXBP2_uc002mhb.3_Silent_p.I386I|STXBP2_uc010dvj.2_RNA|STXBP2_uc010xjr.1_Silent_p.I400I|STXBP2_uc010dvk.2_Silent_p.I357I|STXBP2_uc002mhc.3_Silent_p.I157I|STXBP2_uc002mhe.1_Silent_p.I17I	NM_006949	NP_008880	Q15833	STXB2_HUMAN	syntaxin binding protein 2 isoform a	389					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																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9063005	9063005	+	Silent	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9063005A>C	uc002mkp.2	-	3	24645	c.24441T>G	c.(24439-24441)ACT>ACG	p.T8147T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8149	Ser-rich.|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																		---	---	---	---
EIF3G	8666	broad.mit.edu	37	19	10226702	10226702	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10226702G>A	uc002mnd.2	-	8	708	c.644C>T	c.(643-645)CCG>CTG	p.P215L		NM_003755	NP_003746	O75821	EIF3G_HUMAN	eukaryotic translation initiation factor 3,	215						cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity				0			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)															---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10260288	10260288	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10260288G>A	uc002mng.2	-	25	2559	c.2379C>T	c.(2377-2379)CAC>CAT	p.H793H	DNMT1_uc010xlc.1_Silent_p.H809H|DNMT1_uc002mnh.2_Silent_p.H688H|DNMT1_uc010xld.1_Silent_p.H793H	NM_001379	NP_001370	P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1 isoform b	793	BAH 1.				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	10432222	10432222	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10432222C>T	uc002moa.2	-	7	1377	c.1297G>A	c.(1297-1299)GGG>AGG	p.G433R		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	RAVER1	416	Pro-rich.					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)															---	---	---	---
ILF3	3609	broad.mit.edu	37	19	10798068	10798068	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10798068T>C	uc002mpn.2	+	18	2423	c.2106T>C	c.(2104-2106)GGT>GGC	p.G702G	ILF3_uc002mpo.2_Silent_p.G706G|ILF3_uc002mpq.2_Missense_Mutation_p.V5A	NM_012218	NP_036350	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3 isoform a	702	Poly-Gly.|Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding			ovary(3)	3			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)															---	---	---	---
QTRT1	81890	broad.mit.edu	37	19	10823277	10823277	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10823277C>T	uc002mpr.2	+	7	859	c.834C>T	c.(832-834)TTC>TTT	p.F278F	DNM2_uc010dxk.2_5'Flank	NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	278					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			skin(1)	1			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)															---	---	---	---
LDLR	3949	broad.mit.edu	37	19	11224051	11224051	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11224051C>T	uc002mqk.3	+	9	1452	c.1284C>T	c.(1282-1284)AAC>AAT	p.N428N	LDLR_uc010xlk.1_Silent_p.N428N|LDLR_uc010xll.1_Silent_p.N387N|LDLR_uc010xlm.1_Silent_p.N281N|LDLR_uc010xln.1_Silent_p.N301N|LDLR_uc010xlo.1_Silent_p.N260N	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	428	LDL-receptor class B 1.|Extracellular (Potential).				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			ovary(2)|skin(2)	4		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)													---	---	---	---
ZNF563	147837	broad.mit.edu	37	19	12429861	12429861	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12429861T>C	uc002mtp.2	-	4	1216	c.978A>G	c.(976-978)ATA>ATG	p.I326M		NM_145276	NP_660319	Q8TA94	ZN563_HUMAN	zinc finger protein 563	326	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
TNPO2	30000	broad.mit.edu	37	19	12826219	12826219	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12826219C>T	uc002muo.2	-	6	751	c.566G>A	c.(565-567)CGG>CAG	p.R189Q	TNPO2_uc002mup.2_Missense_Mutation_p.R281Q|TNPO2_uc002muq.2_Missense_Mutation_p.R189Q|TNPO2_uc002mur.2_Missense_Mutation_p.R189Q	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN	transportin 2 (importin 3, karyopherin beta 2b)	189	HEAT 2.				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			ovary(1)	1																		---	---	---	---
EPS15L1	58513	broad.mit.edu	37	19	16515388	16515388	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16515388C>T	uc002ndz.1	-						EPS15L1_uc002ndx.2_Intron|EPS15L1_uc002ndy.2_Intron|EPS15L1_uc010xpe.1_Intron|EPS15L1_uc010xpf.1_Intron|EPS15L1_uc002nea.1_Intron|EPS15L1_uc010eah.1_Intron|EPS15L1_uc002neb.1_Intron|EPS15L1_uc002nec.1_Intron	NM_021235	NP_067058			epidermal growth factor receptor pathway						endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			ovary(3)|skin(2)	5																		---	---	---	---
NWD1	284434	broad.mit.edu	37	19	16860328	16860328	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16860328C>T	uc002neu.3	+	6	1297	c.875C>T	c.(874-876)GCG>GTG	p.A292V	NWD1_uc002net.3_Missense_Mutation_p.A157V|NWD1_uc002nev.3_Missense_Mutation_p.A86V			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	292	WD 1.						ATP binding			skin(3)|ovary(2)|pancreas(2)	7																		---	---	---	---
MYO9B	4650	broad.mit.edu	37	19	17213125	17213125	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17213125G>A	uc010eak.2	+	2	750	c.598G>A	c.(598-600)GTG>ATG	p.V200M	MYO9B_uc002nfi.2_Missense_Mutation_p.V200M|MYO9B_uc002nfj.1_Missense_Mutation_p.V200M	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	200	Myosin head-like.				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																		---	---	---	---
GTPBP3	84705	broad.mit.edu	37	19	17449796	17449796	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17449796G>A	uc010eas.2	+	5	690	c.625G>A	c.(625-627)GGC>AGC	p.G209S	GTPBP3_uc010xpo.1_Missense_Mutation_p.G231S|GTPBP3_uc010ear.1_RNA|GTPBP3_uc002ngh.3_Missense_Mutation_p.G209S|GTPBP3_uc002ngg.3_Missense_Mutation_p.G209S|GTPBP3_uc002ngi.3_5'UTR	NM_032620	NP_116009	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial) isoform V	209					tRNA modification	mitochondrion	GTP binding|GTPase activity			skin(1)	1																		---	---	---	---
SLC27A1	376497	broad.mit.edu	37	19	17611367	17611367	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17611367A>G	uc002ngu.1	+	9	1447	c.1397A>G	c.(1396-1398)TAT>TGT	p.Y466C	SLC27A1_uc010xpp.1_Missense_Mutation_p.Y287C|SLC27A1_uc002ngv.1_Missense_Mutation_p.Y68C	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	solute carrier family 27, member 1	466	Sufficient for oligomerization (By similarity).|Cytoplasmic (Potential).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding				0																		---	---	---	---
GLT25D1	79709	broad.mit.edu	37	19	17692195	17692195	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17692195C>G	uc002nhc.1	+	12	1823	c.1811C>G	c.(1810-1812)GCC>GGC	p.A604G	GLT25D1_uc010eay.1_Intron	NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN	glycosyltransferase 25 domain containing 1	604					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity				0																		---	---	---	---
FCHO1	23149	broad.mit.edu	37	19	17886908	17886908	+	Missense_Mutation	SNP	G	A	A	rs148410831	byFrequency	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17886908G>A	uc010ebb.2	+	15	1309	c.1120G>A	c.(1120-1122)GAG>AAG	p.E374K	FCHO1_uc002nhg.3_Missense_Mutation_p.E374K|FCHO1_uc002nhh.2_Missense_Mutation_p.E374K|FCHO1_uc010xpw.1_Missense_Mutation_p.E324K|FCHO1_uc002nhi.2_5'Flank|FCHO1_uc002nhj.2_5'Flank	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN	FCH domain only 1 isoform b	374										breast(1)	1																		---	---	---	---
B3GNT3	10331	broad.mit.edu	37	19	17919127	17919127	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17919127G>A	uc002nhk.1	+	2	596	c.511G>A	c.(511-513)GGA>AGA	p.G171R	B3GNT3_uc002nhl.1_Missense_Mutation_p.G171R|B3GNT3_uc010ebd.1_Missense_Mutation_p.G171R|B3GNT3_uc010ebe.1_Missense_Mutation_p.G171R	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal	171	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
ATP13A1	57130	broad.mit.edu	37	19	19758041	19758041	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19758041C>T	uc002nnh.3	-	22	3030	c.3002G>A	c.(3001-3003)AGC>AAC	p.S1001N	ATP13A1_uc002nne.2_Missense_Mutation_p.S141N|ATP13A1_uc002nnf.3_Missense_Mutation_p.S369N|ATP13A1_uc002nng.2_Missense_Mutation_p.S883N	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	1001	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																		---	---	---	---
ZNF43	7594	broad.mit.edu	37	19	21991137	21991137	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21991137A>C	uc002nqj.2	-	4	1832	c.1702T>G	c.(1702-1704)TGT>GGT	p.C568G	ZNF43_uc010ecv.2_Missense_Mutation_p.C562G|ZNF43_uc002nql.2_Missense_Mutation_p.C562G|ZNF43_uc002nqm.2_Missense_Mutation_p.C562G|ZNF43_uc002nqk.2_Missense_Mutation_p.C498G	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	568	C2H2-type 15.				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)														---	---	---	---
ZNF43	7594	broad.mit.edu	37	19	21992108	21992108	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21992108C>T	uc002nqj.2	-	4	861	c.731G>A	c.(730-732)CGC>CAC	p.R244H	ZNF43_uc010ecv.2_Missense_Mutation_p.R238H|ZNF43_uc002nql.2_Missense_Mutation_p.R238H|ZNF43_uc002nqm.2_Missense_Mutation_p.R238H|ZNF43_uc002nqk.2_Missense_Mutation_p.R174H	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	244	C2H2-type 3; degenerate.		R -> C (in a colorectal cancer sample; somatic mutation).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R244C(1)		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)														---	---	---	---
C19orf12	83636	broad.mit.edu	37	19	30193763	30193763	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:30193763G>A	uc002nsk.2	-	3	713	c.282C>T	c.(280-282)GCC>GCT	p.A94A	C19orf12_uc002nsj.2_Silent_p.A105A|C19orf12_uc002nsl.2_3'UTR|C19orf12_uc002nsm.2_RNA	NM_031448	NP_113636	Q9NSK7	CS012_HUMAN	hypothetical protein LOC83636 isoform 2	94						integral to membrane					0	Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)															---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	30934972	30934972	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:30934972C>T	uc002nsu.1	+	2	641	c.503C>T	c.(502-504)GCG>GTG	p.A168V	ZNF536_uc010edd.1_Missense_Mutation_p.A168V	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	168	C2H2-type 2.				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)																	---	---	---	---
LSM14A	26065	broad.mit.edu	37	19	34712518	34712518	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:34712518C>A	uc002nvb.3	+	9	1439	c.1243C>A	c.(1243-1245)CTT>ATT	p.L415I	LSM14A_uc002nva.3_Missense_Mutation_p.L415I|LSM14A_uc010xru.1_Missense_Mutation_p.L374I|LSM14A_uc002nvc.3_Missense_Mutation_p.L221I	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	LSM14 homolog A isoform a	415					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				skin(1)	1	Esophageal squamous(110;0.162)																	---	---	---	---
HPN	3249	broad.mit.edu	37	19	35556774	35556774	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35556774C>T	uc002nxq.1	+	13	1298	c.1053C>T	c.(1051-1053)GGC>GGT	p.G351G	HPN_uc002nxr.1_Silent_p.G351G|HPN_uc002nxs.1_Silent_p.G193G|HPN_uc010xsh.1_Silent_p.G320G|HPN_uc002nxt.1_Silent_p.G235G|LOC100128675_uc010xsi.1_Intron	NM_002151	NP_002142	P05981	HEPS_HUMAN	hepsin	351	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)													---	---	---	---
LSR	51599	broad.mit.edu	37	19	35752847	35752847	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35752847T>C	uc002nyl.2	+	4	961	c.738T>C	c.(736-738)GCT>GCC	p.A246A	LSR_uc002nym.2_Intron|LSR_uc002nyn.2_Intron|LSR_uc002nyo.2_Intron|LSR_uc010xsr.1_Intron|LSR_uc002nyp.2_Silent_p.A209A	NM_205834	NP_991403	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	246	Extracellular (Potential).				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity				0	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)															---	---	---	---
MAG	4099	broad.mit.edu	37	19	35800926	35800926	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35800926G>A	uc002nyy.1	+	8	1530	c.1381G>A	c.(1381-1383)GTG>ATG	p.V461M	MAG_uc002nyx.1_Missense_Mutation_p.V461M|MAG_uc010eds.1_Missense_Mutation_p.V436M|MAG_uc002nyz.1_Missense_Mutation_p.V461M	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	461	Ig-like C2-type 4.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)															---	---	---	---
FFAR3	2865	broad.mit.edu	37	19	35850476	35850476	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35850476G>A	uc002nzd.2	+	2	759	c.684G>A	c.(682-684)GCG>GCA	p.A228A	FFAR3_uc010xsu.1_Intron	NM_005304	NP_005295	O14843	FFAR3_HUMAN	free fatty acid receptor 3	228	Helical; Name=6; (Potential).					integral to plasma membrane	G-protein coupled receptor activity|lipid binding				0	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)															---	---	---	---
MLL4	9757	broad.mit.edu	37	19	36211852	36211852	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36211852C>T	uc010eei.2	+	3	1603	c.1603C>T	c.(1603-1605)CGC>TGC	p.R535C		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	535	Pro-rich.				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)															---	---	---	---
WDR62	284403	broad.mit.edu	37	19	36594727	36594727	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36594727G>T	uc002odc.2	+	30	4073	c.3982G>T	c.(3982-3984)GAA>TAA	p.E1328*	WDR62_uc002odd.2_Nonsense_Mutation_p.E1333*	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	1328					cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)															---	---	---	---
ZNF565	147929	broad.mit.edu	37	19	36686014	36686014	+	Missense_Mutation	SNP	T	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36686014T>A	uc002odn.2	-	3	162	c.54A>T	c.(52-54)GAA>GAT	p.E18D	ZNF565_uc010ees.2_Translation_Start_Site|ZNF565_uc002odo.2_Missense_Mutation_p.E18D|ZNF565_uc002odp.1_Missense_Mutation_p.E18D	NM_152477	NP_689690	Q8N9K5	ZN565_HUMAN	zinc finger protein 565	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)															---	---	---	---
HKR1	284459	broad.mit.edu	37	19	37854405	37854405	+	Silent	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37854405A>C	uc002ogb.2	+	6	1977	c.1708A>C	c.(1708-1710)AGG>CGG	p.R570R	HKR1_uc002ofx.2_Silent_p.R286R|HKR1_uc002ofy.2_Silent_p.R286R|HKR1_uc002oga.2_Silent_p.R552R|HKR1_uc010xto.1_Silent_p.R552R|HKR1_uc002ogc.2_Silent_p.R551R|HKR1_uc010xtp.1_Silent_p.R509R|HKR1_uc002ogd.2_Silent_p.R509R	NM_181786	NP_861451	P10072	HKR1_HUMAN	GLI-Kruppel family member HKR1	570	C2H2-type 10.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---
PPP1R14A	94274	broad.mit.edu	37	19	38742064	38742064	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38742064G>A	uc002ohq.2	-	4	531	c.338C>T	c.(337-339)GCA>GTA	p.A113V	PPP1R14A_uc010efv.2_Missense_Mutation_p.A86V	NM_033256	NP_150281	Q96A00	PP14A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	113	Inhibitory.				regulation of phosphorylation	cytoplasm	protein binding|protein phosphatase inhibitor activity				0	all_cancers(60;9.57e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)															---	---	---	---
RYR1	6261	broad.mit.edu	37	19	39078063	39078063	+	3'UTR	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39078063C>T	uc002oit.2	+	106					RYR1_uc002oiu.2_3'UTR	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)													---	---	---	---
HNRNPL	3191	broad.mit.edu	37	19	39329634	39329634	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39329634G>A	uc010xul.1	-	9	1266	c.1255C>T	c.(1255-1257)CCG>TCG	p.P419S	HNRNPL_uc010ege.1_Intron|HNRNPL_uc002ojj.1_Missense_Mutation_p.P75S|HNRNPL_uc002ojo.1_5'UTR|HNRNPL_uc002ojk.2_Missense_Mutation_p.P75S|HNRNPL_uc002ojl.2_Missense_Mutation_p.P75S|HNRNPL_uc010xum.1_Missense_Mutation_p.P286S|HNRNPL_uc002ojp.1_Missense_Mutation_p.P75S	NM_001533	NP_001524	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	419	RRM 3.				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)															---	---	---	---
IL28B	282617	broad.mit.edu	37	19	39735458	39735458	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39735458C>T	uc010xut.1	-	1	154	c.150G>A	c.(148-150)CTG>CTA	p.L50L	IL28B_uc010xuu.1_Silent_p.L50L	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	interleukin 28B	50					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)															---	---	---	---
MAP3K10	4294	broad.mit.edu	37	19	40704384	40704384	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40704384G>A	uc002ona.2	+	2	1073	c.785G>A	c.(784-786)AGC>AAC	p.S262N	MAP3K10_uc002onb.2_5'UTR	NM_002446	NP_002437	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase	262	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			ovary(2)|lung(2)|skin(1)|pancreas(1)	6																		---	---	---	---
HIPK4	147746	broad.mit.edu	37	19	40886552	40886552	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40886552G>A	uc002onp.2	-	3	1631	c.1346C>T	c.(1345-1347)GCG>GTG	p.A449V		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	449						cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)															---	---	---	---
C19orf54	284325	broad.mit.edu	37	19	41248565	41248565	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41248565G>A	uc002oou.1	-	6	949	c.829C>T	c.(829-831)CCA>TCA	p.P277S	C19orf54_uc002oow.1_Missense_Mutation_p.P105S|C19orf54_uc002oox.1_RNA|C19orf54_uc002ooy.1_Intron|C19orf54_uc010xvs.1_RNA	NM_198476	NP_940878	Q5BKX5	CS054_HUMAN	hypothetical protein LOC284325	277											0			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)															---	---	---	---
B9D2	80776	broad.mit.edu	37	19	41860739	41860739	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41860739G>A	uc002oqj.2	-	4	614	c.394C>T	c.(394-396)CCG>TCG	p.P132S	CYP2F1_uc010xvw.1_Intron|TGFB1_uc002oqh.1_5'Flank|TMEM91_uc002oqi.2_Intron	NM_030578	NP_085055	Q9BPU9	B9D2_HUMAN	B9 protein domain 2	132					cilium assembly|mitotic prometaphase	centrosome|cilium axoneme|cytosol|microtubule basal body|nucleus	gamma-tubulin binding			ovary(1)	1																		---	---	---	---
ZNF526	116115	broad.mit.edu	37	19	42729561	42729561	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42729561A>G	uc002osz.1	+	3	1162	c.1006A>G	c.(1006-1008)ACC>GCC	p.T336A		NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	zinc finger protein 526	336	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0704)																---	---	---	---
ZNF526	116115	broad.mit.edu	37	19	42730480	42730480	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42730480C>T	uc002osz.1	+	3	2081	c.1925C>T	c.(1924-1926)GCG>GTG	p.A642V		NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	zinc finger protein 526	642					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0704)																---	---	---	---
TMEM145	284339	broad.mit.edu	37	19	42827952	42827952	+	Intron	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42827952C>T	uc002otk.1	+						MEGF8_uc002otl.3_5'Flank	NM_173633	NP_775904			transmembrane protein 145							integral to membrane					0		Prostate(69;0.00682)																---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42848624	42848624	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42848624G>A	uc002otl.3	+	11	2455	c.1820G>A	c.(1819-1821)CGC>CAC	p.R607H	MEGF8_uc002otm.3_Missense_Mutation_p.R148H	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	607	Extracellular (Potential).|PSI 1.					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)																---	---	---	---
PSG1	5669	broad.mit.edu	37	19	43382143	43382143	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43382143C>T	uc002ovb.2	-	2	490	c.352G>A	c.(352-354)GGA>AGA	p.G118R	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.G118R|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.G118R|PSG1_uc010eio.1_Missense_Mutation_p.G118R|PSG1_uc002oux.1_Missense_Mutation_p.G47R|PSG1_uc002ouy.1_Missense_Mutation_p.G118R|PSG1_uc002ouz.1_Missense_Mutation_p.G118R|PSG1_uc002ova.1_Missense_Mutation_p.G118R|PSG1_uc002ovc.2_Missense_Mutation_p.G118R|PSG1_uc002ovd.1_Missense_Mutation_p.G118R	NM_006905	NP_008836	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	118	Ig-like V-type.				female pregnancy	extracellular region				ovary(2)	2		Prostate(69;0.00682)																---	---	---	---
ZNF235	9310	broad.mit.edu	37	19	44792076	44792076	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44792076G>A	uc002oza.3	-	5	1615	c.1512C>T	c.(1510-1512)AGC>AGT	p.S504S	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Silent_p.S500S|ZNF235_uc010xwx.1_Silent_p.S418S	NM_004234	NP_004225	Q14590	ZN235_HUMAN	zinc finger protein 93 homolog	504	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)	3		Prostate(69;0.0352)|all_neural(266;0.116)																---	---	---	---
PVRL2	5819	broad.mit.edu	37	19	45385524	45385524	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45385524G>A	uc002ozw.1	+	6	1489	c.1099G>A	c.(1099-1101)GCC>ACC	p.A367T		NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	poliovirus receptor related 2 isoform delta	367	Helical; (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)														---	---	---	---
MARK4	57787	broad.mit.edu	37	19	45783878	45783878	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45783878C>T	uc002pbb.1	+	12	1167	c.1162C>T	c.(1162-1164)CGG>TGG	p.R388W	MARK4_uc002paz.1_3'UTR|MARK4_uc002pba.1_Missense_Mutation_p.R388W|MARK4_uc002pbc.1_Missense_Mutation_p.R254W			Q96L34	MARK4_HUMAN	RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;	388					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			central_nervous_system(2)|large_intestine(1)	3		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)														---	---	---	---
CYTH2	9266	broad.mit.edu	37	19	48982376	48982376	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48982376G>A	uc002pjj.3	+						CYTH2_uc002pji.2_Intron	NM_017457	NP_059431			cytohesin 2 isoform 1						actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1																		---	---	---	---
FAM83E	54854	broad.mit.edu	37	19	49107020	49107020	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49107020C>T	uc002pjn.2	-	4	972	c.907G>A	c.(907-909)GGT>AGT	p.G303S	SPACA4_uc002pjo.2_5'Flank	NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	hypothetical protein LOC54854	303										ovary(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;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)														---	---	---	---
PPFIA3	8541	broad.mit.edu	37	19	49645318	49645318	+	Silent	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49645318C>A	uc002pmr.2	+	20	2822	c.2490C>A	c.(2488-2490)CGC>CGA	p.R830R	PPFIA3_uc010yai.1_RNA|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Silent_p.R698R|PPFIA3_uc002pmt.2_5'Flank	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	830						cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)														---	---	---	---
RPL13A	23521	broad.mit.edu	37	19	49993758	49993758	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49993758C>T	uc002pny.2	+	4	203	c.181C>T	c.(181-183)CGG>TGG	p.R61W	RPL13A_uc002pnz.2_5'UTR|RPL13A_uc002poa.2_Missense_Mutation_p.R51W|SNORD33_uc010emz.1_5'Flank|SNORD34_uc010ena.1_5'Flank|SNORD35A_uc010enb.1_5'Flank	NM_012423	NP_036555	P40429	RL13A_HUMAN	ribosomal protein L13a	61					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome				0		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)														---	---	---	---
SCAF1	58506	broad.mit.edu	37	19	50154616	50154616	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50154616G>A	uc002poq.2	+	7	1094	c.970G>A	c.(970-972)GCG>ACG	p.A324T		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	324					mRNA processing|RNA splicing	nucleus	RNA binding				0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)														---	---	---	---
LRRC4B	94030	broad.mit.edu	37	19	51022666	51022666	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51022666G>A	uc002pss.2	-	3	441	c.304C>T	c.(304-306)CGG>TGG	p.R102W		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	102	LRR 1.|Extracellular (Potential).					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)														---	---	---	---
KLK8	11202	broad.mit.edu	37	19	51503767	51503767	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51503767G>A	uc002pur.1	-	3	322	c.143C>T	c.(142-144)GCG>GTG	p.A48V	KLK9_uc002puw.1_RNA|KLK8_uc002puq.1_Missense_Mutation_p.A93V|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Missense_Mutation_p.A48V|KLK9_uc002puv.1_Intron	NM_007196	NP_009127	O60259	KLK8_HUMAN	kallikrein 8 isoform 1 preproprotein	48	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)	1		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)														---	---	---	---
ZNF600	162966	broad.mit.edu	37	19	53269396	53269396	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53269396C>A	uc002qab.3	-	3	1899	c.1613G>T	c.(1612-1614)AGG>ATG	p.R538M		NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	538	C2H2-type 14.				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)														---	---	---	---
ZNF347	84671	broad.mit.edu	37	19	53644036	53644036	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53644036T>C	uc002qbb.1	-	5	2114	c.2045A>G	c.(2044-2046)CAG>CGG	p.Q682R	ZNF347_uc010eql.1_Missense_Mutation_p.Q683R|ZNF347_uc002qbc.1_Missense_Mutation_p.Q683R	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	682	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)														---	---	---	---
ZNF677	342926	broad.mit.edu	37	19	53741121	53741121	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53741121C>T	uc002qbf.1	-	5	1044	c.859G>A	c.(859-861)GGA>AGA	p.G287R	ZNF677_uc002qbg.1_Missense_Mutation_p.G287R	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	zinc finger protein 677	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00352)														---	---	---	---
MIR518B	574474	broad.mit.edu	37	19	54206014	54206014	+	RNA	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54206014A>G	hsa-mir-518b|MI0003156	+			c.24A>G																				0																		---	---	---	---
MIR518B	574474	broad.mit.edu	37	19	54206046	54206046	+	RNA	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54206046C>T	hsa-mir-518b|MI0003156	+			c.56C>T																				0																		---	---	---	---
NLRP12	91662	broad.mit.edu	37	19	54297338	54297338	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54297338G>A	uc002qch.3	-	10	3371	c.3151C>T	c.(3151-3153)CGA>TGA	p.R1051*	NLRP12_uc010eqw.2_Nonsense_Mutation_p.R277*|NLRP12_uc002qci.3_Nonsense_Mutation_p.R994*|NLRP12_uc002qcj.3_Nonsense_Mutation_p.R1052*|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_3'UTR	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	1051					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)														---	---	---	---
MYADM	91663	broad.mit.edu	37	19	54376803	54376803	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54376803G>A	uc002qcl.2	+	3	168	c.20G>A	c.(19-21)CGC>CAC	p.R7H	MYADM_uc002qcm.2_Missense_Mutation_p.R7H|MYADM_uc002qcn.2_Missense_Mutation_p.R7H|MYADM_uc002qco.2_Missense_Mutation_p.R7H|MYADM_uc002qcp.2_Missense_Mutation_p.R7H	NM_001020820	NP_001018656	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	7						integral to membrane				ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)												OREG0003650	type=REGULATORY REGION|Gene=MYADM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	---	---	---
PRKCG	5582	broad.mit.edu	37	19	54401306	54401306	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54401306C>T	uc002qcq.1	+	10	1315	c.1033C>T	c.(1033-1035)CGC>TGC	p.R345C	PRKCG_uc010yef.1_Silent_p.D315D|PRKCG_uc010yeg.1_Missense_Mutation_p.R345C|PRKCG_uc010yeh.1_Missense_Mutation_p.R232C	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	345					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)														---	---	---	---
PRKCG	5582	broad.mit.edu	37	19	54403976	54403976	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54403976C>T	uc002qcq.1	+	14	1830	c.1548C>T	c.(1546-1548)TGC>TGT	p.C516C	PRKCG_uc010yeg.1_Silent_p.C516C|PRKCG_uc010yeh.1_Silent_p.C403C	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	516	Protein kinase.				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)														---	---	---	---
LENG1	79165	broad.mit.edu	37	19	54662025	54662025	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54662025C>T	uc002qdm.2	-	2	320	c.307G>A	c.(307-309)GAG>AAG	p.E103K		NM_024316	NP_077292	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	103	Potential.									ovary(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)																	---	---	---	---
MBOAT7	79143	broad.mit.edu	37	19	54682666	54682666	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54682666G>A	uc002qdq.2	-						MBOAT7_uc010erg.2_Intron|MBOAT7_uc010yem.1_Intron|MBOAT7_uc002qdr.2_Intron|MBOAT7_uc002qds.2_Intron|MBOAT7_uc010yen.1_Intron|MBOAT7_uc002qdt.3_Intron	NM_024298	NP_077274			membrane bound O-acyltransferase domain						phospholipid biosynthetic process	integral to membrane	acyltransferase activity				0	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)																	---	---	---	---
LILRB3	11025	broad.mit.edu	37	19	54720971	54720971	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54720971G>A	uc002qef.1	-	13	1998	c.1887C>T	c.(1885-1887)GCC>GCT	p.A629A	LILRB3_uc002qee.1_Silent_p.A630A|LILRB3_uc002qeh.1_Silent_p.A629A|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Silent_p.A629A|LILRA6_uc002qek.1_Silent_p.A630A|LILRB3_uc010erh.1_Silent_p.A646A|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Silent_p.A629A|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Silent_p.A630A|LILRB3_uc002qep.1_Silent_p.A630A|LILRB3_uc002qeq.1_Silent_p.A629A|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Silent_p.A630A	NM_006864	NP_006855	O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor,	629	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			skin(2)|ovary(1)	3	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;0.105)														---	---	---	---
LILRB2	10288	broad.mit.edu	37	19	54780248	54780248	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54780248C>T	uc002qfb.2	-	11	1812	c.1546G>A	c.(1546-1548)GGC>AGC	p.G516S	LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Intron|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.G515S|LILRB2_uc010yet.1_Missense_Mutation_p.G400S	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor,	516	Cytoplasmic (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)														---	---	---	---
ZNF416	55659	broad.mit.edu	37	19	58084147	58084147	+	Silent	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58084147A>C	uc002qpf.2	-	4	1296	c.1125T>G	c.(1123-1125)ACT>ACG	p.T375T	ZNF547_uc002qpm.3_Intron	NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	375	C2H2-type 5.				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;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)														---	---	---	---
ZNF417	147687	broad.mit.edu	37	19	58420174	58420174	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58420174G>A	uc002qqq.2	-	3	1671	c.1472C>T	c.(1471-1473)CCG>CTG	p.P491L	ZNF417_uc010yhm.1_Missense_Mutation_p.P448L|ZNF417_uc002qqr.2_Missense_Mutation_p.P490L	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	491					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)														---	---	---	---
ZNF497	162968	broad.mit.edu	37	19	58868484	58868484	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58868484G>A	uc002qsh.1	-	3	707	c.518C>T	c.(517-519)GCG>GTG	p.A173V	A1BG_uc002qsf.1_Intron|ZNF497_uc002qsi.1_Missense_Mutation_p.A173V|uc002qsj.1_5'UTR|uc002qsk.1_5'Flank	NM_198458	NP_940860	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	173	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)	2		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|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;0.168)|GBM - Glioblastoma multiforme(193;0.0278)														---	---	---	---
ZBTB45	84878	broad.mit.edu	37	19	59028581	59028581	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:59028581G>A	uc002qtd.2	-	2	752	c.460C>T	c.(460-462)CGC>TGC	p.R154C	ZBTB45_uc002qte.2_Missense_Mutation_p.R154C|ZBTB45_uc002qtf.2_Missense_Mutation_p.R154C	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	154	Pro-rich.				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;0.0165)|Lung(386;0.18)												OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
SIGLEC1	6614	broad.mit.edu	37	20	3683917	3683917	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3683917A>G	uc002wja.2	-	5	1155	c.1155T>C	c.(1153-1155)ACT>ACC	p.T385T	SIGLEC1_uc002wiz.3_Silent_p.T385T|SIGLEC1_uc002wjc.2_Silent_p.T296T	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	385	Extracellular (Potential).|Ig-like C2-type 3.				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																		---	---	---	---
C20orf196	149840	broad.mit.edu	37	20	5843700	5843700	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:5843700A>C	uc002wmf.2	+	3	296	c.209A>C	c.(208-210)AAC>ACC	p.N70T		NM_152504	NP_689717	Q8IYI0	CT196_HUMAN	hypothetical protein LOC149840	70											0																		---	---	---	---
BMP2	650	broad.mit.edu	37	20	6759223	6759223	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:6759223C>T	uc002wmu.1	+	3	1463	c.678C>T	c.(676-678)TTC>TTT	p.F226F		NM_001200	NP_001191	P12643	BMP2_HUMAN	bone morphogenetic protein 2 preproprotein	226					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			ovary(1)|breast(1)	2					Simvastatin(DB00641)													---	---	---	---
SNX5	27131	broad.mit.edu	37	20	17943488	17943488	+	Intron	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:17943488T>G	uc002wqc.2	-						SNX5_uc002wqb.2_5'Flank|SNX5_uc002wqd.2_Intron|SNX5_uc002wqe.2_Intron|SNX5_uc010zrt.1_Intron|SNORD17_uc002wqf.1_RNA	NM_014426	NP_055241			sorting nexin 5						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																		---	---	---	---
ZNF337	26152	broad.mit.edu	37	20	25656021	25656021	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:25656021G>A	uc002wva.2	-	4	2425	c.1903C>T	c.(1903-1905)CGA>TGA	p.R635*	uc002wuz.2_RNA|ZNF337_uc010ztg.1_Nonsense_Mutation_p.R603*|ZNF337_uc002wvb.2_Nonsense_Mutation_p.R635*|ZNF337_uc002wvc.2_Nonsense_Mutation_p.R635*	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	635	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF337	26152	broad.mit.edu	37	20	25657112	25657112	+	Missense_Mutation	SNP	C	T	T	rs147339647	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:25657112C>T	uc002wva.2	-	4	1334	c.812G>A	c.(811-813)CGA>CAA	p.R271Q	uc002wuz.2_RNA|ZNF337_uc010ztg.1_Missense_Mutation_p.R239Q|ZNF337_uc002wvb.2_Missense_Mutation_p.R271Q|ZNF337_uc002wvc.2_Missense_Mutation_p.R271Q	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	271	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
E2F1	1869	broad.mit.edu	37	20	32264963	32264963	+	Silent	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:32264963G>T	uc002wzu.3	-	6	1154	c.1014C>A	c.(1012-1014)CCC>CCA	p.P338P	NECAB3_uc002wzm.3_5'Flank|NECAB3_uc002wzn.3_5'Flank|NECAB3_uc002wzo.3_5'Flank|NECAB3_uc002wzp.3_5'Flank|NECAB3_uc002wzq.3_5'Flank|NECAB3_uc002wzr.3_5'Flank|NECAB3_uc010geo.2_5'Flank	NM_005225	NP_005216	Q01094	E2F1_HUMAN	E2F transcription factor 1	338	Required for interaction with TRIM28.				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	32664892	32664892	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:32664892C>A	uc002xab.2	+	8	1015	c.717C>A	c.(715-717)AGC>AGA	p.S239R	RALY_uc002xac.2_Missense_Mutation_p.S223R|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Missense_Mutation_p.S239R	NM_016732	NP_057951	Q9UKM9	RALY_HUMAN	RNA binding protein (autoantigenic,	239	Epitope (recognized by BKRF1 antibodies).|Poly-Gly.					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(1)	1																		---	---	---	---
PPP1R16B	26051	broad.mit.edu	37	20	37464809	37464809	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:37464809G>A	uc002xje.2	+	2	430	c.241G>A	c.(241-243)GCC>ACC	p.A81T	PPP1R16B_uc010ggc.2_Missense_Mutation_p.A81T	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	protein phosphatase 1 regulatory inhibitor	81					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)																---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	40743943	40743943	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:40743943G>A	uc002xkg.2	-	22	3179	c.2995C>T	c.(2995-2997)CGA>TGA	p.R999*	PTPRT_uc010ggj.2_Nonsense_Mutation_p.R1018*|PTPRT_uc010ggi.2_Nonsense_Mutation_p.R202*	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	999	Tyrosine-protein phosphatase 1.|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)																---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	40864897	40864897	+	Silent	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:40864897T>G	uc002xkg.2	-	15	2498	c.2314A>C	c.(2314-2316)AGA>CGA	p.R772R	PTPRT_uc010ggj.2_Silent_p.R791R	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	772	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)																---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	40980816	40980816	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:40980816T>C	uc002xkg.2	-	10	1854	c.1670A>G	c.(1669-1671)TAC>TGC	p.Y557C	PTPRT_uc010ggj.2_Missense_Mutation_p.Y557C	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	557	Extracellular (Potential).|Fibronectin type-III 3.				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)																---	---	---	---
JPH2	57158	broad.mit.edu	37	20	42789052	42789052	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:42789052G>A	uc002xli.1	-							NM_020433	NP_065166			junctophilin 2 isoform 1						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)															---	---	---	---
NEURL2	140825	broad.mit.edu	37	20	44519036	44519036	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44519036C>T	uc002xqg.1	-	1	866	c.595G>A	c.(595-597)GAT>AAT	p.D199N	C20orf165_uc002xqf.2_5'Flank|CTSA_uc002xqh.2_5'Flank|CTSA_uc002xqj.3_5'Flank|CTSA_uc002xqi.2_5'Flank|CTSA_uc010zxi.1_5'Flank|CTSA_uc002xqk.3_5'Flank	NM_080749	NP_542787	Q9BR09	NEUL2_HUMAN	neuralized-like protein 2	199	NHR.				intracellular signal transduction						0		Myeloproliferative disorder(115;0.0122)														OREG0025985	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ZNF334	55713	broad.mit.edu	37	20	45131154	45131154	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:45131154C>T	uc002xsc.2	-	5	1008	c.824G>A	c.(823-825)CGT>CAT	p.R275H	ZNF334_uc002xsa.2_Missense_Mutation_p.R298H|ZNF334_uc002xsb.2_Missense_Mutation_p.R237H|ZNF334_uc002xsd.2_Missense_Mutation_p.R237H|ZNF334_uc010ghl.2_Missense_Mutation_p.R274H	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	275	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)																---	---	---	---
SLC13A3	64849	broad.mit.edu	37	20	45192043	45192043	+	Intron	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:45192043C>A	uc002xsf.1	-						SLC13A3_uc010ghn.1_Intron|SLC13A3_uc010zxw.1_Intron|SLC13A3_uc002xsg.1_Intron|SLC13A3_uc010gho.1_Intron|SLC13A3_uc002xse.1_Intron|SLC13A3_uc010ghm.1_Intron|SLC13A3_uc010zxv.1_Intron	NM_022829	NP_073740			solute carrier family 13 member 3 isoform a							integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)													---	---	---	---
NCOA3	8202	broad.mit.edu	37	20	46267789	46267789	+	Silent	SNP	T	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:46267789T>A	uc002xtk.2	+	14	2755	c.2550T>A	c.(2548-2550)CCT>CCA	p.P850P	NCOA3_uc010ght.1_Silent_p.P860P|NCOA3_uc002xtl.2_Silent_p.P850P|NCOA3_uc002xtm.2_Silent_p.P850P|NCOA3_uc002xtn.2_Silent_p.P850P|NCOA3_uc010zyc.1_Silent_p.P645P	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	850					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																		---	---	---	---
ARFGEF2	10564	broad.mit.edu	37	20	47591403	47591403	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47591403C>T	uc002xtx.3	+	13	1918	c.1766C>T	c.(1765-1767)ACC>ATC	p.T589I		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	589					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)															---	---	---	---
MOCS3	27304	broad.mit.edu	37	20	49575694	49575694	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:49575694C>T	uc002xvy.1	+	1	332	c.315C>T	c.(313-315)GGC>GGT	p.G105G	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	105					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			skin(2)|ovary(1)	3																		---	---	---	---
ATP9A	10079	broad.mit.edu	37	20	50273605	50273605	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50273605C>T	uc002xwg.1	-	14	1378	c.1378G>A	c.(1378-1380)GTG>ATG	p.V460M	ATP9A_uc010gih.1_Missense_Mutation_p.V324M|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	460	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																		---	---	---	---
ZFP64	55734	broad.mit.edu	37	20	50705100	50705100	+	Silent	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50705100G>T	uc002xwk.2	-	8	1408	c.1059C>A	c.(1057-1059)ACC>ACA	p.T353T	ZFP64_uc002xwj.2_Silent_p.T134T	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																		---	---	---	---
TSHZ2	128553	broad.mit.edu	37	20	51873029	51873029	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:51873029T>G	uc002xwo.2	+	2	3988	c.3032T>G	c.(3031-3033)CTC>CGC	p.L1011R		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1011	C2H2-type 5.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)															---	---	---	---
C20orf43	51507	broad.mit.edu	37	20	55059247	55059247	+	Splice_Site	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:55059247T>C	uc002xxt.2	+	5	584	c.477_splice	c.e5+2	p.T159_splice	C20orf43_uc010zzf.1_Splice_Site_p.T189_splice|C20orf43_uc002xxu.2_Splice_Site_p.T159_splice|C20orf43_uc002xxv.2_Splice_Site_p.T159_splice	NM_016407	NP_057491			hypothetical protein LOC51507											ovary(1)	1			Colorectal(105;0.202)															---	---	---	---
PMEPA1	56937	broad.mit.edu	37	20	56234599	56234599	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:56234599T>C	uc002xyq.2	-	2	657	c.264A>G	c.(262-264)TCA>TCG	p.S88S	PMEPA1_uc002xyr.2_Silent_p.S38S|PMEPA1_uc002xys.2_Silent_p.S53S|PMEPA1_uc002xyt.2_Silent_p.S38S	NM_020182	NP_064567	Q969W9	PMEPA_HUMAN	transmembrane prostate androgen-induced protein	88	Cytoplasmic (Potential).				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			pancreas(1)	1																		---	---	---	---
CDH26	60437	broad.mit.edu	37	20	58562650	58562650	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:58562650C>T	uc002ybe.2	+	8	1280	c.980C>T	c.(979-981)TCG>TTG	p.S327L	CDH26_uc002ybf.1_5'Flank|CDH26_uc010zzy.1_RNA	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	327	Extracellular (Potential).|Cadherin 3.				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)															---	---	---	---
CDH26	60437	broad.mit.edu	37	20	58562651	58562651	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:58562651G>A	uc002ybe.2	+	8	1281	c.981G>A	c.(979-981)TCG>TCA	p.S327S	CDH26_uc002ybf.1_5'Flank|CDH26_uc010zzy.1_RNA	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	327	Extracellular (Potential).|Cadherin 3.				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)															---	---	---	---
CDH4	1002	broad.mit.edu	37	20	60448911	60448911	+	Silent	SNP	C	T	T	rs148871297	by1000genomes	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:60448911C>T	uc002ybn.1	+	7	1019	c.1005C>T	c.(1003-1005)AGC>AGT	p.S335S	CDH4_uc002ybp.1_Silent_p.S261S	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	335	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)															---	---	---	---
LAMA5	3911	broad.mit.edu	37	20	60893940	60893940	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:60893940G>A	uc002ycq.2	-	52	7068	c.7001C>T	c.(7000-7002)CCG>CTG	p.P2334L		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	2334	Domain II and I.				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)													---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61512757	61512757	+	Silent	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61512757C>A	uc002ydr.1	-	16	4815	c.4551G>T	c.(4549-4551)TCG>TCT	p.S1517S	DIDO1_uc002yds.1_Silent_p.S1517S	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1517					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)																	---	---	---	---
YTHDF1	54915	broad.mit.edu	37	20	61834968	61834968	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61834968A>G	uc002yeh.2	-	4	618	c.324T>C	c.(322-324)CCT>CCC	p.P108P	YTHDF1_uc011aaq.1_Silent_p.P58P	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	108										ovary(2)	2																		---	---	---	---
SLC2A4RG	56731	broad.mit.edu	37	20	62373369	62373369	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62373369C>T	uc002ygq.2	+	4	594	c.539C>T	c.(538-540)GCC>GTC	p.A180V	SLC2A4RG_uc002ygr.2_Missense_Mutation_p.A75V|SLC2A4RG_uc011abj.1_Missense_Mutation_p.A75V|SLC2A4RG_uc002ygs.2_Intron|SLC2A4RG_uc002ygt.2_5'UTR	NM_020062	NP_064446	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	180						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)																	---	---	---	---
ZBTB46	140685	broad.mit.edu	37	20	62384092	62384092	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62384092C>T	uc002ygv.1	-	4	1546	c.1345G>A	c.(1345-1347)GAG>AAG	p.E449K	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	449	C2H2-type 2.				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)																	---	---	---	---
ZNF512B	57473	broad.mit.edu	37	20	62592694	62592694	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62592694C>T	uc002yhl.1	-	16	2449	c.2395G>A	c.(2395-2397)GTC>ATC	p.V799I		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	zinc finger protein 512B	799	C2H2-type 7.				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)																	---	---	---	---
ZNF512B	57473	broad.mit.edu	37	20	62595228	62595228	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62595228G>A	uc002yhl.1	-	9	1573	c.1519C>T	c.(1519-1521)CGC>TGC	p.R507C		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	zinc finger protein 512B	507					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)																	---	---	---	---
LIPI	149998	broad.mit.edu	37	21	15579144	15579144	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:15579144A>G	uc002yjm.2	-	1	111	c.101T>C	c.(100-102)CTG>CCG	p.L34P		NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	lipase, member I	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			ovary(2)	2				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)														---	---	---	---
CHODL	140578	broad.mit.edu	37	21	19628904	19628904	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:19628904G>T	uc002ykv.2	+	2	549	c.158G>T	c.(157-159)AGC>ATC	p.S53I	CHODL_uc002ykr.2_Missense_Mutation_p.S12I|CHODL_uc002yks.2_Missense_Mutation_p.S12I|CHODL_uc002ykt.2_Missense_Mutation_p.S12I|CHODL_uc002yku.2_Missense_Mutation_p.S12I	NM_024944	NP_079220	Q9H9P2	CHODL_HUMAN	chondrolectin precursor	53	Extracellular (Potential).|C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			upper_aerodigestive_tract(1)	1		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)														---	---	---	---
TIAM1	7074	broad.mit.edu	37	21	32492823	32492823	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:32492823C>T	uc002yow.1	-	29	5111	c.4639G>A	c.(4639-4641)GCG>ACG	p.A1547T	TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Missense_Mutation_p.A1487T	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1547					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10																		---	---	---	---
TIAM1	7074	broad.mit.edu	37	21	32590005	32590005	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:32590005C>T	uc002yow.1	-	10	2478	c.2006G>A	c.(2005-2007)CGC>CAC	p.R669H	TIAM1_uc011adk.1_Missense_Mutation_p.R669H|TIAM1_uc011adl.1_Missense_Mutation_p.R669H|TIAM1_uc002yox.1_Missense_Mutation_p.R277H	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	669					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10																		---	---	---	---
OLIG2	10215	broad.mit.edu	37	21	34399407	34399407	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34399407G>A	uc002yqx.1	+	2	395	c.237G>A	c.(235-237)TCG>TCA	p.S79S		NM_005806	NP_005797	Q13516	OLIG2_HUMAN	oligodendrocyte lineage transcription factor 2	79	Poly-Ser.					cytoplasm|nucleus|plasma membrane	DNA binding			central_nervous_system(2)	2								T	TRA@	T-ALL								---	---	---	---
PRDM15	63977	broad.mit.edu	37	21	43274836	43274836	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43274836G>A	uc002yzq.1	-	12	1586	c.1475C>T	c.(1474-1476)GCC>GTC	p.A492V	PRDM15_uc002yzo.2_Missense_Mutation_p.A163V|PRDM15_uc002yzp.2_Missense_Mutation_p.A163V|PRDM15_uc002yzr.1_Missense_Mutation_p.A163V	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	492	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
RSPH1	89765	broad.mit.edu	37	21	43906550	43906550	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43906550C>T	uc002zbg.2	-	4	401	c.296G>A	c.(295-297)CGG>CAG	p.R99Q		NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	testis-specific gene A2	99	MORN 4.				meiosis	cytosol|nucleus				ovary(1)	1																		---	---	---	---
TRAPPC10	7109	broad.mit.edu	37	21	45494326	45494326	+	Missense_Mutation	SNP	G	T	T	rs148635981		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45494326G>T	uc002zea.2	+	8	1329	c.1160G>T	c.(1159-1161)GGG>GTG	p.G387V	TRAPPC10_uc010gpo.2_Missense_Mutation_p.G98V	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	387					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2																		---	---	---	---
ITGB2	3689	broad.mit.edu	37	21	46320303	46320303	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:46320303C>T	uc002zgd.2	-	6	873	c.829G>A	c.(829-831)GCC>ACC	p.A277T	ITGB2_uc002zge.2_Missense_Mutation_p.A277T|ITGB2_uc002zgf.3_Missense_Mutation_p.A277T|ITGB2_uc011afl.1_Missense_Mutation_p.A199T|ITGB2_uc010gpw.2_Missense_Mutation_p.A220T|ITGB2_uc002zgg.2_Missense_Mutation_p.A277T	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	277	Extracellular (Potential).|VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)													---	---	---	---
PCNT	5116	broad.mit.edu	37	21	47832899	47832899	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47832899G>A	uc002zji.3	+	29	6250	c.6143G>A	c.(6142-6144)GGC>GAC	p.G2048D	PCNT_uc002zjj.2_Missense_Mutation_p.G1930D	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	2048					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)																	---	---	---	---
ARVCF	421	broad.mit.edu	37	22	19967605	19967605	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:19967605G>A	uc002zqz.2	-	6	1328	c.1057C>T	c.(1057-1059)CCG>TCG	p.P353S	ARVCF_uc002zqy.2_5'Flank|ARVCF_uc002zra.2_3'UTR	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	353	ARM 1.				cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)																	---	---	---	---
MIR1306	100302197	broad.mit.edu	37	22	20073609	20073609	+	RNA	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:20073609A>G	hsa-mir-1306|MI0006443	+			c.29A>G			DGCR8_uc002zri.2_Silent_p.Q41Q|DGCR8_uc010grz.2_Silent_p.Q41Q|DGCR8_uc002zrj.2_5'Flank																	0																		---	---	---	---
MED15	51586	broad.mit.edu	37	22	20918760	20918760	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:20918760G>T	uc002zsp.2	+	6	555	c.475G>T	c.(475-477)GCG>TCG	p.A159S	MED15_uc002zsn.1_Missense_Mutation_p.A78S|MED15_uc002zso.2_Missense_Mutation_p.A88S|MED15_uc002zsq.2_Missense_Mutation_p.A159S|MED15_uc010gso.2_Missense_Mutation_p.A159S|MED15_uc002zsr.2_Missense_Mutation_p.A133S|MED15_uc011ahs.1_Missense_Mutation_p.A133S|MED15_uc011aht.1_Missense_Mutation_p.A133S|MED15_uc002zss.2_Missense_Mutation_p.A78S|MED15_uc011ahu.1_5'Flank	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	mediator complex subunit 15 isoform a	159					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			skin(1)	1	all_cancers(11;2.07e-24)|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)|Epithelial(17;0.209)													OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
AIFM3	150209	broad.mit.edu	37	22	21329105	21329105	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:21329105G>T	uc002ztj.2	+	8	938	c.720G>T	c.(718-720)AAG>AAT	p.K240N	AIFM3_uc002ztk.2_Missense_Mutation_p.K240N|AIFM3_uc002ztl.2_Missense_Mutation_p.K246N|AIFM3_uc011ahx.1_Missense_Mutation_p.K228N|AIFM3_uc002ztm.1_Missense_Mutation_p.K52N	NM_144704	NP_653305	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor,	240		FAD (Potential).			activation of caspase activity by cytochrome c|cell redox homeostasis|electron transport chain|induction of apoptosis|mitochondrial depolarization|transport	endoplasmic reticulum|mitochondrial inner membrane	2 iron, 2 sulfur cluster binding|caspase activator activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity|protein binding			ovary(2)|lung(2)	4	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)															---	---	---	---
TOP3B	8940	broad.mit.edu	37	22	22313552	22313552	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:22313552C>T	uc002zvs.2	-	16	2292	c.1857G>A	c.(1855-1857)AAG>AAA	p.K619K	TOP3B_uc010gtm.1_Silent_p.K164K|TOP3B_uc002zvr.2_Silent_p.K344K|TOP3B_uc010gtl.2_Silent_p.K619K|TOP3B_uc002zvt.3_Silent_p.K619K	NM_003935	NP_003926	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	619					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	23055679	23055679	+	RNA	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:23055679T>C	uc011aim.1	+	153		c.9394T>C								Parts of antibodies, mostly variable regions.												0																		---	---	---	---
LRP5L	91355	broad.mit.edu	37	22	25756037	25756037	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:25756037G>A	uc003abs.2	-	1	2488	c.23C>T	c.(22-24)ACG>ATG	p.T8M	LRP5L_uc011ajz.1_Missense_Mutation_p.T8M|LRP5L_uc010guw.1_Missense_Mutation_p.T8M	NM_182492	NP_872298	A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein	8	LDL-receptor class B 1.										0																		---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26423135	26423135	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:26423135C>A	uc003abz.1	+	43	7445	c.7195C>A	c.(7195-7197)CTT>ATT	p.L2399I	MYO18B_uc003aca.1_Missense_Mutation_p.L2280I|MYO18B_uc010guy.1_Missense_Mutation_p.L2281I|MYO18B_uc010guz.1_Missense_Mutation_p.L2279I|MYO18B_uc011aka.1_Missense_Mutation_p.L1553I|MYO18B_uc011akb.1_Missense_Mutation_p.L1912I|MYO18B_uc010gva.1_Missense_Mutation_p.L382I|MYO18B_uc010gvb.1_RNA	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2399						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12																		---	---	---	---
CRYBB1	1414	broad.mit.edu	37	22	27012154	27012154	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:27012154C>T	uc003acy.1	-	2	200	c.130G>A	c.(130-132)GTG>ATG	p.V44M		NM_001887	NP_001878	P53674	CRBB1_HUMAN	crystallin, beta B1	44	N-terminal arm.				visual perception		structural constituent of eye lens			ovary(1)	1																		---	---	---	---
ZNRF3	84133	broad.mit.edu	37	22	29444461	29444461	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:29444461T>C	uc003aeg.2	+	7	862	c.697T>C	c.(697-699)TGT>CGT	p.C233R	ZNRF3_uc003aeh.1_Missense_Mutation_p.C233R	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	333	RING-type; atypical.|Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1																		---	---	---	---
OSBP2	23762	broad.mit.edu	37	22	31285560	31285560	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31285560C>T	uc003aiy.1	+	7	1664	c.1560C>T	c.(1558-1560)AGC>AGT	p.S520S	OSBP2_uc011ala.1_Silent_p.S354S|OSBP2_uc010gwc.1_Silent_p.S347S|OSBP2_uc011alb.1_Intron|OSBP2_uc003aiz.1_Silent_p.S519S|OSBP2_uc003aja.1_Silent_p.S153S|OSBP2_uc011alc.1_Silent_p.S262S|OSBP2_uc003ajb.2_Silent_p.S65S|OSBP2_uc011ald.1_Silent_p.S64S|OSBP2_uc010gwd.1_Silent_p.S65S	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2 isoform a	520					lipid transport	membrane	lipid binding			breast(1)|skin(1)	2																		---	---	---	---
OSBP2	23762	broad.mit.edu	37	22	31302253	31302253	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31302253C>T	uc003aiy.1	+	14	2782	c.2678C>T	c.(2677-2679)GCC>GTC	p.A893V	OSBP2_uc011ala.1_Missense_Mutation_p.A727V|OSBP2_uc010gwc.1_Missense_Mutation_p.A720V|OSBP2_uc011alb.1_3'UTR|OSBP2_uc003aiz.1_Missense_Mutation_p.A892V|OSBP2_uc003aja.1_Missense_Mutation_p.A526V|OSBP2_uc011alc.1_Missense_Mutation_p.A636V|OSBP2_uc003ajb.2_Missense_Mutation_p.A438V|OSBP2_uc011ald.1_Missense_Mutation_p.A437V|OSBP2_uc010gwd.1_3'UTR	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2 isoform a	893					lipid transport	membrane	lipid binding			breast(1)|skin(1)	2																		---	---	---	---
SMTN	6525	broad.mit.edu	37	22	31495154	31495154	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31495154C>T	uc003ajl.1	+	18	2658	c.2440C>T	c.(2440-2442)CGC>TGC	p.R814C	SMTN_uc003ajk.1_Missense_Mutation_p.R814C|SMTN_uc003ajm.1_Missense_Mutation_p.R814C|SMTN_uc011ale.1_Missense_Mutation_p.R899C|SMTN_uc011alf.1_Missense_Mutation_p.R870C|SMTN_uc003ajn.1_Missense_Mutation_p.R837C|SMTN_uc011alg.1_Missense_Mutation_p.R270C|SMTN_uc003ajo.1_Missense_Mutation_p.R337C|SMTN_uc010gwe.1_Missense_Mutation_p.R194C|SMTN_uc003ajp.1_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	smoothelin isoform c	814	CH.				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			large_intestine(2)|pancreas(1)	3																		---	---	---	---
DEPDC5	9681	broad.mit.edu	37	22	32302315	32302315	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32302315G>A	uc003als.2	+	42	4693	c.4551G>A	c.(4549-4551)TGG>TGA	p.W1517*	DEPDC5_uc011als.1_Nonsense_Mutation_p.W1448*|DEPDC5_uc011alu.1_Nonsense_Mutation_p.W1548*|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Nonsense_Mutation_p.W1539*|DEPDC5_uc003alu.2_Nonsense_Mutation_p.W966*|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Nonsense_Mutation_p.W815*|DEPDC5_uc011alx.1_Nonsense_Mutation_p.W365*|DEPDC5_uc010gwk.2_Missense_Mutation_p.G553S|DEPDC5_uc011aly.1_Nonsense_Mutation_p.W365*	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	1517					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8																		---	---	---	---
RFPL2	10739	broad.mit.edu	37	22	32587176	32587176	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32587176G>A	uc003amg.3	-	5	1656	c.720C>T	c.(718-720)CGC>CGT	p.R240R	RFPL2_uc003ame.3_Silent_p.R179R|RFPL2_uc003amf.3_Silent_p.R150R|RFPL2_uc003amh.3_Silent_p.R150R	NM_001098527	NP_001091997	O75678	RFPL2_HUMAN	ret finger protein-like 2 isoform 2	240	B30.2/SPRY.						zinc ion binding			skin(1)	1																		---	---	---	---
HMOX1	3162	broad.mit.edu	37	22	35783002	35783002	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:35783002C>T	uc003ant.1	+	3	549	c.469C>T	c.(469-471)CTG>TTG	p.L157L		NM_002133	NP_002124	P09601	HMOX1_HUMAN	heme oxygenase (decyclizing) 1	157					angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity			ovary(1)	1					NADH(DB00157)													---	---	---	---
CYTH4	27128	broad.mit.edu	37	22	37693679	37693679	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37693679C>T	uc003arf.2	+	5	425	c.309C>T	c.(307-309)GGC>GGT	p.G103G	CYTH4_uc003ard.3_Silent_p.G103G|CYTH4_uc003are.2_Silent_p.G103G|CYTH4_uc011amw.1_Silent_p.G46G|CYTH4_uc010gxe.2_Intron	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	cytohesin 4	103	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2																		---	---	---	---
LGALS2	3957	broad.mit.edu	37	22	37966699	37966699	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37966699G>A	uc003ata.2	-	3	245	c.133C>T	c.(133-135)CAT>TAT	p.H45Y		NM_006498	NP_006489	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	45	Galectin.									breast(1)|skin(1)	2	Melanoma(58;0.0574)																	---	---	---	---
PDXP	57026	broad.mit.edu	37	22	38055298	38055298	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38055298A>C	uc003atm.1	+	1	562	c.509A>C	c.(508-510)GAG>GCG	p.E170A	SH3BP1_uc003atj.1_Intron|uc003atl.1_5'Flank	NM_020315	NP_064711	Q96GD0	PLPP_HUMAN	pyridoxal phosphatase	170					actin rod assembly|cellular response to ATP|positive regulation of actin filament depolymerization|protein dephosphorylation|regulation of cytokinesis|regulation of mitosis	cytosol	heat shock protein binding|metal ion binding|phosphoprotein phosphatase activity|pyridoxal phosphatase activity			ovary(2)	2	Melanoma(58;0.0574)				Pyridoxal(DB00147)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)													---	---	---	---
TMEM184B	25829	broad.mit.edu	37	22	38620838	38620838	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38620838G>A	uc003avf.1	-	8	1160	c.936C>T	c.(934-936)CAC>CAT	p.H312H	TMEM184B_uc003avg.1_Silent_p.H312H|TMEM184B_uc003avh.1_Silent_p.H246H	NM_012264	NP_036396	Q9Y519	T184B_HUMAN	transmembrane protein 184B	312						integral to membrane					0	Melanoma(58;0.045)																	---	---	---	---
CSNK1E	1454	broad.mit.edu	37	22	38689287	38689287	+	3'UTR	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38689287C>A	uc003avj.2	-	10					CSNK1E_uc003avk.2_3'UTR|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_3'UTR|CSNK1E_uc003avn.1_3'UTR|CSNK1E_uc003avo.2_3'UTR	NM_152221	NP_689407			casein kinase 1 epsilon						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)																	---	---	---	---
SGSM3	27352	broad.mit.edu	37	22	40801671	40801671	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40801671C>T	uc003ayu.1	+	8	846	c.637C>T	c.(637-639)CTG>TTG	p.L213L	SGSM3_uc010gyc.1_Silent_p.L213L|SGSM3_uc011aos.1_Silent_p.L146L|SGSM3_uc011aot.1_Silent_p.L150L|SGSM3_uc010gyd.1_Silent_p.L213L	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	213	Rab-GAP TBC.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			ovary(2)	2																		---	---	---	---
EP300	2033	broad.mit.edu	37	22	41533773	41533773	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41533773G>A	uc003azl.3	+	8	2134	c.1739G>A	c.(1738-1740)CGA>CAA	p.R580Q		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	580	KIX.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.R580*(1)		haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64								T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				---	---	---	---
EP300	2033	broad.mit.edu	37	22	41545050	41545050	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41545050C>T	uc003azl.3	+	13	2645	c.2250C>T	c.(2248-2250)GGC>GGT	p.G750G		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	750					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64								T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				---	---	---	---
SCUBE1	80274	broad.mit.edu	37	22	43735227	43735227	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:43735227C>T	uc003bdt.1	-	2	191	c.103G>A	c.(103-105)GAT>AAT	p.D35N	SCUBE1_uc003bdu.1_Missense_Mutation_p.D35N	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	35	EGF-like 1; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)																---	---	---	---
EFCAB6	64800	broad.mit.edu	37	22	43926830	43926830	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:43926830C>T	uc003bdy.1	-	31	4463	c.4248G>A	c.(4246-4248)GCG>GCA	p.A1416A	EFCAB6_uc003bdz.1_Silent_p.A1264A|EFCAB6_uc010gzi.1_Silent_p.A1264A	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1416	Interaction with AR.|Interaction with PARK7.				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	44392209	44392209	+	Intron	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:44392209T>C	uc003bej.2	+						PARVB_uc003bem.2_5'Flank|SAMM50_uc011aqd.1_Intron|SAMM50_uc003bek.2_Intron	NM_015380	NP_056195			sorting and assembly machinery component 50						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)																---	---	---	---
FBLN1	2192	broad.mit.edu	37	22	45923855	45923855	+	Silent	SNP	C	T	T	rs141549958		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:45923855C>T	uc003bgj.1	+	4	597	c.450C>T	c.(448-450)ACC>ACT	p.T150T	FBLN1_uc003bgg.1_Silent_p.T150T|FBLN1_uc003bgh.2_Silent_p.T150T|FBLN1_uc010gzz.2_Silent_p.T188T|FBLN1_uc003bgi.1_Silent_p.T150T	NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	150					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)														---	---	---	---
TTC38	55020	broad.mit.edu	37	22	46679905	46679905	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46679905C>A	uc003bhi.2	+	8	847	c.771C>A	c.(769-771)CAC>CAA	p.H257Q	TTC38_uc011aqx.1_Missense_Mutation_p.H199Q	NM_017931	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	257	TPR 3.						binding			ovary(1)	1																		---	---	---	---
PPP2R3B	28227	broad.mit.edu	37	X	322220	322220	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:322220C>T	uc004cpg.2	-	2	631	c.430G>A	c.(430-432)GTC>ATC	p.V144I	PPP2R3B_uc011mha.1_5'UTR	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	144					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	1413263	1413263	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1413263C>T	uc010nct.2	+	9	1011	c.689C>T	c.(688-690)ACG>ATG	p.T230M	CSF2RA_uc011mhb.1_Missense_Mutation_p.T230M|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Missense_Mutation_p.T230M|CSF2RA_uc004cpo.2_Missense_Mutation_p.T230M|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Missense_Mutation_p.T97M|CSF2RA_uc004cpp.2_Missense_Mutation_p.T230M|CSF2RA_uc010ncv.2_Missense_Mutation_p.T230M|CSF2RA_uc004cpr.2_Missense_Mutation_p.T230M	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor alpha chain	230	Extracellular (Potential).					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)													---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3228137	3228137	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:3228137C>T	uc004crg.3	-	7	8264	c.8107G>A	c.(8107-8109)GTG>ATG	p.V2703M		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2703	Ig-like C2-type 11.					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	3242753	3242753	+	Missense_Mutation	SNP	C	T	T	rs148104868		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:3242753C>T	uc004crg.3	-	5	1130	c.973G>A	c.(973-975)GAG>AAG	p.E325K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	325						extracellular region		p.E325D(1)		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	6069136	6069136	+	Silent	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:6069136C>A	uc010ndh.2	-	2	873	c.372G>T	c.(370-372)CTG>CTT	p.L124L	NLGN4X_uc004crp.2_Silent_p.L124L|NLGN4X_uc004crq.2_Silent_p.L124L|NLGN4X_uc010ndi.2_Silent_p.L124L|NLGN4X_uc004crr.2_Silent_p.L124L|NLGN4X_uc010ndj.2_Silent_p.L124L	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	124	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																		---	---	---	---
KAL1	3730	broad.mit.edu	37	X	8522076	8522076	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:8522076C>T	uc004csf.2	-	9	1421	c.1271G>A	c.(1270-1272)CGA>CAA	p.R424Q		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	424					axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4																		---	---	---	---
BEND2	139105	broad.mit.edu	37	X	18189251	18189251	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18189251G>A	uc004cyj.3	-	13	2209	c.2055C>T	c.(2053-2055)TGC>TGT	p.C685C	BEND2_uc010nfb.2_Silent_p.C594C	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	685	BEN 2.									ovary(3)|kidney(1)|central_nervous_system(1)	5																		---	---	---	---
PPEF1	5475	broad.mit.edu	37	X	18797182	18797182	+	Silent	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18797182C>A	uc004cyq.2	+	10	1094	c.613C>A	c.(613-615)CGA>AGA	p.R205R	PPEF1_uc004cyp.2_Silent_p.R205R|PPEF1_uc004cyr.2_Silent_p.R205R|PPEF1_uc004cys.2_Silent_p.R205R|PPEF1_uc011mja.1_Silent_p.R140R|PPEF1_uc011mjb.1_Silent_p.R149R	NM_006240	NP_006231	O14829	PPE1_HUMAN	protein phosphatase with EF hand calcium-binding	205	Catalytic.				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)																	---	---	---	---
KLHL34	257240	broad.mit.edu	37	X	21674964	21674964	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:21674964C>T	uc004czz.1	-	1	1485	c.943G>A	c.(943-945)GAG>AAG	p.E315K		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	kelch-like 34	315	Glu-rich.									ovary(1)	1																		---	---	---	---
YY2	404281	broad.mit.edu	37	X	21863512	21863512	+	Intron	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:21863512G>A	uc010nfq.2	+						MBTPS2_uc004dae.2_Intron|MBTPS2_uc004dab.2_Intron	NM_206923	NP_996806			YY2 transcription factor						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(1)|skin(1)	2																		---	---	---	---
ZNF645	158506	broad.mit.edu	37	X	22291233	22291233	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:22291233A>G	uc004dai.1	+	1	174	c.125A>G	c.(124-126)AAG>AGG	p.K42R		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	42						intracellular	zinc ion binding			lung(1)|pancreas(1)	2																		---	---	---	---
DMD	1756	broad.mit.edu	37	X	32486747	32486747	+	Silent	SNP	C	T	T	rs72468666		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:32486747C>T	uc004dda.1	-	23	3274	c.3030G>A	c.(3028-3030)GCG>GCA	p.A1010A	DMD_uc004dcz.2_Silent_p.A887A|DMD_uc004dcy.1_Silent_p.A1006A|DMD_uc004ddb.1_Silent_p.A1002A|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1010	Spectrin 6.				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)																---	---	---	---
DDX3X	1654	broad.mit.edu	37	X	41203054	41203054	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:41203054C>T	uc004dfe.2	+	8	1599	c.744C>T	c.(742-744)GGC>GGT	p.G248G	DDX3X_uc010nhf.1_Silent_p.G232G|DDX3X_uc004dff.2_Silent_p.G248G|DDX3X_uc011mkq.1_Silent_p.G232G|DDX3X_uc011mkr.1_Silent_p.G248G|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_Intron	NM_001356	NP_001347	O00571	DDX3X_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3	248	Helicase ATP-binding.				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)			---	---	---	---
OTUD5	55593	broad.mit.edu	37	X	48781133	48781133	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48781133G>A	uc004dlu.2	-	7	1536	c.1475C>T	c.(1474-1476)GCG>GTG	p.A492V	OTUD5_uc004dlt.3_Missense_Mutation_p.A487V|OTUD5_uc004dlv.2_Missense_Mutation_p.A487V|OTUD5_uc011mmp.1_Missense_Mutation_p.A270V	NM_017602	NP_060072	Q96G74	OTUD5_HUMAN	OTU domain containing 5 isoform a	492					negative regulation of type I interferon production		cysteine-type peptidase activity			pancreas(1)	1																		---	---	---	---
TFE3	7030	broad.mit.edu	37	X	48887806	48887806	+	Missense_Mutation	SNP	C	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48887806C>G	uc004dmb.3	-	10	1829	c.1591G>C	c.(1591-1593)GGG>CGG	p.G531R	TFE3_uc004dmc.3_Missense_Mutation_p.G426R	NM_006521	NP_006512	P19532	TFE3_HUMAN	transcription factor E3	531					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2)	soft_tissue(120)|kidney(76)|central_nervous_system(1)	197								T	SFPQ|ASPSCR1|PRCC|NONO|CLTC	papillary renal|alveolar soft part sarcoma|renal								---	---	---	---
PPP1R3F	89801	broad.mit.edu	37	X	49127204	49127204	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49127204C>T	uc004dnh.1	+	1	888	c.872C>T	c.(871-873)CCC>CTC	p.P291L	PPP1R3F_uc011mnd.1_5'UTR|PPP1R3F_uc004dni.2_Intron	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory (inhibitor)	291	Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	Ovarian(276;0.236)																	---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53574996	53574996	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53574996C>T	uc004dsp.2	-	68	10676	c.10274G>A	c.(10273-10275)AGC>AAC	p.S3425N	HUWE1_uc004dsn.2_Missense_Mutation_p.S2233N	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	3425					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																		---	---	---	---
FAM120C	54954	broad.mit.edu	37	X	54107839	54107839	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54107839A>G	uc004dsz.3	-	14	2977	c.2894T>C	c.(2893-2895)GTG>GCG	p.V965A	FAM120C_uc011moh.1_Missense_Mutation_p.W828R	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	hypothetical protein LOC54954	965										ovary(1)|central_nervous_system(1)	2																		---	---	---	---
TSR2	90121	broad.mit.edu	37	X	54470537	54470537	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54470537A>T	uc004dte.2	+	4	363	c.361A>T	c.(361-363)AAG>TAG	p.K121*	TSR2_uc004dtf.2_Nonsense_Mutation_p.K26*	NM_058163	NP_477511	Q969E8	TSR2_HUMAN	TSR2, 20S rRNA accumulation, homolog	121					rRNA processing		protein binding				0																		---	---	---	---
ITIH5L	347365	broad.mit.edu	37	X	54815025	54815025	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54815025A>T	uc004dtj.2	-	5	704	c.674T>A	c.(673-675)ATC>AAC	p.I225N		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	225					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6																		---	---	---	---
ALAS2	212	broad.mit.edu	37	X	55047483	55047483	+	Splice_Site	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:55047483A>G	uc004dua.3	-	5	776	c.638_splice	c.e5+1	p.Q213_splice	ALAS2_uc004dub.3_Splice_Site_p.Q200_splice|ALAS2_uc004dud.3_Splice_Site_p.Q176_splice	NM_000032	NP_000023			5-aminolevulinate synthase 2 isoform a						cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(1)	1					Glycine(DB00145)													---	---	---	---
RRAGB	10325	broad.mit.edu	37	X	55757850	55757850	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:55757850G>T	uc004dup.2	+	6	1082	c.431G>T	c.(430-432)CGA>CTA	p.R144L	RRAGB_uc004duq.2_Missense_Mutation_p.R116L	NM_016656	NP_057740	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B long isoform	144					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding				0																		---	---	---	---
ZXDA	7789	broad.mit.edu	37	X	57936033	57936033	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:57936033G>A	uc004dve.2	-	1	1035	c.822C>T	c.(820-822)TGC>TGT	p.C274C		NM_007156	NP_009087	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	274	C2H2-type 1.|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																		---	---	---	---
MTMR8	55613	broad.mit.edu	37	X	63579408	63579408	+	Splice_Site	SNP	C	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:63579408C>G	uc004dvs.2	-	2	93	c.25_splice	c.e2-1	p.V9_splice	MTMR8_uc011mou.1_Splice_Site_p.V9_splice|MTMR8_uc004dvt.1_Splice_Site_p.V9_splice	NM_017677	NP_060147			myotubularin related protein 8							nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4																		---	---	---	---
AR	367	broad.mit.edu	37	X	66765161	66765161	+	Missense_Mutation	SNP	A	T	T	rs5902610		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:66765161A>T	uc004dwu.1	+	1	1288	c.173A>T	c.(172-174)CAG>CTG	p.Q58L	AR_uc011mpd.1_Missense_Mutation_p.Q58L|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.Q58L	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	58	Modulating.|Poly-Gln.|Gln-rich.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)									Androgen_Insensitivity_Syndrome				---	---	---	---
OPHN1	4983	broad.mit.edu	37	X	67430049	67430049	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:67430049A>G	uc004dww.3	-	9	1072	c.778T>C	c.(778-780)TGC>CGC	p.C260R	OPHN1_uc011mpg.1_Missense_Mutation_p.C260R|OPHN1_uc004dwx.2_Missense_Mutation_p.C260R	NM_002547	NP_002538	O60890	OPHN1_HUMAN	oligophrenin 1	260					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																		---	---	---	---
IGBP1	3476	broad.mit.edu	37	X	69354476	69354476	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:69354476C>T	uc004dxv.2	+	2	791	c.292C>T	c.(292-294)CGT>TGT	p.R98C	IGBP1_uc004dxw.2_Missense_Mutation_p.R98C	NM_001551	NP_001542	P78318	IGBP1_HUMAN	immunoglobulin binding protein 1	98					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(1)|pancreas(1)	2																		---	---	---	---
ZDHHC15	158866	broad.mit.edu	37	X	74641702	74641702	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:74641702G>T	uc004ecg.2	-	9	1338	c.860C>A	c.(859-861)TCC>TAC	p.S287Y	ZDHHC15_uc004ech.2_Missense_Mutation_p.S278Y|ZDHHC15_uc011mqo.1_RNA	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15 isoform 1	287						integral to membrane	zinc ion binding			ovary(2)	2																		---	---	---	---
ATRX	546	broad.mit.edu	37	X	76938509	76938509	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:76938509T>C	uc004ecp.3	-	9	2471	c.2239A>G	c.(2239-2241)AGT>GGT	p.S747G	ATRX_uc004ecq.3_Missense_Mutation_p.S709G|ATRX_uc004eco.3_Missense_Mutation_p.S532G|ATRX_uc004ecr.2_Missense_Mutation_p.S679G|ATRX_uc010nlx.1_Missense_Mutation_p.S718G|ATRX_uc010nly.1_Missense_Mutation_p.S692G	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	747	Poly-Ser.				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						---	---	---	---
PCDH19	57526	broad.mit.edu	37	X	99551740	99551740	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:99551740A>G	uc010nmz.2	-	6	4658	c.2982T>C	c.(2980-2982)TCT>TCC	p.S994S	PCDH19_uc004efw.3_Silent_p.S946S|PCDH19_uc004efx.3_Silent_p.S947S	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	994	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	99662844	99662844	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:99662844G>T	uc010nmz.2	-	1	2428	c.752C>A	c.(751-753)TCG>TAG	p.S251*	PCDH19_uc004efw.3_Nonsense_Mutation_p.S251*|PCDH19_uc004efx.3_Nonsense_Mutation_p.S251*	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	251	Cadherin 3.|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																		---	---	---	---
CSTF2	1478	broad.mit.edu	37	X	100078882	100078882	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100078882T>C	uc004egh.2	+	5	510	c.452T>C	c.(451-453)GTC>GCC	p.V151A	CSTF2_uc010nnd.2_Missense_Mutation_p.V151A|CSTF2_uc004egi.2_Missense_Mutation_p.V151A	NM_001325	NP_001316	P33240	CSTF2_HUMAN	cleavage stimulation factor subunit 2	151	Interactions with CSTF3 and SYMPK.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|protein binding|RNA binding			skin(1)	1																		---	---	---	---
DRP2	1821	broad.mit.edu	37	X	100515504	100515504	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100515504G>A	uc004egz.2	+	24	3137	c.2768G>A	c.(2767-2769)AGC>AAC	p.S923N	DRP2_uc011mrh.1_Missense_Mutation_p.S845N	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	923					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2																		---	---	---	---
NXF2B	728343	broad.mit.edu	37	X	101623733	101623733	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:101623733T>G	uc004ejb.3	-	19	2501	c.629A>C	c.(628-630)AAG>ACG	p.K210T	NXF2B_uc004eiz.3_Missense_Mutation_p.K122T|NXF2B_uc004eja.3_Missense_Mutation_p.K210T|NXF2_uc004eiy.3_Missense_Mutation_p.K210T	NM_001099686	NP_001093156	Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2B	210					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|RNA binding			ovary(1)	1																		---	---	---	---
GPRASP2	114928	broad.mit.edu	37	X	101969892	101969892	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:101969892T>C	uc004ejk.2	+	4	1429	c.95T>C	c.(94-96)GTC>GCC	p.V32A	GPRASP2_uc004ejl.2_Missense_Mutation_p.V32A|GPRASP2_uc004ejm.2_Missense_Mutation_p.V32A|GPRASP2_uc011mrp.1_5'Flank	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	32						cytoplasm	protein binding			ovary(1)	1																		---	---	---	---
NRK	203447	broad.mit.edu	37	X	105178281	105178281	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:105178281C>T	uc004emd.2	+	20	3647	c.3344C>T	c.(3343-3345)GCC>GTC	p.A1115V	NRK_uc010npc.1_Missense_Mutation_p.A783V	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1115							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14															HNSCC(51;0.14)			---	---	---	---
NRK	203447	broad.mit.edu	37	X	105179301	105179301	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:105179301C>T	uc004emd.2	+	21	3942	c.3639C>T	c.(3637-3639)TGC>TGT	p.C1213C	NRK_uc010npc.1_Silent_p.C881C	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1213	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14															HNSCC(51;0.14)			---	---	---	---
MUM1L1	139221	broad.mit.edu	37	X	105451074	105451074	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:105451074A>G	uc004emf.1	+	4	2298	c.1649A>G	c.(1648-1650)GAC>GGC	p.D550G	MUM1L1_uc004emg.1_Missense_Mutation_p.D550G	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	550										ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
TBC1D8B	54885	broad.mit.edu	37	X	106070528	106070528	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:106070528C>T	uc004emo.2	+	7	1329	c.1164C>T	c.(1162-1164)TGC>TGT	p.C388C	MORC4_uc004emp.3_Intron|TBC1D8B_uc004emm.2_Silent_p.C388C|TBC1D8B_uc004emn.2_Silent_p.C388C	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	388						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
MORC4	79710	broad.mit.edu	37	X	106236537	106236537	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:106236537C>A	uc004emu.3	-	3	474	c.231G>T	c.(229-231)GAG>GAT	p.E77D	MORC4_uc004emp.3_Translation_Start_Site|MORC4_uc004emv.3_Missense_Mutation_p.E77D|MORC4_uc004emw.3_Translation_Start_Site	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	zinc finger, CW type with coiled-coil domain 2	77							ATP binding|zinc ion binding			ovary(1)	1																		---	---	---	---
COL4A6	1288	broad.mit.edu	37	X	107448667	107448667	+	Splice_Site	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:107448667A>G	uc004enw.3	-	11	793	c.690_splice	c.e11+1	p.K230_splice	COL4A6_uc004env.3_Splice_Site_p.K229_splice|COL4A6_uc011msn.1_Splice_Site_p.K229_splice|COL4A6_uc010npk.2_Splice_Site_p.K229_splice	NM_001847	NP_001838			type IV alpha 6 collagen isoform A precursor						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				---	---	---	---
CAPN6	827	broad.mit.edu	37	X	110494317	110494317	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:110494317T>G	uc004epc.1	-	8	1154	c.986A>C	c.(985-987)GAC>GCC	p.D329A	CAPN6_uc011msu.1_Missense_Mutation_p.D74A	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	calpain 6	329	Calpain catalytic.				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																		---	---	---	---
ALG13	79868	broad.mit.edu	37	X	111002996	111002996	+	Silent	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:111002996T>G	uc011msy.1	+	27	3217	c.3183T>G	c.(3181-3183)CCT>CCG	p.P1061P	ALG13_uc011msx.1_Silent_p.P878P|ALG13_uc011msz.1_Silent_p.P983P|ALG13_uc011mta.1_Silent_p.P878P|ALG13_uc011mtb.1_Silent_p.P878P			Q9NP73	ALG13_HUMAN	SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);	1061					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																		---	---	---	---
CXorf56	63932	broad.mit.edu	37	X	118694234	118694234	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:118694234C>T	uc004erk.1	-	2	285	c.239G>A	c.(238-240)CGG>CAG	p.R80Q	CXorf56_uc004erj.1_Missense_Mutation_p.R31Q|CXorf56_uc011mtu.1_Missense_Mutation_p.R80Q	NM_022101	NP_071384	Q9H5V9	CX056_HUMAN	hypothetical protein LOC63932	80							protein binding				0																		---	---	---	---
AKAP14	158798	broad.mit.edu	37	X	119048691	119048691	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:119048691T>C	uc004ese.2	+	5	429	c.291T>C	c.(289-291)CAT>CAC	p.H97H	AKAP14_uc004esf.2_Intron	NM_178813	NP_848928	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14 isoform a	97						cytoplasm					0																		---	---	---	---
C1GALT1C1	29071	broad.mit.edu	37	X	119760212	119760212	+	Missense_Mutation	SNP	A	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:119760212A>C	uc004esy.2	-	3	1157	c.810T>G	c.(808-810)TGT>TGG	p.C270W	C1GALT1C1_uc004esz.2_Missense_Mutation_p.C270W	NM_152692	NP_689905	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	270	Lumenal (Potential).					integral to membrane					0																		---	---	---	---
GLUD2	2747	broad.mit.edu	37	X	120182522	120182522	+	Silent	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:120182522T>C	uc004eto.2	+	1	1061	c.984T>C	c.(982-984)ATT>ATC	p.I328I		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	328					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)													---	---	---	---
THOC2	57187	broad.mit.edu	37	X	122747892	122747892	+	Intron	SNP	A	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:122747892A>T	uc004etu.2	-						THOC2_uc010nqt.1_Intron|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																		---	---	---	---
STAG2	10735	broad.mit.edu	37	X	123196831	123196831	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:123196831A>G	uc004etz.3	+	17	2057	c.1718A>G	c.(1717-1719)CAG>CGG	p.Q573R	STAG2_uc004eua.2_Missense_Mutation_p.Q573R|STAG2_uc004eub.2_Missense_Mutation_p.Q573R|STAG2_uc004euc.2_Missense_Mutation_p.Q573R|STAG2_uc004eud.2_Missense_Mutation_p.Q573R|STAG2_uc004eue.2_Missense_Mutation_p.Q573R	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	573					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5																		---	---	---	---
STAG2	10735	broad.mit.edu	37	X	123217382	123217382	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:123217382A>G	uc004etz.3	+	28	3375	c.3036A>G	c.(3034-3036)CGA>CGG	p.R1012R	STAG2_uc004eua.2_Silent_p.R1012R|STAG2_uc004eub.2_Silent_p.R1012R|STAG2_uc004euc.2_Silent_p.R1012R|STAG2_uc004eud.2_Silent_p.R1012R|STAG2_uc004eue.2_Silent_p.R1012R	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	1012					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5																		---	---	---	---
ODZ1	10178	broad.mit.edu	37	X	123775719	123775719	+	Missense_Mutation	SNP	A	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:123775719A>T	uc004euj.2	-	11	2063	c.1999T>A	c.(1999-2001)TCA>ACA	p.S667T	ODZ1_uc011muj.1_Missense_Mutation_p.S666T|ODZ1_uc010nqy.2_Missense_Mutation_p.S667T	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	667	EGF-like 5.|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	123775729	123775729	+	Missense_Mutation	SNP	T	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:123775729T>G	uc004euj.2	-	11	2053	c.1989A>C	c.(1987-1989)CAA>CAC	p.Q663H	ODZ1_uc011muj.1_Missense_Mutation_p.Q662H|ODZ1_uc010nqy.2_Missense_Mutation_p.Q663H	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	663	EGF-like 5.|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																		---	---	---	---
ZDHHC9	51114	broad.mit.edu	37	X	128944952	128944952	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:128944952G>A	uc004euv.2	-	9	1276	c.907C>T	c.(907-909)CCA>TCA	p.P303S	ZDHHC9_uc004euw.2_Missense_Mutation_p.P303S	NM_001008222	NP_001008223	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC domain containing 9	303	Cytoplasmic (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)	1																		---	---	---	---
ZNF280C	55609	broad.mit.edu	37	X	129380885	129380885	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129380885G>A	uc004evm.2	-	3	280	c.126C>T	c.(124-126)GAC>GAT	p.D42D	ZNF280C_uc010nrf.1_Silent_p.D42D	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	42					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)	3																		---	---	---	---
DDX26B	203522	broad.mit.edu	37	X	134703344	134703344	+	Silent	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:134703344A>G	uc004eyw.3	+	10	1638	c.1275A>G	c.(1273-1275)CCA>CCG	p.P425P	DDX26B_uc004eyx.3_5'UTR	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	425											0	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MAP7D3	79649	broad.mit.edu	37	X	135314039	135314039	+	Silent	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135314039G>A	uc004ezt.2	-	8	1168	c.1077C>T	c.(1075-1077)GAC>GAT	p.D359D	MAP7D3_uc004ezs.2_Silent_p.D323D|MAP7D3_uc011mwc.1_Silent_p.D341D|MAP7D3_uc010nsa.1_Silent_p.D317D	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	359						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
FGF13	2258	broad.mit.edu	37	X	137715071	137715071	+	Missense_Mutation	SNP	G	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:137715071G>T	uc004fam.2	-	5	1340	c.678C>A	c.(676-678)AGC>AGA	p.S226R	FGF13_uc004fan.2_Missense_Mutation_p.S173R|FGF13_uc011mwi.1_Missense_Mutation_p.S207R|FGF13_uc004faq.2_Missense_Mutation_p.S236R|FGF13_uc004far.2_Missense_Mutation_p.S207R|FGF13_uc011mwj.1_Missense_Mutation_p.S236R|FGF13_uc011mwk.1_Missense_Mutation_p.S180R	NM_004114	NP_004105	Q92913	FGF13_HUMAN	fibroblast growth factor 13 isoform 1	226					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
SOX3	6658	broad.mit.edu	37	X	139586596	139586596	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:139586596C>T	uc004fbd.1	-	1	630	c.630G>A	c.(628-630)CCG>CCA	p.P210P		NM_005634	NP_005625	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	210					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)																	---	---	---	---
MAGEC3	139081	broad.mit.edu	37	X	140953283	140953283	+	Missense_Mutation	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:140953283C>A	uc011mwp.1	+	2	150	c.150C>A	c.(148-150)GAC>GAA	p.D50E		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	50								p.D50N(1)		skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MAGEA3	4102	broad.mit.edu	37	X	151935622	151935622	+	Missense_Mutation	SNP	A	G	G			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:151935622A>G	uc004fgp.2	-	3	754	c.545T>C	c.(544-546)CTG>CCG	p.L182P		NM_005362	NP_005353	P43357	MAGA3_HUMAN	melanoma antigen family A, 3	182	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
NSDHL	50814	broad.mit.edu	37	X	152018835	152018835	+	Silent	SNP	C	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152018835C>A	uc004fgt.1	+	4	396	c.135C>A	c.(133-135)GGC>GGA	p.G45G	NSDHL_uc004fgs.1_Silent_p.G45G	NM_001129765	NP_001123237	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	45					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)													---	---	---	---
ZNF275	10838	broad.mit.edu	37	X	152612686	152612686	+	Silent	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152612686C>T	uc004fhg.1	+	4	720	c.543C>T	c.(541-543)TTC>TTT	p.F181F	ZNF275_uc011mym.1_Silent_p.F181F|ZNF275_uc011myn.1_Silent_p.F118F			A6NFS0	A6NFS0_HUMAN	SubName: Full=cDNA FLJ16723 fis, clone UTERU3004418, highly similar to Zinc finger protein 275; SubName: Full=Putative uncharacterized protein ZNF275;	181						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
BGN	633	broad.mit.edu	37	X	152770093	152770093	+	Missense_Mutation	SNP	T	C	C			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152770093T>C	uc004fhr.1	+	2	176	c.4T>C	c.(4-6)TGG>CGG	p.W2R	BGN_uc004fhq.1_RNA	NM_001711	NP_001702	P21810	PGS1_HUMAN	biglycan preproprotein	2						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)	2	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
PDZD4	57595	broad.mit.edu	37	X	153073995	153073995	+	Missense_Mutation	SNP	C	T	T			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153073995C>T	uc004fiz.1	-	2	366	c.116G>A	c.(115-117)CGC>CAC	p.R39H	PDZD4_uc004fiy.1_5'UTR|PDZD4_uc004fix.2_5'UTR|PDZD4_uc004fja.1_Missense_Mutation_p.R39H|PDZD4_uc011mze.1_Intron	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	39			R -> C (in a breast cancer sample; somatic mutation).			cell cortex		p.R39C(1)		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)																	---	---	---	---
ARHGAP4	393	broad.mit.edu	37	X	153174968	153174968	+	Silent	SNP	G	A	A	rs61749033	byFrequency	TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153174968G>A	uc004fjk.1	-	20	2478	c.2436C>T	c.(2434-2436)GGC>GGT	p.G812G	ARHGAP4_uc004fjj.1_Silent_p.G163G|ARHGAP4_uc011mzf.1_Silent_p.G789G|ARHGAP4_uc004fjl.1_Silent_p.G852G|ARHGAP4_uc010nup.1_RNA	NM_001666	NP_001657	P98171	RHG04_HUMAN	Rho GTPase activating protein 4 isoform 2	812					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(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)																	---	---	---	---
FLNA	2316	broad.mit.edu	37	X	153596212	153596212	+	Missense_Mutation	SNP	G	A	A	rs28935469		TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153596212G>A	uc004fkk.2	-	3	869	c.620C>T	c.(619-621)CCG>CTG	p.P207L	FLNA_uc010nuu.1_Missense_Mutation_p.P207L	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	207	CH 2.|Actin-binding.				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)																	---	---	---	---
TAZ	6901	broad.mit.edu	37	X	153640245	153640245	+	Missense_Mutation	SNP	G	A	A			TCGA-BR-6852-01	TCGA-BR-6852-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153640245G>A	uc004fkx.2	+	1	369	c.65G>A	c.(64-66)AGC>AAC	p.S22N	DNASE1L1_uc004fks.1_5'Flank|DNASE1L1_uc004fkt.1_5'Flank|DNASE1L1_uc004fku.1_5'UTR|DNASE1L1_uc004fkv.1_5'UTR|DNASE1L1_uc004fkw.1_5'UTR|TAZ_uc004fky.2_Missense_Mutation_p.S22N|TAZ_uc004fkz.2_RNA|TAZ_uc004fla.2_Missense_Mutation_p.S22N|TAZ_uc004flb.2_Missense_Mutation_p.S22N|TAZ_uc010nuy.2_Missense_Mutation_p.S22N|TAZ_uc004flc.3_Missense_Mutation_p.S22N	NM_000116	NP_000107	Q16635	TAZ_HUMAN	tafazzin isoform 1	22	Helical; Signal-anchor; (Potential).				cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity				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)																	---	---	---	---
