Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values
MXRA8	54587	broad.mit.edu	37	1	1290109	1290109	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:1290109C>T	uc001aew.2	-	5	933	c.902G>A	c.(901-903)CGG>CAG	p.R301Q	MXRA8_uc001aex.3_Missense_Mutation_p.R301Q|MXRA8_uc001aey.3_Missense_Mutation_p.R301Q|MXRA8_uc010nyl.1_Missense_Mutation_p.R301Q|MXRA8_uc001aez.2_Missense_Mutation_p.R200Q|MXRA8_uc001afa.2_Missense_Mutation_p.R292Q	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8 precursor	301	Extracellular (Potential).					integral to membrane					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CGGAGAGCCCCGGGGGGGCGG	0.741												
MIB2	142678	broad.mit.edu	37	1	1562227	1562227	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:1562227G>A	uc001agg.2	+	10	1389	c.1262G>A	c.(1261-1263)CGC>CAC	p.R421H	MIB2_uc001agh.2_Missense_Mutation_p.R407H|MIB2_uc001agi.2_Missense_Mutation_p.R417H|MIB2_uc001agj.2_Missense_Mutation_p.R262H|MIB2_uc001agk.2_Missense_Mutation_p.R356H|MIB2_uc001agl.1_Missense_Mutation_p.R377H|MIB2_uc001agm.2_Missense_Mutation_p.R298H|MIB2_uc010nyq.1_Missense_Mutation_p.R377H|MIB2_uc009vkh.2_Missense_Mutation_p.R227H|MIB2_uc001agn.2_Missense_Mutation_p.R53H|MIB2_uc001ago.2_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	mindbomb homolog 2	421					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCCCTGGGCCGCGTCGGGAAG	0.711												
PRKCZ	5590	broad.mit.edu	37	1	2066734	2066734	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:2066734G>T	uc001aiq.2	+	5	529	c.368G>T	c.(367-369)AGG>ATG	p.R123M	PRKCZ_uc001air.2_Translation_Start_Site|PRKCZ_uc010nyw.1_Missense_Mutation_p.R19M|PRKCZ_uc001ais.2_Translation_Start_Site	NM_002744	NP_002735	Q05513	KPCZ_HUMAN	protein kinase C, zeta isoform 1	123	Interaction with SQSTM1 (By similarity).				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			central_nervous_system(4)|large_intestine(2)	6	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		AGAAGATGGAGGAAGCTGTAC	0.562												
NPHP4	261734	broad.mit.edu	37	1	5924015	5924015	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:5924015G>A	uc001alq.1	-	29	4341	c.4075C>T	c.(4075-4077)CGG>TGG	p.R1359W	NPHP4_uc001alr.1_3'UTR	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	1359					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		AATGTCCTCCGGGAGGGGTAG	0.622												
CHD5	26038	broad.mit.edu	37	1	6209393	6209393	+	Silent	SNP	G	G	A	rs147670357		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:6209393G>A	uc001amb.1	-	8	1174	c.1074C>T	c.(1072-1074)TGC>TGT	p.C358C	CHD5_uc001amc.1_5'Flank	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	358	PHD-type 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGCAGGTGTCGCACAGGATGA	0.602												
ZBTB48	3104	broad.mit.edu	37	1	6648463	6648463	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:6648463C>T	uc009vmc.1	+	9	1765	c.1642C>T	c.(1642-1644)CGG>TGG	p.R548W	ZBTB48_uc001anx.2_Missense_Mutation_p.R548W|ZBTB48_uc009vmd.1_Missense_Mutation_p.R548W|ZBTB48_uc001any.1_Missense_Mutation_p.R186W	NM_005341	NP_005332	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	548						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		TCAGGAGGGCCGGCCCCACTT	0.627												
KLHL21	9903	broad.mit.edu	37	1	6662470	6662470	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:6662470G>A	uc001aoa.2	-	1	460	c.408C>T	c.(406-408)GCC>GCT	p.A136A	KLHL21_uc001anz.1_Silent_p.A136A|KLHL21_uc009vme.2_5'Flank	NM_014851	NP_055666	Q9UJP4	KLH21_HUMAN	kelch-like 21	136					anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule				central_nervous_system(1)	1	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		CCAGGCAGTTGGCCAGGTCGA	0.706												
CAMTA1	23261	broad.mit.edu	37	1	7805020	7805020	+	Silent	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:7805020A>G	uc001aoi.2	+	17	4515	c.4308A>G	c.(4306-4308)ACA>ACG	p.T1436T	CAMTA1_uc010nzv.1_Silent_p.T523T|CAMTA1_uc001aok.3_Silent_p.T479T|CAMTA1_uc001aoj.2_Silent_p.T392T|CAMTA1_uc009vmf.2_Silent_p.T40T	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TTAGCAGTACAATGAGCTGGC	0.507												
CLSTN1	22883	broad.mit.edu	37	1	9804579	9804579	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:9804579C>T	uc001aqh.2	-	8	1867	c.1108G>A	c.(1108-1110)GCA>ACA	p.A370T	CLSTN1_uc001aqi.2_Missense_Mutation_p.A360T|CLSTN1_uc010oag.1_Missense_Mutation_p.A370T	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	370	Extracellular (Potential).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			skin(1)	1	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		ATCCTCACTGCCTGGGTGCCG	0.617												
C1orf127	148345	broad.mit.edu	37	1	11008529	11008529	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:11008529T>C	uc010oao.1	-	8	1221	c.1216A>G	c.(1216-1218)AAG>GAG	p.K406E	C1orf127_uc001arr.1_Missense_Mutation_p.K388E|C1orf127_uc001ars.1_Missense_Mutation_p.K380E	NM_173507	NP_775778	B7ZLG7	B7ZLG7_HUMAN	hypothetical protein LOC148345	406										ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCTGGAGACTTGGCGGGGTCC	0.607												
EXOSC10	5394	broad.mit.edu	37	1	11137673	11137673	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:11137673C>T	uc001asa.2	-	15	1835	c.1785G>A	c.(1783-1785)CCG>CCA	p.P595P	EXOSC10_uc001asb.2_Silent_p.P595P	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	exosome component 10 isoform 1	595					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			upper_aerodigestive_tract(1)	1	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		CACTGGGCAGCGGTCCGCTCT	0.537												
MTOR	2475	broad.mit.edu	37	1	11181356	11181356	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:11181356T>C	uc001asd.2	-	49	7001	c.6880A>G	c.(6880-6882)ACA>GCA	p.T2294A	MTOR_uc001asc.2_Missense_Mutation_p.T499A	NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	2294	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						TCCCCAGCTGTATTATTGACG	0.572												
PTCHD2	57540	broad.mit.edu	37	1	11579431	11579431	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:11579431C>T	uc001ash.3	+	8	2047	c.1909C>T	c.(1909-1911)CGG>TGG	p.R637W	PTCHD2_uc001asi.1_Missense_Mutation_p.R637W	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	637	Cytoplasmic (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GAATTGCAGCCGGAAGACCTC	0.642												
CELA2B	51032	broad.mit.edu	37	1	15808798	15808798	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:15808798A>G	uc001awl.2	+	4	291	c.266A>G	c.(265-267)AAC>AGC	p.N89S		NM_015849	NP_056933	P08218	CEL2B_HUMAN	elastase 2B preproprotein	89	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1						GGCCAGCATAACCTCTACGTT	0.577												
SPEN	23013	broad.mit.edu	37	1	16258881	16258881	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:16258881G>A	uc001axk.1	+	11	6350	c.6146G>A	c.(6145-6147)GGC>GAC	p.G2049D	SPEN_uc010obp.1_Missense_Mutation_p.G2008D	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2049					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)		AAAGATGCTGGCACAGACAAA	0.512												
SPEN	23013	broad.mit.edu	37	1	16261125	16261125	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:16261125C>T	uc001axk.1	+	11	8594	c.8390C>T	c.(8389-8391)CCG>CTG	p.P2797L	SPEN_uc010obp.1_Missense_Mutation_p.P2756L	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2797	Interaction with RBPSUH (By similarity).				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)		GACGATCGTCCGGCAGACGCG	0.597												
KLHDC7A	127707	broad.mit.edu	37	1	18809260	18809260	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:18809260C>T	uc001bax.2	+	1	1837	c.1785C>T	c.(1783-1785)GGC>GGT	p.G595G	KLHDC7A_uc009vpg.2_Silent_p.G377G	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	595	Kelch 4.					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATGCCATCGGCGGAGAGTGTC	0.701												
KIAA0090	23065	broad.mit.edu	37	1	19565789	19565789	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:19565789A>G	uc001bbo.2	-	9	1005	c.962T>C	c.(961-963)CTA>CCA	p.L321P	KIAA0090_uc001bbp.2_Missense_Mutation_p.L321P|KIAA0090_uc001bbq.2_Missense_Mutation_p.L321P|KIAA0090_uc001bbr.2_Missense_Mutation_p.L299P	NM_015047	NP_055862	Q8N766	K0090_HUMAN	hypothetical protein LOC23065 precursor	321	Extracellular (Potential).					integral to membrane	protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		AAAGCTCACTAGGGCAGTCTG	0.552												
EPHB2	2048	broad.mit.edu	37	1	23189542	23189542	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:23189542G>A	uc009vqj.1	+	4	969	c.824G>A	c.(823-825)GGG>GAG	p.G275E	EPHB2_uc001bge.2_Missense_Mutation_p.G275E|EPHB2_uc001bgf.2_Missense_Mutation_p.G275E|EPHB2_uc010odu.1_Missense_Mutation_p.G275E	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	275	Extracellular (Potential).|Cys-rich.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TGTCCATCTGGGACTTTCAAG	0.582									Hereditary_Prostate_Cancer			
GALE	2582	broad.mit.edu	37	1	24124675	24124675	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:24124675C>A	uc009vqo.1	-	4	493	c.283G>T	c.(283-285)GGC>TGC	p.G95C	GALE_uc001bhv.1_Missense_Mutation_p.G95C|GALE_uc001bhw.1_Missense_Mutation_p.G95C|GALE_uc001bhx.1_Missense_Mutation_p.G95C|GALE_uc009vqp.1_Missense_Mutation_p.G95C|GALE_uc001bhy.1_Missense_Mutation_p.G95C|GALE_uc001bhz.1_Missense_Mutation_p.G21C|GALE_uc001bia.2_5'Flank|GALE_uc009vqq.1_3'UTR	NM_001127621	NP_001121093	Q14376	GALE_HUMAN	UDP-galactose-4-epimerase	95					galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity				0		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		ACCGACTCGCCCACGGCCTTG	0.562												
EXTL1	2134	broad.mit.edu	37	1	26349763	26349763	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:26349763G>A	uc001blf.2	+	1	1493	c.626G>A	c.(625-627)GGT>GAT	p.G209D		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	exostoses-like 1	209	Lumenal (Potential).				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CCGTTGCGAGGTGGGGCTCCT	0.687												
TMEM200B	399474	broad.mit.edu	37	1	29447764	29447764	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:29447764G>T	uc001brn.1	-	2	637	c.577C>A	c.(577-579)CCG>ACG	p.P193T		NM_001003682	NP_001003682	Q69YZ2	T200B_HUMAN	transmembrane protein 200B	193	Pro-rich.					integral to membrane					0		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)		CCCCGACGCGGGGACGGGTCC	0.687												
PUM1	9698	broad.mit.edu	37	1	31425154	31425154	+	Missense_Mutation	SNP	T	T	C	rs144369611	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:31425154T>C	uc001bsi.1	-	16	2761	c.2648A>G	c.(2647-2649)AAT>AGT	p.N883S	PUM1_uc001bsf.1_Missense_Mutation_p.N549S|PUM1_uc001bsg.1_Missense_Mutation_p.N617S|PUM1_uc001bsh.1_Missense_Mutation_p.N883S|PUM1_uc001bsj.1_Missense_Mutation_p.N857S|PUM1_uc010oga.1_Missense_Mutation_p.N739S|PUM1_uc001bsk.1_Missense_Mutation_p.N919S|PUM1_uc010ogb.1_Missense_Mutation_p.N824S	NM_014676	NP_055491	Q14671	PUM1_HUMAN	pumilio 1 isoform 2	883	PUM-HD.|Pumilio 1.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GAGGATTTCATTGAAGACAAG	0.443												
RNF19B	127544	broad.mit.edu	37	1	33402512	33402512	+	Silent	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:33402512G>T	uc010oho.1	-	9	2094	c.2094C>A	c.(2092-2094)ACC>ACA	p.T698T	RNF19B_uc001bwm.3_3'UTR|RNF19B_uc010ohp.1_Silent_p.T697T	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B isoform a	698						integral to membrane	ligase activity|protein binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGGCTCTGGGGGTCGAGGGGC	0.592												
TRIM62	55223	broad.mit.edu	37	1	33612805	33612805	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:33612805C>T	uc001bxb.2	-	5	2039	c.1401G>A	c.(1399-1401)CCG>CCA	p.P467P		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	tripartite motif-containing 62	467	B30.2/SPRY.					intracellular	zinc ion binding				0		Myeloproliferative disorder(586;0.0393)				TGATCCGCAGCGGCTGAACGT	0.517												
ZSCAN20	7579	broad.mit.edu	37	1	33957049	33957049	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:33957049T>C	uc001bxj.3	+	6	1358	c.1191T>C	c.(1189-1191)GGT>GGC	p.G397G	ZSCAN20_uc001bxk.2_Silent_p.G343G|ZSCAN20_uc009vui.2_Silent_p.G397G	NM_145238	NP_660281	P17040	ZSC20_HUMAN	zinc finger protein 31	397					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ACCCACCAGGTACCTGCCCCT	0.607												
CSMD2	114784	broad.mit.edu	37	1	34164385	34164385	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:34164385C>T	uc001bxn.1	-	24	3802	c.3773G>A	c.(3772-3774)CGG>CAG	p.R1258Q	CSMD2_uc001bxm.1_Missense_Mutation_p.R1298Q|CSMD2_uc001bxo.1_Missense_Mutation_p.R171Q	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1258	Sushi 7.|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)				GTCCCAGGTCCGGCGCTCTCC	0.602												
DLGAP3	58512	broad.mit.edu	37	1	35369944	35369944	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:35369944G>A	uc001byc.2	-	1	1041	c.1041C>T	c.(1039-1041)GCC>GCT	p.A347A		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	347					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)				TGCCTGGCCCGGCCCCCGGGT	0.607												
KIAA0754	643314	broad.mit.edu	37	1	39876236	39876236	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:39876236A>G	uc009vvt.1	+	1	1061	c.299A>G	c.(298-300)GAT>GGT	p.D100G	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	Error:Variant_position_missing_in_O94854_after_alignment											0	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATAATATTTGATGCACTAAAG	0.448												
MACF1	23499	broad.mit.edu	37	1	39910383	39910383	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:39910383T>C	uc010oiu.1	+	45	14941	c.14810T>C	c.(14809-14811)CTT>CCT	p.L4937P	MACF1_uc010ois.1_Missense_Mutation_p.L4435P	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)			AATCAACTACTTGACAAGGGC	0.458												
PABPC4	8761	broad.mit.edu	37	1	40030385	40030385	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:40030385G>A	uc010oiv.1	-	9	2204	c.1306C>T	c.(1306-1308)CGC>TGC	p.R436C	PABPC4_uc001cdl.2_Missense_Mutation_p.R436C|PABPC4_uc001cdm.2_Missense_Mutation_p.R436C	NM_003819	NP_003810	Q13310	PABP4_HUMAN	poly A binding protein, cytoplasmic 4 isoform 2	436					blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding				0	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGCTGCCAGCGTGGATTAGGC	0.522												
HPCAL4	51440	broad.mit.edu	37	1	40149648	40149648	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:40149648G>A	uc001cdr.2	-	3	459	c.339C>T	c.(337-339)GAC>GAT	p.D113D	HPCAL4_uc010oix.1_Intron	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	hippocalcin-like protein 4	113	EF-hand 3.|2 (Potential).				central nervous system development	intracellular	calcium ion binding			central_nervous_system(1)	1	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-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;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGATGCGCCCGTCGCCGTCCA	0.682												
OXCT2	64064	broad.mit.edu	37	1	40236206	40236206	+	Missense_Mutation	SNP	G	G	A	rs145014048	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:40236206G>A	uc001ceb.1	-	1	815	c.722C>T	c.(721-723)ACG>ATG	p.T241M	BMP8B_uc001cdz.1_Intron|BMP8B_uc001cea.1_Intron|OXCT2_uc009vvu.1_Missense_Mutation_p.T241M	NM_022120	NP_071403	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2 precursor	241					ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity			pancreas(1)	1	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	CTCCACCGCCGTGACGTCTGC	0.572											OREG0013400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SLC6A9	6536	broad.mit.edu	37	1	44468043	44468043	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:44468043C>T	uc001cll.2	-	8	1315	c.1123G>A	c.(1123-1125)GCG>ACG	p.A375T	SLC6A9_uc009vxe.2_Missense_Mutation_p.A231T|SLC6A9_uc010okm.1_Missense_Mutation_p.A302T|SLC6A9_uc001clm.2_Missense_Mutation_p.A321T|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Missense_Mutation_p.A306T|SLC6A9_uc001cln.2_Missense_Mutation_p.A302T|SLC6A9_uc010oko.1_Missense_Mutation_p.A191T|SLC6A9_uc010okp.1_RNA	NM_201649	NP_964012	P48067	SC6A9_HUMAN	solute carrier family 6 member 9 isoform 2	375	Helical; Name=6; (Potential).					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CCTCCCCACGCGCAGCCCAGT	0.622												
SLC6A9	6536	broad.mit.edu	37	1	44468551	44468551	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:44468551T>C	uc001cll.2	-	6	1108	c.916A>G	c.(916-918)ATC>GTC	p.I306V	SLC6A9_uc009vxe.2_Missense_Mutation_p.I162V|SLC6A9_uc010okm.1_Missense_Mutation_p.I233V|SLC6A9_uc001clm.2_Missense_Mutation_p.I252V|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Missense_Mutation_p.I237V|SLC6A9_uc001cln.2_Missense_Mutation_p.I233V|SLC6A9_uc010oko.1_Missense_Mutation_p.I122V|SLC6A9_uc010okp.1_RNA	NM_201649	NP_964012	P48067	SC6A9_HUMAN	solute carrier family 6 member 9 isoform 2	306	Helical; Name=4; (Potential).					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	ACCCCTCGGATGAGGCAGAGG	0.592												
USP24	23358	broad.mit.edu	37	1	55562631	55562631	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:55562631T>C	uc001cyg.3	-	46	5450	c.5450A>G	c.(5449-5451)GAC>GGC	p.D1817G		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	1977					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13						TTACCGCCTGTCCTTAATGAA	0.517												
FOXD3	27022	broad.mit.edu	37	1	63789108	63789108	+	Missense_Mutation	SNP	G	G	A	rs145695569		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:63789108G>A	uc001dax.2	+	1	379	c.379G>A	c.(379-381)GCG>ACG	p.A127T		NM_012183	NP_036315	Q9UJU5	FOXD3_HUMAN	forkhead box D3	127					axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						cagcggttcggcggGAGGCCT	0.299												
SFRS11	9295	broad.mit.edu	37	1	70698020	70698020	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:70698020C>A	uc001des.2	+	4	531	c.407C>A	c.(406-408)CCT>CAT	p.P136H	SFRS11_uc001det.2_Missense_Mutation_p.P136H|SFRS11_uc001deu.2_Missense_Mutation_p.P136H|SFRS11_uc001dev.2_Translation_Start_Site|SFRS11_uc001dew.2_Missense_Mutation_p.P76H	NM_004768	NP_004759	Q05519	SRS11_HUMAN	splicing factor, arginine/serine-rich 11	136					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding				0						GGTCTTCTGCCTGGTGGTGGA	0.448												
CTBS	1486	broad.mit.edu	37	1	85029068	85029068	+	Missense_Mutation	SNP	G	G	A	rs138752249	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:85029068G>A	uc001dka.2	-	6	894	c.829C>T	c.(829-831)CGG>TGG	p.R277W	SPATA1_uc001djz.1_Intron|CTBS_uc001dkc.2_Missense_Mutation_p.R186W|CTBS_uc001dkd.2_Missense_Mutation_p.R71W|CTBS_uc001dkb.2_Missense_Mutation_p.R71W	NM_004388	NP_004379	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl- precursor	277						lysosome	cation binding				0				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		GGAGCCCCCCGGAAAGGGACT	0.388												
CLCA4	22802	broad.mit.edu	37	1	87040313	87040313	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:87040313C>T	uc009wcs.2	+	10	1602	c.1558C>T	c.(1558-1560)CTC>TTC	p.L520F	CLCA4_uc009wct.2_Missense_Mutation_p.L283F|CLCA4_uc009wcu.2_Missense_Mutation_p.L340F	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	520						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			ovary(2)	2		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CACGTTCTTTCTCATCACATG	0.413												
BARHL2	343472	broad.mit.edu	37	1	91180162	91180162	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:91180162C>T	uc001dns.2	-	2	819	c.777G>A	c.(775-777)GTG>GTA	p.V259V		NM_020063	NP_064447	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	259	Homeobox.					nucleus	sequence-specific DNA binding			ovary(1)	1		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		TGCGATCCTGCACGCTCAGGT	0.562												
CELSR2	1952	broad.mit.edu	37	1	109795285	109795285	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:109795285G>A	uc001dxa.3	+	1	2645	c.2584G>A	c.(2584-2586)GGT>AGT	p.G862S		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	862	Extracellular (Potential).|Cadherin 7.				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)		CGATGGAGACGGTGACTTTAT	0.552												
AMIGO1	57463	broad.mit.edu	37	1	110050335	110050335	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:110050335G>T	uc001dxx.3	-	2	1582	c.1200C>A	c.(1198-1200)TGC>TGA	p.C400*		NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN	AMIGO protein precursor	400	Cytoplasmic (Potential).				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				ovary(1)|breast(1)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		CTACACCCCGGCACCAGCAGC	0.547												
KCNC4	3749	broad.mit.edu	37	1	110754491	110754491	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:110754491C>T	uc001dzh.2	+	1	427	c.370C>T	c.(370-372)CCG>TCG	p.P124S	KCNC4_uc001dzf.2_Missense_Mutation_p.P124S|KCNC4_uc009wfr.2_Missense_Mutation_p.P124S|KCNC4_uc001dzg.2_Missense_Mutation_p.P124S|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	124	Cytoplasmic (Potential).				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CGTGTGCGGGCCGCTCTTCGA	0.632												
KCNA3	3738	broad.mit.edu	37	1	111216088	111216088	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:111216088G>A	uc001dzv.1	-	1	1568	c.1344C>T	c.(1342-1344)GGC>GGT	p.G448G		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	448	Selectivity filter (By similarity).					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)		GGTGCATATCGCCGTAACCCA	0.562												
KCNA3	3738	broad.mit.edu	37	1	111216663	111216663	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:111216663G>A	uc001dzv.1	-	1	993	c.769C>T	c.(769-771)CCG>TCG	p.P257S		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	257						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)		CGGAACTCCGGCAGCGTCTCC	0.662												
KCNA3	3738	broad.mit.edu	37	1	111217063	111217063	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:111217063G>A	uc001dzv.1	-	1	593	c.369C>T	c.(367-369)TGC>TGT	p.C123C		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	123						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)		CGGGGAACTGGCAAAGGGTCT	0.677												
MAGI3	260425	broad.mit.edu	37	1	114226109	114226109	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:114226109A>C	uc001edk.2	+	21	4100	c.3919A>C	c.(3919-3921)AAA>CAA	p.K1307Q	MAGI3_uc001edi.3_3'UTR|MAGI3_uc010owm.1_3'UTR|MAGI3_uc001edj.2_3'UTR|MAGI3_uc009wgo.2_RNA	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	membrane-associated guanylate kinase-related  3	1332					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			lung(3)|ovary(2)|central_nervous_system(1)	6	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCTGAGGCCAAATTATTAGA	0.463												
SYCP1	6847	broad.mit.edu	37	1	115488986	115488986	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:115488986C>T	uc001efr.2	+	26	2440	c.2231C>T	c.(2230-2232)TCA>TTA	p.S744L	SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.S744L|SYCP1_uc009wgw.2_Missense_Mutation_p.S744L	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	744	Potential.				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding			skin(1)	1	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAACAGTCATCACTGAGAGCA	0.333												
MAN1A2	10905	broad.mit.edu	37	1	118035834	118035834	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:118035834T>A	uc001ehd.1	+	9	1955	c.1234T>A	c.(1234-1236)TCA>ACA	p.S412T	MAN1A2_uc009whg.1_Missense_Mutation_p.S202T	NM_006699	NP_006690	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	412	Lumenal (Potential).				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity				0	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		ATGGTTGATGTCAGATAAAAC	0.368												
WARS2	10352	broad.mit.edu	37	1	119619170	119619170	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:119619170T>C	uc001ehn.2	-	2	179	c.151A>G	c.(151-153)AAT>GAT	p.N51D	WARS2_uc010oxf.1_5'UTR|WARS2_uc001ehm.2_Missense_Mutation_p.N51D|WARS2_uc010oxg.1_Missense_Mutation_p.N51D|WARS2_uc010oxh.1_Missense_Mutation_p.N51D|WARS2_uc010oxi.1_5'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	51					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity				0	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	CCCAGGTAATTGCCCAGGTGG	0.458												
PHGDH	26227	broad.mit.edu	37	1	120263849	120263849	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:120263849C>T	uc001ehz.2	+	2	422	c.195C>T	c.(193-195)AAC>AAT	p.N65N	PHGDH_uc009whl.2_Translation_Start_Site|PHGDH_uc009whm.2_Translation_Start_Site|PHGDH_uc001eia.2_Silent_p.N65N|PHGDH_uc009whn.2_Silent_p.N65N|PHGDH_uc001eib.2_Silent_p.N31N	NM_006623	NP_006614	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	65					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			ovary(1)	1	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	ATGTCATCAACGCAGCTGAGA	0.517												
POLR3GL	84265	broad.mit.edu	37	1	145457969	145457969	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:145457969T>C	uc001enp.1	-	4	398	c.291A>G	c.(289-291)TCA>TCG	p.S97S	NBPF10_uc001emp.3_Intron	NM_032305	NP_115681	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	97											0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAATCGGACCTGACATCTGAT	0.483												
PIAS3	10401	broad.mit.edu	37	1	145578465	145578465	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:145578465G>A	uc001eoc.1	+	2	519	c.428G>A	c.(427-429)CGG>CAG	p.R143Q	NBPF10_uc001emp.3_Intron|PIAS3_uc010oyy.1_Missense_Mutation_p.R134Q|PIAS3_uc001eod.1_5'Flank	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	143	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAGCTCATCCGGCCCACCACC	0.542												
ZNF687	57592	broad.mit.edu	37	1	151260126	151260126	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:151260126C>T	uc001exq.2	+	2	1457	c.1359C>T	c.(1357-1359)GAC>GAT	p.D453D	ZNF687_uc001exp.1_Silent_p.D462D|ZNF687_uc009wmo.2_Silent_p.D453D|ZNF687_uc009wmp.2_Silent_p.D453D	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTAAGGCTGACGGGCGGGCAG	0.632												
CGN	57530	broad.mit.edu	37	1	151503053	151503053	+	Missense_Mutation	SNP	G	G	A	rs149778114		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:151503053G>A	uc009wmw.2	+	13	2546	c.2402G>A	c.(2401-2403)CGC>CAC	p.R801H		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	795	Glu-rich.|Potential.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGGAGGCACGCCTAGAGGAG	0.687												
TCHH	7062	broad.mit.edu	37	1	152083414	152083414	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:152083414T>C	uc001ezp.2	-	2	2279	c.2279A>G	c.(2278-2280)GAA>GGA	p.E760G	TCHH_uc009wne.1_Missense_Mutation_p.E760G	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	760					keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTCCTCTTCCTGCTGCTG	0.677												
TCHH	7062	broad.mit.edu	37	1	152083994	152083994	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:152083994G>A	uc001ezp.2	-	2	1699	c.1699C>T	c.(1699-1701)CTG>TTG	p.L567L	TCHH_uc009wne.1_Silent_p.L567L	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	567	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCGCGCTTCAGCCGCTGCTCT	0.662												
LCE1E	353135	broad.mit.edu	37	1	152760047	152760047	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:152760047A>G	uc001fan.2	+	2	325	c.272A>G	c.(271-273)CAG>CGG	p.Q91R		NM_178353	NP_848130	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	91	Cys-rich.				keratinization						0	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACAGACCCCAGAGCTCTGAC	0.677												
LCE1D	353134	broad.mit.edu	37	1	152770530	152770530	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:152770530A>G	uc009wnp.2	+	2	303	c.260A>G	c.(259-261)CAG>CGG	p.Q87R		NM_178352	NP_848129	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	87	Cys-rich.				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm					0	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGCAGACCCCAGAGCTCTGAC	0.692												
LOR	4014	broad.mit.edu	37	1	153234308	153234308	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:153234308G>A	uc001fbm.2	+	2	937	c.883G>A	c.(883-885)GTC>ATC	p.V295I		NM_000427	NP_000418	P23490	LORI_HUMAN	loricrin	295					keratinization|peptide cross-linking	cornified envelope|cytoplasm|insoluble fraction|nucleoplasm	protein binding, bridging|structural constituent of cytoskeleton				0	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGCAAGGGCGTCCCGATCTG	0.677												
SMG5	23381	broad.mit.edu	37	1	156228860	156228860	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:156228860A>G	uc001foc.3	-	16	2527	c.2378T>C	c.(2377-2379)TTC>TCC	p.F793S	SMG5_uc009wrv.2_Missense_Mutation_p.F278S	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	793					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					AATGCTGACGAAGATGCCAAC	0.607												
HAPLN2	60484	broad.mit.edu	37	1	156594421	156594421	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:156594421C>T	uc001fpn.1	+	6	992	c.585C>T	c.(583-585)AAC>AAT	p.N195N		NM_021817	NP_068589	Q9GZV7	HPLN2_HUMAN	brain link protein-1 precursor	195	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding				0	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACTGGTGTAACGCGGGCTGGC	0.726												
NES	10763	broad.mit.edu	37	1	156641212	156641212	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:156641212A>G	uc001fpq.2	-	4	2901	c.2768T>C	c.(2767-2769)CTG>CCG	p.L923P		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	923	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCCTTTCCCAGGTTCTCTTC	0.522												
NTRK1	4914	broad.mit.edu	37	1	156836706	156836706	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:156836706C>A	uc001fqh.1	+	4	420	c.364C>A	c.(364-366)CTC>ATC	p.L122I	NTRK1_uc001fqf.1_Missense_Mutation_p.L92I|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Missense_Mutation_p.L122I|NTRK1_uc009wsk.1_Missense_Mutation_p.L122I	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	122	LRR 2.|Extracellular (Potential).				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CCGCAGGAATCTCTCCTTCAA	0.577			T	TPM3|TPR|TFG	papillary thyroid					TSP Lung(10;0.080)		
ARHGEF11	9826	broad.mit.edu	37	1	156909362	156909362	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:156909362T>C	uc001fqo.2	-	36	4994	c.3954A>G	c.(3952-3954)GGA>GGG	p.G1318G	ARHGEF11_uc010phu.1_Silent_p.G734G|ARHGEF11_uc001fqn.2_Silent_p.G1358G	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1318					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)					CTTTGTAACCTCCTGCTGCCT	0.493												
CD1A	909	broad.mit.edu	37	1	158225973	158225973	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:158225973C>T	uc001frt.2	+	3	1038	c.505C>T	c.(505-507)CAG>TAG	p.Q169*		NM_001763	NP_001754	P06126	CD1A_HUMAN	CD1A antigen precursor	169	Extracellular (Potential).				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CAATCAGAATCAGCATGAAAA	0.463												
SPTA1	6708	broad.mit.edu	37	1	158609667	158609667	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:158609667A>G	uc001fst.1	-	34	5067	c.4868T>C	c.(4867-4869)CTC>CCC	p.L1623P		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1623	Spectrin 16.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TACCTCTGAGAGCCAGAACTC	0.433												
SPTA1	6708	broad.mit.edu	37	1	158641957	158641957	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:158641957G>A	uc001fst.1	-	11	1579	c.1380C>T	c.(1378-1380)GCC>GCT	p.A460A		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	460	Spectrin 5.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					GTTCCAGCAGGGCAGTCCAGT	0.383												
IFI16	3428	broad.mit.edu	37	1	159019381	159019381	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:159019381T>G	uc001ftg.2	+	8	1779	c.1489T>G	c.(1489-1491)TTA>GTA	p.L497V	IFI16_uc010pis.1_Missense_Mutation_p.L497V|IFI16_uc001fth.2_Intron|IFI16_uc010pit.1_Intron	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	497					cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)					CAGCAGTTTCTTAACCACGGT	0.498												
OR10J5	127385	broad.mit.edu	37	1	159505639	159505639	+	Silent	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:159505639A>G	uc010piw.1	-	1	159	c.159T>C	c.(157-159)CAT>CAC	p.H53H		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J,	53	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_hematologic(112;0.0429)					TGTGGAGATGATGGTCAATGC	0.423												
COPA	1314	broad.mit.edu	37	1	160269047	160269047	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:160269047C>T	uc009wti.2	-	18	2069	c.1675G>A	c.(1675-1677)GGG>AGG	p.G559R	COPA_uc001fvv.3_Missense_Mutation_p.G568R	NM_004371	NP_004362	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha isoform	559					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			ovary(1)|skin(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGAATGATCCCGTGGTCCCTA	0.488												
VANGL2	57216	broad.mit.edu	37	1	160385899	160385899	+	Missense_Mutation	SNP	G	G	A	rs141931627	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:160385899G>A	uc001fwb.1	+	4	418	c.119G>A	c.(118-120)GGG>GAG	p.G40E	VANGL2_uc001fwc.1_Missense_Mutation_p.G40E	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	vang-like 2	40	Cytoplasmic (Potential).				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				ovary(1)	1	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGGGCCGAGGGGACAAGTCG	0.647												
FAM78B	149297	broad.mit.edu	37	1	166039513	166039513	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:166039513G>A	uc001gdr.2	-	3	1341	c.751C>T	c.(751-753)CGG>TGG	p.R251W	FAM78B_uc010plc.1_RNA|FAM78B_uc001gdq.2_RNA	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN	hypothetical protein LOC149297	251										central_nervous_system(1)|skin(1)	2	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					GGTGGCCCCCGCTTGGGCCTC	0.602												
RABGAP1L	9910	broad.mit.edu	37	1	174652732	174652732	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:174652732C>T	uc001gjx.2	+	15	2092	c.1897C>T	c.(1897-1899)CAT>TAT	p.H633Y		NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like isoform A	633	Rab-GAP TBC.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			ovary(2)|lung(1)|kidney(1)	4						ATTACTGCTGCATGTAAGTAA	0.383												
TNR	7143	broad.mit.edu	37	1	175306814	175306814	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:175306814T>C	uc001gkp.1	-	17	3465	c.3384A>G	c.(3382-3384)GGA>GGG	p.G1128G	TNR_uc009wwu.1_Silent_p.G1128G	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	1128					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					ACACCCGGCCTCCTGCAAGGA	0.507												
FAM5B	57795	broad.mit.edu	37	1	177245458	177245458	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:177245458C>T	uc001glf.2	+	6	1212	c.900C>T	c.(898-900)AGC>AGT	p.S300S	FAM5B_uc010pna.1_Silent_p.S50S|FAM5B_uc001glg.2_Silent_p.S195S	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	300						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						GCAAGTGCAGCCCCACCTTCC	0.582												
RALGPS2	55103	broad.mit.edu	37	1	178854298	178854298	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:178854298G>A	uc001glz.2	+	12	1330	c.992G>A	c.(991-993)CGG>CAG	p.R331Q	RALGPS2_uc010pnb.1_Missense_Mutation_p.R331Q	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	331					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding				0						CCATCCCCTCGGAATCTGATT	0.428												
LAMC1	3915	broad.mit.edu	37	1	183086469	183086469	+	Missense_Mutation	SNP	C	C	T	rs141665938	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:183086469C>T	uc001gpy.3	+	9	1836	c.1579C>T	c.(1579-1581)CGT>TGT	p.R527C		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	527	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGATGGGTGGCGTGCGGAACA	0.463												
HMCN1	83872	broad.mit.edu	37	1	186022123	186022123	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:186022123T>G	uc001grq.1	+	43	6846	c.6617T>G	c.(6616-6618)CTT>CGT	p.L2206R		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2206	Ig-like C2-type 20.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CTTACTCAACTTACAGTCATT	0.353												
FAM5C	339479	broad.mit.edu	37	1	190129952	190129952	+	Silent	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:190129952A>G	uc001gse.1	-	7	1262	c.1030T>C	c.(1030-1032)TTG>CTG	p.L344L	FAM5C_uc010pot.1_Silent_p.L242L	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	344						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					ATTGTCCACAAATGCATTATA	0.323												
LHX9	56956	broad.mit.edu	37	1	197890647	197890647	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:197890647G>A	uc001guk.1	+	3	1028	c.591G>A	c.(589-591)CCG>CCA	p.P197P	LHX9_uc001gui.1_Silent_p.P188P|LHX9_uc001guj.1_Silent_p.P203P	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	LIM homeobox 9 isoform 1	197					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						AGTATCCACCGCAGCTGAGCT	0.642												
PPP1R12B	4660	broad.mit.edu	37	1	202532034	202532034	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:202532034A>G	uc001gya.1	+	20	2780	c.2636A>G	c.(2635-2637)AAC>AGC	p.N879S	PPP1R12B_uc001gxz.1_Missense_Mutation_p.N879S|PPP1R12B_uc001gyb.1_Missense_Mutation_p.N105S|PPP1R12B_uc001gyc.1_Missense_Mutation_p.N105S	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	879					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)			GAAGACAGCAACAGAGATTAT	0.512												
ATP2B4	493	broad.mit.edu	37	1	203668687	203668687	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:203668687T>A	uc001gzw.2	+	4	1375	c.491T>A	c.(490-492)TTA>TAA	p.L164*	ATP2B4_uc001gzv.2_Nonsense_Mutation_p.L164*|ATP2B4_uc009xaq.2_Nonsense_Mutation_p.L164*	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	164	Helical; (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)			ATCGTGGTGTTAGTGACTGCC	0.502												
MAPKAPK2	9261	broad.mit.edu	37	1	206858688	206858688	+	Silent	SNP	G	G	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:206858688G>C	uc001hem.1	+	1	400	c.114G>C	c.(112-114)CCG>CCC	p.P38P	MAPKAPK2_uc001hel.1_Silent_p.P38P	NM_032960	NP_116584	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated	38	Pro-rich.|Poly-Pro.				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity				0	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			cgccgccgccgcccccgcagc	0.284												
CR1L	1379	broad.mit.edu	37	1	207851614	207851614	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:207851614T>A	uc001hga.3	+	3	470	c.349T>A	c.(349-351)TCC>ACC	p.S117T	CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	117	Sushi 2.					cytoplasm|extracellular region|membrane					0						CCAGTTCAGATCCCAAATTAA	0.413												
SYT14	255928	broad.mit.edu	37	1	210273768	210273768	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:210273768T>C	uc009xcv.2	+	6	1198	c.1126T>C	c.(1126-1128)TCA>CCA	p.S376P	SYT14_uc001hhs.3_Missense_Mutation_p.S421P|SYT14_uc001hht.3_Missense_Mutation_p.S376P|SYT14_uc001hhu.3_Intron|SYT14_uc010psn.1_Missense_Mutation_p.S421P|SYT14_uc010pso.1_Missense_Mutation_p.S338P	NM_153262	NP_694994	Q8NB59	SYT14_HUMAN	synaptotagmin XIV isoform 4	376	Cytoplasmic (Potential).|C2 1.					integral to membrane				ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AGGGAAAATGTCATTGCCTGT	0.333												
EPRS	2058	broad.mit.edu	37	1	220205738	220205738	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:220205738T>G	uc001hly.1	-	5	789	c.519A>C	c.(517-519)AAA>AAC	p.K173N	EPRS_uc010puf.1_5'UTR|EPRS_uc001hlz.1_Missense_Mutation_p.K173N|EPRS_uc009xdt.1_Missense_Mutation_p.K6T	NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	173	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CCACTCGAGCTTTGGTTGTTG	0.284												
BPNT1	10380	broad.mit.edu	37	1	220253146	220253146	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:220253146C>T	uc001hma.2	-	2	215	c.43G>A	c.(43-45)GCA>ACA	p.A15T	BPNT1_uc010pug.1_Intron|BPNT1_uc010puh.1_Missense_Mutation_p.A15T|BPNT1_uc001hmb.3_Missense_Mutation_p.A15T	NM_006085	NP_006076	O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	15					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0558)		ATAGAATATGCGGAGGCTACC	0.413												
DUSP10	11221	broad.mit.edu	37	1	221912436	221912436	+	Silent	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:221912436G>T	uc001hmy.1	-	2	833	c.651C>A	c.(649-651)TCC>TCA	p.S217S	DUSP10_uc001hmx.1_5'Flank|DUSP10_uc001hmz.1_Intron	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10 isoform a	217	Rhodanese.				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0103)		CTTCCCTACAGGAAATCAAGT	0.473												
TAF1A	9015	broad.mit.edu	37	1	222732052	222732052	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:222732052G>A	uc009xdz.1	-	11	1492	c.1303C>T	c.(1303-1305)CGG>TGG	p.R435W	TAF1A_uc009xdy.1_Missense_Mutation_p.R126W|TAF1A_uc001hni.1_Missense_Mutation_p.R321W|TAF1A_uc001hnj.2_Missense_Mutation_p.R435W|TAF1A_uc001hnk.2_Missense_Mutation_p.R321W	NM_139352	NP_647603	Q15573	TAF1A_HUMAN	TBP-associated factor 1A isoform 2	435					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding				0				GBM - Glioblastoma multiforme(131;0.0186)		CTCTTCATCCGCTTAATTTTC	0.303												
C1orf65	164127	broad.mit.edu	37	1	223568232	223568232	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:223568232G>A	uc001hoa.2	+	1	1518	c.1415G>A	c.(1414-1416)CGC>CAC	p.R472H		NM_152610	NP_689823	Q8N715	CA065_HUMAN	hypothetical protein LOC164127	472	Potential.									central_nervous_system(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0704)		GAGCGGCAACGCGAGCTGAGG	0.602												
LEFTY2	7044	broad.mit.edu	37	1	226125159	226125159	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:226125159T>C	uc001hpt.1	-	4	1163	c.1083A>G	c.(1081-1083)CCA>CCG	p.P361P	LEFTY2_uc010pvk.1_Silent_p.P327P|LEFTY2_uc009xek.1_3'UTR	NM_003240	NP_003231	O00292	LFTY2_HUMAN	endometrial bleeding associated factor	361					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding				0	Breast(184;0.197)					GGAGCCTCCTTGGCACGAGCG	0.567												
GUK1	2987	broad.mit.edu	37	1	228334618	228334618	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:228334618C>T	uc001hsh.2	+	5	533	c.230C>T	c.(229-231)TCG>TTG	p.S77L	GUK1_uc001hsi.2_Missense_Mutation_p.S98L|GUK1_uc001hsj.2_Missense_Mutation_p.S17L|GUK1_uc010pvv.1_Missense_Mutation_p.S77L|GJC2_uc001hsk.2_5'Flank	NM_000858	NP_000849	Q16774	KGUA_HUMAN	guanylate kinase 1 isoform b	77	Guanylate kinase-like.				nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity				0		Prostate(94;0.0405)				GCCGAGTTCTCGGGGAACCTG	0.612												
OBSCN	84033	broad.mit.edu	37	1	228528510	228528510	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:228528510G>A	uc009xez.1	+	72	17662	c.17618G>A	c.(17617-17619)CGC>CAC	p.R5873H	OBSCN_uc001hsn.2_Missense_Mutation_p.R5873H|OBSCN_uc001hsr.1_Missense_Mutation_p.R502H	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5873	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CTGCCACAGCGCGCTGAGAAC	0.687												
URB2	9816	broad.mit.edu	37	1	229772442	229772442	+	Silent	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:229772442A>G	uc001hts.1	+	4	2218	c.2082A>G	c.(2080-2082)GAA>GAG	p.E694E	URB2_uc009xfd.1_Silent_p.E694E	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	694						nucleolus				central_nervous_system(2)|ovary(1)	3						TCCGGTCTGAAGGAGCCATCC	0.448												
DISC1	27185	broad.mit.edu	37	1	231954090	231954090	+	Missense_Mutation	SNP	C	C	T	rs148111679	by1000genomes	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:231954090C>T	uc001huz.2	+	9	1861	c.1808C>T	c.(1807-1809)ACG>ATG	p.T603M	TSNAX-DISC1_uc010pwg.1_Missense_Mutation_p.T592M|TSNAX-DISC1_uc010pwh.1_Missense_Mutation_p.T558M|TSNAX-DISC1_uc010pwi.1_Missense_Mutation_p.T558M|TSNAX-DISC1_uc010pwj.1_Missense_Mutation_p.T592M|TSNAX-DISC1_uc010pwk.1_Missense_Mutation_p.R558W|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwr.1_Missense_Mutation_p.T603M|DISC1_uc010pws.1_Missense_Mutation_p.R569W|DISC1_uc010pwt.1_Silent_p.D550D|DISC1_uc010pwu.1_Silent_p.D200D|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Missense_Mutation_p.T603M|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Missense_Mutation_p.T603M|DISC1_uc010pxb.1_Missense_Mutation_p.T603M|DISC1_uc010pxc.1_Intron|DISC1_uc010pxd.1_Missense_Mutation_p.T248M|DISC1_uc010pxe.1_Missense_Mutation_p.T603M|DISC1_uc009xfr.2_Missense_Mutation_p.T558M|DISC1_uc010pxf.1_Missense_Mutation_p.T603M|DISC1_uc010pxg.1_Intron|DISC1_uc010pxh.1_Missense_Mutation_p.T635M|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_Missense_Mutation_p.T248M|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Missense_Mutation_p.T481M|DISC1_uc010pxn.1_Missense_Mutation_p.T248M|DISC1_uc001hva.2_Missense_Mutation_p.T603M|DISC2_uc001hvd.2_RNA	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1 isoform L	603	Potential.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Interaction with TRAF3IP1.|Interaction with ATF4 and ATF5.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			skin(1)	1		all_cancers(173;0.0208)|Prostate(94;0.0975)				CATTTCTGGACGGCTAAAGAC	0.478												
LYST	1130	broad.mit.edu	37	1	235884191	235884191	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:235884191T>C	uc001hxj.2	-	40	9505	c.9330A>G	c.(9328-9330)GTA>GTG	p.V3110V	LYST_uc001hxi.2_Silent_p.V334V	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	3110					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)			TATTGTGGTATACATCATCAC	0.348									Chediak-Higashi_syndrome			
MTR	4548	broad.mit.edu	37	1	237026853	237026853	+	Nonsense_Mutation	SNP	C	C	T	rs138695265		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:237026853C>T	uc001hyi.3	+	22	2827	c.2404C>T	c.(2404-2406)CGA>TGA	p.R802*	MTR_uc010pxw.1_Nonsense_Mutation_p.R395*|MTR_uc010pxx.1_Nonsense_Mutation_p.R751*|MTR_uc010pxy.1_Nonsense_Mutation_p.R656*	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	802	B12-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CAATAATTTCCGGTAAGTTAG	0.468												
RYR2	6262	broad.mit.edu	37	1	237957207	237957207	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:237957207G>A	uc001hyl.1	+	95	13943	c.13823G>A	c.(13822-13824)CGG>CAG	p.R4608Q	RYR2_uc010pyb.1_Missense_Mutation_p.R41Q	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4608					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAAGTGGCACGGAAATTGGAA	0.358												
FMN2	56776	broad.mit.edu	37	1	240370469	240370469	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:240370469C>A	uc010pyd.1	+	5	2582	c.2357C>A	c.(2356-2358)TCT>TAT	p.S786Y	FMN2_uc010pye.1_Missense_Mutation_p.S790Y	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	786	Pro-rich.|FH1.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCAGAGATTTCTTTGATTGTG	0.572												
FMN2	56776	broad.mit.edu	37	1	240371913	240371913	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:240371913G>A	uc010pyd.1	+	5	4026	c.3801G>A	c.(3799-3801)TTG>TTA	p.L1267L	FMN2_uc010pye.1_Silent_p.L1271L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1267	Pro-rich.|FH1.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTCCTCCATTGCCAAGTGGCT	0.532												
FH	2271	broad.mit.edu	37	1	241667467	241667467	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:241667467A>G	uc001hyx.2	-	7	1015	c.983T>C	c.(982-984)ATG>ACG	p.M328T		NM_000143	NP_000134	P07954	FUMH_HUMAN	fumarate hydratase precursor	328			M -> R (in HLRCC).		fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			lung(3)|ovary(1)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		AGTAGTGTTCATGGCTCCACT	0.438			Mis|N|F			lieomyomatosis|renal			Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer			
SDCCAG8	10806	broad.mit.edu	37	1	243542116	243542116	+	Silent	SNP	A	A	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:243542116A>C	uc001hzw.2	+	13	1723	c.1567A>C	c.(1567-1569)AGA>CGA	p.R523R	SDCCAG8_uc010pyk.1_Silent_p.R378R|SDCCAG8_uc010pyl.1_Silent_p.R335R|SDCCAG8_uc001hzx.2_Silent_p.R335R	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	523	Potential.|Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding				0	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		GGAGTGCCTGAGACTAACAGA	0.488												
CNST	163882	broad.mit.edu	37	1	246811064	246811064	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:246811064A>G	uc001ibp.2	+	9	1939	c.1561A>G	c.(1561-1563)ATA>GTA	p.I521V	CNST_uc001ibo.3_Missense_Mutation_p.I521V	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	521					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0						TGACTTAGGCATACTGCTTCC	0.443												
AHCTF1	25909	broad.mit.edu	37	1	247062790	247062790	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:247062790C>T	uc001ibu.1	-	10	1464	c.1457G>A	c.(1456-1458)GGA>GAA	p.G486E	AHCTF1_uc001ibv.1_Missense_Mutation_p.G495E|AHCTF1_uc009xgs.1_5'UTR	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	486	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATGAACAACTCCCGAGTTTAA	0.279												
ZNF669	79862	broad.mit.edu	37	1	247263916	247263916	+	Silent	SNP	G	G	A	rs143544880		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:247263916G>A	uc001ice.2	-	4	1328	c.1155C>T	c.(1153-1155)ACC>ACT	p.T385T	ZNF669_uc001icf.2_Silent_p.T299T	NM_024804	NP_079080	Q96BR6	ZN669_HUMAN	zinc finger protein 669 isoform 1	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			GTTTCTCTCCGGTATGAGTAC	0.428												
OR2G2	81470	broad.mit.edu	37	1	247751729	247751729	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:247751729A>G	uc010pyy.1	+	1	68	c.68A>G	c.(67-69)TAT>TGT	p.Y23C		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	23	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTTTCTGATTATCCTCAGTTA	0.418												
OR2G2	81470	broad.mit.edu	37	1	247752185	247752185	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:247752185G>A	uc010pyy.1	+	1	524	c.524G>A	c.(523-525)CGC>CAC	p.R175H		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	175	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGTGGGCATCGCCAAGTGGAT	0.552												
OR14A16	284532	broad.mit.edu	37	1	247978944	247978944	+	Silent	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:247978944A>G	uc001idm.1	-	1	88	c.88T>C	c.(88-90)TTG>CTG	p.L30L		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TAAATCAACAAGAAGAGAATC	0.383												
OR2L2	26246	broad.mit.edu	37	1	248202164	248202164	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:248202164T>G	uc001idw.2	+	1	691	c.595T>G	c.(595-597)TTT>GTT	p.F199V	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	199	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(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;0.0278)			GAGCACAGTGTTTTTGAGCAG	0.483												
OR2T4	127074	broad.mit.edu	37	1	248525492	248525492	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:248525492C>T	uc001ieh.1	+	1	610	c.610C>T	c.(610-612)CGG>TGG	p.R204W		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	204	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCGTGGATCCCGGGAGATTCA	0.498												
OR2T1	26696	broad.mit.edu	37	1	248569368	248569368	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:248569368C>T	uc010pzm.1	+	1	73	c.73C>T	c.(73-75)CAT>TAT	p.H25Y		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	25	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AATTAATTCACATGTTGTTAT	0.333												
UCMA	221044	broad.mit.edu	37	10	13276240	13276240	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:13276240C>T	uc001imd.2	-	1	92	c.19G>A	c.(19-21)GTC>ATC	p.V7I		NM_145314	NP_660357	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix	7						proteinaceous extracellular matrix					0						GACAGCAGGACGGCCTGTCTC	0.582												
KIAA1217	56243	broad.mit.edu	37	10	24833185	24833185	+	Silent	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:24833185C>A	uc001iru.3	+	19	5389	c.4986C>A	c.(4984-4986)ACC>ACA	p.T1662T	KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Intron|KIAA1217_uc010qcz.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Silent_p.T1345T|KIAA1217_uc001iry.2_Intron|KIAA1217_uc001isa.1_Silent_p.T498T	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1662	Potential.				embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						GAAAAAACACCTACAGAACAT	0.438												
LYZL2	119180	broad.mit.edu	37	10	30900913	30900913	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:30900913C>T	uc001ivk.2	-	5	569	c.556G>A	c.(556-558)GAC>AAC	p.D186N		NM_183058	NP_898881	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	140					cell wall macromolecule catabolic process	extracellular region	lysozyme activity				0		Prostate(175;0.151)				TTTTTCCAGTCGGACAGGTCT	0.522												
ARHGAP12	94134	broad.mit.edu	37	10	32150382	32150382	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:32150382G>A	uc001ivz.1	-	4	1159	c.889C>T	c.(889-891)CGT>TGT	p.R297C	ARHGAP12_uc001ivy.1_Missense_Mutation_p.R295C|ARHGAP12_uc009xls.2_Missense_Mutation_p.R295C|ARHGAP12_uc001iwb.1_Missense_Mutation_p.R295C|ARHGAP12_uc001iwc.1_Missense_Mutation_p.R295C|ARHGAP12_uc009xlq.1_Missense_Mutation_p.R295C|ARHGAP12_uc001iwd.1_Missense_Mutation_p.R295C|ARHGAP12_uc009xlr.1_Missense_Mutation_p.R295C	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	297	WW 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0		Prostate(175;0.0199)				CGAGTCCAACGAGGAGGTTTC	0.428												
KIF5B	3799	broad.mit.edu	37	10	32329381	32329381	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:32329381T>C	uc001iwe.3	-	3	689	c.219A>G	c.(217-219)GTA>GTG	p.V73V		NM_004521	NP_004512	P33176	KINH_HUMAN	kinesin family member 5B	73	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(4)	lung(4)|ovary(1)	5		Prostate(175;0.0137)				ATCCTTCAAGTACATCTATGA	0.348												
C10orf68	79741	broad.mit.edu	37	10	33094009	33094009	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:33094009A>G	uc001iwn.3	+	11	1366	c.893A>G	c.(892-894)CAG>CGG	p.Q298R	C10orf68_uc001iwl.1_Intron|C10orf68_uc001iwm.1_Missense_Mutation_p.Q274R|C10orf68_uc010qei.1_Missense_Mutation_p.Q246R|C10orf68_uc001iwo.3_RNA	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	298										skin(2)|ovary(1)	3						TTCAAGACACAGTCAAAGAGT	0.313												
ITGB1	3688	broad.mit.edu	37	10	33208930	33208930	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:33208930G>A	uc001iws.3	-	11	1488	c.1352C>T	c.(1351-1353)ACG>ATG	p.T451M	ITGB1_uc001iwp.3_Missense_Mutation_p.T451M|ITGB1_uc001iwq.3_Missense_Mutation_p.T451M|ITGB1_uc001iwr.3_Missense_Mutation_p.T451M|ITGB1_uc001iwt.3_Missense_Mutation_p.T451M|ITGB1_uc001iwu.1_Missense_Mutation_p.T451M	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	451	Extracellular (Potential).				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TACTTCCTCCGTAAAGCCCAG	0.388												
ZNF33B	7582	broad.mit.edu	37	10	43088290	43088290	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:43088290C>T	uc001jaf.1	-	5	2223	c.2108G>A	c.(2107-2109)AGT>AAT	p.S703N	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.S591N|ZNF33B_uc001jad.2_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	703	C2H2-type 14.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TGATTTGTGACTGAAGGATTT	0.403												
ZNF33B	7582	broad.mit.edu	37	10	43089580	43089580	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:43089580C>T	uc001jaf.1	-	5	933	c.818G>A	c.(817-819)AGT>AAT	p.S273N	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.S161N|ZNF33B_uc001jad.2_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	zinc finger protein 33B	273						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TTCATAGTGACTGTCCTTTGA	0.388												
C10orf10	11067	broad.mit.edu	37	10	45472929	45472929	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:45472929C>T	uc001jbr.3	-	2	840	c.550G>A	c.(550-552)GCC>ACC	p.A184T	RASSF4_uc001jbo.2_Intron|RASSF4_uc001jbp.2_Intron|RASSF4_uc009xmn.2_Intron|RASSF4_uc001jbq.2_Intron	NM_007021	NP_008952	Q9NTK1	DEPP_HUMAN	fasting-induced protein	184						mitochondrion					0						ATGGCTTGGGCAGACTGCCCA	0.632												
GDF2	2658	broad.mit.edu	37	10	48414152	48414152	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:48414152G>A	uc001jfa.1	-	2	879	c.716C>T	c.(715-717)ACG>ATG	p.T239M		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	growth differentiation factor 2 precursor	239					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(2)|skin(1)	3						GATGTCCAGCGTGTCGCAGCC	0.582												
PCDH15	65217	broad.mit.edu	37	10	55996585	55996585	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:55996585A>T	uc001jju.1	-	9	1378	c.983T>A	c.(982-984)GTT>GAT	p.V328D	PCDH15_uc010qhq.1_Missense_Mutation_p.V333D|PCDH15_uc010qhr.1_Missense_Mutation_p.V328D|PCDH15_uc010qhs.1_Missense_Mutation_p.V333D|PCDH15_uc010qht.1_Missense_Mutation_p.V328D|PCDH15_uc010qhu.1_Missense_Mutation_p.V328D|PCDH15_uc001jjv.1_Missense_Mutation_p.V306D|PCDH15_uc010qhv.1_Missense_Mutation_p.V328D|PCDH15_uc010qhw.1_Missense_Mutation_p.V291D|PCDH15_uc010qhx.1_Missense_Mutation_p.V328D|PCDH15_uc010qhy.1_Missense_Mutation_p.V333D|PCDH15_uc010qhz.1_Missense_Mutation_p.V328D|PCDH15_uc010qia.1_Missense_Mutation_p.V306D|PCDH15_uc010qib.1_Missense_Mutation_p.V306D|PCDH15_uc001jjw.2_Missense_Mutation_p.V328D	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	328	Cadherin 3.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				ATACAAACCAACAAGGATGGA	0.363										HNSCC(58;0.16)		
ZWINT	11130	broad.mit.edu	37	10	58118436	58118436	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:58118436A>T	uc001jjx.1	-	7	710	c.673T>A	c.(673-675)TTC>ATC	p.F225I	ZWINT_uc001jjy.1_Missense_Mutation_p.F178I|ZWINT_uc001jka.1_Missense_Mutation_p.F225I|ZWINT_uc009xoy.1_RNA	NM_007057	NP_008988	O95229	ZWINT_HUMAN	ZW10 interactor isoform a	225					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding				0						GCCTCAGGGAACAACAGCTTA	0.522												
ZWINT	11130	broad.mit.edu	37	10	58118660	58118660	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:58118660G>A	uc001jjx.1	-	6	566	c.529C>T	c.(529-531)CGT>TGT	p.R177C	ZWINT_uc001jjy.1_Intron|ZWINT_uc001jka.1_Missense_Mutation_p.R177C|ZWINT_uc009xoy.1_RNA	NM_007057	NP_008988	O95229	ZWINT_HUMAN	ZW10 interactor isoform a	177	Potential.				cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding				0						CCTGTCTTACGCTCCCTCACC	0.522												
ANK3	288	broad.mit.edu	37	10	61846455	61846455	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:61846455C>T	uc001jky.2	-	30	3920	c.3728G>A	c.(3727-3729)CGT>CAT	p.R1243H	ANK3_uc001jkw.2_Missense_Mutation_p.R377H|ANK3_uc009xpa.2_Missense_Mutation_p.R377H|ANK3_uc001jkx.2_Missense_Mutation_p.R421H|ANK3_uc010qih.1_Missense_Mutation_p.R1244H|ANK3_uc001jkz.3_Missense_Mutation_p.R1237H|ANK3_uc001jla.1_Missense_Mutation_p.R309H|ANK3_uc001jlb.1_Missense_Mutation_p.R761H	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1243					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						ACAGAGAAGACGCAGATTGGG	0.418												
EGR2	1959	broad.mit.edu	37	10	64573145	64573145	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:64573145T>G	uc010qim.1	-	3	1407	c.1253A>C	c.(1252-1254)AAG>ACG	p.K418T	EGR2_uc010qin.1_Missense_Mutation_p.K368T|EGR2_uc001jmi.2_Missense_Mutation_p.K418T|EGR2_uc010qio.1_Missense_Mutation_p.K431T|EGR2_uc009xph.2_Missense_Mutation_p.K418T	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	418	C2H2-type 3.				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					CAGGTGGATCTTGGTGTGGCG	0.622												
HERC4	26091	broad.mit.edu	37	10	69785320	69785320	+	Silent	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:69785320A>G	uc001jng.3	-	8	1202	c.891T>C	c.(889-891)ACT>ACC	p.T297T	HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Silent_p.T297T|HERC4_uc009xpr.2_Silent_p.T297T|HERC4_uc001jni.3_Silent_p.T41T|HERC4_uc001jnj.2_Silent_p.T297T	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	hect domain and RLD 4 isoform a	297	RCC1 6.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			ovary(1)|breast(1)|skin(1)	3						AAGCAATCTCAGTGACAATGC	0.393												
KIAA1274	27143	broad.mit.edu	37	10	72298102	72298102	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:72298102C>T	uc001jrd.3	+	12	1671	c.1390C>T	c.(1390-1392)CCC>TCC	p.P464S	KIAA1274_uc001jre.3_5'Flank	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	464										ovary(2)|central_nervous_system(1)	3						GTACCGCCTGCCCGTGACGCT	0.647												
OIT3	170392	broad.mit.edu	37	10	74684343	74684343	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:74684343C>T	uc001jte.1	+	7	1526	c.1308C>T	c.(1306-1308)TGC>TGT	p.C436C	OIT3_uc009xqs.1_Intron	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	oncoprotein-induced transcript 3 precursor	436	ZP.					nuclear envelope	calcium ion binding			ovary(2)	2	Prostate(51;0.0198)					TGGAGAGCTGCTTTGCCACCC	0.567												
TTC18	118491	broad.mit.edu	37	10	75051761	75051761	+	Silent	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:75051761A>G	uc009xrc.2	-	18	2113	c.1992T>C	c.(1990-1992)CGT>CGC	p.R664R	TTC18_uc001jty.2_Silent_p.R664R|TTC18_uc001jtv.3_5'Flank|TTC18_uc001jtw.3_5'Flank|TTC18_uc001jtx.2_Silent_p.R45R	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	664	TPR 1.						binding			ovary(2)|central_nervous_system(1)	3	Prostate(51;0.0119)					TCTGGGGCTCACGGACCAATC	0.428												
MYOZ1	58529	broad.mit.edu	37	10	75394400	75394400	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:75394400C>T	uc001jur.2	-	4	709	c.344G>A	c.(343-345)GGC>GAC	p.G115D		NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN	myozenin 1	115	Gly-rich.				myofibril assembly	nucleus|pseudopodium	FATZ binding			ovary(2)	2	Prostate(51;0.0112)					TGCCTGGCTGCCGCCTCTGCC	0.612												
KCNMA1	3778	broad.mit.edu	37	10	78651329	78651329	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:78651329C>T	uc001jxn.2	-	26	3473	c.3296G>A	c.(3295-3297)CGC>CAC	p.R1099H	KCNMA1_uc001jxj.2_Missense_Mutation_p.R1045H|KCNMA1_uc001jxk.1_Missense_Mutation_p.R717H|KCNMA1_uc009xrt.1_Missense_Mutation_p.R890H|KCNMA1_uc001jxl.1_Missense_Mutation_p.R724H|KCNMA1_uc001jxo.2_Missense_Mutation_p.R1082H|KCNMA1_uc001jxm.2_Missense_Mutation_p.R1041H|KCNMA1_uc001jxq.2_Missense_Mutation_p.R1071H|uc001jxp.2_Intron	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	1099	Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CTGGGCCACGCGGCAGCGGTC	0.607												
KCNMA1	3778	broad.mit.edu	37	10	78846314	78846314	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:78846314G>A	uc001jxn.2	-	11	1549	c.1372C>T	c.(1372-1374)CGA>TGA	p.R458*	KCNMA1_uc001jxj.2_Nonsense_Mutation_p.R458*|KCNMA1_uc001jxk.1_Nonsense_Mutation_p.R73*|KCNMA1_uc009xrt.1_Nonsense_Mutation_p.R278*|KCNMA1_uc001jxl.1_Nonsense_Mutation_p.R112*|KCNMA1_uc001jxo.2_Nonsense_Mutation_p.R458*|KCNMA1_uc001jxm.2_Nonsense_Mutation_p.R458*|KCNMA1_uc001jxq.2_Nonsense_Mutation_p.R458*	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	458	RCK N-terminal.|Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GTAAAATGTCGTTTGAACAGA	0.458												
ZMIZ1	57178	broad.mit.edu	37	10	81056357	81056357	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:81056357C>T	uc001kaf.2	+	13	1932	c.1360C>T	c.(1360-1362)CCG>TCG	p.P454S	ZMIZ1_uc001kag.2_Missense_Mutation_p.P330S|ZMIZ1_uc001kah.1_3'UTR	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	454	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GCCCAGCCAGCCGAGCTCCGG	0.672												
WAPAL	23063	broad.mit.edu	37	10	88260130	88260130	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:88260130T>C	uc001kdo.2	-	3	1312	c.870A>G	c.(868-870)CCA>CCG	p.P290P	WAPAL_uc001kdn.2_Silent_p.P333P|WAPAL_uc009xsw.2_Silent_p.P290P	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog	290	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						TACAGTTGGTTGGCCTAAGAA	0.428												
KIF20B	9585	broad.mit.edu	37	10	91477457	91477457	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:91477457T>C	uc001kgs.1	+	11	1321	c.1249T>C	c.(1249-1251)TTG>CTG	p.L417L	KIF20B_uc001kgr.1_Silent_p.L417L	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	417					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)|skin(1)	3						TATTAACGTCTTGAAGAATAG	0.299												
TNKS2	80351	broad.mit.edu	37	10	93608141	93608141	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:93608141C>T	uc001khp.2	+	19	2657	c.2360C>T	c.(2359-2361)GCG>GTG	p.A787V		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	787					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			kidney(3)|skin(3)|ovary(1)|lung(1)	8		Colorectal(252;0.162)				GTACCCTAGGCGGATGATGTC	0.443												
BTAF1	9044	broad.mit.edu	37	10	93773501	93773501	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:93773501T>C	uc001khr.2	+	31	4487	c.4389T>C	c.(4387-4389)GCT>GCC	p.A1463A		NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	1463					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0846)				AGTTTGCTGCTCGATATGGTA	0.413												
PLCE1	51196	broad.mit.edu	37	10	96066371	96066371	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:96066371G>A	uc001kjk.2	+	26	6444	c.5810G>A	c.(5809-5811)CGT>CAT	p.R1937H	PLCE1_uc010qnx.1_Missense_Mutation_p.R1921H|PLCE1_uc001kjm.2_Missense_Mutation_p.R1629H|PLCE1_uc001kjp.2_Missense_Mutation_p.R295H	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	1937	C2.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				GTATTTCTTCGTTTTGCAGTT	0.383												
SORBS1	10580	broad.mit.edu	37	10	97174285	97174285	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:97174285G>A	uc001kkp.2	-	7	821	c.776C>T	c.(775-777)TCG>TTG	p.S259L	SORBS1_uc001kkl.2_5'UTR|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Missense_Mutation_p.S259L|SORBS1_uc001kkq.2_Missense_Mutation_p.S190L|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Missense_Mutation_p.S227L|SORBS1_uc001kkw.2_Missense_Mutation_p.S259L|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Missense_Mutation_p.S457L|SORBS1_uc001kkx.1_Missense_Mutation_p.S227L	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	259					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)		GTCAGGCTCCGAGACTCTGCG	0.622												
CHUK	1147	broad.mit.edu	37	10	101950684	101950684	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:101950684A>C	uc001kqp.2	-	20	2205	c.2150T>G	c.(2149-2151)CTT>CGT	p.L717R		NM_001278	NP_001269	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	717					I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|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|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1)	7		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		TAAATGGCCAAGGCAGTTCAA	0.403												
PPRC1	23082	broad.mit.edu	37	10	103899446	103899446	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:103899446T>C	uc001kum.2	+	5	1220	c.1181T>C	c.(1180-1182)CTG>CCG	p.L394P	PPRC1_uc001kun.2_Missense_Mutation_p.L274P|PPRC1_uc010qqj.1_Missense_Mutation_p.L394P|PPRC1_uc009xxa.2_RNA	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		ATGCCTACACTGGAGTCAGAG	0.557												
PSD	5662	broad.mit.edu	37	10	104170668	104170668	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:104170668C>T	uc001kvg.1	-	10	2565	c.2038G>A	c.(2038-2040)GGG>AGG	p.G680R	PSD_uc001kvf.1_5'Flank|PSD_uc001kvh.1_Missense_Mutation_p.G301R|PSD_uc009xxd.1_Missense_Mutation_p.G680R	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	680	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TCCAGGTTCCCGATGAAGTCC	0.632												
MXI1	4601	broad.mit.edu	37	10	112039826	112039826	+	Missense_Mutation	SNP	G	G	A	rs140539151	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:112039826G>A	uc001kza.2	+	5	713	c.506G>A	c.(505-507)CGT>CAT	p.R169H	MXI1_uc001kyy.2_Missense_Mutation_p.R236H|MXI1_uc001kyz.2_Missense_Mutation_p.R123H|MXI1_uc010qrc.1_Missense_Mutation_p.R159H|MXI1_uc009xxu.2_Missense_Mutation_p.R166H|MXI1_uc009xxv.2_RNA	NM_005962	NP_005953	P50539	MXI1_HUMAN	MAX interactor 1 isoform a	169					cytoplasmic sequestering of transcription factor|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity				0		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TCTTCAGATCGTTCTGATTCA	0.443												
SMC3	9126	broad.mit.edu	37	10	112356237	112356237	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:112356237T>C	uc001kze.2	+	19	2171	c.2045T>C	c.(2044-2046)GTT>GCT	p.V682A		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	682	Potential.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		CAAAAAGATGTTAGAAAAGCA	0.378												
VTI1A	143187	broad.mit.edu	37	10	114428721	114428721	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:114428721G>A	uc001kzy.2	+	7	900	c.524G>A	c.(523-525)GGA>GAA	p.G175E	VTI1A_uc001kzz.2_Missense_Mutation_p.G175E	NM_145206	NP_660207	Q96AJ9	VTI1A_HUMAN	SNARE Vti1a-beta protein	175	Potential.				intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity			ovary(1)	1		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		GCTAATTTGGGAAAAAGCTCC	0.363												
CASP7	840	broad.mit.edu	37	10	115489196	115489196	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:115489196C>T	uc001lan.2	+	7	983	c.809C>T	c.(808-810)GCC>GTC	p.A270V	CASP7_uc001lam.2_3'UTR|CASP7_uc001lao.2_Missense_Mutation_p.A303V|CASP7_uc001lap.2_Missense_Mutation_p.A270V|CASP7_uc001laq.2_Missense_Mutation_p.A270V|CASP7_uc010qsa.1_Missense_Mutation_p.A355V|CASP7_uc010qsb.1_Missense_Mutation_p.A245V	NM_033339	NP_203125	P55210	CASP7_HUMAN	caspase 7 isoform alpha	270					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			ovary(1)	1		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		GACAGAGTTGCCAGGCACTTT	0.522												
EIF3A	8661	broad.mit.edu	37	10	120810113	120810113	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:120810113C>T	uc001ldu.2	-	16	2539	c.2393G>A	c.(2392-2394)CGT>CAT	p.R798H	EIF3A_uc010qsu.1_Missense_Mutation_p.R764H|EIF3A_uc009xzg.1_5'Flank	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3,	798	Interaction with EIF3B.|Glu-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TTCTTCTTTACGCTGCCTTTT	0.418												
INPP5F	22876	broad.mit.edu	37	10	121551118	121551118	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:121551118G>A	uc001leo.2	+	4	571	c.405G>A	c.(403-405)ACG>ACA	p.T135T	INPP5F_uc001len.3_Silent_p.T135T	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	135							phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AGACCTTTACGCATATTAAAT	0.318												
TACC2	10579	broad.mit.edu	37	10	123845448	123845448	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:123845448C>T	uc001lfv.2	+	4	3793	c.3433C>T	c.(3433-3435)CAG>TAG	p.Q1145*	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Nonsense_Mutation_p.Q1145*|TACC2_uc010qtv.1_Nonsense_Mutation_p.Q1145*	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	1145						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGGAAAGCAGCAGGCTCCGGA	0.587												
PLEKHA1	59338	broad.mit.edu	37	10	124159891	124159891	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:124159891G>A	uc001lge.1	+	4	354	c.231G>A	c.(229-231)GCG>GCA	p.A77A	PLEKHA1_uc001lgf.1_Silent_p.A77A|PLEKHA1_uc001lgg.1_Silent_p.A77A|PLEKHA1_uc001lgh.2_Silent_p.A77A	NM_001001974	NP_001001974	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A	77	PH 1.				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			kidney(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGCCAAAGGCGGAGTTCTGTT	0.328												
CPXM2	119587	broad.mit.edu	37	10	125539757	125539757	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:125539757A>G	uc001lhk.1	-	7	1229	c.904T>C	c.(904-906)TAT>CAT	p.Y302H	CPXM2_uc001lhj.2_RNA	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	302					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGGCGGTGATAATAATTATTA	0.453												
LHPP	64077	broad.mit.edu	37	10	126185528	126185528	+	Splice_Site	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:126185528A>G	uc001lhs.1	+	4	488	c.468_splice	c.e4-2	p.G156_splice	LHPP_uc001lht.1_Splice_Site_p.G156_splice|LHPP_uc009yai.1_Intron	NM_022126	NP_071409	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic						protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity				0		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		GCTCTCTCCTAGGCGTTACTA	0.602												
CLRN3	119467	broad.mit.edu	37	10	129676547	129676547	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:129676547G>A	uc001lka.1	-	3	710	c.547C>T	c.(547-549)CTC>TTC	p.L183F	CLRN3_uc001ljz.1_Missense_Mutation_p.L115F	NM_152311	NP_689524	Q8NCR9	CLRN3_HUMAN	clarin 3	183	Helical; (Potential).					integral to membrane				skin(1)	1		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				AGCAGTATGAGCCAGAACGAG	0.473												
KNDC1	85442	broad.mit.edu	37	10	135015099	135015099	+	Silent	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:135015099A>G	uc001llz.1	+	17	3085	c.3084A>G	c.(3082-3084)GGA>GGG	p.G1028G	KNDC1_uc001lma.1_Silent_p.G963G|KNDC1_uc001lmb.1_Silent_p.G440G	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1028					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TGTCACGGGGAAACTTCGAGG	0.647												
TOLLIP	54472	broad.mit.edu	37	11	1311572	1311572	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:1311572G>A	uc001lte.2	-	3	362	c.251C>T	c.(250-252)GCG>GTG	p.A84V	TOLLIP_uc001ltd.2_Missense_Mutation_p.A15V|TOLLIP_uc009ycu.2_Intron|TOLLIP_uc001ltf.2_Missense_Mutation_p.A34V	NM_019009	NP_061882	Q9H0E2	TOLIP_HUMAN	toll interacting protein	84	C2.				cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding				0		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		CTCGTACACCGCGTAGCCCAG	0.587												
TSSC4	10078	broad.mit.edu	37	11	2424091	2424091	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:2424091G>A	uc001lwj.2	+	4	589	c.228G>A	c.(226-228)ACG>ACA	p.T76T	TSSC4_uc001lwi.2_Silent_p.T12T|TSSC4_uc001lwk.2_Silent_p.T76T|TSSC4_uc001lwl.2_Silent_p.T76T	NM_005706	NP_005697	Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	76											0		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCCAGCCACGGTGCAGCCAT	0.652												
NUP98	4928	broad.mit.edu	37	11	3697439	3697439	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:3697439G>A	uc001lyh.2	-	33	5644	c.5353C>T	c.(5353-5355)CGC>TGC	p.R1785C	NUP98_uc001lyi.2_Missense_Mutation_p.R1711C|NUP98_uc001lyg.2_Missense_Mutation_p.R750C	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1802					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)		GTAAGGCTGCGCAGTTCGTCC	0.592			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML							
OR52M1	119772	broad.mit.edu	37	11	4566596	4566596	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:4566596A>C	uc010qyf.1	+	1	176	c.176A>C	c.(175-177)CAG>CCG	p.Q59P		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M,	59	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCCTGCACCAGCCCATGTAC	0.522												
OR52R1	119695	broad.mit.edu	37	11	4825712	4825712	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:4825712C>T	uc010qym.1	-	1	136	c.136G>A	c.(136-138)GTC>ATC	p.V46I		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R,	Error:Variant_position_missing_in_Q8NGF1_after_alignment					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGATGGGACTATTGGATAC	0.328												
OR51G1	79324	broad.mit.edu	37	11	4945416	4945416	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:4945416A>G	uc010qyr.1	-	1	154	c.154T>C	c.(154-156)TGT>CGT	p.C52R		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G,	52	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCATCAGTACAAATGACGTGG	0.502												
MMP26	56547	broad.mit.edu	37	11	5011865	5011865	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:5011865G>C	uc001lzv.2	+	3	376	c.358G>C	c.(358-360)GTG>CTG	p.V120L		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	matrix metalloproteinase 26 preproprotein	120					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCCATCCGCAGTGAAAGACAG	0.393												
OR52D1	390066	broad.mit.edu	37	11	5510494	5510494	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:5510494C>T	uc010qzg.1	+	1	558	c.558C>T	c.(556-558)GGC>GGT	p.G186G	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D,	186	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;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCATATGGGCATTGCCCGAC	0.517												
OR52E8	390079	broad.mit.edu	37	11	5878343	5878343	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:5878343C>T	uc010qzr.1	-	1	590	c.590G>A	c.(589-591)AGC>AAC	p.S197N	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E,	197	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACTTTGATGCTGGCACAGGC	0.478												
FAM160A2	84067	broad.mit.edu	37	11	6244441	6244441	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:6244441A>G	uc001mcl.3	-	4	1164	c.805T>C	c.(805-807)TAC>CAC	p.Y269H	FAM160A2_uc001mck.3_Missense_Mutation_p.Y269H|FAM160A2_uc001mcm.2_Missense_Mutation_p.Y269H	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 2	269					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2						AGTGATGAGTACAGGGCACTG	0.473												
TPP1	1200	broad.mit.edu	37	11	6638276	6638276	+	Missense_Mutation	SNP	C	C	T	rs121908209		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:6638276C>T	uc001mel.1	-	6	678	c.617G>A	c.(616-618)CGT>CAT	p.R206H	TPP1_uc001mek.1_5'UTR|TPP1_uc010rar.1_3'UTR	NM_000391	NP_000382	O14773	TPP1_HUMAN	tripeptidyl-peptidase I preproprotein	206					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		GTATCGCTTACGGATCACAGA	0.592												
IPO7	10527	broad.mit.edu	37	11	9430059	9430059	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:9430059A>G	uc001mho.2	+	3	335	c.193A>G	c.(193-195)ACA>GCA	p.T65A		NM_006391	NP_006382	O95373	IPO7_HUMAN	importin 7	65	Importin N-terminal.				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)		AAATATGATAACACAGTATTG	0.368												
MICAL2	9645	broad.mit.edu	37	11	12281433	12281433	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:12281433G>A	uc001mjz.2	+	26	3611	c.3323G>A	c.(3322-3324)GGC>GAC	p.G1108D	MICAL2_uc010rch.1_Missense_Mutation_p.G918D|MICAL2_uc001mka.2_Missense_Mutation_p.G1108D|MICAL2_uc010rci.1_Missense_Mutation_p.G1087D|MICAL2_uc001mkb.2_Missense_Mutation_p.G882D|MICAL2_uc001mkc.2_Missense_Mutation_p.G861D|MICAL2_uc001mkd.2_Missense_Mutation_p.G690D|MICAL2_uc010rcj.1_Missense_Mutation_p.G320D|MICAL2_uc001mkf.2_RNA	NM_014632	NP_055447	O94851	MICA2_HUMAN	microtubule associated monoxygenase, calponin	1108						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			upper_aerodigestive_tract(2)	2				Epithelial(150;0.00552)		ACCCTGGAAGGCAGCCCCCCA	0.612												
NAV2	89797	broad.mit.edu	37	11	19955107	19955107	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:19955107C>T	uc010rdm.1	+	8	1747	c.1386C>T	c.(1384-1386)AGC>AGT	p.S462S	NAV2_uc001mpp.2_Silent_p.S375S|NAV2_uc001mpr.3_Silent_p.S439S	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	462						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						TCGAAGAGAGCGAGGAGCTGG	0.617												
BBOX1	8424	broad.mit.edu	37	11	27114773	27114773	+	Silent	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:27114773A>G	uc001mre.1	+	5	761	c.393A>G	c.(391-393)TTA>TTG	p.L131L	BBOX1_uc009yih.1_Silent_p.L131L|BBOX1_uc001mrg.1_Silent_p.L131L	NM_003986	NP_003977	O75936	BODG_HUMAN	gamma-butyrobetaine dioxygenase	131					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1					Succinic acid(DB00139)|Vitamin C(DB00126)	AAGATGTTTTAAGATATGATG	0.418												
QSER1	79832	broad.mit.edu	37	11	32953671	32953671	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:32953671G>A	uc001mty.2	+	4	747	c.480G>A	c.(478-480)CAG>CAA	p.Q160Q	QSER1_uc001mtz.1_Silent_p.Q160Q|QSER1_uc001mua.2_5'Flank	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	160	Ser-rich.									ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					GGGGATCCCAGCAGACTCCTC	0.448												
CAPRIN1	4076	broad.mit.edu	37	11	34093453	34093453	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:34093453C>T	uc001mvh.1	+	4	474	c.285C>T	c.(283-285)GCC>GCT	p.A95A	CAPRIN1_uc001mvg.2_Silent_p.A95A|CAPRIN1_uc001mvi.2_Silent_p.A95A|CAPRIN1_uc001mvj.1_Silent_p.A14A	NM_005898	NP_005889	Q14444	CAPR1_HUMAN	membrane component chromosome 11 surface marker	95					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				TTTAGGATGCCGTTTCTAAGT	0.313												
CAT	847	broad.mit.edu	37	11	34478308	34478308	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:34478308T>G	uc001mvm.2	+	8	1083	c.1000T>G	c.(1000-1002)TTC>GTC	p.F334V	CAT_uc009ykc.1_RNA	NM_001752	NP_001743	P04040	CATA_HUMAN	catalase	334					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			ovary(2)|pancreas(1)	3		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	ACAGATAGCCTTCGACCCAAG	0.498												
SLC1A2	6506	broad.mit.edu	37	11	35336618	35336618	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:35336618T>C	uc001mwd.2	-	3	854	c.262A>G	c.(262-264)ATG>GTG	p.M88V	SLC1A2_uc001mwe.2_Missense_Mutation_p.M79V|SLC1A2_uc010rev.1_Missense_Mutation_p.M88V	NM_004171	NP_004162	P43004	EAA2_HUMAN	excitatory amino acid transporter 2	88	Helical; (Potential).				D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			ovary(2)|central_nervous_system(1)	3	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	ATTTTTAGCATCCTCATGAGT	0.498												
CHST1	8534	broad.mit.edu	37	11	45672299	45672299	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:45672299G>A	uc001mys.1	-	4	846	c.175C>T	c.(175-177)CGC>TGC	p.R59C		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	59	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)		TGGGTCTTGCGGGAGAGGTTG	0.647												
HARBI1	283254	broad.mit.edu	37	11	46637860	46637860	+	Translation_Start_Site	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:46637860G>A	uc001ncy.2	-	2	176	c.-72C>T	c.(-74--70)TACGT>TATGT		KIAA0652_uc009yld.2_5'Flank|KIAA0652_uc001nda.2_5'Flank|KIAA0652_uc001ndb.2_5'Flank|KIAA0652_uc001ncz.2_5'Flank|KIAA0652_uc001ndc.2_5'Flank|KIAA0652_uc010rgv.1_5'Flank	NM_173811	NP_776172	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1							cytoplasm|nucleus	metal ion binding|nuclease activity				0						GTGCAAGAACGTATTTTTAAG	0.358												
F2	2147	broad.mit.edu	37	11	46741326	46741326	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:46741326C>T	uc001ndf.3	+	2	197	c.154C>T	c.(154-156)CGC>TGC	p.R52C	F2_uc001ndg.3_RNA	NM_000506	NP_000497	P00734	THRB_HUMAN	coagulation factor II preproprotein	52	Gla.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			ovary(3)	3		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GGAGGAGGTGCGCAAGGGCAA	0.662												
OR5W2	390148	broad.mit.edu	37	11	55681486	55681486	+	Silent	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:55681486A>G	uc010rir.1	-	1	573	c.573T>C	c.(571-573)GAT>GAC	p.D191D		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W,	191	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TGACCTGTGTATCTGAGCGAG	0.383												
OR5F1	338674	broad.mit.edu	37	11	55761559	55761559	+	Silent	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:55761559A>G	uc010riv.1	-	1	543	c.543T>C	c.(541-543)AGT>AGC	p.S181S		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	181	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					AAAGTGGGGGACTGTCACAGA	0.453												
LRRC55	219527	broad.mit.edu	37	11	56949628	56949628	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:56949628C>T	uc001njl.1	+	1	408	c.261C>T	c.(259-261)TGC>TGT	p.C87C		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	57	LRRNT.					integral to membrane					0						TTTGCACATGCCGTAACCAGG	0.637												
SLC43A3	29015	broad.mit.edu	37	11	57182520	57182520	+	Missense_Mutation	SNP	G	G	A	rs149977311	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:57182520G>A	uc001nkg.2	-	10	1239	c.829C>T	c.(829-831)CGG>TGG	p.R277W	PRG2_uc001nke.2_Missense_Mutation_p.R176W|SLC43A3_uc001nkh.2_Missense_Mutation_p.R277W|SLC43A3_uc010rjr.1_Missense_Mutation_p.R290W|SLC43A3_uc009yme.2_Missense_Mutation_p.R277W|SLC43A3_uc001nki.2_Missense_Mutation_p.R277W|SLC43A3_uc009ymf.1_Missense_Mutation_p.R277W	NM_014096	NP_054815	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	277					transmembrane transport	integral to membrane				central_nervous_system(1)	1						GCAAAGCGCCGAGAGAAAGCG	0.572												
CTNND1	1500	broad.mit.edu	37	11	57563079	57563079	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:57563079C>A	uc001nmc.3	+	5	869	c.298C>A	c.(298-300)CCC>ACC	p.P100T	CTNND1_uc001nlf.1_Missense_Mutation_p.P100T|CTNND1_uc001nlh.1_Missense_Mutation_p.P100T|CTNND1_uc001nlu.3_5'UTR|CTNND1_uc001nlt.3_5'UTR|CTNND1_uc001nls.3_5'UTR|CTNND1_uc001nlw.3_5'UTR|CTNND1_uc001nmf.3_Missense_Mutation_p.P100T|CTNND1_uc001nmd.3_Missense_Mutation_p.P46T|CTNND1_uc001nlk.3_Missense_Mutation_p.P46T|CTNND1_uc001nme.3_Missense_Mutation_p.P100T|CTNND1_uc001nll.3_Missense_Mutation_p.P46T|CTNND1_uc001nmg.3_Missense_Mutation_p.P46T|CTNND1_uc001nlj.3_Missense_Mutation_p.P46T|CTNND1_uc001nlr.3_Missense_Mutation_p.P46T|CTNND1_uc001nlp.3_Missense_Mutation_p.P46T|CTNND1_uc001nlx.3_Intron|CTNND1_uc001nlz.3_Intron|CTNND1_uc009ymn.2_Intron|CTNND1_uc001nlm.3_Missense_Mutation_p.P100T|CTNND1_uc001nly.3_Intron|CTNND1_uc001nmb.3_Intron|CTNND1_uc001nma.3_Intron|CTNND1_uc001nmi.3_5'UTR|CTNND1_uc001nmh.3_Missense_Mutation_p.P100T|CTNND1_uc001nlq.3_5'UTR|CTNND1_uc001nln.3_Missense_Mutation_p.P100T|CTNND1_uc001nli.3_Missense_Mutation_p.P100T|CTNND1_uc001nlo.3_5'UTR|CTNND1_uc001nlv.3_5'UTR	NM_001085458	NP_001078927	O60716	CTND1_HUMAN	catenin, delta 1 isoform 1ABC	100					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)				TAGCACCATCCCCAGGATGCA	0.468												
OR5B12	390191	broad.mit.edu	37	11	58206945	58206945	+	Missense_Mutation	SNP	C	C	T	rs139365126		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:58206945C>T	uc010rkh.1	-	1	680	c.680G>A	c.(679-681)CGC>CAC	p.R227H		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B,	227	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TTCAGGTGAGCGCATCTTCAT	0.403												
FAM111B	374393	broad.mit.edu	37	11	58891683	58891683	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:58891683C>T	uc001nnl.2	+	4	356	c.113C>T	c.(112-114)ACA>ATA	p.T38I	FAM111B_uc001nnm.2_Missense_Mutation_p.T8I|FAM111B_uc010rko.1_Missense_Mutation_p.T8I	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN	hypothetical protein LOC374393 isoform a	38							catalytic activity			ovary(2)	2						CATGCTGACACACCTGTTGAT	0.343												
OR5A2	219981	broad.mit.edu	37	11	59190023	59190023	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:59190023A>T	uc010rkt.1	-	1	404	c.404T>A	c.(403-405)GTC>GAC	p.V135D		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A,	135	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GGATATGAGGACTGTGTAAAG	0.458												
OR10V1	390201	broad.mit.edu	37	11	59481150	59481150	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:59481150T>C	uc001nof.1	-	1	169	c.169A>G	c.(169-171)ACC>GCC	p.T57A		NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V,	57	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TACATGGGGGTGTGGAGGGAA	0.453												
PRPF19	27339	broad.mit.edu	37	11	60670301	60670301	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:60670301C>T	uc001nqf.2	-	4	506	c.299G>A	c.(298-300)CGC>CAC	p.R100H		NM_014502	NP_055317	Q9UMS4	PRP19_HUMAN	PRP19/PSO4 pre-mRNA processing factor 19	100					DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			ovary(1)	1						CAGCTCTTGGCGGGTTGTCTG	0.592												
DDB1	1642	broad.mit.edu	37	11	61081893	61081893	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:61081893C>T	uc001nrc.3	-	13	1702	c.1476G>A	c.(1474-1476)GAG>GAA	p.E492E	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Silent_p.E492E|DDB1_uc010rlg.1_RNA	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	492	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4						TGGCCTGAGGCTCCTTCCATT	0.527								NER				
DAK	26007	broad.mit.edu	37	11	61111667	61111667	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:61111667C>T	uc001nre.2	+	13	1419	c.1162C>T	c.(1162-1164)CTG>TTG	p.L388L	DDB1_uc010rlf.1_5'Flank|DAK_uc009ynm.1_Silent_p.L318L	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2	388	DhaL.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding				0						TCTCCTGGGCCTGGAGGAACA	0.652												
C11orf9	745	broad.mit.edu	37	11	61533551	61533551	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:61533551C>T	uc001nsc.1	+	3	352	c.256C>T	c.(256-258)CGC>TGC	p.R86C	C11orf9_uc001nse.1_Missense_Mutation_p.R77C	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	myelin gene regulatory factor isoform 2	86	Pro-rich.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						CTCCCCGGGGCGCCATGGTCC	0.736												
INTS5	80789	broad.mit.edu	37	11	62416784	62416784	+	Silent	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:62416784A>G	uc001nud.2	-	2	821	c.768T>C	c.(766-768)GCT>GCC	p.A256A	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	256					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2						CTCCACCTCCAGCCCCACCAT	0.567												
BSCL2	26580	broad.mit.edu	37	11	62458891	62458891	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:62458891T>C	uc001nuo.1	-	7	1098	c.674A>G	c.(673-675)TAC>TGC	p.Y225C	LRRN4CL_uc001nun.2_5'Flank|BSCL2_uc009yoc.1_Intron|BSCL2_uc001nup.2_Missense_Mutation_p.Y225C|BSCL2_uc001nuq.1_Missense_Mutation_p.Y225C|BSCL2_uc001nur.3_Missense_Mutation_p.Y289C|BSCL2_uc009yod.2_Missense_Mutation_p.Y289C|BSCL2_uc001nut.3_Missense_Mutation_p.Y289C|HNRNPUL2_uc001nuu.1_RNA	NM_032667	NP_116056	Q96G97	BSCL2_HUMAN	seipin isoform 2	225	Lumenal (Potential).				cell death	integral to endoplasmic reticulum membrane					0						GTATAGCAGGTATCTGAGGCA	0.498												
SLC22A6	9356	broad.mit.edu	37	11	62751957	62751957	+	Missense_Mutation	SNP	C	C	T	rs144356509		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:62751957C>T	uc001nwk.2	-	1	513	c.206G>A	c.(205-207)CGG>CAG	p.R69Q	SLC22A6_uc001nwl.2_Missense_Mutation_p.R69Q|SLC22A6_uc001nwj.2_Missense_Mutation_p.R69Q|SLC22A6_uc001nwm.2_Missense_Mutation_p.R69Q	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	solute carrier family 22 member 6 isoform a	69	Extracellular (Potential).				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding				0						CTGCCTGTCCCGGGGCAGCCA	0.662												
RPS6KA4	8986	broad.mit.edu	37	11	64126901	64126901	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:64126901T>C	uc001oae.2	+	2	190	c.107T>C	c.(106-108)CTC>CCC	p.L36P	RPS6KA4_uc001oad.2_Missense_Mutation_p.L36P|RPS6KA4_uc010rnl.1_Intron|RPS6KA4_uc001oaf.2_Missense_Mutation_p.L36P|RPS6KA4_uc009ypp.2_Missense_Mutation_p.L36P	NM_003942	NP_003933	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	36	Protein kinase 1.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			lung(3)|ovary(1)|breast(1)	5						TTCGAGCTGCTCAAGGTGCTG	0.697												
SLC22A12	116085	broad.mit.edu	37	11	64360339	64360339	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:64360339G>A	uc001oam.1	+	2	1238	c.491G>A	c.(490-492)GGC>GAC	p.G164D	SLC22A12_uc009ypr.1_Missense_Mutation_p.G164D|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Missense_Mutation_p.G164D|SLC22A12_uc001oan.1_Missense_Mutation_p.G164D|SLC22A12_uc009ypt.2_5'Flank	NM_144585	NP_653186	Q96S37	S22AC_HUMAN	urate anion exchanger 1 isoform a	164	Helical; (Potential).		G -> S (in RH; reduced urate transport).		cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			ovary(1)	1						GCTGCGTGCGGCCCTGCCTCA	0.632												
PYGM	5837	broad.mit.edu	37	11	64523002	64523002	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:64523002G>T	uc001oax.3	-	6	1506	c.689C>A	c.(688-690)CCC>CAC	p.P230H	PYGM_uc001oay.3_Missense_Mutation_p.P142H	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	230					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	GCCAGGCACGGGCGTATCGTA	0.602												
CDC42BPG	55561	broad.mit.edu	37	11	64601436	64601436	+	Silent	SNP	T	T	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:64601436T>A	uc001obs.3	-	21	2427	c.2427A>T	c.(2425-2427)TCA>TCT	p.S809S		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	809					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4						TCAGGGAGTTTGAGGGCTTGG	0.592												
SPDYC	387778	broad.mit.edu	37	11	64940437	64940437	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:64940437G>A	uc010rnz.1	+	6	799	c.799G>A	c.(799-801)GTC>ATC	p.V267I		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	speedy C	267					cell cycle	nucleus	protein kinase binding				0						CTTTCTCATCGTCTTGCCTCC	0.582												
FRMD8	83786	broad.mit.edu	37	11	65167304	65167304	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:65167304G>A	uc001odu.3	+	8	1093	c.901G>A	c.(901-903)GTG>ATG	p.V301M	FRMD8_uc009yqj.2_Missense_Mutation_p.V245M|FRMD8_uc010rof.1_Missense_Mutation_p.V267M	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	301	FERM.					cytoskeleton	binding			lung(1)|pancreas(1)	2						TCTGGAAGGCGTGCACGTCAT	0.612												
MAP3K11	4296	broad.mit.edu	37	11	65375801	65375801	+	Silent	SNP	G	G	A	rs61736581	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:65375801G>A	uc001oew.2	-	2	1351	c.858C>T	c.(856-858)TAC>TAT	p.Y286Y	MAP3K11_uc001oev.2_5'Flank|MAP3K11_uc010rol.1_Silent_p.Y29Y|MAP3K11_uc001oex.1_Translation_Start_Site	NM_002419	NP_002410	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase	286	Protein kinase.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|lung(1)|central_nervous_system(1)|skin(1)	6						CCATCCAGGCGTAGGTGCCCG	0.607												
PCNXL3	399909	broad.mit.edu	37	11	65392940	65392940	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:65392940G>A	uc001oey.2	+	18	3094	c.3094G>A	c.(3094-3096)GAG>AAG	p.E1032K	PCNXL3_uc009yqn.2_5'UTR|PCNXL3_uc001oez.2_5'Flank	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1032						integral to membrane					0						AGCCCGGGCCGAGCCCCCGGA	0.697												
RNASEH2C	84153	broad.mit.edu	37	11	65487870	65487870	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:65487870C>T	uc001ofn.2	-	2	371	c.191G>A	c.(190-192)CGG>CAG	p.R64Q	RNASEH2C_uc001ofm.2_RNA	NM_032193	NP_115569	Q8TDP1	RNH2C_HUMAN	ribonuclease H2, subunit C	64					RNA catabolic process	nucleus|ribonuclease H2 complex					0						ACAGCGGCCCCGAAACGACAC	0.677												
SNX32	254122	broad.mit.edu	37	11	65617022	65617022	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:65617022G>A	uc001ofr.2	+	2	237	c.110G>A	c.(109-111)CGG>CAG	p.R37Q	SNX32_uc009yqt.2_Missense_Mutation_p.R37Q|SNX32_uc010rop.1_Missense_Mutation_p.R37Q	NM_152760	NP_689973	Q86XE0	SNX32_HUMAN	sorting nexin 6B	37	PX.				cell communication|protein transport		phosphatidylinositol binding				0				READ - Rectum adenocarcinoma(159;0.171)		GTGAGTGAGCGGGACAAGGTG	0.612												
EIF1AD	84285	broad.mit.edu	37	11	65767776	65767776	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:65767776T>C	uc001ogm.1	-	2	370	c.85A>G	c.(85-87)AGG>GGG	p.R29G	EIF1AD_uc001ogn.1_Missense_Mutation_p.R29G|BANF1_uc001ogo.2_5'Flank|BANF1_uc001ogp.2_5'Flank	NM_032325	NP_115701	Q8N9N8	EIF1A_HUMAN	eukaryotic translation initiation factor 1A	29	S1-like.					nucleus	translation initiation factor activity				0						CCACTCACCCTGACAATCTGC	0.632												
RIN1	9610	broad.mit.edu	37	11	66099764	66099764	+	Missense_Mutation	SNP	G	G	A	rs144651587	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:66099764G>A	uc001ohn.1	-	10	2462	c.2335C>T	c.(2335-2337)CGG>TGG	p.R779W	RIN1_uc010roy.1_Missense_Mutation_p.R410W|RIN1_uc009yrd.1_Missense_Mutation_p.R472W|RIN1_uc010roz.1_Missense_Mutation_p.R674W|RIN1_uc010rpa.1_Missense_Mutation_p.R613W	NM_004292	NP_004283	Q13671	RIN1_HUMAN	ras inhibitor RIN1	779					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			lung(2)|breast(1)	3						TCTGCTGCCCGGCTTCCCTCT	0.622												
SLC29A2	3177	broad.mit.edu	37	11	66136983	66136983	+	Silent	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:66136983G>T	uc001oht.2	-	3	361	c.132C>A	c.(130-132)GCC>GCA	p.A44A	SLC29A2_uc001ohs.2_5'UTR|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_5'UTR|SLC29A2_uc001ohu.2_Silent_p.A44A|SLC29A2_uc001ohv.2_Silent_p.A44A|uc001ohw.1_RNA	NM_001532	NP_001523	Q14542	S29A2_HUMAN	solute carrier family 29 (nucleoside	44					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			ovary(1)	1						TGCCGGCCCCGGCCAGTCGCG	0.552												
RBM4B	83759	broad.mit.edu	37	11	66436507	66436507	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:66436507C>T	uc001oja.2	-	2	1337	c.668G>A	c.(667-669)CGA>CAA	p.R223Q	RBM4B_uc001ojb.2_Missense_Mutation_p.R223Q	NM_031492	NP_113680	Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	223	Interaction with TNPO3 (By similarity).				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding				0						GACCCGGTATCGCTTATAGTA	0.507												
PC	5091	broad.mit.edu	37	11	66616805	66616805	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:66616805C>T	uc001ojn.1	-	20	3233	c.3184G>A	c.(3184-3186)GCC>ACC	p.A1062T	PC_uc001ojo.1_Missense_Mutation_p.A1062T|PC_uc001ojp.1_Missense_Mutation_p.A1062T|PC_uc001ojm.1_Missense_Mutation_p.A51T	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	1062					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	ACGGCCAGGGCTTTGATGTGC	0.652												
ADRBK1	156	broad.mit.edu	37	11	67051736	67051736	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:67051736C>T	uc009yrn.1	+	18	1812	c.1546C>T	c.(1546-1548)CGG>TGG	p.R516W	ADRBK1_uc009yrm.1_Intron	NM_001619	NP_001610	P25098	ARBK1_HUMAN	beta-adrenergic receptor kinase 1	516	AGC-kinase C-terminal.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CATCTCGGAGCGGTGGCAGCA	0.592												
RAD9A	5883	broad.mit.edu	37	11	67163272	67163272	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:67163272C>T	uc001okr.2	+	6	628	c.535C>T	c.(535-537)CGC>TGC	p.R179C	RAD9A_uc001oks.2_Missense_Mutation_p.R36C	NM_004584	NP_004575	Q99638	RAD9A_HUMAN	RAD9 homolog	179					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding				0			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GGTCATCCTGCGCAGCTACCA	0.662								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes				
LRP5	4041	broad.mit.edu	37	11	68201164	68201164	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:68201164C>T	uc001ont.2	+	18	3933	c.3858C>T	c.(3856-3858)TGC>TGT	p.C1286C	LRP5_uc009ysg.2_Silent_p.C696C	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	1286	LDL-receptor class A 1.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						TTCCCGAGTGCGATGACCAGA	0.711												
ANO1	55107	broad.mit.edu	37	11	70033855	70033855	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:70033855G>A	uc001opj.2	+	26	3011	c.2706G>A	c.(2704-2706)ATG>ATA	p.M902I	ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.M611I|ANO1_uc010rql.1_Missense_Mutation_p.M76I	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	902	Helical; (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2						ACCTGGTCATGTTCATGAGCG	0.592												
ARHGEF17	9828	broad.mit.edu	37	11	73076913	73076913	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:73076913C>T	uc001otu.2	+	20	5937	c.5916C>T	c.(5914-5916)CAC>CAT	p.H1972H		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1972					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0						ACACCGGCCACGTCCGCTTCT	0.652												
B3GNT6	192134	broad.mit.edu	37	11	76751257	76751257	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:76751257G>A	uc001oxw.2	+	2	750	c.662G>A	c.(661-663)GGC>GAC	p.G221D		NM_138706	NP_619651	Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal	221	Lumenal (Potential).				O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity				0						CTGCTCAGCGGCGACGACGAC	0.677												
ODZ4	26011	broad.mit.edu	37	11	78412903	78412903	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:78412903C>T	uc001ozl.3	-	28	5218	c.4755G>A	c.(4753-4755)GAG>GAA	p.E1585E	ODZ4_uc009yvb.1_Silent_p.E169E	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1585	Extracellular (Potential).|YD 1.				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						ACAGATAGAGCTCCTGGTCAA	0.517												
SYTL2	54843	broad.mit.edu	37	11	85411568	85411568	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:85411568C>T	uc010rth.1	-	15	2619	c.2343G>A	c.(2341-2343)GAG>GAA	p.E781E	SYTL2_uc010rtg.1_Silent_p.E782E|SYTL2_uc010rti.1_Silent_p.E757E|SYTL2_uc010rtj.1_Silent_p.E749E|SYTL2_uc001pav.2_Silent_p.E223E|SYTL2_uc010rte.1_Silent_p.E183E|SYTL2_uc001pax.2_Silent_p.E223E|SYTL2_uc001paz.2_Silent_p.E102E|SYTL2_uc001pba.2_Silent_p.E166E|SYTL2_uc001pay.2_Silent_p.E212E|SYTL2_uc001paw.2_Silent_p.E183E|SYTL2_uc009yvj.2_RNA|SYTL2_uc001pbd.2_Silent_p.E1079E|SYTL2_uc001pbb.2_Silent_p.E1119E|SYTL2_uc001pbc.2_Silent_p.E1103E|SYTL2_uc010rtf.1_Silent_p.E599E	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform g	781	C2 2.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			ovary(2)|large_intestine(1)	3		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CAGGGACTGGCTCTGGGACAT	0.448												
EED	8726	broad.mit.edu	37	11	85975274	85975274	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:85975274T>C	uc001pbp.2	+	7	1152	c.695T>C	c.(694-696)GTA>GCA	p.V232A	EED_uc010rtm.1_Missense_Mutation_p.V232A|EED_uc001pbq.2_Missense_Mutation_p.V232A|EED_uc001pbr.2_Missense_Mutation_p.V232A|EED_uc001pbs.2_Missense_Mutation_p.V232A|EED_uc010rtn.1_RNA	NM_003797	NP_003788	O75530	EED_HUMAN	embryonic ectoderm development isoform a	232	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			skin(1)|pancreas(1)	2		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				TTTGGAGGCGTAGAAGGGCAC	0.398												
FZD4	8322	broad.mit.edu	37	11	86662374	86662374	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:86662374G>A	uc001pce.2	-	2	1730	c.1424C>T	c.(1423-1425)GCT>GTT	p.A475V	PRSS23_uc001pcc.1_RNA	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	frizzled 4 precursor	475	Extracellular (Potential).				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			large_intestine(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CATTTCAACAGCCATGTTGGA	0.423												
NOX4	50507	broad.mit.edu	37	11	89177323	89177323	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:89177323C>T	uc001pct.2	-	5	666	c.427G>A	c.(427-429)GCA>ACA	p.A143T	NOX4_uc009yvr.2_Missense_Mutation_p.A118T|NOX4_uc001pcu.2_Missense_Mutation_p.A69T|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Missense_Mutation_p.A143T|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Intron|NOX4_uc009yvp.2_Missense_Mutation_p.A143T|NOX4_uc010rtv.1_Missense_Mutation_p.A119T|NOX4_uc009yvq.2_Missense_Mutation_p.A119T|NOX4_uc009yvs.1_RNA	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4 isoform a	143	Extracellular (Potential).|Ferric oxidoreductase.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TATCTTGCTGCATTCAGTTCA	0.448												
FAT3	120114	broad.mit.edu	37	11	92533963	92533963	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:92533963A>G	uc001pdj.3	+	9	7801	c.7784A>G	c.(7783-7785)GAC>GGC	p.D2595G		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2595	Cadherin 23.|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)				GATGAAAATGACAATGCTCCC	0.478										TCGA Ovarian(4;0.039)		
TAF1D	79101	broad.mit.edu	37	11	93471428	93471428	+	Silent	SNP	T	T	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:93471428T>A	uc001ped.2	-	3	508	c.306A>T	c.(304-306)ACA>ACT	p.T102T	SNORA8_uc001pec.2_5'Flank|TAF1D_uc001pdz.2_RNA|TAF1D_uc001pea.1_RNA	NM_024116	NP_077021	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding				0						GTGGTCTTCCTGTTGGCTGGT	0.358												
MRE11A	4361	broad.mit.edu	37	11	94197320	94197320	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:94197320A>G	uc001peu.2	-	11	1373	c.1184T>C	c.(1183-1185)ATT>ACT	p.I395T	MRE11A_uc001pev.2_Missense_Mutation_p.I395T|MRE11A_uc009ywj.2_Missense_Mutation_p.I398T	NM_005591	NP_005582	P49959	MRE11_HUMAN	meiotic recombination 11 homolog A isoform 1	395					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(4)|lung(1)	5		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				AAAATGGATAATGTCTTTTGG	0.348								Homologous_recombination	Ataxia-Telangiectasia-Like_Disorder			
MTMR2	8898	broad.mit.edu	37	11	95580894	95580894	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:95580894C>T	uc001pfu.2	-	10	1416	c.1163G>A	c.(1162-1164)TGG>TAG	p.W388*	MTMR2_uc001pfv.2_Nonsense_Mutation_p.W316*|MTMR2_uc001pfs.2_Nonsense_Mutation_p.W316*|MTMR2_uc001pft.2_Nonsense_Mutation_p.W316*|MTMR2_uc010ruj.1_Nonsense_Mutation_p.W371*	NM_016156	NP_057240	Q13614	MTMR2_HUMAN	myotubularin-related protein 2 isoform 1	388	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATGTTCTAGCCAATGAGTAGA	0.353												
CNTN5	53942	broad.mit.edu	37	11	99944909	99944909	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:99944909A>C	uc001pga.2	+	13	1802	c.1463A>C	c.(1462-1464)AAG>ACG	p.K488T	CNTN5_uc009ywv.1_Missense_Mutation_p.K488T|CNTN5_uc001pfz.2_Missense_Mutation_p.K488T|CNTN5_uc001pgb.2_Missense_Mutation_p.K414T	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	488	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AATCAACTGAAGAAAACAATA	0.388												
MMP8	4317	broad.mit.edu	37	11	102593283	102593283	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:102593283G>A	uc001phe.2	-	2	323	c.224C>T	c.(223-225)ACG>ATG	p.T75M	MMP8_uc010rut.1_Missense_Mutation_p.T10M|MMP8_uc010ruu.1_Missense_Mutation_p.T52M	NM_002424	NP_002415	P22894	MMP8_HUMAN	matrix metalloproteinase 8 preproprotein	75					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		TGGCTTCCCCGTCACATTCAA	0.448												
DYNC2H1	79659	broad.mit.edu	37	11	102988484	102988484	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:102988484C>T	uc001pho.2	+	6	1035	c.891C>T	c.(889-891)GTC>GTT	p.V297V	DYNC2H1_uc001phn.1_Silent_p.V297V|DYNC2H1_uc009yxe.1_Silent_p.V297V	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	297	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GGGTGATAGTCTGTAATCATC	0.393												
DYNC2H1	79659	broad.mit.edu	37	11	103194690	103194690	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:103194690G>A	uc001pho.2	+	82	12155	c.12011G>A	c.(12010-12012)CGC>CAC	p.R4004H	DYNC2H1_uc001phn.1_Missense_Mutation_p.R4011H|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4004					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)		AATATCGCTCGCTCATCTCAG	0.388												
DYNC2H1	79659	broad.mit.edu	37	11	103270461	103270461	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:103270461T>C	uc001pho.2	+	84	12371	c.12227T>C	c.(12226-12228)ATC>ACC	p.I4076T	DYNC2H1_uc001phn.1_Missense_Mutation_p.I4083T|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4076					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)		CTGTCATTCATCATTCTTGAA	0.368												
PDGFD	80310	broad.mit.edu	37	11	103797725	103797725	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:103797725C>T	uc001phq.2	-	6	1274	c.902G>A	c.(901-903)CGC>CAC	p.R301H	PDGFD_uc001php.2_Missense_Mutation_p.R295H	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D isoform 1	301					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			upper_aerodigestive_tract(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TCCTCCACAGCGCTGCACGAG	0.473												
FAM55A	120400	broad.mit.edu	37	11	114400914	114400914	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:114400914T>A	uc001ppa.2	-	3	807	c.390A>T	c.(388-390)GAA>GAT	p.E130D	FAM55A_uc010rxd.1_5'UTR|FAM55A_uc001ppb.1_Missense_Mutation_p.E272D	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	hypothetical protein LOC120400	272						extracellular region					0		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)		AAAGGCTGTTTTCCTTGTCTG	0.458												
CADM1	23705	broad.mit.edu	37	11	115088664	115088664	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:115088664T>G	uc001ppi.3	-	6	898	c.769A>C	c.(769-771)ACC>CCC	p.T257P	CADM1_uc001ppf.3_Missense_Mutation_p.T257P|CADM1_uc001ppk.3_Missense_Mutation_p.T257P|CADM1_uc001ppj.3_Missense_Mutation_p.T257P|CADM1_uc001ppl.2_Missense_Mutation_p.T257P|CADM1_uc001pph.3_Missense_Mutation_p.T9P	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	immunoglobulin superfamily, member 4D isoform 1	257	Ig-like C2-type 2.|Extracellular (Potential).				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			ovary(2)	2	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CCTTCCCGGGTTAAGCCTTGT	0.453												
SCN2B	6327	broad.mit.edu	37	11	118047107	118047107	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:118047107G>T	uc001psf.2	-	1	231	c.40C>A	c.(40-42)CTC>ATC	p.L14I		NM_004588	NP_004579	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta	14					synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity				0	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		AGCCCCGTGAGGCTGAAGGCA	0.552												
OR10G7	390265	broad.mit.edu	37	11	123909037	123909037	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:123909037G>A	uc001pzq.1	-	1	672	c.672C>T	c.(670-672)ATC>ATT	p.I224I		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G,	224	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GGATCCGCAGGATGGAACAGA	0.537												
VWA5A	4013	broad.mit.edu	37	11	124007944	124007944	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:124007944T>C	uc001pzu.2	+	15	2057	c.1848T>C	c.(1846-1848)GCT>GCC	p.A616A	VWA5A_uc001pzt.2_Silent_p.A616A	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN	BCSC-1 isoform 1	616										upper_aerodigestive_tract(1)|ovary(1)	2						TGTTGGGTGCTTCTGCCCCAT	0.423												
ROBO4	54538	broad.mit.edu	37	11	124765380	124765380	+	Missense_Mutation	SNP	C	C	T	rs140504916		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:124765380C>T	uc001qbg.2	-	6	1149	c.1009G>A	c.(1009-1011)GTG>ATG	p.V337M	ROBO4_uc010sas.1_Missense_Mutation_p.V192M|ROBO4_uc001qbh.2_Missense_Mutation_p.V227M|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	337	Fibronectin type-III 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		AGGAGCAGCACGTTGCTGTCA	0.607												
CCDC15	80071	broad.mit.edu	37	11	124908371	124908371	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:124908371G>A	uc001qbm.3	+	14	2715	c.2456G>A	c.(2455-2457)AGG>AAG	p.R819K		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	819						centrosome				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		GCAGAGCAGAGGATCCTAAGA	0.308												
FEZ1	9638	broad.mit.edu	37	11	125359542	125359542	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:125359542G>A	uc001qbx.2	-	2	284	c.132C>T	c.(130-132)TCC>TCT	p.S44S	FEZ1_uc010sbc.1_Silent_p.S44S|FEZ1_uc001qby.1_Silent_p.S44S	NM_005103	NP_005094	Q99689	FEZ1_HUMAN	zygin 1 isoform 1	44					axon guidance|cell adhesion|transport	microtubule|plasma membrane				central_nervous_system(3)|ovary(1)	4	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		TCTCAAGCTCGGAGAGGGAGG	0.502												
CDON	50937	broad.mit.edu	37	11	125889551	125889551	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:125889551G>A	uc009zbw.2	-	4	587	c.459C>T	c.(457-459)CGC>CGT	p.R153R	CDON_uc001qdc.3_Silent_p.R153R|CDON_uc001qdd.3_RNA|CDON_uc009zbx.2_Silent_p.R153R	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN	surface glycoprotein, Ig superfamily member	153	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|skin(2)|breast(1)	6	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GGATTTTATAGCGCACCTCAG	0.443												
SRPR	6734	broad.mit.edu	37	11	126133915	126133915	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:126133915A>G	uc001qdh.2	-	14	1864	c.1813T>C	c.(1813-1815)TAC>CAC	p.Y605H	SRPR_uc010sbm.1_Missense_Mutation_p.Y577H	NM_003139	NP_003130	P08240	SRPR_HUMAN	signal recognition particle receptor	605					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)		CTTGTGATGTACGTCATAGAA	0.547												
NTM	50863	broad.mit.edu	37	11	132184590	132184590	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:132184590G>C	uc001qgp.2	+	6	1591	c.927G>C	c.(925-927)ATG>ATC	p.M309I	NTM_uc001qgm.2_Missense_Mutation_p.M309I|NTM_uc010sch.1_Missense_Mutation_p.M300I|NTM_uc010sci.1_Missense_Mutation_p.M309I|NTM_uc010scj.1_Missense_Mutation_p.M268I|NTM_uc001qgo.2_Missense_Mutation_p.M309I|NTM_uc001qgq.2_Missense_Mutation_p.M309I|NTM_uc001qgr.2_Missense_Mutation_p.M91I	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1	309	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)|skin(1)	6						CCAGCATCATGCTATTTGGTG	0.552												
SPATA19	219938	broad.mit.edu	37	11	133714492	133714492	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:133714492A>G	uc001qgv.1	-	3	230	c.179T>C	c.(178-180)ATC>ACC	p.I60T		NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19 precursor	60					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane					0	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		AGGGTGGTTGATGGACAGCTT	0.517												
ACAD8	27034	broad.mit.edu	37	11	134126459	134126459	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:134126459G>A	uc001qhk.2	+	2	188	c.127G>A	c.(127-129)GAA>AAA	p.E43K	ACAD8_uc009zdc.2_Missense_Mutation_p.M1I|ACAD8_uc010sco.1_Missense_Mutation_p.M1I|ACAD8_uc010scp.1_RNA|ACAD8_uc010scq.1_Intron|ACAD8_uc001qhl.2_Intron|ACAD8_uc010scr.1_Missense_Mutation_p.E5K|ACAD8_uc009zde.1_5'Flank	NM_014384	NP_055199	Q9UKU7	ACAD8_HUMAN	acyl-Coenzyme A dehydrogenase family, member 8	43					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding				0	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		GGGACTTAATGAAGAGCAGAA	0.473												
KDM5A	5927	broad.mit.edu	37	12	443491	443491	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:443491G>T	uc001qif.1	-	11	1769	c.1406C>A	c.(1405-1407)CCG>CAG	p.P469Q	KDM5A_uc001qie.1_Missense_Mutation_p.P469Q|KDM5A_uc010sdn.1_Missense_Mutation_p.P428Q|KDM5A_uc010sdo.1_Missense_Mutation_p.P88Q	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	469	JmjC.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3						ATAGAGCCACGGCACTTTCAT	0.418			T 	NUP98	AML							
FBXL14	144699	broad.mit.edu	37	12	1702997	1702997	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:1702997C>T	uc001qjh.2	-	1	335	c.236G>A	c.(235-237)CGC>CAC	p.R79H	WNT5B_uc009zdq.2_Intron|FBXL14_uc001qji.2_5'Flank	NM_152441	NP_689654	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	79						cytoplasm				ovary(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			GAGGCTGCGGCGGAGGCTCAG	0.692												
CACNA1C	775	broad.mit.edu	37	12	2706448	2706448	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:2706448C>T	uc009zdu.1	+	21	3159	c.2846C>T	c.(2845-2847)GCT>GTT	p.A949V	CACNA1C_uc009zdv.1_Missense_Mutation_p.A946V|CACNA1C_uc001qkb.2_Intron|CACNA1C_uc001qkc.2_Intron|CACNA1C_uc001qke.2_Intron|CACNA1C_uc001qkf.2_Intron|CACNA1C_uc001qjz.2_Missense_Mutation_p.A949V|CACNA1C_uc001qkd.2_Missense_Mutation_p.A949V|CACNA1C_uc001qkg.2_Missense_Mutation_p.A949V|CACNA1C_uc009zdw.1_Missense_Mutation_p.A949V|CACNA1C_uc001qkh.2_Missense_Mutation_p.A949V|CACNA1C_uc001qkl.2_Missense_Mutation_p.A949V|CACNA1C_uc001qkn.2_Intron|CACNA1C_uc001qko.2_Missense_Mutation_p.A949V|CACNA1C_uc001qkp.2_Intron|CACNA1C_uc001qkr.2_Intron|CACNA1C_uc001qku.2_Intron|CACNA1C_uc001qkq.2_Missense_Mutation_p.A949V|CACNA1C_uc001qks.2_Missense_Mutation_p.A949V|CACNA1C_uc001qkt.2_Missense_Mutation_p.A949V|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Missense_Mutation_p.A685V|CACNA1C_uc001qkj.1_Missense_Mutation_p.A685V|CACNA1C_uc001qkk.1_Missense_Mutation_p.A685V|CACNA1C_uc001qkm.1_Missense_Mutation_p.A685V	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	949	III.|Helical; Name=S2 of repeat III; (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ATTGAAATTGCTCTGAAGGTA	0.488												
CACNA1C	775	broad.mit.edu	37	12	2714915	2714915	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:2714915A>C	uc009zdu.1	+	25	3492	c.3179A>C	c.(3178-3180)CAG>CCG	p.Q1060P	CACNA1C_uc009zdv.1_Missense_Mutation_p.Q1037P|CACNA1C_uc001qkb.2_Missense_Mutation_p.Q1040P|CACNA1C_uc001qkc.2_Missense_Mutation_p.Q1040P|CACNA1C_uc001qke.2_Missense_Mutation_p.Q1040P|CACNA1C_uc001qkf.2_Missense_Mutation_p.Q1040P|CACNA1C_uc001qjz.2_Missense_Mutation_p.Q1040P|CACNA1C_uc001qkd.2_Missense_Mutation_p.Q1040P|CACNA1C_uc001qkg.2_Missense_Mutation_p.Q1040P|CACNA1C_uc009zdw.1_Missense_Mutation_p.Q1040P|CACNA1C_uc001qkh.2_Missense_Mutation_p.Q1040P|CACNA1C_uc001qkl.2_Missense_Mutation_p.Q1060P|CACNA1C_uc001qkn.2_Missense_Mutation_p.Q1040P|CACNA1C_uc001qko.2_Missense_Mutation_p.Q1060P|CACNA1C_uc001qkp.2_Missense_Mutation_p.Q1040P|CACNA1C_uc001qkr.2_Missense_Mutation_p.Q1040P|CACNA1C_uc001qku.2_Missense_Mutation_p.Q1040P|CACNA1C_uc001qkq.2_Missense_Mutation_p.Q1040P|CACNA1C_uc001qks.2_Missense_Mutation_p.Q1040P|CACNA1C_uc001qkt.2_Missense_Mutation_p.Q1040P|CACNA1C_uc001qka.1_Missense_Mutation_p.Q575P|CACNA1C_uc001qki.1_Missense_Mutation_p.Q776P|CACNA1C_uc001qkj.1_Missense_Mutation_p.Q776P|CACNA1C_uc001qkk.1_Missense_Mutation_p.Q776P|CACNA1C_uc001qkm.1_Missense_Mutation_p.Q776P	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1060	III.|Helical; Name=S5 of repeat III; (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ACCCTGCTGCAGTTCATGTTT	0.587												
KCNA6	3742	broad.mit.edu	37	12	4919254	4919254	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:4919254G>A	uc001qng.2	+	1	913	c.47G>A	c.(46-48)CGT>CAT	p.R16H		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	16						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3						GGGGAGGTCCGTGGGCCGGAG	0.692										HNSCC(72;0.22)		
ATN1	1822	broad.mit.edu	37	12	7046302	7046302	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:7046302G>A	uc001qrw.1	+	5	2109	c.1872G>A	c.(1870-1872)TCG>TCA	p.S624S	ATN1_uc001qrx.1_Silent_p.S624S	NM_001007026	NP_001007027	P54259	ATN1_HUMAN	atrophin-1	624					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						TGGCTTCCTCGCCAGCAGGCT	0.672												
C1S	716	broad.mit.edu	37	12	7177639	7177639	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:7177639C>T	uc001qsj.2	+	15	2470	c.1751C>T	c.(1750-1752)GCG>GTG	p.A584V	C1S_uc001qsk.2_Missense_Mutation_p.A584V|C1S_uc001qsl.2_Missense_Mutation_p.A584V|C1S_uc009zfr.2_Missense_Mutation_p.A417V|C1S_uc009zfs.2_RNA	NM_201442	NP_958850	P09871	C1S_HUMAN	complement component 1, s subcomponent	584	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			skin(1)	1					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	CGCCTCAAGGCGGCAAGGTTA	0.517												
C1RL	51279	broad.mit.edu	37	12	7249434	7249434	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:7249434G>A	uc001qsn.2	-	6	1034	c.1017C>T	c.(1015-1017)GAC>GAT	p.D339D	C1RL_uc009zft.2_3'UTR	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	339	Peptidase S1.	Charge relay system (By similarity).			complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			pancreas(1)	1						GGAGGGCGATGTCCCCGCTAA	0.602												
CD163L1	283316	broad.mit.edu	37	12	7527479	7527479	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:7527479T>C	uc001qsy.2	-	12	3068	c.3042A>G	c.(3040-3042)GTA>GTG	p.V1014V	CD163L1_uc010sge.1_Silent_p.V1024V	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	1014	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						ATGGGTCAGATACATTTGCGA	0.458											OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CD69	969	broad.mit.edu	37	12	9907713	9907713	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:9907713T>C	uc001qwk.2	-	3	413	c.332A>G	c.(331-333)AAT>AGT	p.N111S	CD69_uc010sgu.1_Missense_Mutation_p.N111S|CD69_uc010sgv.1_Missense_Mutation_p.N111S	NM_001781	NP_001772	Q07108	CD69_HUMAN	CD69 molecule	111	C-type lectin.|Extracellular (Potential).					integral to plasma membrane	sugar binding|transmembrane receptor activity				0						AGAACAAGCATTTTGGGCTGA	0.383												
TAS2R42	353164	broad.mit.edu	37	12	11338670	11338670	+	Nonsense_Mutation	SNP	G	G	A	rs139760560		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:11338670G>A	uc001qzr.1	-	1	874	c.874C>T	c.(874-876)CGA>TGA	p.R292*	PRB4_uc001qzf.1_Intron	NM_181429	NP_852094	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	292	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			GCTGTCTGTCGCAGCTTGCTG	0.408												
KIAA1467	57613	broad.mit.edu	37	12	13214536	13214536	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:13214536T>C	uc001rbi.2	+	4	583	c.560T>C	c.(559-561)GTA>GCA	p.V187A	KIAA1467_uc009zhx.1_RNA	NM_020853	NP_065904	A2RU67	K1467_HUMAN	hypothetical protein LOC57613	187						integral to membrane				central_nervous_system(2)|skin(1)	3		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GCTAATCTTGTATGCCTTTCG	0.483												
GRIN2B	2904	broad.mit.edu	37	12	13715771	13715771	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:13715771G>A	uc001rbt.2	-	13	4580	c.4401C>T	c.(4399-4401)GGC>GGT	p.G1467G		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1467	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CATTGCTGGAGCCATTGAAAG	0.507												
ATF7IP	55729	broad.mit.edu	37	12	14577701	14577701	+	Silent	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:14577701C>A	uc001rbw.2	+	2	1010	c.852C>A	c.(850-852)ACC>ACA	p.T284T	ATF7IP_uc010shs.1_Silent_p.T284T|ATF7IP_uc001rbu.2_Silent_p.T284T|ATF7IP_uc001rbv.1_Silent_p.T284T|ATF7IP_uc001rbx.2_Silent_p.T284T|ATF7IP_uc010sht.1_Silent_p.T284T|ATF7IP_uc001rby.3_Silent_p.T284T|ATF7IP_uc001rbz.1_Silent_p.T284T|ATF7IP_uc001rca.2_Silent_p.T284T|ATF7IP_uc001rcb.2_5'Flank	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	284					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5						CTGAATCAACCTTTGATCGTA	0.433												
PTPRO	5800	broad.mit.edu	37	12	15669846	15669846	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:15669846A>G	uc001rcv.1	+	9	1909	c.1735A>G	c.(1735-1737)ACC>GCC	p.T579A	PTPRO_uc001rcw.1_Missense_Mutation_p.T579A|PTPRO_uc001rcu.1_Missense_Mutation_p.T579A	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	579	Fibronectin type-III 6.|Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)				AGAGTGGACCACCTACTATGA	0.428												
PLEKHA5	54477	broad.mit.edu	37	12	19427737	19427737	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:19427737G>A	uc001reb.2	+	10	1201	c.1115G>A	c.(1114-1116)AGC>AAC	p.S372N	PLEKHA5_uc010sie.1_Missense_Mutation_p.S378N|PLEKHA5_uc001rea.2_Missense_Mutation_p.S372N|PLEKHA5_uc009zin.2_Missense_Mutation_p.S130N|PLEKHA5_uc010sif.1_Missense_Mutation_p.S264N|PLEKHA5_uc010sig.1_Missense_Mutation_p.S264N|PLEKHA5_uc010sih.1_Missense_Mutation_p.S264N|PLEKHA5_uc001rec.1_Missense_Mutation_p.S60N	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A	372							1-phosphatidylinositol binding|protein binding			ovary(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ATCAACTTGAGCAGTTCAGAG	0.448												
ST8SIA1	6489	broad.mit.edu	37	12	22354742	22354742	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:22354742C>T	uc001rfo.3	-	5	1297	c.815G>A	c.(814-816)CGC>CAC	p.R272H	ST8SIA1_uc009zix.2_Missense_Mutation_p.R129H	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	alpha-2,8-sialyltransferase 1	272	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(3)	3						TGTGGACAGGCGCTTGGCATG	0.507												
OVCH1	341350	broad.mit.edu	37	12	29604296	29604296	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:29604296T>G	uc001rix.1	-	22	2737	c.2737A>C	c.(2737-2739)AGT>CGT	p.S913R		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	913	CUB 3.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TTTCTCTTACTGTGTCTTTCT	0.428												
IPO8	10526	broad.mit.edu	37	12	30827606	30827606	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:30827606G>A	uc001rjd.2	-	7	981	c.811C>T	c.(811-813)CGG>TGG	p.R271W	IPO8_uc010sjt.1_Missense_Mutation_p.R66W	NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8	271					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCAAAGAGCCGAGCTACAATA	0.418												
KIF21A	55605	broad.mit.edu	37	12	39727030	39727030	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:39727030C>T	uc001rly.2	-	18	2617	c.2471G>A	c.(2470-2472)CGT>CAT	p.R824H	KIF21A_uc001rlv.2_5'Flank|KIF21A_uc001rlw.2_Missense_Mutation_p.R141H|KIF21A_uc001rlx.2_Missense_Mutation_p.R811H|KIF21A_uc001rlz.2_Intron|KIF21A_uc010skl.1_Missense_Mutation_p.R811H	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	824					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				AGTTTTGCGACGTAGAACCAC	0.338												
POU6F1	5463	broad.mit.edu	37	12	51584325	51584325	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:51584325A>G	uc001rxy.2	-	5	803	c.611T>C	c.(610-612)GTG>GCG	p.V204A	POU6F1_uc001rxz.2_Missense_Mutation_p.V204A|POU6F1_uc001rya.2_Missense_Mutation_p.V204A	NM_002702	NP_002693	Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	204	POU-specific.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						CTTTTCCAGCACCGGCTTTAG	0.552												
ANKRD33	341405	broad.mit.edu	37	12	52284676	52284676	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:52284676G>A	uc001rzf.3	+	5	1150	c.571G>A	c.(571-573)GCC>ACC	p.A191T	ANKRD33_uc001rzh.3_3'UTR|ANKRD33_uc001rzd.2_Missense_Mutation_p.A316T|ANKRD33_uc001rze.2_Missense_Mutation_p.A212T|ANKRD33_uc001rzg.3_Missense_Mutation_p.A118T|ANKRD33_uc001rzi.3_Missense_Mutation_p.A191T	NM_001130015	NP_001123487	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33 isoform 1	191											0				BRCA - Breast invasive adenocarcinoma(357;0.0969)		AACCAGCCTGGCCAGTCCCTT	0.622												
KRT81	3887	broad.mit.edu	37	12	52681817	52681817	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:52681817T>C	uc001sab.2	-	5	901	c.851A>G	c.(850-852)GAC>GGC	p.D284G	KRT86_uc010snq.1_Intron|KRT86_uc009zmg.2_Intron|KRT81_uc001sac.2_Intron	NM_002281	NP_002272	Q14533	KRT81_HUMAN	keratin, hair, basic, 1	284	Rod.|Coil 2.					keratin filament	protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGTGACAATGTCGTCATACTG	0.592												
KRT6A	3853	broad.mit.edu	37	12	52881539	52881539	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:52881539T>A	uc001sam.2	-	9	1869	c.1660A>T	c.(1660-1662)ACC>TCC	p.T554S		NM_005554	NP_005545	P02538	K2C6A_HUMAN	keratin 6A	554	Tail.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			ovary(4)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.189)		GAGGAGGAGGTGGTGGTGTAC	0.597												
KRT4	3851	broad.mit.edu	37	12	53207679	53207679	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:53207679A>G	uc001saz.2	-	1	657	c.386T>C	c.(385-387)CTC>CCC	p.L129P		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	keratin 4	55						keratin filament	structural molecule activity			ovary(4)|skin(2)	6						GTTCCCCCTGAGGTTGTAGAG	0.587												
SPRYD3	84926	broad.mit.edu	37	12	53470932	53470932	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:53470932A>C	uc001sbt.1	-	2	158	c.137T>G	c.(136-138)TTC>TGC	p.F46C	SPRYD3_uc010snw.1_5'UTR	NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	46	B30.2/SPRY.									central_nervous_system(1)	1						GATATGTTTGAACCTCTCCTG	0.463												
NCKAP1L	3071	broad.mit.edu	37	12	54903701	54903701	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:54903701C>T	uc001sgc.3	+	7	746	c.667C>T	c.(667-669)CGC>TGC	p.R223C	NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Missense_Mutation_p.R173C	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	223					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4						TGAGCAGTGGCGCAGTGCCCA	0.517												
ITGA7	3679	broad.mit.edu	37	12	56094815	56094815	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:56094815C>T	uc001shh.2	-	4	758	c.538G>A	c.(538-540)GAA>AAA	p.E180K	ITGA7_uc001shg.2_Missense_Mutation_p.E180K|ITGA7_uc010sps.1_Missense_Mutation_p.E83K|ITGA7_uc009znx.2_Missense_Mutation_p.E67K	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	180	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						AACTTCCATTCCCCACCATCC	0.592												
DNAJC14	85406	broad.mit.edu	37	12	56221131	56221131	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:56221131G>C	uc001shx.1	-	2	1516	c.1312C>G	c.(1312-1314)CCT>GCT	p.P438A	DNAJC14_uc001shu.1_Missense_Mutation_p.P438A|DNAJC14_uc009zob.1_Missense_Mutation_p.P438A|DNAJC14_uc001shy.1_Missense_Mutation_p.P438A	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	dopamine receptor interacting protein	438					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(3)|large_intestine(1)	4						TCATCCTCAGGAACCCCAGCC	0.527												
ERBB3	2065	broad.mit.edu	37	12	56495050	56495050	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:56495050G>A	uc001sjh.2	+	27	3600	c.3407G>A	c.(3406-3408)CGC>CAC	p.R1136H	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Missense_Mutation_p.R493H|ERBB3_uc010sqc.1_Missense_Mutation_p.R1077H|ERBB3_uc009zok.2_Missense_Mutation_p.R401H|ERBB3_uc001sjk.2_Missense_Mutation_p.R377H|ERBB3_uc001sjl.2_Missense_Mutation_p.R256H	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	1136	Cytoplasmic (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CATTCCCAGCGCCACAGTCTG	0.597												
SMARCC2	6601	broad.mit.edu	37	12	56566249	56566249	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:56566249C>T	uc001skb.2	-	19	1902	c.1796G>A	c.(1795-1797)CGT>CAT	p.R599H	SMARCC2_uc001skd.2_Missense_Mutation_p.R630H|SMARCC2_uc001ska.2_Missense_Mutation_p.R630H|SMARCC2_uc001skc.2_Missense_Mutation_p.R629H|SMARCC2_uc010sqf.1_Missense_Mutation_p.R519H	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	599	SANT.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGTCCACTCACGAGTGGCACT	0.512												
ANKRD52	283373	broad.mit.edu	37	12	56639297	56639297	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:56639297C>T	uc001skm.3	-	21	2358	c.2268G>A	c.(2266-2268)ACG>ACA	p.T756T		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	756	ANK 22.						protein binding			ovary(2)	2						GGTGAATGGGCGTGCGGCCCT	0.622												
MYO1A	4640	broad.mit.edu	37	12	57432416	57432416	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:57432416A>G	uc001smw.3	-	17	1783	c.1540T>C	c.(1540-1542)TAC>CAC	p.Y514H	MYO1A_uc010sqz.1_Missense_Mutation_p.Y352H|MYO1A_uc009zpd.2_Missense_Mutation_p.Y514H	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	myosin IA	514	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|urinary_tract(1)	7						GTCACGTTGTATGTCACCTGT	0.517												
LRP1	4035	broad.mit.edu	37	12	57577934	57577934	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:57577934G>A	uc001snd.2	+	37	6462	c.5996G>A	c.(5995-5997)CGC>CAC	p.R1999H		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1999	LDL-receptor class B 18.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCTCCTTCCGCTACGTGGTG	0.597												
LRP1	4035	broad.mit.edu	37	12	57597035	57597035	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:57597035G>A	uc001snd.2	+	69	11249	c.10783G>A	c.(10783-10785)GAT>AAT	p.D3595N		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	3595	LDL-receptor class A 27.|Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGGAAATGCGATGGAGACCA	0.667												
B4GALNT1	2583	broad.mit.edu	37	12	58021483	58021483	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:58021483G>A	uc001spg.1	-	10	1734	c.1302C>T	c.(1300-1302)GGC>GGT	p.G434G	B4GALNT1_uc010sru.1_Silent_p.G379G	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	434	Lumenal (Potential).				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity				0	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			AGTTAACCACGCCGTCGGTGA	0.701												
C12orf66	144577	broad.mit.edu	37	12	64615892	64615892	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:64615892C>A	uc001srw.3	-	1	185	c.126G>T	c.(124-126)GAG>GAT	p.E42D	uc001srx.2_5'Flank|C12orf66_uc009zql.2_Intron	NM_152440	NP_689653	Q96MD2	CL066_HUMAN	hypothetical protein LOC144577	42										ovary(1)	1						TCTTGTTGGCCTCTCGTTCCT	0.637												
LEMD3	23592	broad.mit.edu	37	12	65634842	65634842	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:65634842A>G	uc001ssl.1	+	9	2286	c.2280A>G	c.(2278-2280)ATA>ATG	p.I760M	LEMD3_uc009zqo.1_Missense_Mutation_p.I759M	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	760	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			central_nervous_system(3)|ovary(1)	4			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TATTAGTTATACCTTCTAAAG	0.353												
LEMD3	23592	broad.mit.edu	37	12	65639551	65639551	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:65639551T>C	uc001ssl.1	+	11	2496	c.2490T>C	c.(2488-2490)CGT>CGC	p.R830R	LEMD3_uc009zqo.1_Silent_p.R829R	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	830	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			central_nervous_system(3)|ovary(1)	4			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		AAAATTCACGTGAGGTAAAGT	0.313												
DYRK2	8445	broad.mit.edu	37	12	68050891	68050891	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:68050891C>T	uc001str.3	+	3	606	c.204C>T	c.(202-204)GGC>GGT	p.G68G	DYRK2_uc001sts.3_5'UTR	NM_006482	NP_006473	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	68					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(1)|central_nervous_system(1)	4			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		TCCAGATTGGCGGCAGTAAGC	0.468												
SLC35E3	55508	broad.mit.edu	37	12	69140182	69140182	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:69140182C>T	uc001suh.2	+	1	247	c.25C>T	c.(25-27)CGG>TGG	p.R9W		NM_018656	NP_061126	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E2	9						integral to membrane					0	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			GGACCGAGTGCGGGGCCACTG	0.632												
LRRC10	376132	broad.mit.edu	37	12	70004012	70004012	+	Missense_Mutation	SNP	G	G	A	rs143606238		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:70004012G>A	uc001svc.2	-	1	931	c.607C>T	c.(607-609)CGT>TGT	p.R203C		NM_201550	NP_963844	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	203	LRR 7.					nucleus					0	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GGGAAGTAACGGATGCTGTTC	0.572												
THAP2	83591	broad.mit.edu	37	12	72070679	72070679	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:72070679C>T	uc001swq.2	+	3	984	c.478C>T	c.(478-480)CGC>TGC	p.R160C		NM_031435	NP_113623	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated	160						nucleolus	DNA binding|metal ion binding			ovary(1)	1						ACAAAAGGAACGCAGAGCAAC	0.368												
ACSS3	79611	broad.mit.edu	37	12	81532965	81532965	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:81532965A>G	uc001szl.1	+	4	792	c.701A>G	c.(700-702)TAC>TGC	p.Y234C	ACSS3_uc001szm.1_Missense_Mutation_p.Y233C	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	234						mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						AGGGTAGAGTACGTACCACTT	0.348												
SLC6A15	55117	broad.mit.edu	37	12	85260861	85260861	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:85260861A>G	uc001szv.2	-	10	2100	c.1607T>C	c.(1606-1608)GTA>GCA	p.V536A	SLC6A15_uc010sul.1_Missense_Mutation_p.V429A|SLC6A15_uc001szw.1_Missense_Mutation_p.V244A|uc001szx.2_5'Flank	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN	solute carrier family 6, member 15 isoform 1	536	Helical; Name=10; (Potential).				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			pancreas(2)|ovary(1)	3						CAAAATGACTACAATTAGCAG	0.323												
MGAT4C	25834	broad.mit.edu	37	12	86373639	86373639	+	Silent	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:86373639A>G	uc001tai.3	-	8	2115	c.865T>C	c.(865-867)TTG>CTG	p.L289L	MGAT4C_uc001tal.3_Silent_p.L289L|MGAT4C_uc001taj.3_Silent_p.L289L|MGAT4C_uc001tak.3_Silent_p.L289L|MGAT4C_uc010sum.1_Silent_p.L313L|MGAT4C_uc001tah.3_Silent_p.L289L	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	alpha-1,3-mannosyl-glycoprotein	289	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(3)	3						AAATGAGTCAATAGCCAATCA	0.388												
HAL	3034	broad.mit.edu	37	12	96371742	96371742	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:96371742A>G	uc001tem.1	-	18	1931	c.1634T>C	c.(1633-1635)GTC>GCC	p.V545A	HAL_uc009zti.1_RNA|HAL_uc010suw.1_Missense_Mutation_p.V337A|HAL_uc010sux.1_Missense_Mutation_p.V545A	NM_002108	NP_002099	P42357	HUTH_HUMAN	histidine ammonia-lyase	545					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			ovary(2)|skin(1)	3					L-Histidine(DB00117)	ATGCTCGATGACCCTGAGGGC	0.532												
FAM71C	196472	broad.mit.edu	37	12	100042149	100042149	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:100042149C>T	uc001tgn.2	+	1	619	c.197C>T	c.(196-198)GCC>GTC	p.A66V	ANKS1B_uc001tge.1_Intron|ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Intron	NM_153364	NP_699195	Q8NEG0	FA71C_HUMAN	hypothetical protein LOC196472	66											0				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		CACAACCGTGCCCGAATGGTA	0.517												
ANO4	121601	broad.mit.edu	37	12	101493484	101493484	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:101493484A>G	uc010svm.1	+	22	2707	c.2135A>G	c.(2134-2136)GAA>GGA	p.E712G	ANO4_uc001thw.2_Missense_Mutation_p.E677G|ANO4_uc001thx.2_Missense_Mutation_p.E712G|ANO4_uc001thy.2_Missense_Mutation_p.E232G	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	712	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6						CTCTTCGATGAATACTTAGAA	0.328										HNSCC(74;0.22)		
DRAM1	55332	broad.mit.edu	37	12	102301990	102301990	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:102301990C>T	uc001tix.2	+	4	832	c.369C>T	c.(367-369)GAC>GAT	p.D123D	DRAM1_uc010svv.1_Intron	NM_018370	NP_060840	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1	123	Helical; (Potential).				apoptosis|autophagy	integral to membrane|lysosomal membrane				ovary(1)	1						TGGTTCATGACGGGGGCGCTC	0.498												
ASCL1	429	broad.mit.edu	37	12	103352344	103352344	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:103352344T>G	uc001tjr.3	+	1	893	c.322T>G	c.(322-324)TTT>GTT	p.F108V		NM_004316	NP_004307	P50553	ASCL1_HUMAN	achaete-scute complex homolog 1	108					cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity				0						CTTCAGCGGCTTTGGCTACAG	0.667												
CHST11	50515	broad.mit.edu	37	12	105151303	105151303	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:105151303A>C	uc001tkx.1	+	4	1072	c.781A>C	c.(781-783)ACC>CCC	p.T261P	CHST11_uc001tky.2_Missense_Mutation_p.T256P|uc001tkz.2_5'Flank	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN	carbohydrate sulfotransferase 11	261	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity				0						ACACTGGCAAACCGTCTACTC	0.557												
POLR3B	55703	broad.mit.edu	37	12	106770229	106770229	+	Splice_Site	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:106770229G>A	uc001tlp.2	+	7	718	c.496_splice	c.e7+1	p.G166_splice	POLR3B_uc001tlq.2_Splice_Site_p.G108_splice	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1						innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2						TTAGATCCAGGTATGTGTGAA	0.388												
ASCL4	121549	broad.mit.edu	37	12	108169429	108169429	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:108169429G>A	uc001tmr.2	+	1	1268	c.437G>A	c.(436-438)CGC>CAC	p.R146H		NM_203436	NP_982260	Q6XD76	ASCL4_HUMAN	achaete-scute complex-like 4	145					regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)	1						GTCCCCCAGCGCAGGGCGGAA	0.726												
SART3	9733	broad.mit.edu	37	12	108929213	108929213	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:108929213C>T	uc001tmz.1	-	12	1713	c.1478G>A	c.(1477-1479)CGG>CAG	p.R493Q	SART3_uc001tmy.1_Missense_Mutation_p.R19Q|SART3_uc009zux.1_Missense_Mutation_p.R105Q|SART3_uc010swx.1_Missense_Mutation_p.R457Q|SART3_uc010swy.1_Missense_Mutation_p.R379Q|SART3_uc010swz.1_Missense_Mutation_p.R493Q|SART3_uc001tna.1_RNA	NM_014706	NP_055521	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T	493	HAT 8.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			pancreas(1)	1						CCAGAGTTCCCGAGCTTTCTG	0.493									Porokeratosis			
ACACB	32	broad.mit.edu	37	12	109605836	109605836	+	Missense_Mutation	SNP	G	G	A	rs78715638		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:109605836G>A	uc001tob.2	+	4	1041	c.922G>A	c.(922-924)GCA>ACA	p.A308T	ACACB_uc001toc.2_Missense_Mutation_p.A308T	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	308	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	TAAGGCCAACGCAGGTACCTG	0.627												
UBE3B	89910	broad.mit.edu	37	12	109936110	109936110	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:109936110C>T	uc001top.2	+	11	1495	c.892C>T	c.(892-894)CGT>TGT	p.R298C	UBE3B_uc001toq.2_Missense_Mutation_p.R298C|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.R298C	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	298					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						AGATCGATGCCGTGATGTATG	0.433												
GLTP	51228	broad.mit.edu	37	12	110293513	110293513	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:110293513G>T	uc001tpm.2	-	4	472	c.358C>A	c.(358-360)CAC>AAC	p.H120N	GLTP_uc010sxt.1_RNA	NM_016433	NP_057517	Q9NZD2	GLTP_HUMAN	glycolipid transfer protein	120						cytoplasm	glycolipid binding|glycolipid transporter activity				0		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)		BRCA - Breast invasive adenocarcinoma(302;0.0025)		AGGTTGGGGTGGTTCTCGTCC	0.607												
BRAP	8315	broad.mit.edu	37	12	112120995	112120995	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:112120995G>A	uc001tsn.3	-	2	393	c.199C>T	c.(199-201)CGA>TGA	p.R67*	BRAP_uc010syh.1_5'Flank|BRAP_uc009zvv.2_Nonsense_Mutation_p.R37*|ACAD10_uc009zvw.2_5'Flank|ACAD10_uc001tso.3_5'Flank|ACAD10_uc001tsp.2_5'Flank|ACAD10_uc009zvx.2_5'Flank|ACAD10_uc001tsq.2_5'Flank	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	67					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			lung(1)	1						GTCATTTCTCGACGGCCGAGA	0.453												
ACAD10	80724	broad.mit.edu	37	12	112150444	112150444	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:112150444T>A	uc001tsq.2	+	6	1033	c.833T>A	c.(832-834)CTG>CAG	p.L278Q	ACAD10_uc001tso.3_Missense_Mutation_p.L278Q|ACAD10_uc001tsp.2_Missense_Mutation_p.L278Q|ACAD10_uc009zvx.2_Missense_Mutation_p.L309Q|ACAD10_uc001tsr.2_Missense_Mutation_p.L16Q|ACAD10_uc001tss.1_5'Flank	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	278							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						AAAGACTTACTGGGTATCCAG	0.438												
NAA25	80018	broad.mit.edu	37	12	112498103	112498103	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:112498103T>C	uc001ttm.2	-	13	1438	c.1418A>G	c.(1417-1419)CAT>CGT	p.H473R	NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.H445R|NAA25_uc009zwa.1_Missense_Mutation_p.H473R	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	473						cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						AATAAGCGCATGGACAGCAAG	0.333												
C12orf51	283450	broad.mit.edu	37	12	112711476	112711476	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:112711476A>C	uc009zwc.2	-	4	647	c.629T>G	c.(628-630)ATT>AGT	p.I210S	C12orf51_uc010syk.1_Missense_Mutation_p.I33S|C12orf51_uc001tts.2_Missense_Mutation_p.I33S|C12orf51_uc001ttt.3_Missense_Mutation_p.I33S	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						CTCAGTGATAATGTGACTGAC	0.433												
DDX54	79039	broad.mit.edu	37	12	113603672	113603672	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:113603672G>A	uc001tup.2	-	13	1608	c.1580C>T	c.(1579-1581)TCG>TTG	p.S527L	DDX54_uc001tuq.3_Missense_Mutation_p.S527L	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	527					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3						GGACTCAGGCGAGGGCGCCGG	0.662												
TAOK3	51347	broad.mit.edu	37	12	118636898	118636898	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:118636898G>A	uc001twx.2	-	13	1447	c.1152C>T	c.(1150-1152)GAC>GAT	p.D384D	TAOK3_uc001tww.2_Silent_p.D214D|TAOK3_uc001twy.3_Silent_p.D384D	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	384	Ser-rich.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTGTGCTTTCGTCATCGTGCA	0.502												
TAOK3	51347	broad.mit.edu	37	12	118637023	118637023	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:118637023T>C	uc001twx.2	-	13	1322	c.1027A>G	c.(1027-1029)AGC>GGC	p.S343G	TAOK3_uc001tww.2_Missense_Mutation_p.S173G|TAOK3_uc001twy.3_Missense_Mutation_p.S343G	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	343	Ser-rich.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGCCCAGGCTGTCCATTTCC	0.493												
SRRM4	84530	broad.mit.edu	37	12	119592100	119592100	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:119592100C>T	uc001txa.1	+	12	1736	c.1444C>T	c.(1444-1446)CGA>TGA	p.R482*		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	482	Ser-rich.|Arg-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2						GGAGCGCGAGCGAGCGCGTCG	0.667												
CCDC60	160777	broad.mit.edu	37	12	119773056	119773056	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:119773056G>A	uc001txe.2	+	1	540	c.75G>A	c.(73-75)TCG>TCA	p.S25S		NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	25										ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TTTATGCCTCGGAGAACCTAA	0.408												
SPPL3	121665	broad.mit.edu	37	12	121206174	121206174	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:121206174G>A	uc001tzd.2	-	8	1208	c.727C>T	c.(727-729)CGT>TGT	p.R243C	SPPL3_uc009zwz.2_Missense_Mutation_p.R236C|SPPL3_uc001tzc.2_Missense_Mutation_p.R73C	NM_139015	NP_620584	Q8TCT6	PSL4_HUMAN	signal peptide peptidase 3	244						integral to membrane	aspartic-type endopeptidase activity				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGAACATCACGCCCAACATTG	0.547												
VPS33A	65082	broad.mit.edu	37	12	122750936	122750936	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:122750936T>C	uc001ucd.2	-	1	133	c.20A>G	c.(19-21)TAC>TGC	p.Y7C	VPS33A_uc001ucc.2_RNA|VPS33A_uc001uce.2_Missense_Mutation_p.Y7C	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33A	7					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)		CACTCGGCCGTAGGACAGATG	0.662												
PITPNM2	57605	broad.mit.edu	37	12	123480010	123480010	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:123480010T>C	uc001uej.1	-	13	2119	c.1980A>G	c.(1978-1980)CAA>CAG	p.Q660Q	PITPNM2_uc001uek.1_Silent_p.Q660Q	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein,	660					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGCGGGGCAGTTGCCTTTTGG	0.602												
DNAH10	196385	broad.mit.edu	37	12	124267714	124267714	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:124267714C>T	uc001uft.3	+	7	744	c.719C>T	c.(718-720)GCT>GTT	p.A240V		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	240	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GACCTGGCAGCTGACCCGGAA	0.478												
DNAH10	196385	broad.mit.edu	37	12	124330559	124330559	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:124330559G>A	uc001uft.3	+	31	5343	c.5318G>A	c.(5317-5319)CGG>CAG	p.R1773Q		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1773	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGTCAGTTGCGGTTTTATTGG	0.572												
TMEM132B	114795	broad.mit.edu	37	12	126138173	126138173	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:126138173C>T	uc001uhe.1	+	9	2162	c.2154C>T	c.(2152-2154)TAC>TAT	p.Y718Y	TMEM132B_uc001uhf.1_Silent_p.Y230Y	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	718	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TAGACATTTACGATCCTAAGG	0.403												
FZD10	11211	broad.mit.edu	37	12	130648605	130648605	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:130648605G>A	uc001uii.2	+	1	1574	c.1118G>A	c.(1117-1119)CGC>CAC	p.R373H	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	373	Extracellular (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(3)|breast(1)|central_nervous_system(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CTGGTCATGCGCAGGGTGGCG	0.652												
RIMBP2	23504	broad.mit.edu	37	12	130929742	130929742	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:130929742G>A	uc001uil.2	-	7	767	c.603C>T	c.(601-603)TAC>TAT	p.Y201Y	RIMBP2_uc001uim.2_Silent_p.Y109Y|RIMBP2_uc001uin.1_5'Flank	NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	201	SH3 1.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CTCCATAGACGTAGAGGTATT	0.552												
CHFR	55743	broad.mit.edu	37	12	133435665	133435665	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:133435665G>A	uc001ulf.2	-	8	1020	c.936C>T	c.(934-936)CAC>CAT	p.H312H	CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Silent_p.H300H|CHFR_uc010tbs.1_Silent_p.H312H|CHFR_uc001uld.2_Silent_p.H271H|CHFR_uc010tbt.1_Silent_p.H220H	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains	312	RING-type.				cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TCACGCAGTCGTGCAGCAGGT	0.612												
LATS2	26524	broad.mit.edu	37	13	21562745	21562745	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:21562745C>T	uc009zzs.2	-	4	1539	c.1174G>A	c.(1174-1176)GCG>ACG	p.A392T	LATS2_uc001unr.3_Missense_Mutation_p.A392T	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	392					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)		GCCACGTGCGCGCGCGGCGGC	0.731												
C1QTNF9	338872	broad.mit.edu	37	13	24892987	24892987	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:24892987G>T	uc001upj.2	+	3	259	c.198G>T	c.(196-198)AAG>AAT	p.K66N	C1QTNF9_uc001upe.2_RNA	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	66	Collagen-like 1.					collagen	hormone activity				0		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GCCCGGGGAAGGATGGGACGA	0.463												
MTMR6	9107	broad.mit.edu	37	13	25848300	25848300	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:25848300C>T	uc001uqf.3	-	2	369	c.50G>A	c.(49-51)CGA>CAA	p.R17Q	MTMR6_uc001uqe.1_Missense_Mutation_p.R17Q	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	17						cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)|skin(2)	4		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		GGTACTGAATCGGTCAAGTAA	0.333												
POLR1D	51082	broad.mit.edu	37	13	28197194	28197194	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:28197194A>G	uc010tdm.1	+	3	1239	c.209A>G	c.(208-210)TAC>TGC	p.Y70C	LNX2_uc001url.3_5'Flank|LNX2_uc001urm.1_5'Flank|POLR1D_uc010aam.2_Intron|POLR1D_uc001urq.2_Intron|POLR1D_uc001uro.2_Missense_Mutation_p.Y70C|POLR1D_uc001urp.2_Intron	NM_015972	NP_057056	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D isoform 1	70					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity				0		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		TTTTGTGGTTACACTACGACC	0.448												
HSPH1	10808	broad.mit.edu	37	13	31711655	31711655	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:31711655T>C	uc001utj.2	-	18	2775	c.2377A>G	c.(2377-2379)AAC>GAC	p.N793D	HSPH1_uc001utk.2_Missense_Mutation_p.N749D|HSPH1_uc010aaw.2_Missense_Mutation_p.N752D|HSPH1_uc001utl.2_Missense_Mutation_p.N795D|HSPH1_uc010tds.1_Missense_Mutation_p.N717D	NM_006644	NP_006635	Q92598	HS105_HUMAN	heat shock 105kD	793					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding				0		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CATGTGTTGTTCAATTCCTAA	0.358												
FRY	10129	broad.mit.edu	37	13	32841309	32841309	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:32841309T>C	uc001utx.2	+	55	8445	c.7949T>C	c.(7948-7950)TTT>TCT	p.F2650S	FRY_uc010tdw.1_RNA|FRY_uc001uty.2_Missense_Mutation_p.F205S|FRY_uc001utz.2_Missense_Mutation_p.F175S|FRY_uc010tdx.1_Missense_Mutation_p.F20S	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	2650					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)		TTTTCCAGCTTTGGAGAAGGT	0.512												
STARD13	90627	broad.mit.edu	37	13	33686968	33686968	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:33686968G>A	uc001uuw.2	-	9	2508	c.2382C>T	c.(2380-2382)AAC>AAT	p.N794N	STARD13_uc001uuu.2_Silent_p.N786N|STARD13_uc001uuv.2_Silent_p.N676N|STARD13_uc001uux.2_Silent_p.N759N|STARD13_uc010tec.1_RNA	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	794	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TGACGACGTCGTTCAGGAAAC	0.532												
RFC3	5983	broad.mit.edu	37	13	34409330	34409330	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:34409330T>C	uc001uuz.2	+	8	965	c.855T>C	c.(853-855)TGT>TGC	p.C285C	RFC3_uc001uva.2_Silent_p.C285C|RFC3_uc010ted.1_Silent_p.C285C	NM_002915	NP_002906	P40938	RFC3_HUMAN	replication factor C 3 isoform 1	285					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)		TAACTCATTGTATTCCTCCTG	0.353												
FREM2	341640	broad.mit.edu	37	13	39448722	39448722	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:39448722C>T	uc001uwv.2	+	18	8589	c.8280C>T	c.(8278-8280)CCC>CCT	p.P2760P		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2760	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)		TGTCACATCCCGGTAAGCCCC	0.498												
C13orf23	80209	broad.mit.edu	37	13	39586878	39586878	+	Silent	SNP	G	G	A	rs148439666	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:39586878G>A	uc001uwy.2	-	11	3384	c.2511C>T	c.(2509-2511)TTC>TTT	p.F837F	C13orf23_uc001uwz.2_Silent_p.F815F	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	hypothetical protein LOC80209 isoform 1	837										ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)		ATGCTGAGGCGAATCCTGGGA	0.532												
KIAA1704	55425	broad.mit.edu	37	13	45602033	45602033	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:45602033T>C	uc001uzq.2	+	8	1021	c.918T>C	c.(916-918)GAT>GAC	p.D306D	KIAA1704_uc001uzr.1_Silent_p.D306D|KIAA1704_uc001uzs.2_Silent_p.D183D|KIAA1704_uc001uzt.2_Silent_p.D157D	NM_018559	NP_061029	Q8IXQ4	K1704_HUMAN	hypothetical protein LOC55425	306										pancreas(1)|skin(1)	2		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		GTGATAAAGATCTCAAGGTTA	0.348												
RB1	5925	broad.mit.edu	37	13	48955538	48955538	+	Nonsense_Mutation	SNP	C	C	T	rs121913303		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:48955538C>T	uc001vcb.2	+	17	1820	c.1654C>T	c.(1654-1656)CGA>TGA	p.R552*		NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	552	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(7)|p.R552*(5)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACATTTAGAACGATGTGAACA	0.323	R552*(NCIH1048_LUNG)	6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)		
UTP14C	9724	broad.mit.edu	37	13	52604660	52604660	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:52604660G>A	uc001vgb.2	+	2	2255	c.1720G>A	c.(1720-1722)GCA>ACA	p.A574T	UTP14C_uc001vgc.2_RNA	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	574					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				ovary(3)|large_intestine(1)|breast(1)	5		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GAGGTCTTTGGCAGTTCCCAC	0.463												
THSD1	55901	broad.mit.edu	37	13	52952340	52952340	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:52952340A>T	uc001vgo.2	-	5	2310	c.1765T>A	c.(1765-1767)TCC>ACC	p.S589T	THSD1_uc001vgp.2_Missense_Mutation_p.S536T|THSD1_uc010tgz.1_Missense_Mutation_p.S210T|THSD1_uc010aea.2_Missense_Mutation_p.S50T	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	589	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)		GGAAATGGGGATTTGATCCGG	0.587												
PCDH17	27253	broad.mit.edu	37	13	58208417	58208417	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:58208417C>T	uc001vhq.1	+	1	2629	c.1737C>T	c.(1735-1737)AAC>AAT	p.N579N	PCDH17_uc010aec.1_Silent_p.N579N	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	579	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGAATGACAACGCGCCAGTGA	0.642												
PCDH17	27253	broad.mit.edu	37	13	58299089	58299089	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:58299089C>T	uc001vhq.1	+	4	4033	c.3141C>T	c.(3139-3141)TGC>TGT	p.C1047C	PCDH17_uc010aec.1_Silent_p.C1046C|PCDH17_uc001vhr.1_Silent_p.C136C	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	1047	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCGAGCCTTGCACCTCAACAA	0.532												
SLITRK1	114798	broad.mit.edu	37	13	84453562	84453562	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:84453562A>T	uc001vlk.2	-	1	2967	c.2081T>A	c.(2080-2082)CTC>CAC	p.L694H		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	694	Cytoplasmic (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)		TTAGTCTGAGAGCGAGTGAGA	0.582												
SLC10A2	6555	broad.mit.edu	37	13	103703715	103703715	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:103703715C>A	uc001vpy.3	-	4	1250	c.653G>T	c.(652-654)AGC>ATC	p.S218I		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid	218	Cytoplasmic (Potential).				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			ovary(3)|skin(1)	4	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GATCCAGGCGCTTTGGTACAA	0.478												
ARGLU1	55082	broad.mit.edu	37	13	107220225	107220225	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:107220225T>C	uc001vqk.3	-	1	290	c.43A>G	c.(43-45)ACC>GCC	p.T15A		NM_018011	NP_060481	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	15	Arg-rich.										0	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CTGCTCTTGGTGTGCTTGGAG	0.657												
MYO16	23026	broad.mit.edu	37	13	109793685	109793685	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:109793685C>T	uc001vqt.1	+	32	5185	c.5059C>T	c.(5059-5061)CGG>TGG	p.R1687W	MYO16_uc010agk.1_Missense_Mutation_p.R1709W	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1687					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)			GAGTGTGCTTCGGAAATCCGC	0.637												
COL4A1	1282	broad.mit.edu	37	13	110829295	110829295	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:110829295C>A	uc001vqw.3	-	34	2928	c.2806G>T	c.(2806-2808)GGC>TGC	p.G936C	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	936	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCCATGGAGCCAGGCTTGCCA	0.592												
PROZ	8858	broad.mit.edu	37	13	113826335	113826335	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:113826335G>A	uc001vta.1	+	8	1126	c.1119G>A	c.(1117-1119)TCG>TCA	p.S373S	PROZ_uc010agr.1_Silent_p.S395S	NM_003891	NP_003882	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma	373	Peptidase S1.				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion 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_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	TCCTGGGCTCGCAGCCAGTAG	0.552												
TEP1	7011	broad.mit.edu	37	14	20846923	20846923	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:20846923C>A	uc001vxe.2	-	37	5382	c.5342G>T	c.(5341-5343)GGA>GTA	p.G1781V	TEP1_uc010ahk.2_Missense_Mutation_p.G1124V|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.G1673V|TEP1_uc010tlh.1_Missense_Mutation_p.G119V	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1781	WD 4.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CTTTAGGCATCCTCCCAAGCA	0.582												
RNASE10	338879	broad.mit.edu	37	14	20978775	20978775	+	Missense_Mutation	SNP	T	T	G	rs147896742		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:20978775T>G	uc010tlj.1	+	1	145	c.145T>G	c.(145-147)TCA>GCA	p.S49A	RNASE10_uc001vxp.2_Missense_Mutation_p.S77A	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	49						extracellular region	nucleic acid binding|pancreatic ribonuclease activity				0	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		GTCCAGTGACTCACAGGACAA	0.433												
CHD8	57680	broad.mit.edu	37	14	21861975	21861975	+	Silent	SNP	A	A	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:21861975A>C	uc001was.1	-	32	5236	c.5142T>G	c.(5140-5142)ACT>ACG	p.T1714T	CHD8_uc001war.1_Silent_p.T1610T|SNORD9_uc001wat.1_5'Flank	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1993					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)		GTGGTGAGGCAGTGCGTGAGG	0.552												
RAB2B	84932	broad.mit.edu	37	14	21944703	21944703	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:21944703G>A	uc010tlt.1	-	2	203	c.102C>T	c.(100-102)GTC>GTT	p.V34V	RAB2B_uc010tls.1_5'UTR|RAB2B_uc001wax.2_5'UTR|RAB2B_uc010ain.2_5'UTR|TOX4_uc001way.2_5'Flank|TOX4_uc001waz.2_5'Flank|TOX4_uc001wba.2_5'Flank|TOX4_uc010tlu.1_5'Flank	NM_032846	NP_116235	Q8WUD1	RAB2B_HUMAN	RAB2B protein isoform 1	34					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|plasma membrane	GTP binding			ovary(1)	1	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		TGAGGTCGTGGACAGGCTGGA	0.478												
IL25	64806	broad.mit.edu	37	14	23845042	23845042	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:23845042C>T	uc001wjr.2	+	2	797	c.487C>T	c.(487-489)CGT>TGT	p.R163C	IL25_uc001wjq.2_Missense_Mutation_p.R147C|CMTM5_uc001wjs.2_5'Flank|CMTM5_uc001wjt.2_5'Flank|CMTM5_uc010akm.2_5'Flank|CMTM5_uc010akn.2_5'Flank|CMTM5_uc001wju.2_5'Flank|CMTM5_uc010ako.2_5'Flank	NM_022789	NP_073626	Q9H293	IL25_HUMAN	interleukin 25 isoform 1 precursor	163					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			ovary(1)	1	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		CAGGCTGTACCGTGTTTCCTT	0.612												
NFATC4	4776	broad.mit.edu	37	14	24839415	24839415	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:24839415T>C	uc001wpc.2	+	2	1132	c.811T>C	c.(811-813)TAT>CAT	p.Y271H	NFATC4_uc010tok.1_Missense_Mutation_p.Y334H|NFATC4_uc010tol.1_Missense_Mutation_p.Y334H|NFATC4_uc010alr.2_Missense_Mutation_p.Y334H|NFATC4_uc010als.2_Missense_Mutation_p.Y284H|NFATC4_uc010tom.1_Missense_Mutation_p.Y284H|NFATC4_uc010ton.1_Missense_Mutation_p.Y284H|NFATC4_uc010too.1_Missense_Mutation_p.Y284H|NFATC4_uc010alt.2_Missense_Mutation_p.Y303H|NFATC4_uc010top.1_Missense_Mutation_p.Y303H|NFATC4_uc010toq.1_Missense_Mutation_p.Y303H|NFATC4_uc010alu.2_Intron|NFATC4_uc010tor.1_Missense_Mutation_p.Y271H|NFATC4_uc010tos.1_Missense_Mutation_p.Y201H|NFATC4_uc010tot.1_Missense_Mutation_p.Y259H|NFATC4_uc010tou.1_Missense_Mutation_p.Y201H|NFATC4_uc010tov.1_Missense_Mutation_p.Y259H|NFATC4_uc010tow.1_Missense_Mutation_p.Y201H|NFATC4_uc010alv.2_Missense_Mutation_p.Y259H|NFATC4_uc010tox.1_Missense_Mutation_p.Y201H|NFATC4_uc001wpd.2_5'Flank|NFATC4_uc010toy.1_5'Flank|NFATC4_uc010toz.1_5'Flank	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	271	Pro-rich.|2 approximate SP repeats.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(265;0.018)		CAAGCGGCGCTATTCCAGCTC	0.697												
SCFD1	23256	broad.mit.edu	37	14	31177207	31177207	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:31177207G>A	uc001wqm.1	+	19	1589	c.1565G>A	c.(1564-1566)CGA>CAA	p.R522Q	SCFD1_uc001wqn.1_Missense_Mutation_p.R455Q|SCFD1_uc010tpg.1_Missense_Mutation_p.R463Q|SCFD1_uc010tph.1_Missense_Mutation_p.R337Q|SCFD1_uc010amf.1_Missense_Mutation_p.R337Q|SCFD1_uc010tpi.1_Missense_Mutation_p.R430Q|SCFD1_uc010amd.1_Intron|SCFD1_uc010ame.1_Missense_Mutation_p.R455Q	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	vesicle transport-related protein isoform a	522					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding				0	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CTTTTATCACGAGTCATGAAT	0.378												
INSM2	84684	broad.mit.edu	37	14	36003563	36003563	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:36003563G>A	uc001wth.1	+	1	316	c.105G>A	c.(103-105)CCG>CCA	p.P35P		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	insulinoma-associated protein IA-6	35					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|skin(1)	2	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		AGGGGGCGCCGCCCTTCTTGG	0.692												
PAX9	5083	broad.mit.edu	37	14	37135670	37135670	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:37135670G>A	uc001wty.3	+	4	1352	c.635G>A	c.(634-636)AGC>AAC	p.S212N	PAX9_uc010amq.2_RNA	NM_006194	NP_006185	P55771	PAX9_HUMAN	paired box 9	212					multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		CCATCAGTGAGCGACAGCTCC	0.692												
SSTR1	6751	broad.mit.edu	37	14	38679010	38679010	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:38679010T>G	uc001wul.1	+	3	1033	c.416T>G	c.(415-417)GTC>GGC	p.V139G	SSTR1_uc010amu.1_Intron	NM_001049	NP_001040	P30872	SSR1_HUMAN	somatostatin receptor 1	139	Helical; Name=3; (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			central_nervous_system(3)|ovary(1)|lung(1)	5	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GTGGACGCGGTCAACATGTTC	0.652												
MIA2	117153	broad.mit.edu	37	14	39716566	39716566	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:39716566A>G	uc001wux.2	+	4	982	c.788A>G	c.(787-789)GAC>GGC	p.D263G	MIA2_uc010amy.1_Missense_Mutation_p.D194G	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	263						extracellular region				ovary(1)|breast(1)	2	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		GATGAGAATGACCTAGAGGAA	0.393												
KLHL28	54813	broad.mit.edu	37	14	45414260	45414260	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:45414260T>C	uc001wvq.2	-	2	1118	c.872A>G	c.(871-873)AAA>AGA	p.K291R	KLHL28_uc001wvr.2_Missense_Mutation_p.K291R|KLHL28_uc001wvt.3_Missense_Mutation_p.K291R	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	BTB (POZ) domain containing 5	291	Kelch 1.									ovary(1)	1						GAGTCCAGATTTCCCTCCTAC	0.388												
PSMC6	5706	broad.mit.edu	37	14	53177863	53177863	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:53177863T>C	uc010tqx.1	+	5	345	c.345T>C	c.(343-345)GAT>GAC	p.D115D	PSMC6_uc010tqw.1_Silent_p.D81D	NM_002806	NP_002797	P62333	PRS10_HUMAN	proteasome 26S ATPase subunit 6	101					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			lung(1)	1	Breast(41;0.176)					TTGCTTTGGATATGACTACAC	0.333												
DAAM1	23002	broad.mit.edu	37	14	59819321	59819321	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:59819321G>T	uc001xdz.1	+	19	2393	c.2268G>T	c.(2266-2268)AAG>AAT	p.K756N	DAAM1_uc001xea.1_Missense_Mutation_p.K746N|DAAM1_uc001xec.1_5'Flank	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	dishevelled-associated activator of	756	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GGATGGCCAAGGCTGATAGGT	0.393												
HSPA2	3306	broad.mit.edu	37	14	65009256	65009256	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:65009256C>T	uc001xhj.2	+	2	1765	c.1689C>T	c.(1687-1689)GGC>GGT	p.G563G	HSPA2_uc001xhk.3_Silent_p.G563G	NM_021979	NP_068814	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	563					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			skin(1)	1				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		AACTGAGGGGCAAGATTAGCG	0.522												
C14orf50	145376	broad.mit.edu	37	14	65055877	65055877	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:65055877A>G	uc001xhl.1	+	12	1186	c.1090A>G	c.(1090-1092)ATC>GTC	p.I364V	C14orf50_uc001xhm.1_Missense_Mutation_p.I94V	NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	hypothetical protein LOC145376	364										skin(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00382)|all cancers(60;0.00427)|BRCA - Breast invasive adenocarcinoma(234;0.0488)		CAGAGTTGGCATCTTGGGGGA	0.423												
FNTB	2342	broad.mit.edu	37	14	65507524	65507524	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:65507524G>T	uc001xia.2	+	8	874	c.709G>T	c.(709-711)GGT>TGT	p.G237C	FNTB_uc010tsl.1_Missense_Mutation_p.G271C|FNTB_uc010tsm.1_Missense_Mutation_p.G191C|MAX_uc001xic.1_Intron|FNTB_uc001xid.2_Translation_Start_Site|FNTB_uc010tso.1_Missense_Mutation_p.G152C	NM_002028	NP_002019	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	237	PFTB 3.				protein farnesylation	microtubule associated complex	protein binding|protein farnesyltransferase activity			ovary(1)	1				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GAACTGGGAAGGTGGCATTGG	0.532												
C14orf181	400223	broad.mit.edu	37	14	69262698	69262698	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:69262698G>A	uc001xkj.1	-	1	493	c.314C>T	c.(313-315)GCC>GTC	p.A105V	ZFP36L1_uc001xkh.1_5'Flank|ZFP36L1_uc001xki.1_5'Flank	NM_207442	NP_997325			hypothetical protein LOC400223												0				all cancers(60;0.002)|BRCA - Breast invasive adenocarcinoma(234;0.00204)|OV - Ovarian serous cystadenocarcinoma(108;0.0399)		GAAGGCCGAGGCGAGGCGTGC	0.756												
ALDH6A1	4329	broad.mit.edu	37	14	74551092	74551092	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:74551092C>T	uc001xpo.2	-	1	105	c.6G>A	c.(4-6)GCG>GCA	p.A2A	LIN52_uc001xpp.2_5'Flank|LIN52_uc010asb.2_5'Flank|ALDH6A1_uc010asa.2_5'UTR|ALDH6A1_uc010tuq.1_Silent_p.A2A	NM_005589	NP_005580	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6A1 precursor	2						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	CCAATAGCGCCGCCATGGCTC	0.672												
LTBP2	4053	broad.mit.edu	37	14	74968213	74968213	+	Missense_Mutation	SNP	C	C	T	rs149242944		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:74968213C>T	uc001xqa.2	-	35	5638	c.5251G>A	c.(5251-5253)GTG>ATG	p.V1751M		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	1751	EGF-like 19; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CCCTCCCGCACGCGCACACAG	0.622											OREG0022805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TTLL5	23093	broad.mit.edu	37	14	76156621	76156621	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:76156621T>C	uc001xrx.2	+	6	663	c.458T>C	c.(457-459)CTC>CCC	p.L153P	TTLL5_uc001xrw.1_Missense_Mutation_p.L153P|TTLL5_uc010ask.1_Missense_Mutation_p.L153P	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	153	TTL.				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)		TTTCACATCCTCCCCCAGACC	0.458												
DIO2	1734	broad.mit.edu	37	14	80669474	80669474	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:80669474T>G	uc010tvq.1	-	3	782	c.380A>C	c.(379-381)AAC>ACC	p.N127T	DIO2_uc010tvp.1_Missense_Mutation_p.N163T|DIO2_uc001xut.2_RNA|DIO2_uc010asx.2_3'UTR|DIO2_uc010tvr.1_Missense_Mutation_p.N127T|DIO2_uc010asy.2_Missense_Mutation_p.N127T	NM_000793	NP_000784	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II isoform a	127					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0281)		TGAGCCAAAGTTGACCACTAG	0.567											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C14orf145	145508	broad.mit.edu	37	14	80963868	80963868	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:80963868A>G	uc001xux.2	-	24	3410	c.3239T>C	c.(3238-3240)ATG>ACG	p.M1080T	C14orf145_uc010asz.1_Intron	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	1080						centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)		TGTTCCATTCATTGTGGCATC	0.328												
SEL1L	6400	broad.mit.edu	37	14	81952771	81952771	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:81952771G>A	uc010tvv.1	-	17	1777	c.1660C>T	c.(1660-1662)CGT>TGT	p.R554C		NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like precursor	554	Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.|Sel1-like 9.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TCAGACCAACGGCCTCGTTCA	0.408												
ADSSL1	122622	broad.mit.edu	37	14	105207519	105207519	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:105207519C>T	uc001ypd.2	+	8	806	c.732C>T	c.(730-732)CAC>CAT	p.H244H	INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Silent_p.H287H|ADSSL1_uc001ypf.2_RNA	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1 isoform 2	244					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			ovary(1)|central_nervous_system(1)	2		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	AGGCACTCCACGGCCCCCCCA	0.592												
PACS2	23241	broad.mit.edu	37	14	105834470	105834470	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:105834470G>A	uc001yqt.2	+	6	821	c.646G>A	c.(646-648)GCC>ACC	p.A216T	PACS2_uc001yqs.2_Missense_Mutation_p.A149T|PACS2_uc001yqv.2_Missense_Mutation_p.A216T|PACS2_uc001yqu.2_Missense_Mutation_p.A216T	NM_015197	NP_056012	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	216					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				pancreas(1)	1		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CAGTGACGACGCCGTGCAGGG	0.647												
ATP10A	57194	broad.mit.edu	37	15	25961952	25961952	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:25961952G>A	uc010ayu.2	-	9	1807	c.1701C>T	c.(1699-1701)GAC>GAT	p.D567D		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	567	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AATCAAAGACGTCAGACAGCT	0.577												
HERC2	8924	broad.mit.edu	37	15	28413654	28413654	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:28413654C>T	uc001zbj.2	-	67	10418	c.10312G>A	c.(10312-10314)GAC>AAC	p.D3438N		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3438					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCAGATGCGTCGGAAGGGGCC	0.577												
MTMR15	22909	broad.mit.edu	37	15	31217442	31217442	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:31217442T>C	uc001zff.2	+	9	2576	c.2285T>C	c.(2284-2286)TTC>TCC	p.F762S	MTMR15_uc001zfe.2_Missense_Mutation_p.F367S	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	myotubularin related protein 15 isoform a	762					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding				0		all_lung(180;2.23e-09)		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)		TGTAAAAAGTTCAAGCACCTC	0.567								Direct_reversal_of_damage|Editing_and_processing_nucleases				
RYR3	6263	broad.mit.edu	37	15	34130198	34130198	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:34130198C>A	uc001zhi.2	+	89	12087	c.12017C>A	c.(12016-12018)CCA>CAA	p.P4006Q	RYR3_uc010bar.2_Missense_Mutation_p.P4001Q	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	4006					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)		GAACACATGCCAAACGATTCC	0.463												
RYR3	6263	broad.mit.edu	37	15	34150100	34150100	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:34150100C>T	uc001zhi.2	+	99	14197	c.14127C>T	c.(14125-14127)TGC>TGT	p.C4709C	RYR3_uc010bar.2_Silent_p.C4704C	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	4709				C -> R (in Ref. 6; CAA52326).	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)		ATATGAAGTGCGACGACATGA	0.592												
FSIP1	161835	broad.mit.edu	37	15	39910003	39910003	+	Silent	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:39910003A>G	uc001zki.2	-	11	1850	c.1632T>C	c.(1630-1632)GGT>GGC	p.G544G		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	544										ovary(2)|skin(1)	3		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TCACACTGATACCATACAGTG	0.413												
C15orf56	644809	broad.mit.edu	37	15	40544718	40544718	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:40544718C>A	uc001zla.1	-	2	275	c.254G>T	c.(253-255)CGG>CTG	p.R85L	PAK6_uc010bbl.2_Intron|PAK6_uc010bbm.2_Intron|PAK6_uc001zky.3_Intron|PAK6_uc010bbn.2_Intron|PAK6_uc001zlb.2_5'Flank	NM_001039905	NP_001034994	Q8N910	CO056_HUMAN	hypothetical protein LOC644809	85											0		all_cancers(109;1.62e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;3.4e-09)|all_lung(180;6.88e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.28e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0503)		GGTTCGCCGCCGCGTCCTACC	0.672												
DISP2	85455	broad.mit.edu	37	15	40659529	40659529	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:40659529A>G	uc001zlk.1	+	8	1305	c.1216A>G	c.(1216-1218)AGT>GGT	p.S406G		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	406					smoothened signaling pathway	integral to membrane				ovary(2)	2		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CTCCCAGAGTAGTGCCATCTA	0.577												
DISP2	85455	broad.mit.edu	37	15	40659761	40659761	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:40659761A>G	uc001zlk.1	+	8	1537	c.1448A>G	c.(1447-1449)CAC>CGC	p.H483R		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	483	SSD.				smoothened signaling pathway	integral to membrane				ovary(2)	2		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CTGCTGAGGCACTTCCTGGTC	0.617												
BAHD1	22893	broad.mit.edu	37	15	40756744	40756744	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:40756744G>A	uc001zlu.2	+	5	2121	c.2050G>A	c.(2050-2052)GAG>AAG	p.E684K	BAHD1_uc001zlt.2_Missense_Mutation_p.E683K|BAHD1_uc010bbp.1_Missense_Mutation_p.E683K|BAHD1_uc001zlv.2_Missense_Mutation_p.E684K	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	684	BAH.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding				0		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CAGCATGCACGAGGTGAGCTG	0.582												
RPAP1	26015	broad.mit.edu	37	15	41812706	41812706	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:41812706G>T	uc001zod.2	-	22	3802	c.3678C>A	c.(3676-3678)CAC>CAA	p.H1226Q	RPAP1_uc001zoc.2_Missense_Mutation_p.H245Q	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1226	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCCCAAAGAGGTGGTCCCCAA	0.592												
PLA2G4F	255189	broad.mit.edu	37	15	42439390	42439390	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:42439390G>A	uc001zoz.2	-	13	1414	c.1351C>T	c.(1351-1353)CGC>TGC	p.R451C	PLA2G4F_uc010bcq.2_5'Flank|PLA2G4F_uc001zoy.2_Missense_Mutation_p.R83C|PLA2G4F_uc010bcr.2_Missense_Mutation_p.R202C|PLA2G4F_uc001zpa.2_Missense_Mutation_p.R202C|PLA2G4F_uc010bcs.2_Missense_Mutation_p.R238C	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	451	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			ovary(4)	4		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TGGCCACTGCGCTCCCGGACC	0.587												
TGM7	116179	broad.mit.edu	37	15	43577065	43577065	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:43577065C>T	uc001zrf.1	-	7	956	c.951G>A	c.(949-951)ACG>ACA	p.T317T		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	transglutaminase 7	317					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)	2		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;9.14e-07)	L-Glutamine(DB00130)	GGTCATAGTACGTATCGATGG	0.458												
DUOX2	50506	broad.mit.edu	37	15	45392018	45392018	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:45392018G>A	uc010bea.2	-	25	3460	c.3257C>T	c.(3256-3258)ACG>ATG	p.T1086M	DUOX2_uc001zun.2_Missense_Mutation_p.T1086M	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	1086	Interaction with TXNDC11 (By similarity).|Helical; (Potential).|Ferric oxidoreductase.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|skin(2)|pancreas(1)	5		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GCTGGCCGCCGTGCCTCGTGA	0.567												
FBN1	2200	broad.mit.edu	37	15	48812973	48812973	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:48812973G>A	uc001zwx.1	-	10	1358	c.1030C>T	c.(1030-1032)CGC>TGC	p.R344C		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	344	TB 2.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTAGAGCAGCGCCCGTTTGTC	0.517												
DMXL2	23312	broad.mit.edu	37	15	51837811	51837811	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:51837811C>T	uc002abf.2	-	8	1124	c.899G>A	c.(898-900)AGA>AAA	p.R300K	DMXL2_uc010ufy.1_Missense_Mutation_p.R300K|DMXL2_uc010bfa.2_Missense_Mutation_p.R300K	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	300						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		GTCTTTGTGTCTTCCAGCATG	0.393												
WDR72	256764	broad.mit.edu	37	15	54025236	54025236	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:54025236T>G	uc002acj.2	-	2	153	c.111A>C	c.(109-111)CAA>CAC	p.Q37H	WDR72_uc010bfi.1_Missense_Mutation_p.Q37H	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	37	WD 1.									lung(1)|skin(1)	2				all cancers(107;0.0511)		GCTGACCCTCTTGACTTCCAG	0.502												
UNC13C	440279	broad.mit.edu	37	15	54306737	54306737	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:54306737T>G	uc002ack.2	+	1	1637	c.1637T>G	c.(1636-1638)CTT>CGT	p.L546R		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	546					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACTGCTAAACTTAGTCGTTCT	0.388												
CLPX	10845	broad.mit.edu	37	15	65454965	65454965	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:65454965C>T	uc002aom.2	-	6	764	c.692G>A	c.(691-693)CGG>CAG	p.R231Q	CLPX_uc010uiu.1_RNA|CLPX_uc010bhg.1_Missense_Mutation_p.R231Q	NM_006660	NP_006651	O76031	CLPX_HUMAN	ClpX caseinolytic protease X homolog precursor	231					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding				0						CTCATCCTCCCGTCTTCTTAT	0.373												
SH2D7	646892	broad.mit.edu	37	15	78390803	78390803	+	Silent	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:78390803C>A	uc010blb.1	+	4	510	c.510C>A	c.(508-510)GCC>GCA	p.A170A		NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	170											0						ACCCACCTGCCACGGCATTCC	0.607												
MORF4L1	10933	broad.mit.edu	37	15	79178522	79178522	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:79178522C>T	uc002bel.2	+	5	500	c.312C>T	c.(310-312)TAC>TAT	p.Y104Y	MORF4L1_uc010bli.1_Silent_p.Y65Y|MORF4L1_uc010blj.1_Silent_p.Y65Y|MORF4L1_uc002bem.2_Silent_p.Y65Y|MORF4L1_uc010une.1_Translation_Start_Site	NM_206839	NP_996670	Q9UBU8	MO4L1_HUMAN	MORF-related gene 15 isoform 2	104					double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding				0						TACTCAAATACGTGGACACCA	0.358												
KIAA1024	23251	broad.mit.edu	37	15	79750312	79750312	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:79750312G>A	uc002bew.1	+	2	1898	c.1823G>A	c.(1822-1824)CGG>CAG	p.R608Q	KIAA1024_uc010unk.1_Missense_Mutation_p.R608Q	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	608						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						GAAATTGAACGGAAGCTGGAA	0.507												
IL16	3603	broad.mit.edu	37	15	81575034	81575034	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:81575034T>C	uc002bgh.3	+	9	1512	c.1136T>C	c.(1135-1137)ATC>ACC	p.I379T	IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Missense_Mutation_p.I379T|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.I421T|IL16_uc002bgg.2_Missense_Mutation_p.I379T|IL16_uc002bgi.1_5'UTR	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	379	PDZ 2.|Interaction with GRIN2A.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4						TTCCAATGCATCTCTGGCATT	0.612												
AGBL1	123624	broad.mit.edu	37	15	87531239	87531239	+	Silent	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:87531239G>T	uc002blz.1	+	23	3185	c.3105G>T	c.(3103-3105)CTG>CTT	p.L1035L		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1035					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						ccaatttcctgccaaagcata	0												
MRPS11	64963	broad.mit.edu	37	15	89020277	89020277	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:89020277G>T	uc002bml.2	+	5	734	c.469G>T	c.(469-471)GGA>TGA	p.G157*	MRPS11_uc002bmm.2_Nonsense_Mutation_p.G124*|MRPS11_uc002bmn.2_Nonsense_Mutation_p.G156*|MRPS11_uc010bnj.2_RNA	NM_022839	NP_073750	P82912	RT11_HUMAN	mitochondrial ribosomal protein S11 isoform a	157					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	structural constituent of ribosome				0	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CCTGGGGCCAGGACGCTTGGT	0.502											OREG0023439	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PLIN1	5346	broad.mit.edu	37	15	90213365	90213365	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:90213365G>A	uc010upx.1	-	5	554	c.444C>T	c.(442-444)GCC>GCT	p.A148A	PLIN1_uc002boh.2_Silent_p.A148A	NM_001145311	NP_001138783	O60240	PLIN1_HUMAN	perilipin 1	148					triglyceride catabolic process	lipid particle	lipid binding			central_nervous_system(1)|skin(1)	2						GCTCGCACCCGGCCAAAGCGG	0.642												
IGF1R	3480	broad.mit.edu	37	15	99434645	99434645	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:99434645C>T	uc002bul.2	+	3	782	c.732C>T	c.(730-732)AAC>AAT	p.N244N	IGF1R_uc010urq.1_Silent_p.N244N|IGF1R_uc010bon.2_Silent_p.N244N	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	244					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CGCCTGACAACGACACGGCCT	0.642												
SYNM	23336	broad.mit.edu	37	15	99670901	99670901	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:99670901G>A	uc002bup.2	+	6	2456	c.2336G>A	c.(2335-2337)GGC>GAC	p.G779D	SYNM_uc002buo.2_Missense_Mutation_p.G779D|SYNM_uc002buq.2_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	desmuslin isoform A	779	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			ovary(3)|central_nervous_system(1)	4						GTGTCGCCAGGCCCCTGGGGG	0.552												
DECR2	26063	broad.mit.edu	37	16	461435	461435	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:461435G>A	uc002chb.2	+	8	842	c.736G>A	c.(736-738)GCC>ACC	p.A246T	DECR2_uc002chc.2_Missense_Mutation_p.A162T|DECR2_uc010bqv.2_Missense_Mutation_p.A162T|DECR2_uc002chd.2_Missense_Mutation_p.A162T|DECR2_uc002che.1_RNA	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2	246						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding				0		Hepatocellular(16;0.00015)				GACCGAGATCGCCCACAGCGT	0.672												
CHTF18	63922	broad.mit.edu	37	16	839642	839642	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:839642T>C	uc002cke.3	+	4	596	c.533T>C	c.(532-534)GTC>GCC	p.V178A	RPUSD1_uc002cka.2_5'Flank|RPUSD1_uc002ckb.2_5'Flank|RPUSD1_uc002ckc.2_5'Flank|RPUSD1_uc002ckd.2_5'Flank|CHTF18_uc010uus.1_Missense_Mutation_p.V178A|CHTF18_uc010bre.1_RNA|CHTF18_uc002ckf.3_Missense_Mutation_p.V206A|CHTF18_uc010brf.2_5'UTR|CHTF18_uc002ckg.3_5'UTR	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor	178					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			kidney(1)	1		Hepatocellular(780;0.00335)				GAGGACTACGTCCACGTGACA	0.677												
BAIAP3	8938	broad.mit.edu	37	16	1391358	1391358	+	Missense_Mutation	SNP	G	G	A	rs115052205	by1000genomes	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:1391358G>A	uc002clk.1	+	8	704	c.704G>A	c.(703-705)CGT>CAT	p.R235H	BAIAP3_uc002clj.2_Missense_Mutation_p.R217H|BAIAP3_uc010uuz.1_Missense_Mutation_p.R200H|BAIAP3_uc010uva.1_Missense_Mutation_p.R172H|BAIAP3_uc010uvb.1_Missense_Mutation_p.R252H|BAIAP3_uc010uvc.1_Missense_Mutation_p.R200H	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	235	C2 1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				CGGGAGCCCCGTGCACAGAAG	0.692												
MLST8	64223	broad.mit.edu	37	16	2256519	2256519	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:2256519A>G	uc002coz.2	+	4	322	c.203A>G	c.(202-204)TAT>TGT	p.Y68C	MLST8_uc002coy.2_Missense_Mutation_p.Y68C|MLST8_uc002cpa.2_5'UTR|MLST8_uc002cpb.2_Missense_Mutation_p.Y67C|MLST8_uc010uvx.1_Missense_Mutation_p.Y2C|MLST8_uc002cpc.2_Missense_Mutation_p.Y68C|MLST8_uc002cpd.2_Missense_Mutation_p.Y2C|MLST8_uc002cpe.2_Missense_Mutation_p.Y68C|MLST8_uc010uvy.1_Missense_Mutation_p.Y68C|MLST8_uc002cpg.2_Missense_Mutation_p.Y87C|MLST8_uc002cph.2_RNA|MLST8_uc002cpf.2_Missense_Mutation_p.Y68C	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN	G protein beta subunit-like	68	WD 2.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding				0						ATCCGCATGTATGATCTCAAC	0.537												
ABCA3	21	broad.mit.edu	37	16	2334407	2334407	+	Silent	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:2334407C>A	uc002cpy.1	-	25	4447	c.3735G>T	c.(3733-3735)CTG>CTT	p.L1245L	ABCA3_uc010bsk.1_Silent_p.L1187L	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	1245	Helical; (Potential).				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				ACACGTGATCCAGGGTTTTGG	0.582												
TRAP1	10131	broad.mit.edu	37	16	3724368	3724368	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:3724368A>T	uc002cvt.3	-	9	1105	c.1016T>A	c.(1015-1017)ATC>AAC	p.I339N	TRAP1_uc002cvs.2_Missense_Mutation_p.I130N|TRAP1_uc010uxf.1_Missense_Mutation_p.I286N	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1 precursor	339					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(1)	1		Ovarian(90;0.0261)				GATGCTGCGGATGTTGAGCGG	0.607												
CREBBP	1387	broad.mit.edu	37	16	3789647	3789647	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:3789647G>A	uc002cvv.2	-	25	4416	c.4212C>T	c.(4210-4212)GGC>GGT	p.G1404G	CREBBP_uc002cvw.2_Silent_p.G1366G	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1404	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGACATCCACGCCGTCAATTT	0.488			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome			
CORO7	79585	broad.mit.edu	37	16	4408008	4408008	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:4408008G>A	uc002cwh.3	-	25	2674	c.2554C>T	c.(2554-2556)CCC>TCC	p.P852S	CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.P852S|CORO7_uc002cwg.3_Missense_Mutation_p.P632S|CORO7_uc010uxh.1_Missense_Mutation_p.P834S|CORO7_uc010uxi.1_Missense_Mutation_p.P767S|CORO7_uc002cwi.1_3'UTR	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	852						cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0						AGAAGCCAGGGCTGCCCATTA	0.622												
PPL	5493	broad.mit.edu	37	16	4935287	4935287	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:4935287G>A	uc002cyd.1	-	22	3459	c.3369C>T	c.(3367-3369)GAC>GAT	p.D1123D		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1123	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						CGGTGGCCGCGTCCTTCTCCA	0.622												
KIAA0430	9665	broad.mit.edu	37	16	15711343	15711343	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:15711343C>T	uc002ddr.2	-	14	2963	c.2770G>A	c.(2770-2772)GTC>ATC	p.V924I	KIAA0430_uc002ddq.2_Missense_Mutation_p.V758I|KIAA0430_uc010uzv.1_Missense_Mutation_p.V920I|KIAA0430_uc010uzw.1_Missense_Mutation_p.V923I	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	923						peroxisome	nucleotide binding|RNA binding				0						CGGATTGCGACCGTGTCTGTT	0.493												
SMG1	23049	broad.mit.edu	37	16	18853743	18853743	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:18853743G>A	uc002dfm.2	-	40	6616	c.6253C>T	c.(6253-6255)CGT>TGT	p.R2085C	SMG1_uc010bwb.2_Missense_Mutation_p.R1945C|SMG1_uc010bwa.2_Missense_Mutation_p.R816C|SMG1_uc002dfo.3_Missense_Mutation_p.R383C	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	2085					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						TAACTTGCACGTTTCTGTGCT	0.393												
LOC81691	81691	broad.mit.edu	37	16	20838394	20838394	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:20838394C>T	uc002dhv.2	+	9	1099	c.836C>T	c.(835-837)ACG>ATG	p.T279M	ERI2_uc002dht.3_Intron|LOC81691_uc002dhx.2_Missense_Mutation_p.T279M|LOC81691_uc002dhw.2_Missense_Mutation_p.T22M|LOC81691_uc002dhy.3_Missense_Mutation_p.T279M	NM_030941	NP_112203	Q96IC2	REXON_HUMAN	exonuclease NEF-sp isoform 1	279	Exonuclease.					nucleolus	exonuclease activity|nucleotide binding|RNA binding			ovary(1)|kidney(1)	2						TCGGGAATCACGAAGAAGATT	0.373												
DNAH3	55567	broad.mit.edu	37	16	20981161	20981161	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:20981161A>T	uc010vbe.1	-	52	8411	c.8411T>A	c.(8410-8412)ATC>AAC	p.I2804N	DNAH3_uc010vbd.1_Missense_Mutation_p.I239N	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2804	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CCCTTTCATGATGCAGATGCT	0.597												
DNAH3	55567	broad.mit.edu	37	16	21008636	21008636	+	Silent	SNP	C	C	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:21008636C>G	uc010vbe.1	-	44	6570	c.6570G>C	c.(6568-6570)GGG>GGC	p.G2190G		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2190	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		CCCCGGGGGGCCCCATGGCTG	0.542												
ZP2	7783	broad.mit.edu	37	16	21221008	21221008	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:21221008G>T	uc002dii.2	-	4	274	c.274C>A	c.(274-276)CTG>ATG	p.L92M	ZP2_uc010bwn.1_Missense_Mutation_p.L131M|ZP2_uc010bwo.2_Missense_Mutation_p.L131M	NM_003460	NP_003451	Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 preproprotein	92	Extracellular (Potential).				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(48;0.0573)		TCTGGGTCCAGGATGTAAGTG	0.498												
PRKCB	5579	broad.mit.edu	37	16	23847653	23847653	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:23847653T>G	uc002dmd.2	+	1	354	c.157T>G	c.(157-159)TGC>GGC	p.C53G	PRKCB_uc002dme.2_Missense_Mutation_p.C53G	NM_212535	NP_997700	P05771	KPCB_HUMAN	protein kinase C, beta isoform 1	53	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)	CTGCAGCCACTGCACCGACTT	0.612												
ZNF48	197407	broad.mit.edu	37	16	30410067	30410067	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:30410067G>A	uc002dya.1	+	2	1555	c.1496G>A	c.(1495-1497)CGC>CAC	p.R499H	ZNF48_uc002dxz.1_Missense_Mutation_p.R376H	NM_152652	NP_689865	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	499	C2H2-type 10.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAGCACCTCCGCACCCACCGT	0.627												
ZNF629	23361	broad.mit.edu	37	16	30795220	30795220	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:30795220C>T	uc002dzs.1	-	3	637	c.429G>A	c.(427-429)CCG>CCA	p.P143P		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			CCGCCCCCGCCGGGCGGCCCT	0.706												
ZNF646	9726	broad.mit.edu	37	16	31088406	31088406	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:31088406T>G	uc002eap.2	+	2	1050	c.761T>G	c.(760-762)CTC>CGC	p.L254R	ZNF668_uc002eao.2_5'Flank	NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	254	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						GCCGGGAGCCTCACCAACCAC	0.597												
ITGAD	3681	broad.mit.edu	37	16	31427908	31427908	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:31427908A>G	uc002ebv.1	+	20	2489	c.2440A>G	c.(2440-2442)ACC>GCC	p.T814A	ITGAD_uc010cap.1_Missense_Mutation_p.T815A	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	814	Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1						TTCCTACGGAACCGTGGTCAG	0.617												
IRX5	10265	broad.mit.edu	37	16	54966770	54966770	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:54966770C>T	uc002ehv.2	+	2	610	c.610C>T	c.(610-612)CCC>TCC	p.P204S	IRX5_uc010cca.1_Missense_Mutation_p.P256S|IRX5_uc002ehw.2_Missense_Mutation_p.P138S	NM_005853	NP_005844	P78411	IRX5_HUMAN	iroquois homeobox protein 5	204					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding				0						CGAGGACGAGCCCCAGAAGCC	0.592												
GNAO1	2775	broad.mit.edu	37	16	56362621	56362621	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:56362621A>G	uc002eit.3	+	4	1279	c.382A>G	c.(382-384)ATG>GTG	p.M128V	GNAO1_uc002eiu.3_Missense_Mutation_p.M128V	NM_138736	NP_620073	P09471	GNAO_HUMAN	guanine nucleotide binding protein, alpha	128					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			lung(1)|breast(1)	2		all_neural(199;0.159)				GCTTTCTGCCATGATGCGGCT	0.582												
CNGB1	1258	broad.mit.edu	37	16	57953025	57953025	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:57953025G>A	uc002emt.2	-	20	2000	c.1935C>T	c.(1933-1935)CCC>CCT	p.P645P	CNGB1_uc010cdh.2_Silent_p.P639P	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	645	Cytoplasmic (Potential).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						CAATGCTCTGGGGAAACTGGT	0.567												
MMP15	4324	broad.mit.edu	37	16	58071453	58071453	+	Silent	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:58071453C>A	uc002ena.2	+	2	1213	c.240C>A	c.(238-240)GCC>GCA	p.A80A		NM_002428	NP_002419	P51511	MMP15_HUMAN	matrix metalloproteinase 15 preproprotein	80					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			central_nervous_system(2)|breast(1)	3						AGATCTTGGCCTCGGCCCTTG	0.597												
CMTM1	113540	broad.mit.edu	37	16	66612849	66612849	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:66612849C>T	uc002epi.3	+	4	578	c.455C>T	c.(454-456)CCC>CTC	p.P152L	CMTM1_uc002epb.3_RNA|CMTM1_uc002epc.3_RNA|CMTM1_uc002epd.3_RNA|CMTM1_uc002epe.3_RNA|CMTM1_uc002epf.3_RNA|CMTM1_uc002epg.3_RNA|CMTM1_uc002eph.3_3'UTR|CMTM1_uc002epl.3_Missense_Mutation_p.P105L|CMTM1_uc002epj.3_3'UTR|CMTM1_uc002epk.3_Missense_Mutation_p.P99L|CMTM1_uc002epa.3_3'UTR|CMTM1_uc002epn.3_3'UTR|CMTM1_uc002epo.3_RNA|CMTM1_uc002epp.3_RNA|CMTM1_uc002epq.3_RNA|CMTM1_uc010cds.2_RNA|CMTM1_uc002epr.3_Missense_Mutation_p.P269L|CMTM1_uc002epm.3_RNA|CMTM1_uc002eps.2_RNA|CMTM2_uc002ept.2_5'Flank|CMTM2_uc010cdu.2_5'Flank	NM_181269	NP_851786	Q8IZ96	CKLF1_HUMAN	chemokine-like factor superfamily 1 isoform 1	152					chemotaxis	extracellular space|integral to membrane	cytokine activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		AAGCTTTCCCCCGCCAAGGAC	0.602												
HSF4	3299	broad.mit.edu	37	16	67199724	67199724	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:67199724A>G	uc002erl.1	+	5	1300	c.335A>G	c.(334-336)CAG>CGG	p.Q112R	HSF4_uc002erm.1_Missense_Mutation_p.Q112R|HSF4_uc002ern.1_RNA|HSF4_uc010cec.1_RNA	NM_001040667	NP_001035757	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4 isoform b	112	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)		GGCCGCGAGCAGCTACTGGAG	0.687												
KIAA0895L	653319	broad.mit.edu	37	16	67210807	67210807	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:67210807C>T	uc002ert.2	-	7	2098	c.1323G>A	c.(1321-1323)ATG>ATA	p.M441I	KIAA0895L_uc002err.2_RNA|KIAA0895L_uc002ers.2_Missense_Mutation_p.M286I|KIAA0895L_uc002eru.2_3'UTR	NM_001040715	NP_001035805	Q68EN5	K895L_HUMAN	hypothetical protein LOC653319	441											0						CCAAGTCCTGCATGAAGTGGG	0.632												
LRRC36	55282	broad.mit.edu	37	16	67404993	67404993	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:67404993C>T	uc002esv.2	+	9	1361	c.1342C>T	c.(1342-1344)CGG>TGG	p.R448W	LRRC36_uc002esw.2_RNA|LRRC36_uc010ceh.2_Missense_Mutation_p.R180W|LRRC36_uc002esx.2_Missense_Mutation_p.R327W|LRRC36_uc010vjk.1_Missense_Mutation_p.R327W|LRRC36_uc010vjl.1_5'UTR|LRRC36_uc002esy.2_Intron	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36 isoform 1	448											0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		AACTCCTCTGCGGACACTGCT	0.458												
TSNAXIP1	55815	broad.mit.edu	37	16	67861894	67861894	+	Nonstop_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:67861894T>C	uc002euj.2	+	16	2369	c.1975T>C	c.(1975-1977)TAG>CAG	p.*659Q	TSNAXIP1_uc002euf.3_3'UTR|TSNAXIP1_uc010vka.1_Nonstop_Mutation_p.*713Q|TSNAXIP1_uc010vkb.1_Nonstop_Mutation_p.*644Q|TSNAXIP1_uc002eug.3_Nonstop_Mutation_p.*367Q|TSNAXIP1_uc002euh.3_Nonstop_Mutation_p.*367Q|TSNAXIP1_uc002eui.3_Nonstop_Mutation_p.*367Q|TSNAXIP1_uc002euk.2_Nonstop_Mutation_p.*392Q	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein	659					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm					0		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		GCCTGCAAGCTAGGAACTTGT	0.537												
SLC7A6OS	84138	broad.mit.edu	37	16	68335178	68335178	+	Nonstop_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:68335178T>C	uc002evw.1	-	5	949	c.930A>G	c.(928-930)TGA>TGG	p.*310W	SLC7A6_uc002evt.1_3'UTR|SLC7A6_uc002evu.1_3'UTR|SLC7A6_uc002evv.1_RNA|SLC7A6_uc010cfc.1_RNA	NM_032178	NP_115554	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite	310					protein transport	cytoplasm|nucleus				ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		CACAAGACCATCAGTCTGAAT	0.537												
TMCO7	79613	broad.mit.edu	37	16	68893886	68893886	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:68893886C>A	uc002ewi.3	+	2	206	c.194C>A	c.(193-195)CCT>CAT	p.P65H	TMCO7_uc002ewh.2_Missense_Mutation_p.P65H	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	65						integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		CTGAAGGATCCTCAGTGGAAG	0.433												
HAS3	3038	broad.mit.edu	37	16	69148719	69148719	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:69148719C>T	uc010cfh.2	+	4	1436	c.1212C>T	c.(1210-1212)GGC>GGT	p.G404G	HAS3_uc002ewk.2_Intron|HAS3_uc002ewl.2_Silent_p.G404G	NM_005329	NP_005320	O00219	HAS3_HUMAN	hyaluronan synthase 3 isoform a	404	Extracellular (Potential).				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity				0		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TCTACCGGGGCCGCATCTGGA	0.547												
VPS4A	27183	broad.mit.edu	37	16	69352755	69352755	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:69352755C>T	uc002eww.2	+	5	501	c.373C>T	c.(373-375)CGG>TGG	p.R125W		NM_013245	NP_037377	Q9UN37	VPS4A_HUMAN	vacuolar protein sorting factor 4A	125					cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding				0		Ovarian(137;0.101)				GCCCAACATACGGTGGAACGA	0.512												
ZFHX3	463	broad.mit.edu	37	16	72821612	72821612	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:72821612G>A	uc002fck.2	-	10	11236	c.10563C>T	c.(10561-10563)GGC>GGT	p.G3521G	uc002fcj.1_RNA|ZFHX3_uc002fcl.2_Silent_p.G2607G	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3521	Poly-Gly.				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)				cgccgccgccgccgccaccgc	0.408												
ADAMTS18	170692	broad.mit.edu	37	16	77323191	77323191	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:77323191T>C	uc002ffc.3	-	22	3939	c.3520A>G	c.(3520-3522)ACA>GCA	p.T1174A		NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1174	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						CAGAAGTTTGTATTACAGGCT	0.453												
ADAMTS18	170692	broad.mit.edu	37	16	77353803	77353803	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:77353803G>T	uc002ffc.3	-	16	2894	c.2475C>A	c.(2473-2475)TTC>TTA	p.F825L	ADAMTS18_uc010chc.1_Missense_Mutation_p.F413L|ADAMTS18_uc002ffe.1_Missense_Mutation_p.F521L	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	825	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						CCGGGCGGTTGAAAGAGCGCT	0.557												
DYNLRB2	83657	broad.mit.edu	37	16	80577247	80577247	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:80577247A>C	uc002ffo.2	+	4	198	c.78A>C	c.(76-78)GAA>GAC	p.E26D	DYNLRB2_uc002ffp.2_RNA|DYNLRB2_uc002ffq.2_RNA	NM_130897	NP_570967	Q8TF09	DLRB2_HUMAN	dynein, light chain, roadblock-type 2	26					microtubule-based movement|transport	cytoplasmic dynein complex|microtubule	microtubule motor activity				0						TAAATGCAGAAGGTAAATATA	0.413												
KLHL36	79786	broad.mit.edu	37	16	84690644	84690644	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:84690644C>T	uc002fig.2	+	3	372	c.231C>T	c.(229-231)ATC>ATT	p.I77I	KLHL36_uc010chl.2_Silent_p.I76I	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	kelch-like 36	77	BTB.									skin(2)	2						TGTTCACCATCGGCATGCGGG	0.622												
FOXC2	2303	broad.mit.edu	37	16	86601350	86601350	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:86601350G>A	uc002fjq.2	+	1	494	c.409G>A	c.(409-411)GAC>AAC	p.D137N		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	forkhead box C2	137	Fork-head.				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding				0						GCCCCGCGACGACAAGAAGCC	0.622									Late-onset_Hereditary_Lymphedema			
FBXO31	79791	broad.mit.edu	37	16	87369022	87369022	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:87369022C>T	uc002fjw.2	-	7	928	c.884G>A	c.(883-885)CGC>CAC	p.R295H	FBXO31_uc010vot.1_Missense_Mutation_p.R123H|FBXO31_uc002fjv.2_Missense_Mutation_p.R187H	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	F-box protein 31	295					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)		GTCGTCGGGGCGGCTGGGCGG	0.657												
ZC3H18	124245	broad.mit.edu	37	16	88695188	88695188	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:88695188A>G	uc002fky.2	+	16	2692	c.2492A>G	c.(2491-2493)AAG>AGG	p.K831R	ZC3H18_uc010voz.1_Missense_Mutation_p.K855R|ZC3H18_uc010chw.2_RNA|ZC3H18_uc002fkz.2_Missense_Mutation_p.K101R	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	831						nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GGAAGCAGGAAGCGCTATGAA	0.632												
CBFA2T3	863	broad.mit.edu	37	16	88958316	88958316	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:88958316G>A	uc002fmm.1	-	5	871	c.685C>T	c.(685-687)CGG>TGG	p.R229W	CBFA2T3_uc002fml.1_Missense_Mutation_p.R143W|CBFA2T3_uc010cif.1_Missense_Mutation_p.R168W|CBFA2T3_uc002fmn.1_Missense_Mutation_p.R204W	NM_005187	NP_005178	O75081	MTG16_HUMAN	myeloid translocation gene on chromosome 16	229	TAFH.|Mediates localization to the nucleus (By similarity).|Mediates interaction with PDE7A (in isoform 2).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0275)		ACAAACGGCCGCAGAGGGAAG	0.577			T	RUNX1	AML							
CDH15	1013	broad.mit.edu	37	16	89245905	89245905	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:89245905C>T	uc002fmt.2	+	2	201	c.124C>T	c.(124-126)CGC>TGC	p.R42C	CDH15_uc010cij.1_Missense_Mutation_p.R42C	NM_004933	NP_004924	P55291	CAD15_HUMAN	cadherin 15 preproprotein	42					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0261)		TGCCCTGAGCCGCGTGCGGAG	0.667												
ZNF778	197320	broad.mit.edu	37	16	89293428	89293428	+	Silent	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:89293428G>T	uc002fmv.2	+	6	987	c.648G>T	c.(646-648)GCG>GCT	p.A216A	ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Silent_p.A174A|ZNF778_uc010vpg.1_5'UTR	NM_182531	NP_872337	Q96MU6	ZN778_HUMAN	zinc finger protein 778	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0269)		AGGCACGTGCGGGAAGTCACA	0.512												
DEF8	54849	broad.mit.edu	37	16	90030654	90030654	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:90030654G>A	uc002fpn.1	+	11	1351	c.1262G>A	c.(1261-1263)CGC>CAC	p.R421H	DEF8_uc002fpo.1_Missense_Mutation_p.R360H|DEF8_uc002fpp.1_Missense_Mutation_p.R350H|DEF8_uc010vpq.1_Missense_Mutation_p.R300H|DEF8_uc010vpr.1_Missense_Mutation_p.R343H|DEF8_uc002fpq.1_Missense_Mutation_p.R118H	NM_207514	NP_997397	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 isoform 1	421					intracellular signal transduction		zinc ion binding			central_nervous_system(1)	1		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CATGCCGGCCGCCTGGGCTGC	0.637												
PRDM7	11105	broad.mit.edu	37	16	90124855	90124855	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:90124855T>C	uc010cje.2	-	10	1341	c.1321A>G	c.(1321-1323)ACT>GCT	p.T441A	PRDM7_uc002fqo.2_Silent_p.S140S|PRDM7_uc010cjf.2_Silent_p.S229S	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN	PR domain containing 7 isoform 1	441						chromosome|nucleus	nucleic acid binding			ovary(1)	1		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTGAGAGGAGTGATTGCGTTC	0.478												
TSR1	55720	broad.mit.edu	37	17	2228714	2228714	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:2228714G>A	uc002fuj.2	-	12	2861	c.1904C>T	c.(1903-1905)GCG>GTG	p.A635V		NM_018128	NP_060598	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation	635					ribosome assembly	nucleolus	protein binding			ovary(1)	1						ATGTTTGTCCGCTGCCATAAG	0.443												
KIAA0664	23277	broad.mit.edu	37	17	2601706	2601706	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:2601706G>A	uc002fuy.1	-	10	1417	c.1331C>T	c.(1330-1332)GCG>GTG	p.A444V	KIAA0664_uc002fux.1_Missense_Mutation_p.A376V	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	444							binding			breast(2)	2						CACGTAGGCCGCCACGTCCCC	0.612												
ZNF594	84622	broad.mit.edu	37	17	5086549	5086549	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:5086549G>A	uc010cla.1	-	2	1159	c.1003C>T	c.(1003-1005)CGC>TGC	p.R335C		NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	zinc finger protein 594	335	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3						AAAGCTGTGCGCCCACTGAAG	0.463												
SLC16A13	201232	broad.mit.edu	37	17	6943212	6943212	+	Silent	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:6943212C>A	uc002geh.2	+	4	1520	c.1212C>A	c.(1210-1212)CCC>CCA	p.P404P		NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN	monocarboxylate transporter 13	404	Extracellular (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(1)|skin(1)	2						CCTCCGGGCCCCAGGACCTTG	0.552												
DNAH2	146754	broad.mit.edu	37	17	7684072	7684072	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:7684072G>A	uc002giu.1	+	37	5989	c.5975G>A	c.(5974-5976)CGC>CAC	p.R1992H		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	1992					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AAGAAGCGCCGCCTACAGCCG	0.552												
ARHGEF15	22899	broad.mit.edu	37	17	8219405	8219405	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:8219405C>T	uc002glc.2	+	9	1764	c.1643C>T	c.(1642-1644)CCG>CTG	p.P548L	ARHGEF15_uc002gld.2_Missense_Mutation_p.P548L|ARHGEF15_uc010vuw.1_Missense_Mutation_p.P437L	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	548	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						GAGCGGCTCCCGCTGCCGTCC	0.677												
MYH2	4620	broad.mit.edu	37	17	10428240	10428240	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:10428240G>A	uc010coi.2	-	34	4933	c.4805C>T	c.(4804-4806)TCC>TTC	p.S1602F	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.S1602F|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1602	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						GCTCTGCATGGACTCCACGAT	0.448												
DNAH9	1770	broad.mit.edu	37	17	11648217	11648217	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:11648217G>A	uc002gne.2	+	31	6283	c.6215G>A	c.(6214-6216)CGC>CAC	p.R2072H	DNAH9_uc010coo.2_Missense_Mutation_p.R1366H	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2072					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTCCTGATGCGCTCCTTGCGG	0.612												
DNAH9	1770	broad.mit.edu	37	17	11833202	11833202	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:11833202A>C	uc002gne.2	+	63	11965	c.11897A>C	c.(11896-11898)AAG>ACG	p.K3966T	DNAH9_uc010coo.2_Intron|DNAH9_uc002gnf.2_Missense_Mutation_p.K278T	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3966	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGGTGGCCAAGTGGCTCAGC	0.557												
RICH2	9912	broad.mit.edu	37	17	12887995	12887995	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:12887995A>G	uc002gnr.3	+	20	2414	c.2087A>G	c.(2086-2088)CAG>CGG	p.Q696R	RICH2_uc010vvk.1_Missense_Mutation_p.Q696R|RICH2_uc010vvl.1_Missense_Mutation_p.Q690R|RICH2_uc002gns.3_Missense_Mutation_p.Q490R|RICH2_uc010vvm.1_Missense_Mutation_p.Q690R|RICH2_uc010vvn.1_RNA	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Rho GTPase-activating protein RICH2	696					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity				0						AGCTACCCTCAGGGGTACTCC	0.662												
CCDC144A	9720	broad.mit.edu	37	17	16612530	16612530	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:16612530G>C	uc002gqk.1	+	5	1235	c.1159G>C	c.(1159-1161)GTT>CTT	p.V387L	CCDC144A_uc002gql.1_Intron|LOC162632_uc010cpj.1_5'Flank	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	387											0						CCAGGAACATGTTTGCCAGTC	0.363												
SREBF1	6720	broad.mit.edu	37	17	17722984	17722984	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:17722984C>T	uc002gru.1	-	3	773	c.579G>A	c.(577-579)CCG>CCA	p.P193P	SREBF1_uc002grp.1_5'Flank|SREBF1_uc002grq.1_5'UTR|SREBF1_uc002grr.1_5'UTR|SREBF1_uc002grs.1_Silent_p.P169P|SREBF1_uc002grt.1_Silent_p.P223P|SREBF1_uc010cpp.1_Silent_p.P169P|SREBF1_uc010cpq.1_Silent_p.P193P	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	193	Cytoplasmic (Potential).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1						GGACCCCTGGCGGGGAAGCCA	0.662												
C17orf39	79018	broad.mit.edu	37	17	17957481	17957481	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:17957481T>A	uc002gsg.1	+	3	707	c.539T>A	c.(538-540)ATC>AAC	p.I180N		NM_024052	NP_076957	Q8IVV7	CQ039_HUMAN	hypothetical protein LOC79018	180										skin(1)	1	all_neural(463;0.228)					GGAGAAATAATCAGCAAAAAA	0.393												
MYO15A	51168	broad.mit.edu	37	17	18023041	18023041	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:18023041C>T	uc010vxh.1	+	2	1265	c.927C>T	c.(925-927)TAC>TAT	p.Y309Y		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	309	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)					GCTACGGCTACGACGATTACG	0.607												
ALKBH5	54890	broad.mit.edu	37	17	18088243	18088243	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:18088243G>A	uc010cpw.2	+	1	1377	c.686G>A	c.(685-687)GGC>GAC	p.G229D	uc002gsn.2_5'Flank|ALKBH5_uc010cpx.2_Intron	NM_017758	NP_060228	Q6P6C2	ALKB5_HUMAN	alkB, alkylation repair homolog 5	229						integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0	all_neural(463;0.228)					CTGTGCTTCGGCTGCAAGTTC	0.622												
SEBOX	645832	broad.mit.edu	37	17	26691899	26691899	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:26691899G>T	uc010wai.1	-	2	202	c.188C>A	c.(187-189)GCG>GAG	p.A63E	SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_Missense_Mutation_p.A62E|SARM1_uc010waj.1_Intron	NM_001080837	NP_001074306	Q9HB31	SEBOX_HUMAN	SEBOX homeobox isoform 1	63	Homeobox.				cell differentiation|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TGCTGCAAACGCCCTCTCCAG	0.627												
ALDOC	230	broad.mit.edu	37	17	26901545	26901545	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:26901545G>A	uc002hbp.2	-	6	736	c.591C>T	c.(589-591)CAC>CAT	p.H197H	PIGS_uc002hbo.2_5'Flank|PIGS_uc010wap.1_5'Flank|ALDOC_uc010cro.2_Intron	NM_005165	NP_005156	P09972	ALDOC_HUMAN	fructose-bisphosphate aldolase C	197					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			ovary(1)	1	Lung NSC(42;0.00431)					GTTTGAGGTCGTGGTCTCCAT	0.522												
ALDOC	230	broad.mit.edu	37	17	26901984	26901984	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:26901984T>C	uc002hbp.2	-	4	510	c.365A>G	c.(364-366)GAA>GGA	p.E122G	ALDOC_uc010cro.2_Missense_Mutation_p.E122G	NM_005165	NP_005156	P09972	ALDOC_HUMAN	fructose-bisphosphate aldolase C	122					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			ovary(1)	1	Lung NSC(42;0.00431)					AGTGGTGGTTTCTCCATCAGT	0.517											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PROCA1	147011	broad.mit.edu	37	17	27031862	27031862	+	Splice_Site	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:27031862C>A	uc002hcb.3	-	3	301	c.98_splice	c.e3-1	p.G33_splice	PROCA1_uc010crv.2_Splice_Site|PROCA1_uc002hca.1_Splice_Site_p.G31_splice	NM_152465	NP_689678	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1						lipid catabolic process		calcium ion binding|phospholipase A2 activity			ovary(1)	1	Lung NSC(42;0.00431)					TTGCAGTCACCTGAGGGGGCA	0.582												
MYO18A	399687	broad.mit.edu	37	17	27448161	27448161	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:27448161G>A	uc002hdt.1	-	6	1598	c.1440C>T	c.(1438-1440)ACC>ACT	p.T480T	MYO18A_uc010wbc.1_Silent_p.T22T|MYO18A_uc002hds.2_Silent_p.T22T|MYO18A_uc010csa.1_Silent_p.T480T|MYO18A_uc002hdu.1_Silent_p.T480T|MYO18A_uc010wbd.1_Silent_p.T149T	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	480	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCCTGTATGCGGTCTGGGCCA	0.587												
NF1	4763	broad.mit.edu	37	17	29556373	29556373	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:29556373C>T	uc002hgg.2	+	21	3073	c.2740C>T	c.(2740-2742)CGG>TGG	p.R914W	NF1_uc002hgh.2_Missense_Mutation_p.R914W|NF1_uc010csn.1_Missense_Mutation_p.R774W|NF1_uc002hgi.1_Translation_Start_Site	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	914					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(2)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACTTCAAATACGGACCAATGT	0.413			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
CDK5R1	8851	broad.mit.edu	37	17	30814868	30814868	+	Missense_Mutation	SNP	A	A	G	rs150042369	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:30814868A>G	uc002hhn.2	+	2	451	c.230A>G	c.(229-231)AAC>AGC	p.N77S	CDK5R1_uc010wca.1_Missense_Mutation_p.N77S|CDK5R1_uc010ctc.2_5'UTR	NM_003885	NP_003876	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1	77					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)			TACCAGAACAACATCACGCAC	0.597												
SPACA3	124912	broad.mit.edu	37	17	31322545	31322545	+	Silent	SNP	C	C	T	rs139396445		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:31322545C>T	uc002hhs.1	+	2	228	c.153C>T	c.(151-153)GCC>GCT	p.A51A	SPACA3_uc010cte.1_RNA	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	51	Cytoplasmic (Potential).				cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.193)			CCTCTGCCGCCGGCATAGAAG	0.612												
UNC45B	146862	broad.mit.edu	37	17	33504125	33504125	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:33504125G>A	uc002hja.2	+	16	2218	c.2121G>A	c.(2119-2121)CCG>CCA	p.P707P	UNC45B_uc002hjb.2_Silent_p.P705P|UNC45B_uc002hjc.2_Silent_p.P705P|UNC45B_uc010cto.2_Silent_p.P626P	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	707					cell differentiation|muscle organ development	cytosol	binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)				TCTCCAATCCGGACATTGCTT	0.572												
SYNRG	11276	broad.mit.edu	37	17	35900495	35900495	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:35900495G>A	uc002hoa.2	-	16	3436	c.3353C>T	c.(3352-3354)ACG>ATG	p.T1118M	SYNRG_uc010wde.1_Missense_Mutation_p.T1040M|SYNRG_uc010wdf.1_Missense_Mutation_p.T1040M|SYNRG_uc002hoc.2_Missense_Mutation_p.T1039M|SYNRG_uc002hoe.2_Missense_Mutation_p.T1040M|SYNRG_uc002hod.2_Missense_Mutation_p.T995M|SYNRG_uc010wdg.1_Missense_Mutation_p.T912M|SYNRG_uc002hob.2_Missense_Mutation_p.T1118M	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	synergin, gamma isoform 1	1118					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2						CACCTCTCCCGTCAGGTCTTT	0.542												
MED1	5469	broad.mit.edu	37	17	37564730	37564730	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:37564730C>T	uc002hrv.3	-	17	3956	c.3744G>A	c.(3742-3744)GGG>GGA	p.G1248G	MED1_uc010wee.1_Silent_p.G1076G|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	1248	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		AGGATCCTAACCCTGAAGATG	0.488										HNSCC(31;0.082)		
PSMD3	5709	broad.mit.edu	37	17	38153770	38153770	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:38153770G>A	uc002htn.1	+	12	1705	c.1541G>A	c.(1540-1542)CGA>CAA	p.R514Q	PSMD3_uc010wen.1_RNA|PSMD3_uc010weo.1_Missense_Mutation_p.R415Q	NM_002809	NP_002800	O43242	PSMD3_HUMAN	proteasome 26S non-ATPase subunit 3	514					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			ovary(1)|pancreas(1)	2	Colorectal(19;0.000442)					CGGCGTGAGCGAGAACAGCAG	0.592												
TNS4	84951	broad.mit.edu	37	17	38643661	38643661	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:38643661T>G	uc010cxb.2	-	4	1079	c.915A>C	c.(913-915)AGA>AGC	p.R305S		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	tensin 4 precursor	305	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TTTCCAAGGATCTGGAAGATG	0.582												
CNP	1267	broad.mit.edu	37	17	40120342	40120342	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:40120342A>G	uc002hyl.1	+	2	404	c.260A>G	c.(259-261)AAG>AGG	p.K87R	CNP_uc002hyk.1_Missense_Mutation_p.K87R|CNP_uc010wfz.1_Missense_Mutation_p.K87R|CNP_uc002hym.1_Missense_Mutation_p.K67R|CNP_uc010wga.1_Intron	NM_033133	NP_149124	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	87					cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding				0		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		GACGCTTACAAGATCACCCCC	0.622												
PTRF	284119	broad.mit.edu	37	17	40575027	40575027	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:40575027T>C	uc002hzo.2	-	1	248	c.89A>G	c.(88-90)CAG>CGG	p.Q30R	PTRF_uc010wgi.1_Missense_Mutation_p.Q30R	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	30					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(1)	1		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CTCCGCTGCCTGAGCCCCAGC	0.677												
COASY	80347	broad.mit.edu	37	17	40715058	40715058	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:40715058T>G	uc002hzz.2	+	2	575	c.418T>G	c.(418-420)TGT>GGT	p.C140G	COASY_uc010cyj.2_Missense_Mutation_p.C169G|COASY_uc002iab.2_5'UTR|COASY_uc002iad.2_Missense_Mutation_p.C140G|COASY_uc002iac.2_Missense_Mutation_p.C140G|COASY_uc002iae.2_5'Flank	NM_001042529	NP_001035994	Q13057	COASY_HUMAN	coenzyme A synthase isoform a	140					coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity				0		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CGCCACCAGCTGTTACAGCTG	0.582												
CNTNAP1	8506	broad.mit.edu	37	17	40835908	40835908	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:40835908T>G	uc002iay.2	+	2	353	c.137T>G	c.(136-138)CTC>CGC	p.L46R	CCR10_uc002iax.3_5'Flank|CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	46	Extracellular (Potential).|F5/8 type C.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TACTACAGTCTCCTTACTGCG	0.657												
AOC2	314	broad.mit.edu	37	17	40998188	40998188	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:40998188G>A	uc002ibu.2	+	1	1580	c.1545G>A	c.(1543-1545)GTG>GTA	p.V515V	AOC2_uc002ibt.2_Silent_p.V515V	NM_009590	NP_033720	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 isoform b	515					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			ovary(2)	2		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TGGGAACGGTGCACACACATG	0.602												
RPL27	6155	broad.mit.edu	37	17	41151963	41151963	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:41151963G>A	uc002icj.2	+	3	140	c.95G>A	c.(94-96)GGC>GAC	p.G32D	RPL27_uc002ick.2_Missense_Mutation_p.G32D	NM_000988	NP_000979	P61353	RL27_HUMAN	ribosomal protein L27	32	KOW.				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	structural constituent of ribosome				0		Breast(137;0.000717)|Ovarian(249;0.0776)		BRCA - Breast invasive adenocarcinoma(366;0.157)		ATTGATGATGGCACCTCAGAT	0.473												
GPATCH8	23131	broad.mit.edu	37	17	42476786	42476786	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:42476786G>A	uc002igw.1	-	8	2723	c.2659C>T	c.(2659-2661)CGC>TGC	p.R887C	GPATCH8_uc002igv.1_Missense_Mutation_p.R809C|GPATCH8_uc010wiz.1_Missense_Mutation_p.R809C	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	887	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GAGTAACTGCGCTGTCTACTA	0.537												
CDC27	996	broad.mit.edu	37	17	45235659	45235659	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:45235659G>A	uc002ild.3	-	5	515	c.388C>T	c.(388-390)CGG>TGG	p.R130W	CDC27_uc002ile.3_Missense_Mutation_p.R130W|CDC27_uc002ilf.3_Missense_Mutation_p.R130W|CDC27_uc010wkp.1_Missense_Mutation_p.R69W|CDC27_uc010wkq.1_RNA	NM_001256	NP_001247	P30260	CDC27_HUMAN	cell division cycle protein 27 isoform 2	130	TPR 2.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			lung(2)|breast(2)|ovary(1)	5						TTGGCAAGCCGATCTGTCTTG	0.368												
ITGA3	3675	broad.mit.edu	37	17	48157693	48157693	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:48157693C>T	uc010dbl.2	+	22	3238	c.2774C>T	c.(2773-2775)ACC>ATC	p.T925I	ITGA3_uc010dbm.2_Missense_Mutation_p.T925I	NM_002204	NP_002195	P26006	ITA3_HUMAN	integrin alpha 3 isoform a precursor	925	Extracellular (Potential).				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3						CCCGTTGTCACCAACGTGACT	0.602												
BZRAP1	9256	broad.mit.edu	37	17	56389047	56389047	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:56389047G>A	uc002ivx.3	-	18	3837	c.2966C>T	c.(2965-2967)CCT>CTT	p.P989L	BZRAP1_uc010dcs.2_Missense_Mutation_p.P929L|BZRAP1_uc010wnt.1_Missense_Mutation_p.P989L	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	989	Fibronectin type-III 3.					mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGAGGGCCCAGGCTCGATCTG	0.617												
C17orf47	284083	broad.mit.edu	37	17	56620397	56620397	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:56620397T>C	uc002iwq.1	-	1	1287	c.1151A>G	c.(1150-1152)TAC>TGC	p.Y384C	SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	hypothetical protein LOC284083	384										breast(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTGGGACATGTAAGTAATTTC	0.512												
PPM1E	22843	broad.mit.edu	37	17	56833469	56833469	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:56833469C>T	uc002iwx.2	+	1	238	c.111C>T	c.(109-111)CCC>CCT	p.P37P	PPM1E_uc010ddd.2_5'UTR	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	protein phosphatase 1E	37	Glu-rich.|4.|11 X 2 AA tandem repeats of P-E.|Pro-rich.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(3)|lung(1)|skin(1)	5	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			aacccgaacccgaacccgaac	0.428												
PPM1E	22843	broad.mit.edu	37	17	57058285	57058285	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:57058285C>T	uc002iwx.2	+	7	2288	c.2161C>T	c.(2161-2163)CCA>TCA	p.P721S	PPM1E_uc010ddd.2_Missense_Mutation_p.P484S	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	protein phosphatase 1E	730					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(3)|lung(1)|skin(1)	5	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			AAGTTCTCTGCCATGGAGGCA	0.423												
TRIM37	4591	broad.mit.edu	37	17	57126658	57126658	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:57126658G>A	uc002iwy.3	-	15	1855	c.1411C>T	c.(1411-1413)CGA>TGA	p.R471*	TRIM37_uc002iwz.3_Nonsense_Mutation_p.R471*|TRIM37_uc002ixa.3_Nonsense_Mutation_p.R349*|TRIM37_uc010woc.1_Nonsense_Mutation_p.R437*	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	471						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTCTTAGCTCGTGTCTCCAGA	0.453									Mulibrey_Nanism			
APPBP2	10513	broad.mit.edu	37	17	58525054	58525054	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:58525054C>T	uc002iys.1	-	13	1934	c.1646G>A	c.(1645-1647)CGG>CAG	p.R549Q	APPBP2_uc010ddl.1_Missense_Mutation_p.R478Q	NM_006380	NP_006371	Q92624	APBP2_HUMAN	amyloid beta precursor protein-binding protein	549					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TGAATATTGCCGATCTCGCAA	0.443												
MED13	9969	broad.mit.edu	37	17	60042538	60042538	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:60042538A>G	uc002izo.2	-	20	4750	c.4673T>C	c.(4672-4674)TTT>TCT	p.F1558S		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1558	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2						AAAGGGTGGAAACGAAGGTAG	0.433												
MRC2	9902	broad.mit.edu	37	17	60766976	60766976	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:60766976C>T	uc002jad.2	+	24	3830	c.3428C>T	c.(3427-3429)CCG>CTG	p.P1143L	MRC2_uc002jae.2_Missense_Mutation_p.P214L|MRC2_uc002jaf.2_Intron	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1143	Extracellular (Potential).|C-type lectin 7.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						CTTCAGAAGCCGCTGCGCTGG	0.697												
SMURF2	64750	broad.mit.edu	37	17	62582238	62582238	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:62582238A>G	uc002jep.1	-	6	839	c.451T>C	c.(451-453)TGC>CGC	p.C151R	SMURF2_uc002jeq.1_Intron|SMURF2_uc002jer.1_5'UTR	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	151					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)			AAACGACTGCAGTCCACAACT	0.328												
CACNG5	27091	broad.mit.edu	37	17	64873455	64873455	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:64873455G>A	uc010wqi.1	+	2	242	c.5G>A	c.(4-6)AGT>AAT	p.S2N	CACNG5_uc002jfr.2_Missense_Mutation_p.S2N|CACNG5_uc010wqj.1_Missense_Mutation_p.S2N	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	voltage-dependent calcium channel gamma-5	2					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|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			AGGAAGATGAGTGCCTGCGGG	0.632												
BPTF	2186	broad.mit.edu	37	17	65909216	65909216	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:65909216A>G	uc002jgf.2	+	11	5277	c.5216A>G	c.(5215-5217)GAG>GGG	p.E1739G	BPTF_uc002jge.2_Missense_Mutation_p.E1865G	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1865					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGAATCCGAGAGGTCCCTTAT	0.393												
SOX9	6662	broad.mit.edu	37	17	70120419	70120419	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:70120419G>A	uc002jiw.2	+	3	1793	c.1421G>A	c.(1420-1422)CGC>CAC	p.R474H		NM_000346	NP_000337	P48436	SOX9_HUMAN	transcription factor SOX9	474					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription				0		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CCCGCTCAGCGCCCCATGTAC	0.637												
C17orf28	283987	broad.mit.edu	37	17	72947725	72947725	+	Silent	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:72947725A>G	uc002jmj.3	-	19	2456	c.2307T>C	c.(2305-2307)AAT>AAC	p.N769N	C17orf28_uc002jmi.2_Silent_p.N171N|C17orf28_uc010wrs.1_Silent_p.N568N	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	hypothetical protein LOC283987	769						integral to membrane|plasma membrane	protein binding				0	all_lung(278;0.151)|Lung NSC(278;0.185)					GGGGGTCCACATTCCTGTGGA	0.607												
LLGL2	3993	broad.mit.edu	37	17	73566223	73566223	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:73566223C>T	uc002joh.2	+	15	1915	c.1761C>T	c.(1759-1761)CCC>CCT	p.P587P	LLGL2_uc002joi.2_Silent_p.P587P|LLGL2_uc010dgg.1_Silent_p.P587P|LLGL2_uc002joj.2_Silent_p.P576P|LLGL2_uc010wsd.1_Silent_p.P214P	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	587					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	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;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGTGTCAGCCCCCGGCTGTGG	0.682												
EVPL	2125	broad.mit.edu	37	17	74017836	74017836	+	Silent	SNP	G	G	A	rs148449976	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:74017836G>A	uc002jqi.2	-	8	1062	c.834C>T	c.(832-834)AGC>AGT	p.S278S	EVPL_uc010wss.1_Silent_p.S278S|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	278	Spectrin.|Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						TCTGCTCCTGGCTCAGCAGCT	0.657												
SRP68	6730	broad.mit.edu	37	17	74042211	74042211	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:74042211G>A	uc002jqk.1	-	11	1242	c.1207C>T	c.(1207-1209)CAG>TAG	p.Q403*	SRP68_uc010wsu.1_Nonsense_Mutation_p.Q302*|SRP68_uc002jql.1_Nonsense_Mutation_p.Q365*|SRP68_uc002jqj.1_Nonsense_Mutation_p.Q64*	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	403					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			ovary(1)	1						AGAGCCCTCTGCAGACCTTTG	0.527												
ZACN	353174	broad.mit.edu	37	17	74078041	74078041	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:74078041G>A	uc002jqn.2	+	8	1042	c.959G>A	c.(958-960)CGG>CAG	p.R320Q	ZACN_uc002jqo.2_RNA|ZACN_uc010dgu.2_RNA|EXOC7_uc002jqp.1_3'UTR|EXOC7_uc010dgv.1_3'UTR|EXOC7_uc002jqs.2_3'UTR|EXOC7_uc002jqq.2_3'UTR|EXOC7_uc010wsw.1_3'UTR|EXOC7_uc010wsx.1_3'UTR|EXOC7_uc002jqr.2_3'UTR|EXOC7_uc010wsv.1_3'UTR	NM_180990	NP_851321	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	320	Cytoplasmic (Potential).				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity				0						CTGCTGGCCCGGGGCAACCTT	0.667												
CARD14	79092	broad.mit.edu	37	17	78180824	78180824	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:78180824T>C	uc002jxw.1	+	20	2942	c.2747T>C	c.(2746-2748)ATG>ACG	p.M916T	CARD14_uc002jxt.1_RNA	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	916	Guanylate kinase-like.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGCACAGGATGGACATCTTC	0.577												
RNF213	57674	broad.mit.edu	37	17	78343450	78343450	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:78343450C>T	uc002jyh.1	+	20	6746	c.6523C>T	c.(6523-6525)CGC>TGC	p.R2175C	uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.R557C	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)			CCAAAAGGGGCGCTTAAGAGA	0.517												
C17orf70	80233	broad.mit.edu	37	17	79511073	79511073	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:79511073G>A	uc002kaq.2	-	7	2439	c.2384C>T	c.(2383-2385)GCC>GTC	p.A795V	C17orf70_uc002kao.1_Missense_Mutation_p.A444V|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Missense_Mutation_p.A644V	NM_001109760	NP_001103230	Q0VG06	FP100_HUMAN	Fanconi anemia core complex 100 kDa subunit	795					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			ovary(1)|skin(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GCAAATGTCGGCCAGAGAGGA	0.637												
C17orf70	80233	broad.mit.edu	37	17	79517723	79517723	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:79517723C>T	uc002kaq.2	-	3	852	c.797G>A	c.(796-798)GGT>GAT	p.G266D	C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Missense_Mutation_p.G115D	NM_001109760	NP_001103230	Q0VG06	FP100_HUMAN	Fanconi anemia core complex 100 kDa subunit	266					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			ovary(1)|skin(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			ATTTGGGTCACCAGGGGCTGA	0.602												
ARHGDIA	396	broad.mit.edu	37	17	79827069	79827069	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:79827069G>A	uc002kbp.2	-	4	434	c.395C>T	c.(394-396)ACG>ATG	p.T132M	ARHGDIA_uc002kjk.1_Missense_Mutation_p.T7M|ARHGDIA_uc002kbq.2_Missense_Mutation_p.T132M|ARHGDIA_uc002kbr.2_Missense_Mutation_p.T132M|ARHGDIA_uc002kbs.1_Intron|ARHGDIA_uc002kbt.1_Missense_Mutation_p.T132M|ARHGDIA_uc010dig.1_RNA	NM_004309	NP_004300	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	132					anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TTTCCTGTACGTATGCTGGAT	0.677												
LRRC45	201255	broad.mit.edu	37	17	79982976	79982976	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:79982976C>T	uc002kde.2	+	4	694	c.454C>T	c.(454-456)CGC>TGC	p.R152C	STRA13_uc002kdc.2_5'Flank|STRA13_uc002kdd.2_5'Flank	NM_144999	NP_659436	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	152	LRR 4.					centrosome				pancreas(1)	1	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCTGGACCTCCGCAACAACCA	0.697												
FASN	2194	broad.mit.edu	37	17	80048926	80048926	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:80048926G>A	uc002kdu.2	-	10	1629	c.1512C>T	c.(1510-1512)CGC>CGT	p.R504R	FASN_uc002kdw.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	504	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GCCCCATCCCGCGCCACTGTG	0.647												
TBCD	6904	broad.mit.edu	37	17	80858557	80858557	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:80858557G>A	uc002kfz.2	+	18	1810	c.1680G>A	c.(1678-1680)ACG>ACA	p.T560T	TBCD_uc002kfx.1_Silent_p.T543T|TBCD_uc002kfy.1_Silent_p.T560T|TBCD_uc002kgb.1_5'UTR	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	560	HEAT 2.				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				0	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CTGAGTACACGCAGCCAATGA	0.308												
EPB41L3	23136	broad.mit.edu	37	18	5394733	5394733	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:5394733T>A	uc002kmt.1	-	22	3299	c.3213A>T	c.(3211-3213)AAA>AAT	p.K1071N	EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Missense_Mutation_p.K849N|EPB41L3_uc010dkq.1_Missense_Mutation_p.K740N|EPB41L3_uc002kms.1_Missense_Mutation_p.K306N|EPB41L3_uc010wze.1_Missense_Mutation_p.K376N|EPB41L3_uc010wzf.1_Missense_Mutation_p.K368N|EPB41L3_uc010wzg.1_Missense_Mutation_p.K343N|EPB41L3_uc010dkr.2_Missense_Mutation_p.K463N	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1071	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						GGACCACTACTTTGGTCACTG	0.507												
L3MBTL4	91133	broad.mit.edu	37	18	6215765	6215765	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:6215765G>A	uc002kmz.3	-	11	1014	c.854C>T	c.(853-855)GCC>GTC	p.A285V	L3MBTL4_uc010dkt.2_Missense_Mutation_p.A285V|L3MBTL4_uc002kmy.3_Missense_Mutation_p.A123V	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4	285	MBT 3.				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|pancreas(1)	3		Colorectal(10;0.0249)				AAAAACTTTGGCAGGAACTGC	0.333												
LAMA1	284217	broad.mit.edu	37	18	7013871	7013871	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:7013871G>A	uc002knm.2	-	23	3400	c.3306C>T	c.(3304-3306)TGC>TGT	p.C1102C	LAMA1_uc010wzj.1_Silent_p.C578C	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1102	Laminin EGF-like 13.				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)	GCTCCAGGTTGCAGGCGTCCC	0.602												
RAB12	201475	broad.mit.edu	37	18	8635547	8635547	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:8635547C>T	uc002knp.2	+	4	726	c.443C>T	c.(442-444)GCA>GTA	p.A148V		NM_001025300	NP_001020471	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	148					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding				0						TCAGAAGATGCAGAGCTTCTC	0.448												
KIAA0802	23255	broad.mit.edu	37	18	8784549	8784549	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:8784549A>G	uc002knr.2	+	6	1581	c.1439A>G	c.(1438-1440)CAT>CGT	p.H480R	KIAA0802_uc002knq.2_Missense_Mutation_p.H480R|KIAA0802_uc010dkw.1_Missense_Mutation_p.H318R	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	831											0						AGCTTCCTCCATGATGCGGGG	0.687												
APCDD1	147495	broad.mit.edu	37	18	10487675	10487675	+	Silent	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:10487675C>A	uc002kom.3	+	5	1539	c.1185C>A	c.(1183-1185)TCC>TCA	p.S395S		NM_153000	NP_694545	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	395	Extracellular (Potential).				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding				0				READ - Rectum adenocarcinoma(15;0.08)		CCGAGGGCTCCTGGCAGGTGG	0.577												
CIDEA	1149	broad.mit.edu	37	18	12264361	12264361	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:12264361A>G	uc002kqt.3	+	3	304	c.239A>G	c.(238-240)GAT>GGT	p.D80G	CIDEA_uc002kqu.3_Missense_Mutation_p.D114G|CIDEA_uc010dlc.2_RNA	NM_001279	NP_001270	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a isoform	80	CIDE-N.				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			ovary(1)|central_nervous_system(1)	2						CTGGAGGAAGATGGCACCGTG	0.502												
C18orf8	29919	broad.mit.edu	37	18	21110257	21110257	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:21110257T>C	uc010xax.1	+	19	1785	c.1664T>C	c.(1663-1665)CTG>CCG	p.L555P	C18orf8_uc002kul.2_RNA|C18orf8_uc010xay.1_Missense_Mutation_p.L179P|NPC1_uc010dlu.1_Intron	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	colon cancer-associated protein Mic1	555	Mic1.									ovary(1)	1	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTGGACATGCTGAAGGTAACT	0.443												
CABYR	26256	broad.mit.edu	37	18	21736075	21736075	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:21736075G>A	uc002kux.2	+	4	762	c.610G>A	c.(610-612)GTT>ATT	p.V204I	CABYR_uc010xbb.1_Missense_Mutation_p.V106I|CABYR_uc002kuy.2_Intron|CABYR_uc002kuz.2_Intron|CABYR_uc002kva.2_Missense_Mutation_p.V186I|CABYR_uc002kvb.2_Intron|CABYR_uc002kvc.2_Intron|CABYR_uc010dlw.2_RNA	NM_012189	NP_036321	O75952	CABYR_HUMAN	calcium-binding tyrosine	204					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding				0	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					CAGTATGCCTGTTGTTATCAA	0.468												
ZNF396	252884	broad.mit.edu	37	18	32953924	32953924	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:32953924C>A	uc010xcf.1	-	2	465	c.333G>T	c.(331-333)TGG>TGT	p.W111C		NM_145756	NP_665699	Q96N95	ZN396_HUMAN	zinc finger protein 396	111	SCAN box.				viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GCTTCTGCACCCAGGCCTGAA	0.552												
FHOD3	80206	broad.mit.edu	37	18	34297930	34297930	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:34297930G>T	uc002kzt.1	+	15	2190	c.2093G>T	c.(2092-2094)GGG>GTG	p.G698V	FHOD3_uc002kzs.1_Missense_Mutation_p.G715V|FHOD3_uc010dmz.1_Missense_Mutation_p.G430V|FHOD3_uc010dna.1_Missense_Mutation_p.G18V	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	698					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)				AAGGGGGATGGGGAGGCTGGG	0.572												
SETBP1	26040	broad.mit.edu	37	18	42531797	42531797	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:42531797C>A	uc010dni.2	+	4	2788	c.2492C>A	c.(2491-2493)CCA>CAA	p.P831Q		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	831						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAGCTGTCTCCACCCAGACTG	0.512									Schinzel-Giedion_syndrome			
SLC14A2	8170	broad.mit.edu	37	18	43217142	43217142	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:43217142C>T	uc010dnj.2	+	7	1159	c.838C>T	c.(838-840)CCC>TCC	p.P280S	SLC14A2_uc002lbb.2_Missense_Mutation_p.P280S|SLC14A2_uc002lbe.2_Missense_Mutation_p.P280S	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	280	Helical; (Potential).					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						GATGGAAATGCCCCTGGTAAG	0.517												
LIPG	9388	broad.mit.edu	37	18	47101749	47101749	+	Silent	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:47101749T>G	uc002ldv.2	+	5	834	c.582T>G	c.(580-582)CCT>CCG	p.P194P	LIPG_uc002ldu.1_Silent_p.P194P|LIPG_uc010xdh.1_Intron	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	endothelial lipase precursor	194					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			ovary(1)|skin(1)	2						GTTTGGATCCTGCCGGGCCCA	0.552												
DCC	1630	broad.mit.edu	37	18	51013277	51013277	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:51013277C>A	uc002lfe.1	+	26	4434	c.3847C>A	c.(3847-3849)CCA>ACA	p.P1283T	DCC_uc010dpf.1_Missense_Mutation_p.P918T	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1283	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)		CCGGCCTGTGCCATTCCCAAC	0.517												
ZNF532	55205	broad.mit.edu	37	18	56587380	56587380	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:56587380T>C	uc002lho.2	+	4	2408	c.1861T>C	c.(1861-1863)TGT>CGT	p.C621R	ZNF532_uc002lhp.2_Missense_Mutation_p.C619R|ZNF532_uc010xeg.1_Missense_Mutation_p.C619R|ZNF532_uc002lhr.2_Missense_Mutation_p.C619R|ZNF532_uc002lhs.2_Missense_Mutation_p.C619R	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	621	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						GTGCTTGGAGTGTGGGGACTC	0.537												
CDH20	28316	broad.mit.edu	37	18	59166590	59166590	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:59166590C>T	uc010dps.1	+	2	430	c.418C>T	c.(418-420)CGG>TGG	p.R140W	CDH20_uc002lif.2_Missense_Mutation_p.R134W	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	140	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				CCTAGACAGGCGGACGGGCAG	0.537												
FBXO15	201456	broad.mit.edu	37	18	71796797	71796797	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:71796797A>G	uc002lle.2	-	5	736	c.400T>C	c.(400-402)TAT>CAT	p.Y134H	FBXO15_uc002llf.2_Missense_Mutation_p.Y210H	NM_152676	NP_689889	Q8NCQ5	FBX15_HUMAN	F-box protein 15 isoform 1	134										ovary(2)|pancreas(1)	3		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TCCATGATATATTCTTTTCCA	0.328												
CNDP1	84735	broad.mit.edu	37	18	72234643	72234643	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:72234643G>A	uc002llq.2	+	6	942	c.731G>A	c.(730-732)CGG>CAG	p.R244Q	CNDP1_uc002lls.2_Missense_Mutation_p.R47Q	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	carnosinase 1 precursor	244					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)		TACGGAACCCGGGGGAACAGC	0.498												
ZNF407	55628	broad.mit.edu	37	18	72775630	72775630	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:72775630G>A	uc002llw.2	+	8	6010	c.5953G>A	c.(5953-5955)GCA>ACA	p.A1985T		NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	1985					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)		TCCCCCCGAGGCATCCTCAGC	0.617												
MBP	4155	broad.mit.edu	37	18	74729102	74729102	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:74729102G>T	uc010xfd.1	-	4	526	c.262C>A	c.(262-264)CGC>AGC	p.R88S	MBP_uc002lml.2_5'Flank|MBP_uc002lmn.2_5'Flank|MBP_uc002lmp.2_5'Flank|MBP_uc010xfe.1_5'UTR|MBP_uc002lmr.2_Missense_Mutation_p.R88S	NM_001025101	NP_001020272	P02686	MBP_HUMAN	Golli-mbp isoform 1	88					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			haematopoietic_and_lymphoid_tissue(1)	1		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		AAGTGGGGGCGGCTCCCTGGG	0.632												
MBP	4155	broad.mit.edu	37	18	74817205	74817205	+	Missense_Mutation	SNP	C	C	T	rs149191307		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:74817205C>T	uc010xfd.1	-	2	277	c.13G>A	c.(13-15)GCA>ACA	p.A5T	MBP_uc002lmr.2_Missense_Mutation_p.A5T	NM_001025101	NP_001020272	P02686	MBP_HUMAN	Golli-mbp isoform 1	5					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			haematopoietic_and_lymphoid_tissue(1)	1		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		CGTTTGCCTGCGTGGTTTCCC	0.433												
GALR1	2587	broad.mit.edu	37	18	74963088	74963088	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:74963088G>A	uc002lms.3	+	1	1081	c.584G>A	c.(583-585)CGC>CAC	p.R195H		NM_001480	NP_001471	P47211	GALR1_HUMAN	galanin receptor 1	195	Extracellular (Potential).				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			lung(1)	1		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CCCGACCCTCGCCACAAGAAG	0.662												
PARD6G	84552	broad.mit.edu	37	18	77918110	77918110	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:77918110G>A	uc002lny.2	-	3	841	c.675C>T	c.(673-675)GCC>GCT	p.A225A	LOC100130522_uc002lnx.2_Intron|LOC100130522_uc010xfn.1_Intron|LOC100130522_uc010xfo.1_Intron	NM_032510	NP_115899	Q9BYG4	PAR6G_HUMAN	PAR-6 gamma protein	225	PDZ.|Interaction with PARD3 and CDC42 (By similarity).				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding				0		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		GCGTCTTCCCGGCCACCTCAA	0.637												
C19orf22	91300	broad.mit.edu	37	19	899642	899642	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:899642G>A	uc002lqg.2	-	6	674	c.606C>T	c.(604-606)TCC>TCT	p.S202S	C19orf22_uc002lqh.2_Silent_p.S181S|C19orf22_uc002lqi.2_Missense_Mutation_p.R202C|C19orf22_uc002lqj.2_Silent_p.S80S	NM_138774	NP_620129	Q96D70	CS022_HUMAN	hypothetical protein LOC91300	202	R3H.					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)		GGGGGGACACGGAGAAGAACC	0.697												
KISS1R	84634	broad.mit.edu	37	19	920352	920352	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:920352C>T	uc002lqk.3	+	5	962	c.801C>T	c.(799-801)GCC>GCT	p.A267A		NM_032551	NP_115940	Q969F8	KISSR_HUMAN	G protein-coupled receptor 54	267	Helical; Name=6; (Potential).				behavior	integral to membrane|plasma membrane	neuropeptide receptor activity|protein binding			pancreas(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTGGCGGCCGTGGTCCTGC	0.736												
WDR18	57418	broad.mit.edu	37	19	991989	991989	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:991989C>T	uc002lqm.1	+	8	992	c.966C>T	c.(964-966)CCC>CCT	p.P322P	WDR18_uc002lqn.1_RNA|WDR18_uc010drx.1_Silent_p.P285P|WDR18_uc010dry.1_Silent_p.P322P	NM_024100	NP_077005	Q9BV38	WDR18_HUMAN	WD repeat domain 18	322										skin(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTGGCGCCCGTCAGCATGC	0.552												
GRIN3B	116444	broad.mit.edu	37	19	1004918	1004918	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:1004918G>A	uc002lqo.1	+	3	1418	c.1418G>A	c.(1417-1419)CGC>CAC	p.R473H		NM_138690	NP_619635	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic,	473	Extracellular (Potential).				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)	CGTGCCCTGCGCAAGTGCTGC	0.687												
ATP8B3	148229	broad.mit.edu	37	19	1802642	1802642	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:1802642T>C	uc002ltw.2	-	11	1141	c.907A>G	c.(907-909)ACA>GCA	p.T303A	ATP8B3_uc002ltv.2_Missense_Mutation_p.T250A|ATP8B3_uc002ltx.2_RNA|ATP8B3_uc002lty.1_Missense_Mutation_p.T51A|ATP8B3_uc002ltz.1_Missense_Mutation_p.T250A	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	303	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACGTCACTGTGCCTGTGGGT	0.612												
CSNK1G2	1455	broad.mit.edu	37	19	1978697	1978697	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:1978697T>G	uc002lul.3	+	6	918	c.395T>G	c.(394-396)CTG>CGG	p.L132R	CSNK1G2_uc010dsu.2_Missense_Mutation_p.L84R	NM_001319	NP_001310	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	132	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			stomach(1)	1		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGTTCGACCTGTGCGACCGG	0.478												
BTBD2	55643	broad.mit.edu	37	19	1990129	1990129	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:1990129G>A	uc002lup.1	-	5	862	c.862C>T	c.(862-864)CGC>TGC	p.R288C	BTBD2_uc002luo.1_5'UTR	NM_017797	NP_060267	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	288						cytoplasmic mRNA processing body	protein binding			ovary(1)|skin(1)	2		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGGACCAGCGGACAACGGCA	0.657												
DOT1L	84444	broad.mit.edu	37	19	2191077	2191077	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:2191077C>A	uc002lvb.3	+	5	367	c.331C>A	c.(331-333)CTG>ATG	p.L111M		NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	111						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)		GCGCCATATCCTGCAGCAGGT	0.632												
LMNB2	84823	broad.mit.edu	37	19	2433843	2433843	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:2433843A>G	uc002lvy.2	-	8	1490	c.1403T>C	c.(1402-1404)CTC>CCC	p.L468P	LMNB2_uc002lwa.1_Missense_Mutation_p.L488P	NM_032737	NP_116126	Q03252	LMNB2_HUMAN	lamin B2	468	Tail.					nuclear inner membrane	structural molecule activity			large_intestine(1)|ovary(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTGTTCTTGAGCTGCACAAA	0.662												
THOP1	7064	broad.mit.edu	37	19	2807510	2807510	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:2807510G>A	uc002lwj.2	+	8	1112	c.957G>A	c.(955-957)GCG>GCA	p.A319A	THOP1_uc010xgz.1_Silent_p.A198A|THOP1_uc002lwk.2_5'Flank	NM_003249	NP_003240	P52888	THOP1_HUMAN	thimet oligopeptidase 1	319					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAAGCGTGCGGAGTGCGAGC	0.672												
EEF2	1938	broad.mit.edu	37	19	3977228	3977228	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:3977228C>T	uc002lze.2	-	14	2451	c.2368G>A	c.(2368-2370)GTC>ATC	p.V790I		NM_001961	NP_001952	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	790						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GACTCGTTGACGGGCAGATAG	0.602												
EEF2	1938	broad.mit.edu	37	19	3978014	3978014	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:3978014C>T	uc002lze.2	-	12	1953	c.1870G>A	c.(1870-1872)GCC>ACC	p.A624T		NM_001961	NP_001952	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	624						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTGACGGGCGGACACCTCG	0.662												
SAFB2	9667	broad.mit.edu	37	19	5587293	5587293	+	Silent	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:5587293A>G	uc002mcd.2	-	21	3035	c.2823T>C	c.(2821-2823)CCT>CCC	p.P941P		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	941	Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		gggggggatgagggtgtgggt	0.517												
TMEM146	257062	broad.mit.edu	37	19	5778543	5778543	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:5778543C>T	uc002mda.2	+	22	2314	c.2253C>T	c.(2251-2253)CGC>CGT	p.R751R		NM_152784	NP_689997	Q86XM0	TM146_HUMAN	transmembrane protein 146 precursor	751	Cytoplasmic (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						GCACAGCACGCGGCCGCAGGA	0.612												
C3	718	broad.mit.edu	37	19	6712378	6712378	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:6712378C>T	uc002mfm.2	-	11	1221	c.1159G>A	c.(1159-1161)GTC>ATC	p.V387I		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	387					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)		GCCACGGGGACTCGGTAGGCT	0.627												
C3	718	broad.mit.edu	37	19	6719344	6719344	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:6719344C>T	uc002mfm.2	-	2	207	c.145G>A	c.(145-147)GCG>ACG	p.A49T		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	49					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)		TCCCCTTGCGCGTCGTGGGCC	0.587												
INSR	3643	broad.mit.edu	37	19	7117116	7117116	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:7117116C>T	uc002mgd.1	-	22	4209	c.4100G>A	c.(4099-4101)GGC>GAC	p.G1367D	INSR_uc002mge.1_Missense_Mutation_p.G1355D	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	1367	Cytoplasmic (Potential).				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTTTTTCTTGCCTCCGTTCAT	0.607												
ZNF177	7730	broad.mit.edu	37	19	9489757	9489757	+	Silent	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:9489757C>A	uc002mli.2	+	9	816	c.153C>A	c.(151-153)GCC>GCA	p.A51A	ZNF177_uc002mlj.2_5'UTR|ZNF177_uc002mlk.2_Silent_p.A51A	NM_003451	NP_003442	Q13360	ZN177_HUMAN	zinc finger protein 177	51	KRAB.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GGAACCTGGCCTCAGTAGGTA	0.313												
ZNF266	10781	broad.mit.edu	37	19	9529198	9529198	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:9529198T>G	uc002mll.2	-	1	283	c.17A>C	c.(16-18)AAG>ACG	p.K6T	ZNF266_uc002mlm.2_Missense_Mutation_p.K6T|ZNF266_uc002mln.2_Missense_Mutation_p.K6T|ZNF266_uc002mlo.2_Missense_Mutation_p.K6T|ZNF266_uc010dwp.2_Missense_Mutation_p.K6T|ZNF266_uc010dwq.2_Missense_Mutation_p.K6T	NM_198058	NP_932175	Q14584	ZN266_HUMAN	zinc finger protein 266	6	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GGCCAAATTCTTGTAGTTCTC	0.438												
KRI1	65095	broad.mit.edu	37	19	10664802	10664802	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:10664802G>T	uc002moy.1	-	19	1964	c.1955C>A	c.(1954-1956)CCC>CAC	p.P652H	KRI1_uc002mow.1_Missense_Mutation_p.P271H|KRI1_uc002mox.1_Missense_Mutation_p.P648H	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	KRI1 homolog	652										ovary(1)	1			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCGCTTCTGGGGGGCTGGCTT	0.647												
ILF3	3609	broad.mit.edu	37	19	10782043	10782043	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:10782043G>A	uc002mpn.2	+	4	560	c.243G>A	c.(241-243)AAG>AAA	p.K81K	ILF3_uc002mpm.2_Silent_p.K81K|ILF3_uc002mpl.2_Silent_p.K81K|ILF3_uc002mpk.2_Silent_p.K81K|ILF3_uc010xli.1_Intron|ILF3_uc002mpo.2_Silent_p.K81K	NM_012218	NP_036350	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3 isoform a	81					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)			GGGAACAGAAGACGGAGCACA	0.582												
SMARCA4	6597	broad.mit.edu	37	19	11121099	11121099	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:11121099G>T	uc002mqf.3	+	15	2450	c.2166G>T	c.(2164-2166)CAG>CAT	p.Q722H	SMARCA4_uc010dxp.2_Missense_Mutation_p.Q722H|SMARCA4_uc010dxo.2_Missense_Mutation_p.Q722H|SMARCA4_uc002mqg.1_Missense_Mutation_p.Q722H|SMARCA4_uc010dxq.2_Missense_Mutation_p.Q722H|SMARCA4_uc010dxr.2_Missense_Mutation_p.Q722H|SMARCA4_uc002mqj.3_Missense_Mutation_p.Q722H|SMARCA4_uc010dxs.2_Missense_Mutation_p.Q722H|SMARCA4_uc010dxt.1_5'Flank	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	722					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCGTGTCCCAGGCCCTTGCAC	0.542			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome			
SMARCA4	6597	broad.mit.edu	37	19	11123693	11123693	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:11123693G>T	uc002mqf.3	+	16	2627	c.2343G>T	c.(2341-2343)ATG>ATT	p.M781I	SMARCA4_uc010dxp.2_Missense_Mutation_p.M781I|SMARCA4_uc010dxo.2_Missense_Mutation_p.M781I|SMARCA4_uc002mqg.1_Missense_Mutation_p.M781I|SMARCA4_uc010dxq.2_Missense_Mutation_p.M781I|SMARCA4_uc010dxr.2_Missense_Mutation_p.M781I|SMARCA4_uc002mqj.3_Missense_Mutation_p.M781I|SMARCA4_uc010dxs.2_Missense_Mutation_p.M781I|SMARCA4_uc010dxt.1_Missense_Mutation_p.M1I	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	781	Helicase ATP-binding.|ATP (Potential).				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGACGAGATGGGCCTGGGGA	0.577			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome			
ZNF653	115950	broad.mit.edu	37	19	11606948	11606948	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:11606948C>T	uc002mrz.1	-	3	429	c.376G>A	c.(376-378)GTG>ATG	p.V126M		NM_138783	NP_620138	Q96CK0	ZN653_HUMAN	zinc finger protein 653	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CAGATCACCACGTTCTTCAGG	0.627												
TNPO2	30000	broad.mit.edu	37	19	12817467	12817467	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:12817467G>A	uc002muo.2	-	13	1598	c.1413C>T	c.(1411-1413)CCC>CCT	p.P471P	TNPO2_uc002mup.2_Silent_p.P563P|TNPO2_uc002muq.2_Silent_p.P471P|TNPO2_uc002mur.2_Silent_p.P471P|SNORD41_uc002mut.1_5'Flank	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN	transportin 2 (importin 3, karyopherin beta 2b)	471					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			ovary(1)	1						GGTGCATGTCGGGTGGCTGGC	0.632												
CACNA1A	773	broad.mit.edu	37	19	13419248	13419248	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:13419248C>T	uc010dze.2	-	13	2002	c.1766G>A	c.(1765-1767)CGT>CAT	p.R589H	CACNA1A_uc010dzc.2_Missense_Mutation_p.R114H|CACNA1A_uc002mwy.3_Missense_Mutation_p.R588H|CACNA1A_uc010xne.1_Missense_Mutation_p.R114H	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	589	Helical; Name=S4 of repeat II; (Potential).|II.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TTTGAAAATACGCAATAACCT	0.507												
CC2D1A	54862	broad.mit.edu	37	19	14034594	14034594	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:14034594G>A	uc002mxo.2	+	17	2209	c.1910G>A	c.(1909-1911)CGC>CAC	p.R637H	CC2D1A_uc002mxp.2_Missense_Mutation_p.R637H|CC2D1A_uc010dzh.2_Missense_Mutation_p.R206H|CC2D1A_uc002mxq.1_Missense_Mutation_p.R282H	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	637					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CCCACCGCCCGCTTTGAGCAA	0.627												
PODNL1	79883	broad.mit.edu	37	19	14046600	14046600	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:14046600G>A	uc002mxr.2	-	5	723	c.449C>T	c.(448-450)GCG>GTG	p.A150V	PODNL1_uc010xni.1_Missense_Mutation_p.A68V|PODNL1_uc010xnj.1_Missense_Mutation_p.A148V|PODNL1_uc002mxs.2_Intron	NM_024825	NP_079101	Q6PEZ8	PONL1_HUMAN	podocan-like 1 isoform 1	150	Leu-rich.|LRR 4.					proteinaceous extracellular matrix				central_nervous_system(1)	1			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			AGCCAGATCCGCGACACGGAG	0.667												
CYP4F3	4051	broad.mit.edu	37	19	15760019	15760019	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:15760019T>C	uc002nbj.2	+	6	625	c.575T>C	c.(574-576)TTT>TCT	p.F192S	CYP4F3_uc010xok.1_Missense_Mutation_p.F192S|CYP4F3_uc010xol.1_Missense_Mutation_p.F192S|CYP4F3_uc010xom.1_Missense_Mutation_p.F43S|CYP4F3_uc002nbk.2_Missense_Mutation_p.F192S|CYP4F3_uc010xon.1_5'Flank	NM_000896	NP_000887	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F,	192					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			ovary(3)	3						CTGGACATGTTTGAGCACATC	0.572												
CYP4F11	57834	broad.mit.edu	37	19	16040318	16040318	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:16040318G>T	uc002nbu.2	-	3	328	c.292C>A	c.(292-294)CTC>ATC	p.L98I	CYP4F11_uc010eab.1_Missense_Mutation_p.L98I|CYP4F11_uc002nbt.2_Missense_Mutation_p.L98I	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN	cytochrome P450 family 4 subfamily F polypeptide	98					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1						AAAATGAGGAGGGGGAAGGTA	0.552												
SIN3B	23309	broad.mit.edu	37	19	16986971	16986971	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:16986971C>T	uc002ney.1	+	16	2808	c.2794C>T	c.(2794-2796)CGC>TGC	p.R932C	SIN3B_uc002nez.1_Missense_Mutation_p.R900C|SIN3B_uc010xpi.1_Missense_Mutation_p.R490C|SIN3B_uc010eaj.1_5'Flank	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	932					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2						CCGCTGCGTCCGCGCTGCTAG	0.647												
ANKLE1	126549	broad.mit.edu	37	19	17394149	17394149	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:17394149C>A	uc002nga.2	+	5	852	c.576C>A	c.(574-576)AGC>AGA	p.S192R	ANKLE1_uc010xpm.1_RNA|ANKLE1_uc010eao.1_Missense_Mutation_p.S214R|ANKLE1_uc010xpn.1_Missense_Mutation_p.S246R|ANKLE1_uc002nfy.2_Missense_Mutation_p.S181R|ANKLE1_uc002nfz.2_5'UTR	NM_152363	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat domain 41	192						nuclear envelope					0						GACCCCCCAGCCTCCCTGTTC	0.592												
MAP1S	55201	broad.mit.edu	37	19	17838610	17838610	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:17838610C>T	uc002nhe.1	+	5	2426	c.2417C>T	c.(2416-2418)GCG>GTG	p.A806V	MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_Missense_Mutation_p.A54V|MAP1S_uc010xpv.1_Missense_Mutation_p.A780V	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	806	Pro-rich.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for association with microtubules.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1						GCCCCCGGTGCGGCAGACTCA	0.692												
GDF15	9518	broad.mit.edu	37	19	18499232	18499232	+	Silent	SNP	A	A	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:18499232A>C	uc002niv.2	+	2	446	c.414A>C	c.(412-414)ACA>ACC	p.T138T		NM_004864	NP_004855	Q99988	GDF15_HUMAN	growth differentiation factor 15	138					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)	1						GGGACGTGACACGACCGCTGC	0.726											OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
COMP	1311	broad.mit.edu	37	19	18900795	18900795	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:18900795C>T	uc002nke.2	-	4	382	c.346G>A	c.(346-348)GCG>ACG	p.A116T	COMP_uc002nkd.2_Missense_Mutation_p.A83T|COMP_uc010xqj.1_Missense_Mutation_p.A116T	NM_000095	NP_000086	P49747	COMP_HUMAN	cartilage oligomeric matrix protein precursor	116	EGF-like 1.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding				0						GTGAAGCCCGCGGGGCAGGGG	0.736												
ZNF93	81931	broad.mit.edu	37	19	20045515	20045515	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:20045515A>C	uc002non.2	+	4	1862	c.1751A>C	c.(1750-1752)AAG>ACG	p.K584T		NM_031218	NP_112495	P35789	ZNF93_HUMAN	zinc finger protein 93	584	C2H2-type 16.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1						TCTTCACATAAGAAAATCCAT	0.383												
ZNF430	80264	broad.mit.edu	37	19	21216290	21216290	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:21216290T>A	uc002npj.2	+	3	235	c.125T>A	c.(124-126)ATA>AAA	p.I42K	ZNF430_uc002npk.2_Missense_Mutation_p.I42K	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2						GATGTGGCCATAGAATTTTCT	0.428												
ZNF676	163223	broad.mit.edu	37	19	22362819	22362819	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:22362819C>T	uc002nqs.1	-	3	2018	c.1700G>A	c.(1699-1701)GGC>GAC	p.G567D		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	567	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AAAAGCTTTGCCACATTCTTC	0.378												
CCDC123	84902	broad.mit.edu	37	19	33370222	33370222	+	Missense_Mutation	SNP	C	C	T	rs141423846		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:33370222C>T	uc002nty.2	-	19	2287	c.2198G>A	c.(2197-2199)CGA>CAA	p.R733Q	CCDC123_uc002ntx.2_Missense_Mutation_p.R486Q|CCDC123_uc010edg.2_RNA	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN	coiled-coil domain containing 123	733						centrosome|spindle pole					0	Esophageal squamous(110;0.137)					GAGAAGTTCTCGGATTCTTCG	0.483												
KCTD15	79047	broad.mit.edu	37	19	34302406	34302406	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:34302406G>A	uc002nuy.3	+	6	910	c.642G>A	c.(640-642)ACG>ACA	p.T214T	KCTD15_uc002nuv.2_Silent_p.T214T|KCTD15_uc002nuw.3_Silent_p.T214T|KCTD15_uc010xrt.1_Silent_p.T214T|KCTD15_uc002nux.3_Silent_p.T214T	NM_001129994	NP_001123466	Q96SI1	KCD15_HUMAN	potassium channel tetramerisation domain	214						voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1	Esophageal squamous(110;0.162)					AGGACCCCACGCACGTCATCC	0.687												
MAG	4099	broad.mit.edu	37	19	35791193	35791193	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:35791193G>A	uc002nyy.1	+	6	1005	c.856G>A	c.(856-858)GAG>AAG	p.E286K	MAG_uc002nyx.1_Missense_Mutation_p.E286K|MAG_uc010eds.1_Missense_Mutation_p.E261K|MAG_uc002nyz.1_Missense_Mutation_p.E286K	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	286	Ig-like C2-type 2.|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)			GGCGGTGGCCGAGAGCCTGCT	0.701												
ETV2	2116	broad.mit.edu	37	19	36134636	36134636	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:36134636C>T	uc002oas.2	+	4	1219	c.780C>T	c.(778-780)TGC>TGT	p.C260C	ETV2_uc002oar.2_Silent_p.C232C|ETV2_uc002oat.2_Silent_p.C139C|ETV2_uc002oau.2_Intron	NM_014209	NP_055024	O00321	ETV2_HUMAN	ets variant gene 2	231							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGCTCGATGCCCCAAAACTA	0.657												
ZNF585A	199704	broad.mit.edu	37	19	37644345	37644345	+	Silent	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:37644345A>G	uc002ofo.1	-	5	687	c.456T>C	c.(454-456)CTT>CTC	p.L152L	ZNF585A_uc002ofm.1_Silent_p.L97L|ZNF585A_uc002ofn.1_Silent_p.L97L	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTCTCCTGCAAGAACTTTCA	0.393												
NFKBIB	4793	broad.mit.edu	37	19	39398282	39398282	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:39398282G>A	uc002ojw.2	+	5	1010	c.952G>A	c.(952-954)GAC>AAC	p.D318N	NFKBIB_uc002ojx.2_Missense_Mutation_p.D286N|NFKBIB_uc002ojy.2_Missense_Mutation_p.D318N	NM_002503	NP_002494	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene	318					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			lung(1)|kidney(1)	2	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TAGCGACAGCGACAGCGGAGA	0.662												
SAMD4B	55095	broad.mit.edu	37	19	39860427	39860427	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:39860427C>T	uc002olb.2	+	6	1364	c.329C>T	c.(328-330)GCC>GTC	p.A110V	SAMD4B_uc002ola.2_Missense_Mutation_p.A110V	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	110							protein binding				0	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			AAAGTGCTGGCCTACTCAATC	0.582												
SUPT5H	6829	broad.mit.edu	37	19	39961097	39961097	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:39961097C>T	uc002olo.3	+	18	1790	c.1611C>T	c.(1609-1611)GGC>GGT	p.G537G	SUPT5H_uc002olp.3_Silent_p.G537G|SUPT5H_uc002olq.3_Silent_p.G533G|SUPT5H_uc002oln.3_Silent_p.G537G|SUPT5H_uc002olr.3_Silent_p.G537G|SUPT5H_uc002ols.1_Silent_p.G160G|SUPT5H_uc010egp.1_5'Flank	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	537					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ATGAATGGGGCGAGCTGGTGC	0.612												
FCGBP	8857	broad.mit.edu	37	19	40363285	40363285	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:40363285C>T	uc002omp.3	-	32	14793	c.14785G>A	c.(14785-14787)GTG>ATG	p.V4929M		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	4929	VWFD 12.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGCCGTCCACGGTGACCTGG	0.667												
SERTAD1	29950	broad.mit.edu	37	19	40929414	40929414	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:40929414C>T	uc002ont.3	-	2	199	c.40G>A	c.(40-42)GAG>AAG	p.E14K		NM_013376	NP_037508	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	14					positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent						0			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCCTTCTCCTCCTCCTCCTCC	0.443												
CEACAM3	1084	broad.mit.edu	37	19	42301697	42301697	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:42301697G>T	uc002orn.1	+	2	317	c.241G>T	c.(241-243)GGA>TGA	p.G81*	CEACAM3_uc010eia.1_Nonsense_Mutation_p.G81*|CEACAM3_uc002oro.1_RNA	NM_001815	NP_001806	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion	81	Ig-like V-type.|Extracellular (Potential).					integral to membrane				skin(1)	1						TCTAATTGTAGGATATGTAAT	0.498												
LIPE	3991	broad.mit.edu	37	19	42911534	42911534	+	Silent	SNP	C	C	T	rs150537286	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:42911534C>T	uc002otr.2	-	6	2206	c.1929G>A	c.(1927-1929)TCG>TCA	p.S643S	uc010eif.1_Intron	NM_005357	NP_005348	Q05469	LIPS_HUMAN	hormone-sensitive lipase	643					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			ovary(1)|breast(1)	2		Prostate(69;0.00682)				TCAGGGACCGCGAGCGGGGTG	0.677												
PLAUR	5329	broad.mit.edu	37	19	44174241	44174241	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:44174241A>G	uc002oxf.1	-	1	262	c.32T>C	c.(31-33)CTG>CCG	p.L11P	PLAUR_uc002oxd.1_Missense_Mutation_p.L11P|PLAUR_uc002oxe.1_5'Flank|PLAUR_uc002oxg.1_Missense_Mutation_p.L11P	NM_002659	NP_002650	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	11					attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity			ovary(1)	1		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	GTGGagcagcagcagcagcgg	0.562												
ZNF235	9310	broad.mit.edu	37	19	44791754	44791754	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:44791754A>G	uc002oza.3	-	5	1937	c.1834T>C	c.(1834-1836)TCA>CCA	p.S612P	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.S608P|ZNF235_uc010xwx.1_Missense_Mutation_p.S526P	NM_004234	NP_004225	Q14590	ZN235_HUMAN	zinc finger protein 93 homolog	612	C2H2-type 12.				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)				TGAAGGTGTGAGGCCTGACTG	0.488												
MARK4	57787	broad.mit.edu	37	19	45805809	45805809	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:45805809C>T	uc002pbb.1	+	17	2105	c.2100C>T	c.(2098-2100)CAC>CAT	p.H700H	MARK4_uc002pba.1_3'UTR			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;	700					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)		CCTGCCTGCACGGGGGTGCGG	0.746												
HIF3A	64344	broad.mit.edu	37	19	46832597	46832597	+	Missense_Mutation	SNP	G	G	A	rs142248233	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:46832597G>A	uc002peh.2	+	12	1603	c.1574G>A	c.(1573-1575)CGG>CAG	p.R525Q	HIF3A_uc002peg.3_Missense_Mutation_p.R525Q|HIF3A_uc002pei.3_Missense_Mutation_p.R469Q|HIF3A_uc002pej.1_Intron|HIF3A_uc002pek.2_Missense_Mutation_p.R469Q|HIF3A_uc010xxy.1_Missense_Mutation_p.R456Q|HIF3A_uc002pel.2_Missense_Mutation_p.R523Q|HIF3A_uc010xxz.1_Missense_Mutation_p.R474Q	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	525	ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCCCGTGCTCGGAGCTTCCAT	0.672												
CCDC8	83987	broad.mit.edu	37	19	46915732	46915732	+	Silent	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:46915732G>T	uc002pep.2	-	1	1188	c.336C>A	c.(334-336)ACC>ACA	p.T112T		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	112						plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		TGTCTCTGGAGGTCTCGAAGT	0.652												
CARD8	22900	broad.mit.edu	37	19	48733886	48733886	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:48733886C>G	uc002pie.3	-	6	839	c.526G>C	c.(526-528)GCC>CCC	p.A176P	CARD8_uc002pii.3_Missense_Mutation_p.A282P|CARD8_uc010xzi.1_Missense_Mutation_p.A177P|CARD8_uc010els.2_Missense_Mutation_p.A215P|CARD8_uc010xzj.1_Missense_Mutation_p.A282P|CARD8_uc010xzk.1_Missense_Mutation_p.A201P|CARD8_uc002pif.3_Missense_Mutation_p.A176P|CARD8_uc002pig.3_Missense_Mutation_p.A7P|CARD8_uc002pih.3_Missense_Mutation_p.A232P|CARD8_uc010xzl.1_Missense_Mutation_p.A232P|CARD8_uc010xzm.1_Missense_Mutation_p.A282P	NM_014959	NP_055774	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	176					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity				0		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		TCCACCCGGGCTGGATGCTCC	0.577												
GRIN2D	2906	broad.mit.edu	37	19	48908191	48908191	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:48908191G>A	uc002pjc.3	+	3	754	c.666G>A	c.(664-666)ACG>ACA	p.T222T		NM_000836	NP_000827	O15399	NMDE4_HUMAN	N-methyl-D-aspartate receptor subunit 2D	222	Extracellular (Potential).					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			ovary(3)|breast(3)	6		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GAGCGCTGACGCTGGACCCTG	0.706												
RASIP1	54922	broad.mit.edu	37	19	49238628	49238628	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:49238628C>T	uc002pki.2	-	4	1201	c.1004G>A	c.(1003-1005)CGG>CAG	p.R335Q		NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Ras-interacting protein 1	335					signal transduction	Golgi stack|perinuclear region of cytoplasm				pancreas(1)	1		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CCGCCGCCGCCGCCCCTGAAG	0.677												
SLC6A16	28968	broad.mit.edu	37	19	49793594	49793594	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:49793594A>G	uc002pmz.2	-	12	2231	c.1997T>C	c.(1996-1998)CTT>CCT	p.L666P	SLC6A16_uc002pna.2_3'UTR	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	666	Helical; Name=12; (Potential).					integral to membrane|intracellular	neurotransmitter:sodium symporter activity			skin(2)|ovary(1)|kidney(1)	4		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		AATGGCAAAAAGGGTGATCAT	0.512												
IRF3	3661	broad.mit.edu	37	19	50166672	50166672	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:50166672C>T	uc010end.1	-	3	647	c.265G>A	c.(265-267)GGG>AGG	p.G89R	IRF3_uc002pos.1_5'Flank|IRF3_uc002pot.1_Missense_Mutation_p.G89R|IRF3_uc002pox.1_Missense_Mutation_p.G89R|IRF3_uc002poy.1_Missense_Mutation_p.G89R|IRF3_uc002pou.2_Missense_Mutation_p.G89R|IRF3_uc002pov.2_5'UTR|IRF3_uc002pow.2_Missense_Mutation_p.G89R|IRF3_uc002poz.1_Missense_Mutation_p.G89R|IRF3_uc010ene.1_Intron|BCL2L12_uc002ppa.2_5'Flank|BCL2L12_uc002ppb.2_5'Flank	NM_001571	NP_001562	Q14653	IRF3_HUMAN	interferon regulatory factor 3	89	IRF tryptophan pentad repeat.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(2)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		AAACGCAACCCTTCTTTGCGG	0.577												
CPT1C	126129	broad.mit.edu	37	19	50195521	50195521	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:50195521G>A	uc002ppj.2	+	2	217	c.12G>A	c.(10-12)GCG>GCA	p.A4A	CPT1C_uc002ppl.3_Silent_p.A4A|CPT1C_uc002ppi.2_5'UTR|CPT1C_uc002ppk.2_Silent_p.A4A|CPT1C_uc010eng.2_Silent_p.A4A|CPT1C_uc010enh.2_Silent_p.A4A|CPT1C_uc010ybc.1_5'UTR	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C isoform 2	4	Cytoplasmic (Potential).				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TGGCTGAAGCGCACCAGGCCG	0.473												
MYH14	79784	broad.mit.edu	37	19	50752310	50752310	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:50752310C>T	uc002prr.1	+	12	1419	c.1372C>T	c.(1372-1374)CGC>TGC	p.R458C	MYH14_uc010enu.1_Missense_Mutation_p.R466C|MYH14_uc002prq.1_Missense_Mutation_p.R466C	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	458	Myosin head-like.			R -> S (in Ref. 5; BG468611).	axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCTGGTTCTGCGCCTCAACCG	0.672												
NR1H2	7376	broad.mit.edu	37	19	50882014	50882014	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:50882014G>A	uc010enw.2	+	7	987	c.711G>A	c.(709-711)CAG>CAA	p.Q237Q	NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Silent_p.Q236Q|NR1H2_uc002psa.3_Silent_p.Q139Q	NM_007121	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	236	Ligand-binding (Potential).				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CCCAACTGCAGTGCAACAAAC	0.612												
FAM71E1	112703	broad.mit.edu	37	19	50979543	50979543	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:50979543G>A	uc002psh.2	-	1	461	c.103C>T	c.(103-105)CAT>TAT	p.H35Y	FAM71E1_uc002psg.2_Missense_Mutation_p.H35Y|FAM71E1_uc002psi.2_RNA|C19orf63_uc002psj.2_5'Flank|C19orf63_uc002psk.2_5'Flank|C19orf63_uc002psl.2_5'Flank	NM_138411	NP_612420	Q6IPT2	F71E1_HUMAN	hypothetical protein LOC112703	35										breast(1)	1		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		ACGTCATGATGCGGAGCGGGC	0.652												
LRRC4B	94030	broad.mit.edu	37	19	51021472	51021472	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:51021472C>T	uc002pss.2	-	3	1635	c.1498G>A	c.(1498-1500)GGA>AGA	p.G500R		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	500	Gly-rich.|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)		GCCTCCTCTCCGGGCTGCGTC	0.542												
KLK11	11012	broad.mit.edu	37	19	51527542	51527542	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:51527542C>A	uc002pvd.1	-	4	430	c.318G>T	c.(316-318)CAG>CAT	p.Q106H	KLK11_uc002pvb.1_Missense_Mutation_p.Q99H|KLK11_uc002pve.1_5'UTR|KLK11_uc002pvf.1_Missense_Mutation_p.Q74H|KLK11_uc002pvc.3_Missense_Mutation_p.Q74H|KLK11_uc010eom.2_Missense_Mutation_p.A76S	NM_144947	NP_659196	Q9UBX7	KLK11_HUMAN	kallikrein 11 isoform 2 precursor	106	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		GGAGGTTGTGCTGCCCCAGGT	0.602												
ZNF480	147657	broad.mit.edu	37	19	52819102	52819102	+	Missense_Mutation	SNP	A	A	G	rs146196080	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:52819102A>G	uc010ydl.1	+	4	285	c.215A>G	c.(214-216)GAC>GGC	p.D72G	ZNF480_uc002pyv.2_5'UTR|ZNF480_uc010ydm.1_Intron|ZNF480_uc010epn.2_Intron|uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	zinc finger protein 480	72	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TCTCTTCCTGACCTGAATATT	0.413												
ZNF701	55762	broad.mit.edu	37	19	53085749	53085749	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:53085749C>T	uc002pzs.1	+	4	564	c.437C>T	c.(436-438)TCG>TTG	p.S146L	ZNF701_uc010ydn.1_Missense_Mutation_p.S212L	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	zinc finger protein 701	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AGCTTTCATTCGCATCTGCCT	0.408												
ZNF765	91661	broad.mit.edu	37	19	53912301	53912301	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:53912301A>G	uc010ydx.1	+	6	1820	c.1493A>G	c.(1492-1494)GAT>GGT	p.D498G	ZNF765_uc002qbm.2_Missense_Mutation_p.D498G|ZNF765_uc002qbn.2_Intron	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	498	C2H2-type 11; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00379)		AAATGTGAAGATTGTGATGAA	0.398												
LILRA2	11027	broad.mit.edu	37	19	55098813	55098813	+	Nonstop_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:55098813A>G	uc002qgg.3	+	8	1541	c.1452A>G	c.(1450-1452)TGA>TGG	p.*484W	LILRA2_uc010ern.2_3'UTR|LILRA2_uc002qgf.2_Nonstop_Mutation_p.*467W|LILRA2_uc010ero.2_Nonstop_Mutation_p.*455W|LILRA2_uc010yfg.1_Intron	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	484					defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)		CCGGGAGGTGAACAGCAGAGA	0.562												
SYT5	6861	broad.mit.edu	37	19	55687229	55687229	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:55687229G>C	uc002qjm.1	-	4	1448	c.388C>G	c.(388-390)CTG>GTG	p.L130V	SYT5_uc002qjp.2_Missense_Mutation_p.L127V|SYT5_uc002qjn.1_Missense_Mutation_p.L130V|SYT5_uc002qjo.1_Missense_Mutation_p.L130V	NM_003180	NP_003171	O00445	SYT5_HUMAN	synaptotagmin V	130	Cytoplasmic (Potential).|C2 1.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity				0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		ATTGCTTGCAGAATGCCCACC	0.607												
HSPBP1	23640	broad.mit.edu	37	19	55790814	55790814	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:55790814C>T	uc002qjx.2	-	1	411	c.301G>A	c.(301-303)GCG>ACG	p.A101T	HSPBP1_uc002qjy.2_Missense_Mutation_p.A55T|HSPBP1_uc002qkb.2_Missense_Mutation_p.A55T|HSPBP1_uc002qka.2_Missense_Mutation_p.A55T|HSPBP1_uc002qkd.2_Missense_Mutation_p.A55T|HSPBP1_uc002qkc.2_Missense_Mutation_p.A55T|BRSK1_uc002qkf.2_5'Flank	NM_012267	NP_036399	Q9NZL4	HPBP1_HUMAN	hsp70-interacting protein	58					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding				0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TCAGAGCCCGCGGTGATGGCC	0.662												
ZNF835	90485	broad.mit.edu	37	19	57175267	57175267	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:57175267C>T	uc010ygo.1	-	2	1366	c.1366G>A	c.(1366-1368)GCC>ACC	p.A456T	ZNF835_uc010ygn.1_Missense_Mutation_p.A434T	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						TGGTGCAGGGCGAGCGAGGAG	0.652												
PEG3	5178	broad.mit.edu	37	19	57335816	57335816	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:57335816G>T	uc002qnu.2	-	1	559	c.208C>A	c.(208-210)CTC>ATC	p.L70I	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_5'UTR|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.L70I|PEG3_uc002qnv.2_Missense_Mutation_p.L70I|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Missense_Mutation_p.L70I	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	70	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCGAGGCAGAGGTTTCGGAGT	0.502												
ZNF211	10520	broad.mit.edu	37	19	58153457	58153457	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:58153457A>G	uc002qpq.2	+	3	1783	c.1603A>G	c.(1603-1605)AGG>GGG	p.R535G	ZNF211_uc010yhb.1_Missense_Mutation_p.R539G|ZNF211_uc002qpp.2_Missense_Mutation_p.R548G|ZNF211_uc002qpr.2_Missense_Mutation_p.R599G|ZNF211_uc002qps.2_Missense_Mutation_p.R600G|ZNF211_uc002qpt.2_Missense_Mutation_p.R547G|ZNF211_uc010yhc.1_Missense_Mutation_p.R547G|ZNF211_uc010yhd.1_Missense_Mutation_p.R474G|ZNF211_uc010yhe.1_Missense_Mutation_p.R526G	NM_198855	NP_942152	Q13398	ZN211_HUMAN	zinc finger protein 211 isoform 2	535						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACGGGAAAAAGGCCTTATCA	0.458												
ZNF586	54807	broad.mit.edu	37	19	58288015	58288015	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:58288015C>T	uc002qqd.2	+	2	327	c.141C>T	c.(139-141)ACC>ACT	p.T47T	ZNF587_uc002qqb.2_Intron|ZNF586_uc002qqe.2_Intron|ZNF586_uc010euh.2_Silent_p.T4T|ZNF586_uc002qqf.1_Intron	NM_017652	NP_060122	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	47	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGCTGGAGACCTTGACACTTA	0.478												
ZNF606	80095	broad.mit.edu	37	19	58490178	58490178	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:58490178A>T	uc002qqw.2	-	7	2488	c.1870T>A	c.(1870-1872)TAT>AAT	p.Y624N	ZNF606_uc010yhp.1_Missense_Mutation_p.Y534N	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	624	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTACATTCATAGGGCTTAATT	0.403												
ZNF329	79673	broad.mit.edu	37	19	58640644	58640644	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:58640644C>T	uc002qrn.2	-	4	464	c.227G>A	c.(226-228)AGC>AAC	p.S76N	ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	zinc finger protein 329	76					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		AAGGTCTGAGCTTGCAATCAA	0.493												
RPS5	6193	broad.mit.edu	37	19	58904820	58904820	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:58904820C>T	uc002qsn.2	+	4	485	c.413C>T	c.(412-414)GCT>GTT	p.A138V	RPS5_uc002qso.2_Missense_Mutation_p.A138V	NM_001009	NP_001000	P46782	RS5_HUMAN	ribosomal protein S5	138					endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome				0		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		AGACGACAGGCTGTGGATGTG	0.647												
KCNF1	3754	broad.mit.edu	37	2	11052611	11052611	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:11052611G>A	uc002rax.2	+	1	549	c.59G>A	c.(58-60)AGC>AAC	p.S20N		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	20	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		TCCGCTGCCAGCGACGACATA	0.597												
KCNF1	3754	broad.mit.edu	37	2	11053197	11053197	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:11053197C>T	uc002rax.2	+	1	1135	c.645C>T	c.(643-645)AAC>AAT	p.N215N		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	215						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCGAGGGCAACCGCGTGGAGC	0.652												
MYCN	4613	broad.mit.edu	37	2	16085828	16085828	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:16085828C>T	uc002rci.2	+	3	1304	c.1004C>T	c.(1003-1005)CCC>CTC	p.P335L	MYCN_uc010yjr.1_Missense_Mutation_p.P327L	NM_005378	NP_005369	P04198	MYCN_HUMAN	v-myc myelocytomatosis viral related oncogene,	335					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			TATGCCGCCCCCTCTCCCTAC	0.612			A		neuroblastoma							
APOB	338	broad.mit.edu	37	2	21238054	21238054	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:21238054T>G	uc002red.2	-	23	3715	c.3587A>C	c.(3586-3588)GAT>GCT	p.D1196A		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1196					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATCGGAGAGATCCACAGGGAA	0.408												
NCOA1	8648	broad.mit.edu	37	2	24962359	24962359	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:24962359G>A	uc002rfk.2	+	16	3518	c.3260G>A	c.(3259-3261)GGC>GAC	p.G1087D	NCOA1_uc010eye.2_Missense_Mutation_p.G1087D|NCOA1_uc002rfi.2_Missense_Mutation_p.G936D|NCOA1_uc002rfj.2_Missense_Mutation_p.G1087D|NCOA1_uc002rfl.2_Missense_Mutation_p.G1087D|NCOA1_uc010eyf.2_5'Flank	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	1087	Gln-rich.								PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTCCTGTTGGCATCAATATG	0.373			T	PAX3	alveolar rhadomyosarcoma							
CAPN13	92291	broad.mit.edu	37	2	30998797	30998797	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:30998797C>T	uc002rnn.2	-	4	562	c.386G>A	c.(385-387)CGG>CAG	p.R129Q	CAPN13_uc002rnp.1_Missense_Mutation_p.R129Q	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	calpain 13	129	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			large_intestine(1)|ovary(1)	2	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CACACGTACCCGGAAACGGAA	0.512												
BIRC6	57448	broad.mit.edu	37	2	32688342	32688342	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:32688342G>A	uc010ezu.2	+	24	4968	c.4834G>A	c.(4834-4836)GCA>ACA	p.A1612T		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	1612					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					CCTGAGTTCAGCAGCCCAGGT	0.532												
LTBP1	4052	broad.mit.edu	37	2	33568029	33568029	+	Silent	SNP	G	G	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:33568029G>C	uc002ros.2	+	25	3858	c.3858G>C	c.(3856-3858)GTG>GTC	p.V1286V	LTBP1_uc002rot.2_Silent_p.V960V|LTBP1_uc002rou.2_Silent_p.V959V|LTBP1_uc002rov.2_Silent_p.V906V|LTBP1_uc010ymz.1_Intron|LTBP1_uc010yna.1_Intron|LTBP1_uc010ynb.1_Intron	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1285					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AAGGGTGTGTGGGTGAGTTTT	0.473												
GALM	130589	broad.mit.edu	37	2	38908522	38908522	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:38908522C>T	uc002rqy.2	+	3	698	c.446C>T	c.(445-447)ACA>ATA	p.T149I		NM_138801	NP_620156	Q96C23	GALM_HUMAN	galactose mutarotase	149					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding				0		all_hematologic(82;0.248)				GTCTGGGTGACATACACCCTG	0.547												
PRKCE	5581	broad.mit.edu	37	2	46234667	46234667	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:46234667G>T	uc002rut.2	+	9	1327	c.1130G>T	c.(1129-1131)CGG>CTG	p.R377L		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	377					activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity			lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			GAGGAGCACCGGGCAGCATCG	0.537												
FOXN2	3344	broad.mit.edu	37	2	48602420	48602420	+	Silent	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:48602420A>G	uc002rwh.1	+	7	1449	c.1134A>G	c.(1132-1134)AAA>AAG	p.K378K		NM_002158	NP_002149	P32314	FOXN2_HUMAN	T-cell leukemia virus enhancer factor	378					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			TCTCTGAAAAAGGGCAGTCAG	0.438												
FSHR	2492	broad.mit.edu	37	2	49210274	49210274	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:49210274G>A	uc002rww.2	-	7	630	c.556C>T	c.(556-558)CAC>TAC	p.H186Y	FSHR_uc002rwx.2_Missense_Mutation_p.H186Y|FSHR_uc010fbn.2_Missense_Mutation_p.H160Y|FSHR_uc010fbo.1_RNA	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	186	Extracellular (Potential).|LRR 6.				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GCACAGTTGTGTATTTCTTGA	0.368									Gonadal_Dysgenesis_46_XX			
SPTBN1	6711	broad.mit.edu	37	2	54856337	54856337	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:54856337G>A	uc002rxu.2	+	14	2315	c.2066G>A	c.(2065-2067)GGC>GAC	p.G689D	SPTBN1_uc002rxv.1_Missense_Mutation_p.G689D|SPTBN1_uc002rxx.2_Missense_Mutation_p.G676D	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	689	Spectrin 4.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			GAGATGAGCGGCCGCAGTGGC	0.582												
SPTBN1	6711	broad.mit.edu	37	2	54895586	54895586	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:54895586C>T	uc002rxu.2	+	36	7224	c.6975C>T	c.(6973-6975)CGC>CGT	p.R2325R	SPTBN1_uc010you.1_Silent_p.R315R	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	2325					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			CATCCAGCCGCGCGCAGACCC	0.582												
BCL11A	53335	broad.mit.edu	37	2	60688902	60688902	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:60688902C>T	uc002sae.1	-	4	1373	c.1145G>A	c.(1144-1146)TGC>TAC	p.C382Y	BCL11A_uc002sab.2_Missense_Mutation_p.C382Y|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Missense_Mutation_p.C348Y|BCL11A_uc002sad.1_Missense_Mutation_p.C230Y|BCL11A_uc002saf.1_Missense_Mutation_p.C348Y	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	382	C2H2-type 2.				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)			CGTCTTGCCGCAGAACTCGCA	0.652			T	IGH@	B-CLL							
CEP68	23177	broad.mit.edu	37	2	65305048	65305048	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:65305048T>C	uc002sdl.3	+	5	2268	c.2054T>C	c.(2053-2055)GTC>GCC	p.V685A	CEP68_uc010yqb.1_Intron|CEP68_uc002sdk.3_Missense_Mutation_p.V548A|CEP68_uc010yqc.1_Missense_Mutation_p.V685A	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	685					centrosome organization	centrosome				skin(1)	1						ACGGAGAGTGTCTTACAGAAG	0.418												
ARHGAP25	9938	broad.mit.edu	37	2	69034514	69034514	+	Silent	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:69034514C>A	uc002seu.2	+	5	937	c.573C>A	c.(571-573)GGC>GGA	p.G191G	ARHGAP25_uc010yqk.1_Silent_p.G166G|ARHGAP25_uc010fdg.2_Silent_p.G192G|ARHGAP25_uc010yql.1_Silent_p.G152G|ARHGAP25_uc002sev.2_Silent_p.G185G|ARHGAP25_uc002sew.2_Silent_p.G184G|ARHGAP25_uc002sex.2_Silent_p.G185G|ARHGAP25_uc010fdh.1_RNA|ARHGAP25_uc002sey.2_5'UTR	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	191	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4						TGGAGCACGGCCGGAATGAAG	0.582												
AAK1	22848	broad.mit.edu	37	2	69748102	69748102	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:69748102G>A	uc002sfp.2	-	11	1579	c.1074C>T	c.(1072-1074)CCC>CCT	p.P358P	AAK1_uc010fdk.2_Silent_p.P358P|AAK1_uc010yqm.1_Silent_p.P358P|SNORA36C_uc010fdl.2_5'Flank	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	358						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity				0						TCTCTGTGGTGGGAATGGGAT	0.527												
ADD2	119	broad.mit.edu	37	2	70922922	70922922	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:70922922G>A	uc002sgz.2	-	6	951	c.486C>T	c.(484-486)AGC>AGT	p.S162S	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Silent_p.S162S|ADD2_uc002sha.2_Silent_p.S162S|ADD2_uc002sgx.2_Silent_p.S162S|ADD2_uc010fdt.1_Silent_p.S162S|ADD2_uc002shc.1_Silent_p.S162S|ADD2_uc002shd.1_Silent_p.S162S|ADD2_uc010fdu.1_Silent_p.S178S	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	162					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			ovary(2)|pancreas(1)	3						CCTGCTCCTTGCTGACTCTCA	0.537												
DYSF	8291	broad.mit.edu	37	2	71708055	71708055	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:71708055C>A	uc002sie.2	+	2	507	c.131C>A	c.(130-132)CCT>CAT	p.P44H	DYSF_uc010feg.2_Missense_Mutation_p.P44H|DYSF_uc010feh.2_Missense_Mutation_p.P44H|DYSF_uc002sig.3_Missense_Mutation_p.P44H|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.P44H|DYSF_uc010fef.2_Missense_Mutation_p.P44H|DYSF_uc010fei.2_Missense_Mutation_p.P44H|DYSF_uc010fek.2_Missense_Mutation_p.P45H|DYSF_uc010fej.2_Missense_Mutation_p.P45H|DYSF_uc010fel.2_Missense_Mutation_p.P45H|DYSF_uc010feo.2_Missense_Mutation_p.P45H|DYSF_uc010fem.2_Missense_Mutation_p.P45H|DYSF_uc010fen.2_Missense_Mutation_p.P45H|DYSF_uc002sif.2_Missense_Mutation_p.P45H	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	44	Cytoplasmic (Potential).|C2 1.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						AGCGTGAACCCTGTATGGAAT	0.502												
SLC4A5	57835	broad.mit.edu	37	2	74513011	74513011	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:74513011T>G	uc002sko.1	-	3	292	c.290A>C	c.(289-291)CAG>CCG	p.Q97P	SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.Q97P|SLC4A5_uc010ffc.1_Missense_Mutation_p.Q97P|SLC4A5_uc002skp.1_Missense_Mutation_p.Q33P|SLC4A5_uc002sks.1_Missense_Mutation_p.Q97P	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	97	Cytoplasmic (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9						GTCCTGGAGCTGCTCAGCAGC	0.582												
HK2	3099	broad.mit.edu	37	2	75116469	75116469	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:75116469G>A	uc002snd.2	+	17	4399	c.2473G>A	c.(2473-2475)GTG>ATG	p.V825M		NM_000189	NP_000180	P52789	HXK2_HUMAN	hexokinase 2	825	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			ovary(1)|lung(1)	2						GGTGTGCACTGTGGTGGCCCG	0.607												
REG3A	5068	broad.mit.edu	37	2	79386462	79386462	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:79386462C>A	uc002sod.1	-	1	325	c.70G>T	c.(70-72)GTT>TTT	p.V24F	REG3A_uc002soe.1_Missense_Mutation_p.V24F|REG3A_uc002sof.1_Missense_Mutation_p.V24F	NM_138938	NP_620355	Q06141	REG3A_HUMAN	pancreatitis-associated protein precursor	24					acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			skin(1)	1						TCACCTTGAACCTGAGACAGC	0.532												
FAHD2B	151313	broad.mit.edu	37	2	97751467	97751467	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:97751467G>A	uc002sxm.2	-	5	805	c.654C>T	c.(652-654)GGC>GGT	p.G218G		NM_199336	NP_955368	Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing	218							hydrolase activity|metal ion binding				0						CCAAGGCAGGGCCCAGAGGGC	0.577												
FHL2	2274	broad.mit.edu	37	2	105979823	105979823	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:105979823G>A	uc002tcu.2	-	5	944	c.607C>T	c.(607-609)CGC>TGC	p.R203C	FHL2_uc002tdc.2_Missense_Mutation_p.R89C|FHL2_uc002tdd.2_Missense_Mutation_p.R203C|FHL2_uc002tct.2_Missense_Mutation_p.R89C|FHL2_uc002tcv.2_Missense_Mutation_p.R203C|FHL2_uc002tcw.2_Missense_Mutation_p.R203C|FHL2_uc002tcx.2_Missense_Mutation_p.R203C|FHL2_uc010fje.2_Missense_Mutation_p.R116C|FHL2_uc002tcy.2_Missense_Mutation_p.R203C|FHL2_uc002tcz.2_Missense_Mutation_p.R313C|FHL2_uc002tda.2_RNA|FHL2_uc002tdb.2_Missense_Mutation_p.R319C	NM_201557	NP_963851	Q14192	FHL2_HUMAN	four and a half LIM domains 2	203	LIM zinc-binding 3.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			ovary(1)	1						AAGTCATCGCGAGCTGTGAAG	0.612												
SH3RF3	344558	broad.mit.edu	37	2	110015388	110015388	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:110015388G>T	uc010ywt.1	+	4	1288	c.1288G>T	c.(1288-1290)GCT>TCT	p.A430S		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	430							zinc ion binding			ovary(1)	1						GTCGTGCGCTGCTCCCACCCA	0.602												
ANAPC1	64682	broad.mit.edu	37	2	112621367	112621367	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:112621367A>G	uc002thi.2	-	9	1184	c.937T>C	c.(937-939)TCC>CCC	p.S313P		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	313					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						GTCACAGGGGAATCTCCTTTG	0.493												
IL1F5	26525	broad.mit.edu	37	2	113820192	113820192	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:113820192C>A	uc002tis.2	+	5	539	c.406C>A	c.(406-408)CTT>ATT	p.L136I	IL1F5_uc002tit.2_Missense_Mutation_p.L136I	NM_173170	NP_775262	Q9UBH0	I36RA_HUMAN	interleukin 1 family, member 5	136						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity				0						ACTCACCCAGCTTCCCGAGAA	0.632												
CNTNAP5	129684	broad.mit.edu	37	2	125192241	125192241	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:125192241G>T	uc002tno.2	+	5	1074	c.710G>T	c.(709-711)AGG>ATG	p.R237M	CNTNAP5_uc010flu.2_Missense_Mutation_p.R237M	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	237	Laminin G-like 1.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		CAGAAGGGGAGGCTCGCCCTA	0.537												
MYO7B	4648	broad.mit.edu	37	2	128345990	128345990	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:128345990G>A	uc002top.2	+	15	1767	c.1714G>A	c.(1714-1716)GTG>ATG	p.V572M		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	572	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GAACCGAGACGTGCTGAGCAC	0.547												
NCKAP5	344148	broad.mit.edu	37	2	133540748	133540748	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:133540748A>T	uc002ttp.2	-	14	4010	c.3636T>A	c.(3634-3636)GAT>GAA	p.D1212E	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1212							protein binding				0						GTGCTTGTGAATCCGGTAGGG	0.522												
YSK4	80122	broad.mit.edu	37	2	135738531	135738531	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:135738531C>A	uc002tue.1	-	9	3811	c.3780G>T	c.(3778-3780)ATG>ATT	p.M1260I	YSK4_uc002tuf.1_Missense_Mutation_p.M442I|YSK4_uc010fnc.1_Missense_Mutation_p.M394I|YSK4_uc010fnd.1_Missense_Mutation_p.M1147I|YSK4_uc010zbg.1_Missense_Mutation_p.M392I|YSK4_uc002tuh.3_Missense_Mutation_p.M988I|YSK4_uc002tui.3_3'UTR	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Yeast Sps1/Ste20-related kinase 4 isoform 1	1260	Protein kinase.						ATP binding|protein serine/threonine kinase activity			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCCCTGTAGCCATCTCAAACA	0.517												
DARS	1615	broad.mit.edu	37	2	136719000	136719000	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:136719000G>T	uc002tux.1	-	4	470	c.286C>A	c.(286-288)CAT>AAT	p.H96N	DARS_uc010fnj.1_5'UTR	NM_001349	NP_001340	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	96					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	TTGCTTGCATGGTCTCCCACC	0.433												
ZEB2	9839	broad.mit.edu	37	2	145156721	145156721	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:145156721G>A	uc002tvu.2	-	8	2513	c.2033C>T	c.(2032-2034)TCC>TTC	p.S678F	ZEB2_uc002tvv.2_Missense_Mutation_p.S672F|ZEB2_uc010zbm.1_Missense_Mutation_p.S649F|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.S707F	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	678	Homeobox; atypical.					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		CACAGCAATGGAAATTTTCAG	0.458												
RBM43	375287	broad.mit.edu	37	2	152107949	152107949	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:152107949C>T	uc002txh.2	-	4	693	c.545G>A	c.(544-546)AGT>AAT	p.S182N		NM_198557	NP_940959	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	182							nucleotide binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(221;0.131)		TCTCTCCTCACTGGTAAAATT	0.423												
FIGN	55137	broad.mit.edu	37	2	164467312	164467312	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:164467312T>C	uc002uck.1	-	3	1341	c.1030A>G	c.(1030-1032)ACA>GCA	p.T344A		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	344						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4						GGACTCTGTGTAGATCTCTGT	0.433												
SCN2A	6326	broad.mit.edu	37	2	166164371	166164371	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:166164371C>G	uc002udc.2	+	4	690	c.400C>G	c.(400-402)CTC>GTC	p.L134V	SCN2A_uc002udd.2_Missense_Mutation_p.L134V|SCN2A_uc002ude.2_Missense_Mutation_p.L134V	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	134	I.|Helical; Name=S1 of repeat I; (Potential).				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	ATTCAATATGCTCATTATGTG	0.338												
CSRNP3	80034	broad.mit.edu	37	2	166535566	166535566	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:166535566G>A	uc002udf.2	+	7	1437	c.1061G>A	c.(1060-1062)AGC>AAC	p.S354N	CSRNP3_uc002udg.2_Missense_Mutation_p.S354N	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	354	Glu-rich.				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|large_intestine(1)|skin(1)	5						AGCTTTTGCAGCGGAGTCACA	0.433												
LRP2	4036	broad.mit.edu	37	2	170034507	170034507	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:170034507T>C	uc002ues.2	-	53	10412	c.10199A>G	c.(10198-10200)CAC>CGC	p.H3400R		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3400	LDL-receptor class B 33.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATACACCGTGTGTCGATGGTG	0.438												
KLHL23	151230	broad.mit.edu	37	2	170592513	170592513	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:170592513C>T	uc002ufh.1	+	4	1327	c.989C>T	c.(988-990)ACG>ATG	p.T330M	KLHL23_uc002ufi.1_Missense_Mutation_p.T330M	NM_144711	NP_653312	Q8NBE8	KLH23_HUMAN	kelch-like 23	330	Kelch 2.										0						GGCTACAGGACGGATAACATA	0.428												
HAT1	8520	broad.mit.edu	37	2	172841220	172841220	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:172841220G>T	uc002uhi.2	+	9	1024	c.948G>T	c.(946-948)GAG>GAT	p.E316D	HAT1_uc010fqi.2_Missense_Mutation_p.E151D|HAT1_uc002uhj.2_Missense_Mutation_p.E231D	NM_003642	NP_003633	O14929	HAT1_HUMAN	histone acetyltransferase 1	316					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			large_intestine(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TGGCGATAGAGGCACAACAGA	0.318												
RBM45	129831	broad.mit.edu	37	2	178977345	178977345	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:178977345C>T	uc002ulv.2	+	1	164	c.72C>T	c.(70-72)CCC>CCT	p.P24P		NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	24					cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			ACGAACCGCCCAACAGCCGCA	0.642											OREG0015102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TTN	7273	broad.mit.edu	37	2	179400220	179400220	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:179400220A>C	uc010zfg.1	-	307	93642	c.93418T>G	c.(93418-93420)TTA>GTA	p.L31140V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.L24835V|TTN_uc010zfi.1_Missense_Mutation_p.L24768V|TTN_uc010zfj.1_Missense_Mutation_p.L24643V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32067							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)			GTCCATGTTAAGTTGACAGAA	0.453												
TTN	7273	broad.mit.edu	37	2	179437337	179437337	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:179437337T>C	uc010zfg.1	-	275	66042	c.65818A>G	c.(65818-65820)AAG>GAG	p.K21940E	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K15635E|TTN_uc010zfi.1_Missense_Mutation_p.K15568E|TTN_uc010zfj.1_Missense_Mutation_p.K15443E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22867							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)			AATGCAGACTTGCTGCCTGAA	0.423												
TTN	7273	broad.mit.edu	37	2	179454780	179454780	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:179454780C>T	uc010zfg.1	-	253	54192	c.53968G>A	c.(53968-53970)GCC>ACC	p.A17990T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A11685T|TTN_uc010zfi.1_Missense_Mutation_p.A11618T|TTN_uc010zfj.1_Missense_Mutation_p.A11493T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18917							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)			GAACCTTGGGCATGTCCACTG	0.433												
TTN	7273	broad.mit.edu	37	2	179498051	179498051	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:179498051G>A	uc010zfg.1	-	182	35469	c.35245C>T	c.(35245-35247)CGA>TGA	p.R11749*	TTN_uc010zfh.1_Nonsense_Mutation_p.R5444*|TTN_uc010zfi.1_Nonsense_Mutation_p.R5377*|TTN_uc010zfj.1_Nonsense_Mutation_p.R5252*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12676							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R11749T(1)		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)			TTTATTAGTCGAGCTGAAATG	0.393												
SSFA2	6744	broad.mit.edu	37	2	182784165	182784165	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:182784165G>A	uc002uoi.2	+	14	3458	c.3136G>A	c.(3136-3138)GCA>ACA	p.A1046T	SSFA2_uc002uoh.2_Missense_Mutation_p.A1046T|SSFA2_uc002uoj.2_Missense_Mutation_p.A1046T|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.A893T|SSFA2_uc002uol.2_Missense_Mutation_p.A893T|SSFA2_uc002uom.2_Missense_Mutation_p.A514T	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	sperm specific antigen 2 isoform 1	1046						cytoplasm|plasma membrane	actin binding			breast(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			CCGCTCCTCCGCACTCATGGT	0.522												
STRADB	55437	broad.mit.edu	37	2	202342485	202342485	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:202342485C>T	uc002uyd.3	+	8	1057	c.692C>T	c.(691-693)CCG>CTG	p.P231L		NM_018571	NP_061041	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	231	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			skin(2)|stomach(1)|lung(1)	4						TCAGTGCAGCCGTGGCTGAGT	0.512												
CPS1	1373	broad.mit.edu	37	2	211473216	211473216	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:211473216G>A	uc002vee.3	+	19	2456	c.2324G>A	c.(2323-2325)CGC>CAC	p.R775H	CPS1_uc010fur.2_Missense_Mutation_p.R781H|CPS1_uc010fus.2_Missense_Mutation_p.R324H	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	775					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AAGATTCCCCGCTGGGATCTT	0.463												
ERBB4	2066	broad.mit.edu	37	2	212426794	212426794	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:212426794C>T	uc002veg.1	-	20	2419	c.2321G>A	c.(2320-2322)AGT>AAT	p.S774N	ERBB4_uc002veh.1_Missense_Mutation_p.S774N|ERBB4_uc010zji.1_Missense_Mutation_p.S764N|ERBB4_uc010zjj.1_Missense_Mutation_p.S764N|ERBB4_uc010fut.1_Missense_Mutation_p.S774N	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	774	Protein kinase.|Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ATGATCCATACTTGCCATGAT	0.433										TSP Lung(8;0.080)		
ABCA12	26154	broad.mit.edu	37	2	215835098	215835098	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:215835098T>C	uc002vew.2	-	37	5809	c.5589A>G	c.(5587-5589)CCA>CCG	p.P1863P	ABCA12_uc002vev.2_Silent_p.P1545P|ABCA12_uc010zjn.1_Silent_p.P790P	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1863					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTCTGTGCGGTGGGGAATAGT	0.353												
TNS1	7145	broad.mit.edu	37	2	218757703	218757703	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:218757703C>T	uc002vgt.2	-	9	773	c.375G>A	c.(373-375)GCG>GCA	p.A125A	TNS1_uc002vgr.2_Silent_p.A125A|TNS1_uc002vgs.2_Silent_p.A125A|TNS1_uc010zjv.1_Silent_p.A125A|TNS1_uc010fvj.1_Silent_p.A193A|TNS1_uc010fvk.1_Silent_p.A250A|TNS1_uc002vgu.3_Silent_p.A156A	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	125	Phosphatase tensin-type.					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)		GCATGTAAGCCGCGATGACAA	0.532												
ARPC2	10109	broad.mit.edu	37	2	219099093	219099093	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:219099093G>T	uc002vhd.2	+	5	353	c.241G>T	c.(241-243)GGG>TGG	p.G81W	ARPC2_uc002vhe.2_Missense_Mutation_p.G81W|ARPC2_uc002vhf.2_5'Flank	NM_152862	NP_690601	O15144	ARPC2_HUMAN	actin related protein 2/3 complex subunit 2	81					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		GAGGGTGTACGGGAGTTTCTT	0.328												
SPEG	10290	broad.mit.edu	37	2	220329302	220329302	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:220329302G>A	uc010fwg.2	+	9	2853	c.2853G>A	c.(2851-2853)CGG>CGA	p.R951R	SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_Silent_p.R159R|SPEG_uc002vln.1_Silent_p.R159R|SPEG_uc002vlp.1_Silent_p.R159R|SPEG_uc002vlq.2_Silent_p.R102R	NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	951	Ig-like 3.				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)		ATGGTGCTCGGCAGTGCGAGG	0.617												
SPEG	10290	broad.mit.edu	37	2	220342493	220342493	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:220342493C>A	uc010fwg.2	+	21	4812	c.4812C>A	c.(4810-4812)CAC>CAA	p.H1604Q		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1604	Protein kinase 1.				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)		ATGACATCCACCAGGAGATCG	0.617												
INHA	3623	broad.mit.edu	37	2	220439918	220439918	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:220439918T>C	uc002vmk.1	+	2	915	c.771T>C	c.(769-771)GCT>GCC	p.A257A		NM_002191	NP_002182	P05111	INHA_HUMAN	inhibin alpha subunit precursor	257					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AGGAACCGGCTGCCCATGCCA	0.617												
IRS1	3667	broad.mit.edu	37	2	227662289	227662289	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:227662289G>A	uc002voh.3	-	1	1218	c.1166C>T	c.(1165-1167)CCG>CTG	p.P389L		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	389	Ser-rich.				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)		CAGACTGACCGGGCTGGTGGC	0.682											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PSMD1	5707	broad.mit.edu	37	2	232011035	232011035	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:232011035A>G	uc002vrn.1	+	18	2211	c.2080A>G	c.(2080-2082)ATC>GTC	p.I694V	PSMD1_uc002vrm.1_Missense_Mutation_p.I694V|PSMD1_uc010fxu.1_Missense_Mutation_p.I558V	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	proteasome 26S non-ATPase subunit 1	694	PC 9.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			ovary(1)|skin(1)	2		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TTCAGCTCTCATCATGATCCA	0.413												
NMUR1	10316	broad.mit.edu	37	2	232390057	232390057	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:232390057C>A	uc002vry.3	-	3	1088	c.978G>T	c.(976-978)TGG>TGT	p.W326C		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	326	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			lung(3)|central_nervous_system(1)|pancreas(1)	5		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGCCATCTGTCCACTGTGACA	0.622												
ALPI	248	broad.mit.edu	37	2	233321171	233321171	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:233321171C>T	uc002vst.3	+	2	257	c.180C>T	c.(178-180)GGC>GGT	p.G60G	ALPI_uc002vsu.3_5'UTR	NM_001631	NP_001622	P09923	PPBI_HUMAN	intestinal alkaline phosphatase precursor	60					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			central_nervous_system(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TCTTCCTGGGCGATGGTGAGT	0.647												
GIGYF2	26058	broad.mit.edu	37	2	233626135	233626135	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:233626135G>A	uc002vti.3	+	10	858	c.521G>A	c.(520-522)CGA>CAA	p.R174Q	GIGYF2_uc010zmj.1_Missense_Mutation_p.R174Q|GIGYF2_uc002vtg.2_Missense_Mutation_p.R174Q|GIGYF2_uc002vtj.3_Missense_Mutation_p.R174Q|GIGYF2_uc002vtk.3_Missense_Mutation_p.R174Q|GIGYF2_uc002vth.3_Missense_Mutation_p.R174Q|GIGYF2_uc010zmk.1_RNA	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2 isoform b	174	Arg-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)		AAACCAGGACGAAAAGATGTA	0.378												
AGAP1	116987	broad.mit.edu	37	2	237028961	237028961	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:237028961C>T	uc002vvs.2	+	17	2835	c.2240C>T	c.(2239-2241)ACG>ATG	p.T747M	AGAP1_uc002vvt.2_Missense_Mutation_p.T694M	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	747					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						GACCTGCGGACGGCCATCCTG	0.721												
ASB1	51665	broad.mit.edu	37	2	239344627	239344627	+	Missense_Mutation	SNP	G	G	A	rs146985743		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:239344627G>A	uc002vyg.2	+	3	553	c.467G>A	c.(466-468)CGG>CAG	p.R156Q		NM_001040445	NP_001035535	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box-containing protein	156	ANK 4.				intracellular signal transduction|negative regulation of cytokine biosynthetic process						0		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		CGCGTGGGCCGGGCAGACATC	0.547												
HDLBP	3069	broad.mit.edu	37	2	242179357	242179357	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:242179357G>A	uc002waz.2	-	18	2578	c.2350C>T	c.(2350-2352)CGA>TGA	p.R784*	HDLBP_uc002wba.2_Nonsense_Mutation_p.R784*|HDLBP_uc002wbb.2_Nonsense_Mutation_p.R736*	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	784	KH 9.				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)		TGTGCCTCTCGGACGGCGTCC	0.622												
C20orf96	140680	broad.mit.edu	37	20	259839	259839	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:259839G>T	uc002wde.1	-	5	578	c.439C>A	c.(439-441)CTG>ATG	p.L147M	C20orf96_uc002wdc.2_Missense_Mutation_p.L94M|C20orf96_uc002wdd.2_Missense_Mutation_p.L112M|C20orf96_uc010zpi.1_Missense_Mutation_p.L94M|C20orf96_uc010zpj.1_Missense_Mutation_p.L112M|C20orf96_uc010zpk.1_Missense_Mutation_p.L85M	NM_153269	NP_695001	Q9NUD7	CT096_HUMAN	hypothetical protein LOC140680	147	Potential.										0		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			TGCTGCAGCAGGGCCCGCACG	0.488												
C20orf194	25943	broad.mit.edu	37	20	3299036	3299036	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:3299036G>A	uc002wii.2	-	17	1419	c.1368C>T	c.(1366-1368)GCC>GCT	p.A456A	C20orf194_uc002wij.3_Silent_p.A195A|C20orf194_uc002wik.2_Silent_p.A130A	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	456											0						TGTCATAGACGGCCATACAAG	0.398												
HSPA12B	116835	broad.mit.edu	37	20	3732766	3732766	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:3732766A>G	uc002wjd.2	+	13	2117	c.2014A>G	c.(2014-2016)AGC>GGC	p.S672G	HSPA12B_uc010zqi.1_Missense_Mutation_p.S671G|HSPA12B_uc002wje.2_Missense_Mutation_p.S585G|HSPA12B_uc010zqj.1_Missense_Mutation_p.S506G	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	672							ATP binding				0						CGTCGACGTCAGCACCAATCG	0.711												
CENPB	1059	broad.mit.edu	37	20	3766572	3766572	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:3766572C>T	uc002wjk.2	-	1	766	c.559G>A	c.(559-561)GCC>ACC	p.A187T	CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank	NM_001810	NP_001801	P07199	CENPB_HUMAN	centromere protein B	187					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding				0						TCCTGCGAGGCGTAGCCCTCG	0.731												
PROKR2	128674	broad.mit.edu	37	20	5283318	5283318	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:5283318C>T	uc010zqw.1	-	2	523	c.523G>A	c.(523-525)GCC>ACC	p.A175T	PROKR2_uc010zqx.1_Missense_Mutation_p.A175T|PROKR2_uc010zqy.1_Missense_Mutation_p.A175T	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	175	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5						CAGACCAAGGCGATCAGGAAG	0.493										HNSCC(71;0.22)		
GPCPD1	56261	broad.mit.edu	37	20	5564949	5564949	+	Silent	SNP	G	G	A	rs142496941	by1000genomes	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:5564949G>A	uc002wme.3	-	6	540	c.327C>T	c.(325-327)GAC>GAT	p.D109D	GPCPD1_uc002wmd.3_Translation_Start_Site	NM_019593	NP_062539	Q9NPB8	GPCP1_HUMAN	hypothetical protein LOC56261	109	CBM20.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity				0						ATTGTCCATCGTCAATAATAA	0.313												
ANKRD5	63926	broad.mit.edu	37	20	10026338	10026338	+	Silent	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:10026338T>G	uc002wno.2	+	6	1206	c.813T>G	c.(811-813)GCT>GCG	p.A271A	uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Silent_p.A271A|ANKRD5_uc010gbz.2_Silent_p.A82A	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	271	ANK 4.						calcium ion binding			ovary(1)|breast(1)	2						AATATATAGCTCAGCGAGGTA	0.423												
ANKRD5	63926	broad.mit.edu	37	20	10036204	10036204	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:10036204C>T	uc002wno.2	+	11	2620	c.2227C>T	c.(2227-2229)CGA>TGA	p.R743*	uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Nonsense_Mutation_p.R743*|ANKRD5_uc010gbz.2_Nonsense_Mutation_p.R554*	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	743							calcium ion binding			ovary(1)|breast(1)	2						GGAACTACGGCGAGAGAGGTT	0.463												
SLC24A3	57419	broad.mit.edu	37	20	19701764	19701764	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:19701764C>T	uc002wrl.2	+	17	2112	c.1915C>T	c.(1915-1917)CCC>TCC	p.P639S		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	639	Extracellular (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1						TGTGAACCTGCCCATGTGCGG	0.597												
RIN2	54453	broad.mit.edu	37	20	19972890	19972890	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:19972890C>T	uc002wro.1	+	9	2183	c.2147C>T	c.(2146-2148)ACT>ATT	p.T716I	RIN2_uc010gcu.1_Missense_Mutation_p.T283I|RIN2_uc010gcv.1_Missense_Mutation_p.T510I	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	716	VPS9.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			lung(4)|ovary(1)	5						GAATTGGACACTGAAATCGAG	0.468												
INSM1	3642	broad.mit.edu	37	20	20349795	20349795	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:20349795A>G	uc002wrx.2	+	1	1031	c.884A>G	c.(883-885)TAC>TGC	p.Y295C		NM_002196	NP_002187	Q01101	INSM1_HUMAN	insulinoma-associated 1	295	C2H2-type 2.				endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0649)		CGTGTGGAGTACCGCTGTCCC	0.537												
NKX2-2	4821	broad.mit.edu	37	20	21493107	21493107	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:21493107G>A	uc002wsi.2	-	2	633	c.276C>T	c.(274-276)GCC>GCT	p.A92A		NM_002509	NP_002500	O95096	NKX22_HUMAN	NK2 transcription factor related, locus 2	92					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			pancreas(1)|skin(1)	2						GGGGCGCCCCGGCAGCCAGAC	0.726												
PYGB	5834	broad.mit.edu	37	20	25257947	25257947	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:25257947G>A	uc002wup.2	+	7	949	c.840G>A	c.(838-840)CTG>CTA	p.L280L		NM_002862	NP_002853	P11216	PYGB_HUMAN	brain glycogen phosphorylase	280					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					Pyridoxal Phosphate(DB00114)	CCAGGGTCCTGTATCCAAATG	0.572												
NINL	22981	broad.mit.edu	37	20	25456869	25456869	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:25456869C>A	uc002wux.1	-	17	3132	c.3058G>T	c.(3058-3060)GGG>TGG	p.G1020W	NINL_uc010gdn.1_Intron	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	1020					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GGCAAGGACCCTCTCCTGGCA	0.677												
NINL	22981	broad.mit.edu	37	20	25457248	25457248	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:25457248G>A	uc002wux.1	-	17	2753	c.2679C>T	c.(2677-2679)CCC>CCT	p.P893P	NINL_uc010gdn.1_Intron	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	893					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GGGCAGGGGCGGGGGCCGGGC	0.687												
REM1	28954	broad.mit.edu	37	20	30064348	30064348	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:30064348A>C	uc002wwa.2	+	2	384	c.100A>C	c.(100-102)AGC>CGC	p.S34R		NM_014012	NP_054731	O75628	REM1_HUMAN	RAS-like GTP-binding protein REM	34					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			lung(2)|pancreas(2)	4	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGGCCGCCTGAGCACAGTGCC	0.647												
ASXL1	171023	broad.mit.edu	37	20	31023219	31023219	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:31023219C>T	uc002wxs.2	+	12	3130	c.2704C>T	c.(2704-2706)CCA>TCA	p.P902S	ASXL1_uc010geb.2_Missense_Mutation_p.P793S	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	902					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						GATACCCATCCCATCGAATGA	0.478			F|N|Mis		MDS|CMML							
C20orf112	140688	broad.mit.edu	37	20	31040055	31040055	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:31040055T>C	uc002wxu.3	-	7	1231	c.1074A>G	c.(1072-1074)ACA>ACG	p.T358T	C20orf112_uc010gec.2_Silent_p.T183T	NM_080616	NP_542183	Q96MY1	CT112_HUMAN	hypothetical protein LOC140688	358											0						TGTGGTTTCCTGTTTGGAGGG	0.652												
COMMD7	149951	broad.mit.edu	37	20	31315724	31315724	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:31315724T>A	uc002wya.3	-	3	834	c.217A>T	c.(217-219)AAA>TAA	p.K73*	COMMD7_uc010ged.2_Nonsense_Mutation_p.K72*|COMMD7_uc002wyb.2_Nonsense_Mutation_p.K73*	NM_053041	NP_444269	Q86VX2	COMD7_HUMAN	COMM domain containing 7 isoform 1	73					negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|tumor necrosis factor-mediated signaling pathway		NF-kappaB binding			breast(1)	1						AGGAGGCTTTTCACGATGCTT	0.468												
DNMT3B	1789	broad.mit.edu	37	20	31389173	31389173	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:31389173T>C	uc002wyc.2	+	19	2407	c.2086T>C	c.(2086-2088)TTT>CTT	p.F696L	DNMT3B_uc002wyd.2_Missense_Mutation_p.F676L|DNMT3B_uc002wye.2_Missense_Mutation_p.F676L|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Missense_Mutation_p.F634L|DNMT3B_uc010zua.1_Missense_Mutation_p.F600L|DNMT3B_uc002wyf.2_Missense_Mutation_p.F688L|DNMT3B_uc002wyg.2_Missense_Mutation_p.F395L|DNMT3B_uc010geg.2_5'UTR|DNMT3B_uc010geh.2_RNA	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	696					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			lung(3)|ovary(2)	5						CTTCTGGATGTTTGAGAATGT	0.542												
TGM2	7052	broad.mit.edu	37	20	36779433	36779433	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:36779433C>A	uc002xhr.2	-	4	560	c.460G>T	c.(460-462)GAG>TAG	p.E154*	TGM2_uc010zvx.1_Nonsense_Mutation_p.E73*|TGM2_uc010zvy.1_Nonsense_Mutation_p.E94*|TGM2_uc002xhs.1_Nonsense_Mutation_p.E130*|TGM2_uc002xht.2_Nonsense_Mutation_p.E154*|TGM2_uc002xhu.3_Nonsense_Mutation_p.E154*	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	154					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	TGCCGCTCCTCTTCCGAGTCC	0.577												
TGM2	7052	broad.mit.edu	37	20	36779450	36779450	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:36779450A>C	uc002xhr.2	-	4	543	c.443T>G	c.(442-444)GTG>GGG	p.V148G	TGM2_uc010zvx.1_Missense_Mutation_p.V67G|TGM2_uc010zvy.1_Missense_Mutation_p.V88G|TGM2_uc002xhs.1_Missense_Mutation_p.V124G|TGM2_uc002xht.2_Missense_Mutation_p.V148G|TGM2_uc002xhu.3_Missense_Mutation_p.V148G	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	148					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	GTCCAGGTACACAGCATCCGC	0.577												
ZSWIM3	140831	broad.mit.edu	37	20	44505691	44505691	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:44505691G>A	uc002xqd.2	+	2	697	c.494G>A	c.(493-495)GGC>GAC	p.G165D	ZSWIM3_uc010zxg.1_Missense_Mutation_p.G159D	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM domain containing 3	165							zinc ion binding			ovary(2)	2		Myeloproliferative disorder(115;0.0122)				GAGCAGGAAGGCATCACTCCT	0.493												
SPATA2	9825	broad.mit.edu	37	20	48524813	48524813	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:48524813C>T	uc010gie.2	-	2	565	c.215G>A	c.(214-216)AGC>AAC	p.S72N	SPATA2_uc002xuw.2_Missense_Mutation_p.S72N|SPATA2_uc010zyn.1_Intron	NM_001135773	NP_001129245	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	72					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|skin(1)	2	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			GCGCAAGGAGCTCTCCACCAC	0.607												
FAM65C	140876	broad.mit.edu	37	20	49211196	49211196	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:49211196T>C	uc002xvm.2	-	17	2412	c.2094A>G	c.(2092-2094)ACA>ACG	p.T698T	FAM65C_uc010zyt.1_Silent_p.T702T|FAM65C_uc010zyu.1_RNA	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	hypothetical protein LOC140876	698										ovary(2)	2						TGCCAGGCCCTGTGCACCCTC	0.612												
ZNF831	128611	broad.mit.edu	37	20	57769284	57769284	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:57769284T>C	uc002yan.2	+	1	3210	c.3210T>C	c.(3208-3210)GGT>GGC	p.G1070G		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1070						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					ACATGGAGGGTGACAGCCACC	0.627												
DIDO1	11083	broad.mit.edu	37	20	61512442	61512442	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:61512442G>A	uc002ydr.1	-	16	5130	c.4866C>T	c.(4864-4866)GGC>GGT	p.G1622G	DIDO1_uc002yds.1_Silent_p.G1622G	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1622					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					GGGGCTTTTCGCCCGAAGCCC	0.716												
KCNQ2	3785	broad.mit.edu	37	20	62076690	62076690	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:62076690C>T	uc002yey.1	-	3	592	c.415G>A	c.(415-417)GTG>ATG	p.V139M	KCNQ2_uc002yez.1_Missense_Mutation_p.V139M|KCNQ2_uc002yfa.1_Missense_Mutation_p.V139M|KCNQ2_uc002yfb.1_Missense_Mutation_p.V139M|KCNQ2_uc011aax.1_Missense_Mutation_p.V139M|KCNQ2_uc002yfc.1_Missense_Mutation_p.V139M	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	139	Helical; Name=Segment S2; (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	AAGTACTCCACGCCAAACACC	0.647												
UCKL1	54963	broad.mit.edu	37	20	62576024	62576024	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:62576024G>A	uc010gkn.2	-	6	761	c.718C>T	c.(718-720)CGG>TGG	p.R240W	UCKL1_uc002yhj.2_5'Flank|UCKL1_uc011abm.1_Missense_Mutation_p.R225W|UCKL1_uc011abn.1_RNA|UCKL1_uc011abo.1_RNA|MIR647_hsa-mir-647|MI0003662_5'Flank	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	240					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CTGATGTCCCGGCGCAGCCGC	0.607												
MYT1	4661	broad.mit.edu	37	20	62837074	62837074	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:62837074T>C	uc002yii.2	+	6	682	c.318T>C	c.(316-318)GAT>GAC	p.D106D	MYT1_uc002yih.2_Silent_p.D106D|MYT1_uc002yij.2_5'Flank	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	106					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CTGTTTCGGATGAATCGGAAG	0.587												
NRIP1	8204	broad.mit.edu	37	21	16338052	16338052	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:16338052C>T	uc002yjx.2	-	4	3060	c.2462G>A	c.(2461-2463)CGA>CAA	p.R821Q		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	821	Repression domain 3.|LXXLL motif 8.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TCTTAGCAATCGACTTAGCAG	0.423												
MRPL39	54148	broad.mit.edu	37	21	26979747	26979747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:26979747C>T	uc002ylo.2	-	1	55	c.41G>A	c.(40-42)TGG>TAG	p.W14*	MRPL39_uc002yln.2_Nonsense_Mutation_p.W14*	NM_017446	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39 isoform a	14						mitochondrial ribosome	nucleotide binding				0						TGCGACCAGCCAGAGCCGCAG	0.642											OREG0026146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
BACH1	571	broad.mit.edu	37	21	30714967	30714967	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:30714967G>A	uc002ynj.2	+	5	2139	c.2024G>A	c.(2023-2025)CGG>CAG	p.R675Q	BACH1_uc002ynk.2_Missense_Mutation_p.R675Q|BACH1_uc002ynl.2_Intron	NM_001186	NP_001177	O14867	BACH1_HUMAN	BTB and CNC homology 1 transcription factor	675						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|liver(1)	2						TTATCTGACCGGCCTCCAGCA	0.507												
KRTAP26-1	388818	broad.mit.edu	37	21	31691902	31691902	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:31691902T>G	uc002ynw.2	-	1	706	c.452A>C	c.(451-453)AAG>ACG	p.K151T		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	151						intermediate filament				ovary(1)	1						CTGGCAACTCTTGGACAAGCA	0.562												
HUNK	30811	broad.mit.edu	37	21	33318443	33318443	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:33318443G>A	uc002yph.2	+	4	1066	c.706G>A	c.(706-708)GCC>ACC	p.A236T		NM_014586	NP_055401	P57058	HUNK_HUMAN	hormonally upregulated Neu-associated kinase	236	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			stomach(1)|skin(1)	2						TGAACTGCTCGCCAGGAAGAA	0.542												
IFNAR1	3454	broad.mit.edu	37	21	34721569	34721569	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:34721569G>T	uc002yrn.2	+	7	1108	c.961G>T	c.(961-963)GAG>TAG	p.E321*	IFNAR1_uc011adv.1_Nonsense_Mutation_p.E252*	NM_000629	NP_000620	P17181	INAR1_HUMAN	interferon-alpha receptor 1 precursor	321	Fibronectin type-III 2.|Extracellular (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			central_nervous_system(1)|skin(1)	2					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TTGGTCTGAAGAGATAAAGTT	0.343												
HLCS	3141	broad.mit.edu	37	21	38308845	38308845	+	Silent	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:38308845G>T	uc010gnb.2	-	4	2101	c.900C>A	c.(898-900)CCC>CCA	p.P300P	HLCS_uc002yvs.2_Silent_p.P300P|HLCS_uc010gnc.1_Silent_p.P447P	NM_000411	NP_000402	P50747	BPL1_HUMAN	holocarboxylase synthetase	300					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			ovary(2)|breast(1)|kidney(1)|liver(1)	5		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GGAGCCTGCCGGGGCTGAGCC	0.592												
DSCR4	10281	broad.mit.edu	37	21	39493330	39493330	+	Missense_Mutation	SNP	G	G	A	rs148504310		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:39493330G>A	uc002ywp.2	-	1	125	c.20C>T	c.(19-21)ACG>ATG	p.T7M	DSCR8_uc002ywt.3_5'Flank|DSCR8_uc010gnp.2_5'Flank|DSCR8_uc010gnq.2_5'Flank|DSCR8_uc010gnr.2_5'Flank|DSCR8_uc010gns.2_5'Flank	NM_005867	NP_005858	P56555	DSCR4_HUMAN	Down syndrome critical region protein 4	7										ovary(1)	1						atcatctctcgtcaagatgat	0												
KCNJ15	3772	broad.mit.edu	37	21	39671647	39671647	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:39671647T>C	uc002ywv.2	+	4	766	c.464T>C	c.(463-465)TTG>TCG	p.L155S	KCNJ15_uc002yww.2_Missense_Mutation_p.L155S|KCNJ15_uc002ywx.2_Missense_Mutation_p.L155S	NM_002243	NP_002234	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel J15	155	Helical; Name=M2; (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6						ATCACGACCTTGATTGAGATC	0.512												
ETS2	2114	broad.mit.edu	37	21	40181960	40181960	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:40181960T>C	uc002yxg.2	+	2	198	c.2T>C	c.(1-3)ATG>ACG	p.M1T	ETS2_uc002yxf.2_Missense_Mutation_p.M141T	NM_005239	NP_005230	P15036	ETS2_HUMAN	v-ets erythroblastosis virus E26 oncogene	1					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|breast(1)|pancreas(1)	4		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TTTTTTAAGATGAATGATTTC	0.383												
ZNF295	49854	broad.mit.edu	37	21	43411690	43411690	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:43411690C>T	uc002zab.3	-	3	2729	c.2515G>A	c.(2515-2517)GTC>ATC	p.V839I	ZNF295_uc002yzz.3_Missense_Mutation_p.V638I|ZNF295_uc002yzy.3_Missense_Mutation_p.V839I|ZNF295_uc002zaa.3_Missense_Mutation_p.V839I	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	839					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3						TTTGTGGTGACGATGTGGTTT	0.463												
UBASH3A	53347	broad.mit.edu	37	21	43863456	43863456	+	Missense_Mutation	SNP	G	G	A	rs116752327	by1000genomes	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:43863456G>A	uc002zbe.2	+	13	1702	c.1666G>A	c.(1666-1668)GAG>AAG	p.E556K	UBASH3A_uc002zbf.2_Missense_Mutation_p.E518K|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Intron	NM_018961	NP_061834	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing,	556	Phosphatase-like.					cytosol|nucleus				ovary(3)	3						CATGCCGGCCGAGAGCTACCA	0.587												
PKNOX1	5316	broad.mit.edu	37	21	44448975	44448975	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:44448975A>G	uc002zcq.1	+	10	1278	c.1090A>G	c.(1090-1092)ATG>GTG	p.M364V	PKNOX1_uc002zcp.1_Missense_Mutation_p.M364V|PKNOX1_uc011aex.1_Missense_Mutation_p.M247V	NM_004571	NP_004562	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	364							sequence-specific DNA binding			large_intestine(2)	2						CGAGCTCACCATGTCGGAAGG	0.552												
C21orf33	8209	broad.mit.edu	37	21	45563112	45563112	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:45563112G>A	uc002zec.3	+	6	633	c.547G>A	c.(547-549)GCG>ACG	p.A183T	C21orf33_uc002zed.3_Missense_Mutation_p.A152T	NM_004649	NP_004640	P30042	ES1_HUMAN	es1 protein isoform Ia precursor	183						mitochondrion				ovary(1)	1				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		ACCTGTCCTCGCGGCCAAGGT	0.612												
ICOSLG	23308	broad.mit.edu	37	21	45657075	45657075	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:45657075C>T	uc002zee.2	-	3	215	c.81G>A	c.(79-81)GCG>GCA	p.A27A	ICOSLG_uc011afc.1_Intron|ICOSLG_uc002zef.2_Intron|ICOSLG_uc010gpp.1_Silent_p.A27A	NM_015259	NP_056074	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand precursor	27	Ig-like V-type.|Extracellular (Potential).				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding				0				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		TGCCTACCATCGCTCTGACTT	0.498												
POFUT2	23275	broad.mit.edu	37	21	46702346	46702346	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:46702346T>C	uc002zhc.2	-	4	581	c.556A>G	c.(556-558)AGG>GGG	p.R186G	POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_Missense_Mutation_p.R186G|POFUT2_uc011afp.1_Missense_Mutation_p.R186G	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2 isoform C	186					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity				0				Colorectal(79;0.243)		TTTAGACCCCTGGTCTCCTCA	0.532												
S100B	6285	broad.mit.edu	37	21	48019327	48019327	+	Silent	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:48019327G>T	uc002zju.1	-	3	339	c.228C>A	c.(226-228)GCC>GCA	p.A76A	S100B_uc002zjv.1_3'UTR	NM_006272	NP_006263	P04271	S100B_HUMAN	S100 calcium-binding protein, beta	76	EF-hand 2.				axonogenesis|cell proliferation|central nervous system development|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular region|nucleus|perinuclear region of cytoplasm|ruffle	calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|RAGE receptor binding|S100 beta binding|tau protein binding|zinc ion binding				0	Breast(49;0.247)	Lung NSC(3;0.245)		OV - Ovarian serous cystadenocarcinoma(3;1.84e-06)|Epithelial(3;4.45e-06)|all cancers(3;2.07e-05)|Colorectal(79;0.241)		TGGCAACAAAGGCCATGAATT	0.458												
SLC25A18	83733	broad.mit.edu	37	22	18064145	18064145	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:18064145G>A	uc002zmp.1	+	5	659	c.165G>A	c.(163-165)ACG>ACA	p.T55T	SLC25A18_uc010gqx.2_Silent_p.T55T|SLC25A18_uc002zmq.1_Silent_p.T55T	NM_031481	NP_113669	Q9H1K4	GHC2_HUMAN	solute carrier	55	Solcar 1.					integral to membrane|mitochondrial inner membrane	binding|symporter activity				0				Lung(27;0.124)	L-Glutamic Acid(DB00142)	TGATGAAGACGGCTCGGGCGG	0.652												
MICAL3	57553	broad.mit.edu	37	22	18389447	18389447	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:18389447C>A	uc002zng.3	-	2	485	c.132G>T	c.(130-132)AAG>AAT	p.K44N	MICAL3_uc011agl.1_Missense_Mutation_p.K44N|MICAL3_uc002znh.2_Missense_Mutation_p.K44N|MICAL3_uc002znk.1_Missense_Mutation_p.K44N|MICAL3_uc002znl.1_Translation_Start_Site|MICAL3_uc010grf.2_Missense_Mutation_p.K44N|MICAL3_uc011agm.1_Missense_Mutation_p.K44N	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	44						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		AGCGGTAGTCCTTTGGCTTTA	0.522												
ARVCF	421	broad.mit.edu	37	22	19965081	19965081	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:19965081C>T	uc002zqz.2	-	9	1998	c.1727G>A	c.(1726-1728)CGG>CAG	p.R576Q	ARVCF_uc002zqy.2_Missense_Mutation_p.R98Q	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	576	ARM 6.				cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					GGACAGGTTCCGCATGATGCA	0.687												
ZDHHC8	29801	broad.mit.edu	37	22	20130875	20130875	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:20130875C>T	uc002zrq.2	+	10	1828	c.1722C>T	c.(1720-1722)GGC>GGT	p.G574G	ZDHHC8_uc002zrr.1_Silent_p.G574G|ZDHHC8_uc010gsa.2_Silent_p.G380G	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	574	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Colorectal(54;0.0993)					CACTCTTCGGCGACTCAGGCG	0.662												
SCARF2	91179	broad.mit.edu	37	22	20786261	20786261	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:20786261G>A	uc002zsj.1	-	2	293	c.188C>T	c.(187-189)ACG>ATG	p.T63M	SCARF2_uc002zsk.1_Missense_Mutation_p.T63M	NM_153334	NP_699165	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2 isoform 1	63	Extracellular (Potential).				cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AGCGCAGCACGTGGGCACCTG	0.721												
AIFM3	150209	broad.mit.edu	37	22	21322261	21322261	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:21322261C>T	uc002ztj.2	+	2	247	c.29C>T	c.(28-30)CCA>CTA	p.P10L	AIFM3_uc002ztk.2_Missense_Mutation_p.P10L|AIFM3_uc002ztl.2_Missense_Mutation_p.P10L|AIFM3_uc011ahx.1_Nonsense_Mutation_p.Q35*	NM_144704	NP_653305	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor,	10					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)			AAACCCAAACCAGGTACCTCC	0.493												
SLC7A4	6545	broad.mit.edu	37	22	21384146	21384146	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:21384146C>A	uc002zud.2	-	3	1545	c.1477G>T	c.(1477-1479)GGC>TGC	p.G493C	SLC7A4_uc002zue.2_Missense_Mutation_p.G493C	NM_004173	NP_004164	O43246	CTR4_HUMAN	solute carrier family 7 (cationic amino acid	493	Helical; (Potential).				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			ovary(1)|lung(1)	2	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGCACGCAGCCTATGGTGATG	0.597												
RAB36	9609	broad.mit.edu	37	22	23503094	23503094	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:23503094C>T	uc002zwv.1	+	10	886	c.846C>T	c.(844-846)CGC>CGT	p.R282R	RAB36_uc010gtw.1_Silent_p.R260R	NM_004914	NP_004905	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	282					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		TCTTCAGCCGCGTAGCCGCCC	0.592												
ZNF70	7621	broad.mit.edu	37	22	24086127	24086127	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:24086127G>A	uc002zxs.2	-	2	1662	c.1201C>T	c.(1201-1203)CGG>TGG	p.R401W	ZNF70_uc002zxr.1_5'Flank	NM_021916	NP_068735	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	401	C2H2-type 10.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						GACCGGTGCCGGAAGGCTTTG	0.587												
GGT5	2687	broad.mit.edu	37	22	24629866	24629866	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:24629866A>T	uc002zzo.3	-	2	697	c.280T>A	c.(280-282)TTC>ATC	p.F94I	GGT5_uc002zzp.3_Missense_Mutation_p.F94I|GGT5_uc002zzr.3_Missense_Mutation_p.F94I|GGT5_uc002zzq.3_Missense_Mutation_p.F94I|GGT5_uc011ajm.1_Intron|GGT5_uc011ajn.1_Intron	NM_004121	NP_004112	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5 isoform b	94	Extracellular (Potential).				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			ovary(2)|skin(1)	3						TAGATGGTGAAGATGACCCCT	0.617												
C22orf36	388886	broad.mit.edu	37	22	24982323	24982323	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:24982323C>T	uc003aaq.2	-	4	508	c.479G>A	c.(478-480)GGC>GAC	p.G160D	GGT1_uc003aan.1_Intron|C22orf36_uc003aao.2_RNA|C22orf36_uc003aap.2_RNA	NM_207644	NP_997527	Q2VPJ9	LRC6X_HUMAN	hypothetical protein LOC388886	160											0						CAGCGGGATGCCTGAGAGGTC	0.617												
CCDC117	150275	broad.mit.edu	37	22	29169749	29169749	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:29169749G>A	uc003aeb.2	+	2	398	c.222G>A	c.(220-222)GAG>GAA	p.E74E	CCDC117_uc011aki.1_Intron|CCDC117_uc011akj.1_Silent_p.E74E|CCDC117_uc011akk.1_5'UTR	NM_173510	NP_775781	Q8IWD4	CC117_HUMAN	coiled-coil domain containing 117	74										breast(1)	1						ACAAGCGAGAGGAGGAGGAGG	0.378												
AP1B1	162	broad.mit.edu	37	22	29750678	29750678	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:29750678T>C	uc003afj.2	-	7	1083	c.899A>G	c.(898-900)TAT>TGT	p.Y300C	AP1B1_uc003afi.2_Missense_Mutation_p.Y300C|AP1B1_uc003afk.2_Missense_Mutation_p.Y300C|AP1B1_uc003afl.2_Missense_Mutation_p.Y300C	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	300					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2						CAGGGCCACATACTGCAGCTC	0.572												
SMTN	6525	broad.mit.edu	37	22	31487726	31487726	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:31487726A>G	uc003ajl.1	+	11	1743	c.1525A>G	c.(1525-1527)ATC>GTC	p.I509V	SMTN_uc003ajk.1_Missense_Mutation_p.I509V|SMTN_uc003ajm.1_Missense_Mutation_p.I509V|SMTN_uc011ale.1_Missense_Mutation_p.I563V|SMTN_uc011alf.1_Missense_Mutation_p.I565V|SMTN_uc003ajn.1_Missense_Mutation_p.I501V|SMTN_uc011alg.1_Intron|SMTN_uc003ajo.1_5'Flank|SMTN_uc011alh.1_5'Flank|SMTN_uc010gwe.1_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	smoothelin isoform c	509					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			large_intestine(2)|pancreas(1)	3						CAAGAGCACCATCACCCGTGT	0.647												
DEPDC5	9681	broad.mit.edu	37	22	32241050	32241050	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:32241050C>A	uc003als.2	+	30	2963	c.2821C>A	c.(2821-2823)CCA>ACA	p.P941T	DEPDC5_uc011als.1_Missense_Mutation_p.P872T|DEPDC5_uc011alu.1_Missense_Mutation_p.P950T|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.P941T|DEPDC5_uc003alu.2_Missense_Mutation_p.P390T|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Missense_Mutation_p.P271T|DEPDC5_uc003alw.2_Missense_Mutation_p.P239T|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_5'UTR	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	941					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						CCTGCTGCTGCCAGCCTGTGT	0.587												
MYH9	4627	broad.mit.edu	37	22	36745257	36745257	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:36745257A>G	uc003apg.2	-	2	256	c.25T>C	c.(25-27)TAT>CAT	p.Y9H	MYH9_uc003api.1_Missense_Mutation_p.Y9H	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	9	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						ACATAGAGATACTTATCGGCA	0.507			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated			
EIF3D	8664	broad.mit.edu	37	22	36916708	36916708	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:36916708G>A	uc003apq.2	-	7	609	c.493C>T	c.(493-495)CGT>TGT	p.R165C	EIF3D_uc011amr.1_5'UTR|EIF3D_uc003apr.2_Missense_Mutation_p.R165C|EIF3D_uc011ams.1_Missense_Mutation_p.R68C|EIF3D_uc011amt.1_Missense_Mutation_p.R116C	NM_003753	NP_003744	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3	165						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			pancreas(1)	1						CAATCACTACGAACTTCAACT	0.383												
DMC1	11144	broad.mit.edu	37	22	38948670	38948670	+	Splice_Site	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:38948670C>T	uc003avz.1	-	7	596	c.421_splice	c.e7+1	p.V141_splice	DMC1_uc011anv.1_Splice_Site_p.G141_splice|DMC1_uc003awa.1_Splice_Site_p.V141_splice	NM_007068	NP_008999	Q14565	DMC1_HUMAN	DMC1 dosage suppressor of mck1 homolog						reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			ovary(1)	1	Melanoma(58;0.0286)					TATATCCTTACCACAGAGGGT	0.289								Homologous_recombination				
TNRC6B	23112	broad.mit.edu	37	22	40657998	40657998	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:40657998C>T	uc011aor.1	+	4	489	c.278C>T	c.(277-279)CCG>CTG	p.P93L	TNRC6B_uc003aym.2_Missense_Mutation_p.P129L|TNRC6B_uc003ayn.3_Missense_Mutation_p.P93L|TNRC6B_uc003ayo.2_5'Flank	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	93					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0						GAGGTGCCGCCGCGATTCCGT	0.647												
TTLL12	23170	broad.mit.edu	37	22	43569788	43569788	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:43569788C>T	uc003bdq.2	-	9	1306	c.1274G>A	c.(1273-1275)CGC>CAC	p.R425H	TTLL12_uc003bdr.1_Missense_Mutation_p.R425H	NM_015140	NP_055955	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	425	TTL.				protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)	1		Ovarian(80;0.221)|Glioma(61;0.222)				GTCCAGGCTGCGCGCCAGGTT	0.682												
PARVB	29780	broad.mit.edu	37	22	44547380	44547380	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:44547380G>A	uc003ben.2	+	10	844	c.792G>A	c.(790-792)GTG>GTA	p.V264V	PARVB_uc003bem.2_Silent_p.V297V|PARVB_uc010gzn.2_Intron|PARVB_uc003beo.2_Silent_p.V227V	NM_013327	NP_037459	Q9HBI1	PARVB_HUMAN	parvin, beta isoform b	264	CH 2.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding				0		Ovarian(80;0.0246)|all_neural(38;0.0423)				TCACTTTTGTGAACAAGCACC	0.512												
TBC1D22A	25771	broad.mit.edu	37	22	47188435	47188435	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:47188435T>C	uc003bib.2	+	2	216	c.81T>C	c.(79-81)GGT>GGC	p.G27G	TBC1D22A_uc010haf.2_5'UTR|TBC1D22A_uc003bic.2_Silent_p.G27G|TBC1D22A_uc003bie.2_Intron|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_5'UTR	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	27						intracellular	protein homodimerization activity|Rab GTPase activator activity			ovary(1)	1		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		ACGTGTATGGTGCCCAGCACC	0.572												
SBF1	6305	broad.mit.edu	37	22	50905867	50905867	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:50905867C>T	uc003blh.2	-	5	644	c.449G>A	c.(448-450)GGC>GAC	p.G150D	SBF1_uc011arx.1_5'Flank|SBF1_uc003bli.2_Missense_Mutation_p.G151D	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	150	DENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ATAGATGAGGCCAAGGCTGTT	0.652												
TYMP	1890	broad.mit.edu	37	22	50967711	50967711	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:50967711G>C	uc003bmb.3	-	2	391	c.271C>G	c.(271-273)CTG>GTG	p.L91V	TYMP_uc003bmc.3_Missense_Mutation_p.L91V|TYMP_uc003bmd.3_Missense_Mutation_p.L91V|TYMP_uc010hbd.2_Missense_Mutation_p.L91V|TYMP_uc003bme.3_Missense_Mutation_p.L91V|TYMP_uc003bmf.3_Missense_Mutation_p.L91V|TYMP_uc011arz.1_Missense_Mutation_p.L91V	NM_001113756	NP_001107228	P19971	TYPH_HUMAN	endothelial cell growth factor 1	91					angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity			ovary(1)	1		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)	GCCTGGGTCAGCACCGAGGTC	0.657												
CNTN6	27255	broad.mit.edu	37	3	1424988	1424988	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:1424988G>C	uc003boz.2	+	19	2680	c.2413G>C	c.(2413-2415)GCC>CCC	p.A805P	CNTN6_uc011asj.1_Missense_Mutation_p.A733P|CNTN6_uc003bpa.2_Missense_Mutation_p.A805P	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	805	Fibronectin type-III 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ACCTCAACTGGCCCCAAGGGG	0.438												
CRBN	51185	broad.mit.edu	37	3	3195744	3195744	+	Missense_Mutation	SNP	A	A	G	rs144666584		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:3195744A>G	uc003bpq.2	-	8	870	c.851T>C	c.(850-852)GTA>GCA	p.V284A	CRBN_uc003bpr.2_Missense_Mutation_p.V283A|CRBN_uc010hbw.2_Missense_Mutation_p.V284A	NM_016302	NP_057386	Q96SW2	CRBN_HUMAN	cereblon	284	Lon.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding			ovary(1)	1				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)		ACAAGCAGCTACTCTGTAAGA	0.343												
ITPR1	3708	broad.mit.edu	37	3	4747965	4747965	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:4747965G>A	uc003bqa.2	+	37	5093	c.4745G>A	c.(4744-4746)CGC>CAC	p.R1582H	ITPR1_uc010hca.1_Missense_Mutation_p.R1567H|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Missense_Mutation_p.R513H	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	1591	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)		CTCTCAGCCCGCAATGCCGCA	0.527												
GRM7	2917	broad.mit.edu	37	3	6903381	6903381	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:6903381C>T	uc003bqm.2	+	1	580	c.306C>T	c.(304-306)GGC>GGT	p.G102G	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.G102G|GRM7_uc003bql.2_Silent_p.G102G	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	102	Extracellular (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	TGACGCTGGGCGCGCGGATCC	0.587												
GRM7	2917	broad.mit.edu	37	3	7620324	7620324	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:7620324G>A	uc003bqm.2	+	8	2005	c.1731G>A	c.(1729-1731)CAG>CAA	p.Q577Q	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.Q577Q|GRM7_uc003bql.2_Silent_p.Q577Q|GRM7_uc003bqn.1_Silent_p.Q160Q|GRM7_uc010hch.1_Silent_p.Q88Q	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	577	Extracellular (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	CCGGATGCCAGGATATTCCCA	0.522												
OXTR	5021	broad.mit.edu	37	3	8809146	8809146	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:8809146G>A	uc003brc.2	-	3	1350	c.728C>T	c.(727-729)GCG>GTG	p.A243V		NM_000916	NP_000907	P30559	OXYR_HUMAN	oxytocin receptor	243	Cytoplasmic (Potential).				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity				0				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	GCCCTCTGGCGCCTCGGCCGC	0.672												
RAF1	5894	broad.mit.edu	37	3	12626102	12626102	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:12626102C>T	uc003bxf.3	-	17	2273	c.1858G>A	c.(1858-1860)GCT>ACT	p.A620T	RAF1_uc011aut.1_Missense_Mutation_p.A405T|RAF1_uc011auu.1_Missense_Mutation_p.A538T	NM_002880	NP_002871	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog	620					activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|SRGAP3/RAF1(4)	central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14					Sorafenib(DB00398)	GGCTCGGAAGCGCTCCGGTTG	0.527			T	SRGAP3	pilocytic astrocytoma				Noonan_syndrome			
IQSEC1	9922	broad.mit.edu	37	3	12977365	12977365	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:12977365C>T	uc003bxt.2	-	3	1202	c.1193G>A	c.(1192-1194)CGG>CAG	p.R398Q	IQSEC1_uc003bxu.3_Missense_Mutation_p.R276Q|IQSEC1_uc011auw.1_Missense_Mutation_p.R384Q	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	398					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1						GAGTGACCCCCGCTCCGAGCG	0.687												
IQSEC1	9922	broad.mit.edu	37	3	12977560	12977560	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:12977560C>T	uc003bxt.2	-	3	1007	c.998G>A	c.(997-999)CGG>CAG	p.R333Q	IQSEC1_uc003bxu.3_Missense_Mutation_p.R211Q|IQSEC1_uc011auw.1_Missense_Mutation_p.R319Q	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	333					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1						AGCCCGTAGCCGCAGGTCCGA	0.682												
IQSEC1	9922	broad.mit.edu	37	3	12978120	12978120	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:12978120G>A	uc003bxt.2	-	3	447	c.438C>T	c.(436-438)CGC>CGT	p.R146R	IQSEC1_uc003bxu.3_Silent_p.R24R|IQSEC1_uc011auw.1_Silent_p.R132R	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	146	IQ.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1						TCTGGTACTGGCGAAACGCCG	0.582												
GALNTL2	117248	broad.mit.edu	37	3	16261500	16261500	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:16261500C>T	uc003car.3	+	8	2083	c.1608C>T	c.(1606-1608)TGC>TGT	p.C536C	GALNTL2_uc003caq.3_Silent_p.C269C|GALNTL2_uc003cas.3_Silent_p.C66C	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	536	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1						TGGCTCCTTGCAGTGACAGCC	0.547												
KCNH8	131096	broad.mit.edu	37	3	19575103	19575103	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:19575103C>G	uc003cbk.1	+	16	3031	c.2836C>G	c.(2836-2838)CAA>GAA	p.Q946E	KCNH8_uc010hex.1_Missense_Mutation_p.Q407E	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	946	Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						TGCTTATACCCAAGCACAACT	0.542												
KCNH8	131096	broad.mit.edu	37	3	19575113	19575113	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:19575113T>G	uc003cbk.1	+	16	3041	c.2846T>G	c.(2845-2847)CTT>CGT	p.L949R	KCNH8_uc010hex.1_Missense_Mutation_p.L410R	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	949	Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						CAAGCACAACTTTGTAGCAGT	0.542												
VILL	50853	broad.mit.edu	37	3	38035424	38035424	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:38035424C>T	uc003chj.2	+	3	382	c.96C>T	c.(94-96)TAC>TAT	p.Y32Y	VILL_uc003chk.1_Silent_p.Y32Y|VILL_uc003chl.2_Silent_p.Y32Y|VILL_uc010hgu.2_5'Flank	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	32	Gelsolin-like 1.				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGGGGGCTTACGGGAACTTTT	0.602												
ACAA1	30	broad.mit.edu	37	3	38173437	38173437	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:38173437T>C	uc003cht.2	-	4	590	c.383A>G	c.(382-384)CAG>CGG	p.Q128R	ACAA1_uc003chu.2_Missense_Mutation_p.Q128R|ACAA1_uc010hgy.2_Intron|ACAA1_uc010hgz.2_Missense_Mutation_p.Q128R|ACAA1_uc003chv.2_5'UTR	NM_001607	NP_001598	P09110	THIK_HUMAN	acetyl-Coenzyme A acyltransferase 1 isoform a	128					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		GGCCACTGCCTGTAGCCCCGA	0.547											OREG0015477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MYD88	4615	broad.mit.edu	37	3	38181390	38181390	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:38181390C>G	uc003chx.2	+	2	587	c.403C>G	c.(403-405)CAG>GAG	p.Q135E	ACAA1_uc003cht.2_5'Flank|ACAA1_uc003chu.2_5'Flank|ACAA1_uc010hgy.2_5'Flank|ACAA1_uc010hgz.2_5'Flank|ACAA1_uc003chv.2_5'Flank|MYD88_uc011ayh.1_Missense_Mutation_p.Q135E|MYD88_uc011ayi.1_Missense_Mutation_p.Q135E|MYD88_uc011ayj.1_Missense_Mutation_p.Q135E|MYD88_uc011ayk.1_Intron|MYD88_uc011ayl.1_Intron	NM_002468	NP_002459	Q99836	MYD88_HUMAN	myeloid differentiation primary response gene	122	Intermediate domain (By similarity).				3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(93)|breast(1)	94				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GAAGCAGCAGCAGGAGGAGGC	0.572			Mis 		ABC-DLBCL							
SCN10A	6336	broad.mit.edu	37	3	38739984	38739984	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:38739984C>T	uc003ciq.2	-	27	4727	c.4727G>A	c.(4726-4728)CGC>CAC	p.R1576H		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1576	IV.|Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCGGGCCAGGCGGATGACTCT	0.493												
XIRP1	165904	broad.mit.edu	37	3	39230627	39230627	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:39230627C>T	uc003cjk.1	-	2	531	c.310G>A	c.(310-312)GAT>AAT	p.D104N	XIRP1_uc003cji.2_Missense_Mutation_p.D104N|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	104	Xin 1.						actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCAATGGCATCCAGTCTCCAG	0.602												
ZNF620	253639	broad.mit.edu	37	3	40557736	40557736	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:40557736T>A	uc003ckk.2	+	5	800	c.651T>A	c.(649-651)TGT>TGA	p.C217*	ZNF620_uc003ckl.2_Nonsense_Mutation_p.C103*	NM_175888	NP_787084	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	217	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		ATGAGAAATGTCACACTGGTG	0.363												
ZBTB47	92999	broad.mit.edu	37	3	42701038	42701038	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:42701038G>A	uc003clu.1	+	1	165	c.63G>A	c.(61-63)GGG>GGA	p.G21G		NM_145166	NP_660149	Q9UFB7	ZBT47_HUMAN	zinc finger protein 651	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.216)		AAGAAGCTGGGCGGCGGGGTG	0.716												
SNRK	54861	broad.mit.edu	37	3	43389492	43389492	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:43389492G>A	uc003cms.3	+	7	2073	c.1741G>A	c.(1741-1743)GGG>AGG	p.G581R	SNRK_uc003cmt.3_Missense_Mutation_p.G581R|SNRK_uc010hik.2_Missense_Mutation_p.G581R|SNRK_uc011azr.1_Missense_Mutation_p.G375R	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	SNF related kinase	581					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(3)|stomach(1)|breast(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GGGGGATGGCGGGGGCCAGAG	0.662												
KIF15	56992	broad.mit.edu	37	3	44893381	44893381	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:44893381G>T	uc003cnx.3	+	33	4058	c.3909G>T	c.(3907-3909)CAG>CAT	p.Q1303H	KIF15_uc010hiq.2_Missense_Mutation_p.Q1206H|KIF15_uc010hir.2_Missense_Mutation_p.Q351H	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	1303	Potential.				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)		AAGCATTCCAGGAAAAAGAAC	0.398												
LIMD1	8994	broad.mit.edu	37	3	45637055	45637055	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:45637055T>C	uc003coq.2	+	1	733	c.684T>C	c.(682-684)AAT>AAC	p.N228N		NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	228					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		ATCCCCTAAATCACCGACAGC	0.637												
CCR5	1234	broad.mit.edu	37	3	46415362	46415362	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:46415362C>T	uc003cpo.3	+	3	1091	c.969C>T	c.(967-969)TGC>TGT	p.C323C	CCR5_uc010hjd.2_Silent_p.C323C	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5	323	Cytoplasmic (Potential).			C->A: Small reduction in palmitoylation. Cell surface expression reduced by 50%. Greatly reduced palmitoylation. Cell surface expression greatly reduced; when associated with A-321 or A-324. No palmitoylation. Cell surface expression greatly reduced. HIV entry reduced by 50%; when associated with A-321 and A- 324.	cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	TCTGCAAATGCTGTTCTATTT	0.498												
PRSS50	29122	broad.mit.edu	37	3	46754421	46754421	+	Silent	SNP	C	C	T	rs138214038	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:46754421C>T	uc003cqe.1	-	5	950	c.891G>A	c.(889-891)GCG>GCA	p.A297A	PRSS50_uc003cqf.1_Silent_p.A211A	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN	testes-specific protease 50 precursor	297	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity				0						GGGTGTCCTCCGCACACATCA	0.488												
PRSS42	339906	broad.mit.edu	37	3	46871956	46871956	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:46871956C>T	uc011bap.1	-	5	820	c.820G>A	c.(820-822)GAA>AAA	p.E274K	PRSS42_uc003cqj.2_Silent_p.*101*	NM_182702	NP_874361	Q7Z5A4	PRS42_HUMAN	testis serine protease 2 precursor	274	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			pancreas(1)	1						TCATTATATTCACAGGCCAAG	0.473												
MYL3	4634	broad.mit.edu	37	3	46901099	46901099	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:46901099G>T	uc003cql.1	-	4	440	c.347C>A	c.(346-348)CCT>CAT	p.P116H		NM_000258	NP_000249	P08590	MYL3_HUMAN	slow skeletal ventricular myosin alkali light	116					cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle				0				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		CTGGAGCATAGGCAGGAAAGT	0.552												
C3orf75	54859	broad.mit.edu	37	3	47537654	47537654	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:47537654C>T	uc003crk.2	-	7	825	c.706G>A	c.(706-708)GCA>ACA	p.A236T	C3orf75_uc003crj.2_Missense_Mutation_p.A163T|C3orf75_uc011bba.1_Missense_Mutation_p.A187T	NM_001031703	NP_001026873	Q0PNE2	CC075_HUMAN	transmembrane protein 103	236											0						CGGTGGACTGCGGGCTGCGAT	0.537												
CELSR3	1951	broad.mit.edu	37	3	48699463	48699463	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:48699463G>A	uc003cul.2	-	1	886	c.605C>T	c.(604-606)GCG>GTG	p.A202V	CELSR3_uc003cuf.1_Missense_Mutation_p.A272V	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	202	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACAGCAGCGCGCGGTGCCCAC	0.637												
AMT	275	broad.mit.edu	37	3	49459831	49459831	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:49459831A>G	uc003cww.2	-	1	182	c.53T>C	c.(52-54)TTC>TCC	p.F18S	AMT_uc011bcn.1_5'UTR|AMT_uc003cwx.2_Missense_Mutation_p.F18S|AMT_uc011bco.1_Missense_Mutation_p.F18S|AMT_uc003cwy.2_5'UTR|AMT_uc011bcp.1_5'UTR|AMT_uc011bcq.1_Missense_Mutation_p.F18S|NICN1_uc003cwz.1_3'UTR	NM_000481	NP_000472	P48728	GCST_HUMAN	aminomethyltransferase isoform 1 precursor	18					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GGCCGGGGGGAATGCCTGCAG	0.657												
MON1A	84315	broad.mit.edu	37	3	49947673	49947673	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:49947673G>A	uc003cxz.2	-	4	1675	c.1549C>T	c.(1549-1551)CGC>TGC	p.R517C	MON1A_uc003cya.2_Missense_Mutation_p.R355C|MON1A_uc003cyb.2_Missense_Mutation_p.R355C	NM_032355	NP_115731	Q86VX9	MON1A_HUMAN	MON1 homolog A isoform a	420							protein binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TGGGCTCCGCGCTTGCGAAGG	0.617												
SPCS1	28972	broad.mit.edu	37	3	52740186	52740186	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:52740186T>G	uc011bei.1	+	1	330	c.125T>G	c.(124-126)CTC>CGC	p.L42R	GLT8D1_uc003dfi.3_5'Flank|GLT8D1_uc003dfj.2_5'Flank|GLT8D1_uc003dfk.2_5'Flank|GLT8D1_uc003dfl.2_5'Flank|GLT8D1_uc003dfm.2_5'Flank|GLT8D1_uc003dfn.2_5'Flank|GLT8D1_uc003dfo.1_5'Flank|GLT8D1_uc010hmm.1_5'Flank	NM_014041	NP_054760	Q9Y6A9	SPCS1_HUMAN	signal peptidase complex subunit 1 homolog	42	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to endoplasmic reticulum membrane|microsome|signal peptidase complex	peptidase activity				0				BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)		ACCTTACCCCTCACGGTCCTT	0.692												
SPCS1	28972	broad.mit.edu	37	3	52741730	52741730	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:52741730C>T	uc011bei.1	+	4	617	c.412C>T	c.(412-414)CGC>TGC	p.R138C	GLT8D1_uc003dfj.2_5'Flank|GLT8D1_uc003dfk.2_5'Flank|GLT8D1_uc003dfl.2_5'Flank|GLT8D1_uc003dfm.2_5'Flank|GLT8D1_uc003dfn.2_5'Flank|GLT8D1_uc003dfo.1_5'Flank|GLT8D1_uc010hmm.1_5'Flank	NM_014041	NP_054760	Q9Y6A9	SPCS1_HUMAN	signal peptidase complex subunit 1 homolog	138	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to endoplasmic reticulum membrane|microsome|signal peptidase complex	peptidase activity				0				BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)		GCCCATCTATCGCCGGCATCC	0.403												
SFMBT1	51460	broad.mit.edu	37	3	52962274	52962274	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:52962274G>A	uc003dgf.2	-	10	1550	c.981C>T	c.(979-981)GCC>GCT	p.A327A	SFMBT1_uc010hmr.2_Silent_p.A274A|SFMBT1_uc003dgg.2_Silent_p.A327A|SFMBT1_uc003dgh.2_Silent_p.A327A	NM_001005159	NP_001005159	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	327	MBT 3.				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)		CAGGACTGTCGGCGTGGCACA	0.502												
ERC2	26059	broad.mit.edu	37	3	55922464	55922464	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:55922464G>A	uc003dhr.1	-	14	2773	c.2517C>T	c.(2515-2517)AAC>AAT	p.N839N	ERC2_uc003dhq.1_RNA|ERC2_uc003dht.1_Silent_p.N318N	NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	839	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CAATCCGGAGGTTGGCCAAGT	0.542												
C3orf67	200844	broad.mit.edu	37	3	58817526	58817526	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:58817526T>G	uc003dkt.1	-	13	1717	c.1308A>C	c.(1306-1308)GAA>GAC	p.E436D	C3orf67_uc003dkr.1_RNA|C3orf67_uc003dks.1_Missense_Mutation_p.E377D|uc003dku.1_Intron	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	hypothetical protein LOC200844	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment											0		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		CATCCTCCAGTTCTTCATTTT	0.512												
FAM19A4	151647	broad.mit.edu	37	3	68802150	68802150	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:68802150T>G	uc003dnh.1	-	4	593	c.150A>C	c.(148-150)CAA>CAC	p.Q50H	FAM19A4_uc003dni.1_Missense_Mutation_p.Q50H	NM_182522	NP_872328	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine	50						extracellular region				skin(2)	2		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		CACAGGTCCCTTGCTTGATTT	0.502												
LMOD3	56203	broad.mit.edu	37	3	69168250	69168250	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:69168250A>G	uc003dns.2	-	2	1465	c.1256T>C	c.(1255-1257)ATG>ACG	p.M419T	LMOD3_uc003dnt.2_Missense_Mutation_p.M419T	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	419	Potential.					cytoplasm|cytoskeleton	tropomyosin binding			ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		ATTCTCTAACATGGCTATCAG	0.517												
GPR27	2850	broad.mit.edu	37	3	71804103	71804103	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:71804103C>T	uc011bge.1	+	1	903	c.903C>T	c.(901-903)GTC>GTT	p.V301V	EIF4E3_uc003dox.2_5'Flank|EIF4E3_uc011bgd.1_5'Flank|EIF4E3_uc010hoc.2_5'Flank	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	301	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		GGCCCTACGTCGTGGCCAGCT	0.642												
RYBP	23429	broad.mit.edu	37	3	72428231	72428231	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:72428231T>C	uc003dpe.2	-	3	481	c.364A>G	c.(364-366)AAT>GAT	p.N122D		NM_012234	NP_036366	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	132					apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding				0		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		GTTGTAGCATTTGCAGACTGT	0.358												
ROBO2	6092	broad.mit.edu	37	3	77147246	77147246	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:77147246C>T	uc003dpy.3	+	2	786	c.143C>T	c.(142-144)ACG>ATG	p.T48M	ROBO2_uc003dpz.2_Missense_Mutation_p.T48M|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.T48M	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	48	Ig-like C2-type 1.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.T48K(1)		lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GGCGAGCCCACGACTCTGAAC	0.592												
MINA	84864	broad.mit.edu	37	3	97686125	97686125	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:97686125A>G	uc003drz.1	-	2	819	c.313T>C	c.(313-315)TGT>CGT	p.C105R	MINA_uc003dsa.1_Missense_Mutation_p.C105R|MINA_uc003dsb.1_Missense_Mutation_p.C105R|MINA_uc003dsc.1_Missense_Mutation_p.C105R|MINA_uc010hpa.1_RNA|MINA_uc010hpb.1_Intron	NM_001042533	NP_001035998	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen isoform a	105					ribosome biogenesis	cytoplasm|nucleolus				ovary(1)	1						CCATTGACACACCGGCAGACA	0.443												
OR5H1	26341	broad.mit.edu	37	3	97852335	97852335	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:97852335C>T	uc011bgt.1	+	1	794	c.794C>T	c.(793-795)CCG>CTG	p.P265L		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H,	265	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2						CCTGCATCTCCGCAAGCAGAT	0.433												
FILIP1L	11259	broad.mit.edu	37	3	99569707	99569707	+	Silent	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:99569707A>G	uc003dtm.2	-	5	1276	c.813T>C	c.(811-813)CAT>CAC	p.H271H	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Silent_p.H271H|FILIP1L_uc010hpf.2_Intron|FILIP1L_uc010hpg.2_Silent_p.H31H|FILIP1L_uc003dtn.2_Silent_p.H31H|FILIP1L_uc003dtp.1_Silent_p.H31H	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	271	Potential.					cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1						CTAGTTTGGTATGTGTTTCCT	0.483												
BBX	56987	broad.mit.edu	37	3	107491837	107491837	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:107491837C>T	uc010hpr.2	+	11	1596	c.1269C>T	c.(1267-1269)CCC>CCT	p.P423P	BBX_uc003dwk.3_Silent_p.P423P|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Silent_p.P444P|BBX_uc003dwm.3_Silent_p.P423P|BBX_uc003dwo.3_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GTGATGTTCCCAGTAGAAAGG	0.338												
MYH15	22989	broad.mit.edu	37	3	108124288	108124288	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:108124288G>A	uc003dxa.1	-	34	4750	c.4693C>T	c.(4693-4695)CGT>TGT	p.R1565C		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	1565	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						CTTTCATTACGTTCCAGGGCT	0.333												
MYH15	22989	broad.mit.edu	37	3	108129761	108129761	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:108129761T>A	uc003dxa.1	-	32	4281	c.4224A>T	c.(4222-4224)AGA>AGT	p.R1408S		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	1408	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						CCTCCTGCAATCTAATTGCCA	0.552												
SLC35A5	55032	broad.mit.edu	37	3	112282265	112282265	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:112282265C>A	uc003dze.2	+	2	260	c.15C>A	c.(13-15)TGC>TGA	p.C5*	ATG3_uc003dzd.2_5'Flank|ATG3_uc003dzc.2_5'Flank|ATG3_uc010hqe.2_5'Flank	NM_017945	NP_060415	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	5						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1						AAAAACAGTGCTGTAGTCATC	0.383												
LSAMP	4045	broad.mit.edu	37	3	115561349	115561349	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:115561349C>T	uc003ebt.2	-	5	1226	c.726G>A	c.(724-726)TCG>TCA	p.S242S	LSAMP_uc011bis.1_Silent_p.S242S	NM_002338	NP_002329	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	242	Ig-like C2-type 3.				cell adhesion|nervous system development	anchored to membrane|plasma membrane					0		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CAGGCACTGCCGAGGCCTCAC	0.547												
B4GALT4	8702	broad.mit.edu	37	3	118943093	118943093	+	Splice_Site	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:118943093C>A	uc003ecg.2	-	5	1128	c.487_splice	c.e5-1	p.A163_splice	B4GALT4_uc003ece.1_Splice_Site_p.A163_splice|B4GALT4_uc003ecf.2_Splice_Site|B4GALT4_uc003ech.2_Splice_Site_p.A163_splice|B4GALT4_uc003eci.2_Splice_Site_p.A163_splice|B4GALT4_uc011biy.1_Splice_Site	NM_212543	NP_997708	O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-						membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity				0				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	TACCTTCAGCCTAGAGATATG	0.358												
ARHGAP31	57514	broad.mit.edu	37	3	119133473	119133473	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:119133473G>A	uc003ecj.3	+	12	3229	c.2697G>A	c.(2695-2697)CAG>CAA	p.Q899Q		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	899					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						ACATTGCCCAGCATGGCCTGG	0.572												
C3orf15	89876	broad.mit.edu	37	3	119466108	119466108	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:119466108C>T	uc003ede.3	+	15	2126	c.2049C>T	c.(2047-2049)AGC>AGT	p.S683S	C3orf15_uc010hqz.2_Silent_p.S621S|C3orf15_uc011bjd.1_Silent_p.S557S|C3orf15_uc011bje.1_Silent_p.S663S|C3orf15_uc003edg.3_5'Flank	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	AAT1-alpha	519	Potential.					mitochondrion	protein binding	p.S683N(1)		ovary(2)|pancreas(1)	3				GBM - Glioblastoma multiforme(114;0.186)		AAATGGAAAGCCGGTGTGTAT	0.388												
GPR156	165829	broad.mit.edu	37	3	119887170	119887170	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:119887170C>A	uc011bjf.1	-	9	1154	c.1154G>T	c.(1153-1155)AGG>ATG	p.R385M	GPR156_uc011bjg.1_Missense_Mutation_p.R381M	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	385	Cytoplasmic (Potential).|Potential.					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.19)		TGACATCAGCCTCACAATCTT	0.517												
HSPBAP1	79663	broad.mit.edu	37	3	122471515	122471515	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:122471515A>G	uc003efu.1	-	6	871	c.748T>C	c.(748-750)TTT>CTT	p.F250L		NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN	Hspb associated protein 1	250	JmjC.					cytoplasm				ovary(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.0531)		CTGGGAACAAAGAGAACCTGA	0.383												
SLC12A8	84561	broad.mit.edu	37	3	124811006	124811006	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:124811006A>G	uc003ehv.3	-	11	1853	c.1742T>C	c.(1741-1743)GTC>GCC	p.V581A	SLC12A8_uc003ehw.3_Missense_Mutation_p.V610A|SLC12A8_uc003eht.3_Missense_Mutation_p.V382A|SLC12A8_uc003ehu.3_Missense_Mutation_p.V334A|SLC12A8_uc010hry.2_Intron	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	581					potassium ion transport	integral to membrane	symporter activity				0						TCTTCTCCAGACATCTTGTTC	0.428												
OSBPL11	114885	broad.mit.edu	37	3	125266321	125266321	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:125266321G>A	uc003eic.2	-	10	2507	c.1770C>T	c.(1768-1770)AAC>AAT	p.N590N		NM_022776	NP_073613	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	590					lipid transport		lipid binding			ovary(3)|breast(1)|kidney(1)	5						TTTTTGCACAGTTGACACTGA	0.418												
ROPN1B	152015	broad.mit.edu	37	3	125691012	125691012	+	Missense_Mutation	SNP	G	G	A	rs143434891		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:125691012G>A	uc003eih.2	+	2	343	c.115G>A	c.(115-117)GAT>AAT	p.D39N	ROPN1B_uc010hsb.2_Missense_Mutation_p.D39N|ROPN1B_uc011bkg.1_Missense_Mutation_p.D39N	NM_001012337	NP_001012337	Q9BZX4	ROP1B_HUMAN	ropporin, rhophilin associated protein 1B	39	RIIa.				acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity				0				GBM - Glioblastoma multiforme(114;0.151)		GTGGGGGGCCGAGTACGTGCT	0.627												
PLXNA1	5361	broad.mit.edu	37	3	126707946	126707946	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:126707946G>A	uc003ejg.2	+	1	445	c.441G>A	c.(439-441)GCG>GCA	p.A147A		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	170	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		GCAGCATGGCGGGCGTGCTCA	0.637												
PLXNA1	5361	broad.mit.edu	37	3	126735448	126735448	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:126735448C>A	uc003ejg.2	+	15	3038	c.3034C>A	c.(3034-3036)CTC>ATC	p.L1012I		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1035	IPT/TIG 2.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CCGCGCCCAGCTCACCAACCC	0.632												
RHO	6010	broad.mit.edu	37	3	129251458	129251458	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:129251458C>T	uc003emt.2	+	4	874	c.779C>T	c.(778-780)GCT>GTT	p.A260V		NM_000539	NP_000530	P08100	OPSD_HUMAN	rhodopsin	260	Helical; Name=6; (Potential).				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding				0		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	ATGGTCATCGCTTTCCTGATC	0.602												
ESYT3	83850	broad.mit.edu	37	3	138193142	138193142	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:138193142C>T	uc003esk.2	+	20	2642	c.2416C>T	c.(2416-2418)CGT>TGT	p.R806C		NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	family with sequence similarity 62 (C2 domain	806	C2 3.					integral to membrane|plasma membrane					0						GTGGGCATGTCGTAAGAAGAC	0.468												
NMNAT3	349565	broad.mit.edu	37	3	139279984	139279984	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:139279984C>A	uc003etj.2	-	4	667	c.627G>T	c.(625-627)TTG>TTT	p.L209F	NMNAT3_uc003etk.2_Missense_Mutation_p.L172F|NMNAT3_uc003etl.2_RNA|NMNAT3_uc010hul.2_Missense_Mutation_p.L120F	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	nicotinamide mononucleotide adenylyltransferase	209					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity				0						GCCCTTGGCCCAAGGCTCGCC	0.537												
TRIM42	287015	broad.mit.edu	37	3	140409957	140409957	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:140409957A>C	uc003eto.1	+	4	2199	c.2008A>C	c.(2008-2010)ACC>CCC	p.T670P		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	tripartite motif-containing 42	670	Fibronectin type-III.					intracellular	zinc ion binding			lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						GCACAACCTGACCCCCAACAC	0.428												
ZBTB38	253461	broad.mit.edu	37	3	141162696	141162696	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:141162696C>A	uc003etw.2	+	8	2448	c.1466C>A	c.(1465-1467)CCT>CAT	p.P489H	ZBTB38_uc010hun.2_Missense_Mutation_p.P486H|ZBTB38_uc010huo.2_Missense_Mutation_p.P489H|ZBTB38_uc003ety.2_Missense_Mutation_p.P489H|ZBTB38_uc010hup.2_Missense_Mutation_p.P490H	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	489	C2H2-type 4.				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						AGAACATATCCTTGCCATTAC	0.433												
PCOLCE2	26577	broad.mit.edu	37	3	142539750	142539750	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:142539750C>T	uc003evd.2	-	8	1283	c.1087G>A	c.(1087-1089)GTC>ATC	p.V363I		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	363	NTR.					extracellular region	collagen binding|heparin binding|peptidase activator activity			ovary(2)|skin(1)	3						TGCTTGCAGACGACAGTCAGC	0.522												
SR140	23350	broad.mit.edu	37	3	142773855	142773855	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:142773855C>T	uc003evh.1	+	27	2944	c.2845C>T	c.(2845-2847)CCA>TCA	p.P949S	SR140_uc003evi.1_Missense_Mutation_p.P540S|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Missense_Mutation_p.P948S	NM_001080415	NP_001073884	O15042	SR140_HUMAN	U2-associated SR140 protein	949	Arg/Ser-rich.				RNA processing	nucleus	nucleotide binding|RNA binding				0						ATCCCCATCACCAAAATCGGA	0.483												
C3orf58	205428	broad.mit.edu	37	3	143691683	143691683	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:143691683G>A	uc003evo.2	+	1	1044	c.509G>A	c.(508-510)TGC>TAC	p.C170Y	C3orf58_uc011bnl.1_5'Flank	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN	hypothetical protein LOC205428 isoform a	170						COPI vesicle coat|extracellular region				ovary(1)	1						CTGGTGCACTGCCCCTCGCAG	0.701												
ZIC1	7545	broad.mit.edu	37	3	147130423	147130423	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:147130423C>T	uc003ewe.2	+	2	1820	c.1101C>T	c.(1099-1101)TGC>TGT	p.C367C		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	367	C2H2-type 5.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GCAAGATGTGCGACAAGTCCT	0.587												
AGTR1	185	broad.mit.edu	37	3	148459562	148459562	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:148459562T>C	uc003ewg.2	+	4	1186	c.740T>C	c.(739-741)CTT>CCT	p.L247P	AGTR1_uc003ewh.2_Missense_Mutation_p.L247P|AGTR1_uc003ewi.2_Missense_Mutation_p.L247P|AGTR1_uc003ewj.2_Missense_Mutation_p.L247P|AGTR1_uc003ewk.2_Missense_Mutation_p.L247P	NM_031850	NP_114038	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	247	Helical; Name=6; (Potential).				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity				0			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GCAATTGTGCTTTTCTTTTTC	0.333												
TSC22D2	9819	broad.mit.edu	37	3	150128715	150128715	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:150128715T>C	uc003exv.2	+	1	1928	c.1578T>C	c.(1576-1578)GTT>GTC	p.V526V	TSC22D2_uc003exw.2_RNA|TSC22D2_uc003exx.2_Silent_p.V526V	NM_014779	NP_055594	O75157	T22D2_HUMAN	TSC22 domain family, member 2	526							sequence-specific DNA binding transcription factor activity			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CCACTTCTGTTACTATGCCAA	0.617												
TSC22D2	9819	broad.mit.edu	37	3	150176387	150176387	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:150176387G>A	uc003exv.2	+	4	2657	c.2307G>A	c.(2305-2307)ACG>ACA	p.T769T	TSC22D2_uc003exw.2_RNA|TSC22D2_uc003exx.2_Silent_p.T745T	NM_014779	NP_055594	O75157	T22D2_HUMAN	TSC22 domain family, member 2	769							sequence-specific DNA binding transcription factor activity			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CGCAGCCAACGCAACCTCCAC	0.468												
MED12L	116931	broad.mit.edu	37	3	151105776	151105776	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:151105776G>A	uc003eyp.2	+	35	5200	c.5162G>A	c.(5161-5163)CGC>CAC	p.R1721H	MED12L_uc011bnz.1_Missense_Mutation_p.R1581H|MED12L_uc003eyy.1_Missense_Mutation_p.R884H	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1721					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCCAAGCCCCGCAGTTACTAC	0.582												
MBNL1	4154	broad.mit.edu	37	3	152163087	152163087	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:152163087A>G	uc003ezm.2	+	4	1355	c.566A>G	c.(565-567)CAA>CGA	p.Q189R	MBNL1_uc003ezh.2_Missense_Mutation_p.Q189R|MBNL1_uc003ezi.2_Missense_Mutation_p.Q189R|MBNL1_uc003ezj.2_Missense_Mutation_p.Q132R|MBNL1_uc003ezl.2_Missense_Mutation_p.Q189R|MBNL1_uc003ezp.2_Missense_Mutation_p.Q189R|MBNL1_uc003ezn.2_Missense_Mutation_p.Q121R|MBNL1_uc003ezo.2_Missense_Mutation_p.Q121R|MBNL1_uc010hvp.2_Missense_Mutation_p.Q97R	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	muscleblind-like 1 isoform c	189	C3H1-type 3.				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)			CGAGAGTACCAACGTGGCAAT	0.413												
GMPS	8833	broad.mit.edu	37	3	155652816	155652816	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:155652816T>C	uc003faq.2	+	14	2123	c.1788T>C	c.(1786-1788)CAT>CAC	p.H596H	GMPS_uc011bom.1_Silent_p.H497H	NM_003875	NP_003866	P49915	GUAA_HUMAN	guanine monophosphate synthetase	596					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			ovary(2)|lung(1)	3			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTGAGGCCCATAACATTCTCA	0.428			T	MLL	AML							
KCNAB1	7881	broad.mit.edu	37	3	156232930	156232930	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:156232930G>A	uc003far.2	+	10	850	c.786G>A	c.(784-786)CCG>CCA	p.P262P	KCNAB1_uc011bon.1_Silent_p.P233P|KCNAB1_uc003fas.2_Silent_p.P251P|KCNAB1_uc003fat.2_Silent_p.P244P|KCNAB1_uc010hvt.1_Silent_p.P215P|KCNAB1_uc011boo.1_Silent_p.P138P	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related	262						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			ovary(3)|skin(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TGATCCCACCGGTCTGTGAAC	0.418												
VEPH1	79674	broad.mit.edu	37	3	157081510	157081510	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:157081510C>T	uc003fbj.1	-	9	1695	c.1378G>A	c.(1378-1380)GTG>ATG	p.V460M	VEPH1_uc003fbk.1_Missense_Mutation_p.V460M|VEPH1_uc010hvu.1_Missense_Mutation_p.V460M	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	460						plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TCTGAACCCACACCCTTTGTG	0.443												
SLITRK3	22865	broad.mit.edu	37	3	164905717	164905717	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:164905717C>T	uc003fej.3	-	2	3346	c.2902G>A	c.(2902-2904)GAA>AAA	p.E968K	SLITRK3_uc003fek.2_Missense_Mutation_p.E968K	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	968	Cytoplasmic (Potential).					integral to membrane		p.E968*(1)		ovary(6)|skin(3)|pancreas(1)	10						TCCAGGACTTCGAGGTAATCC	0.388										HNSCC(40;0.11)		
ARPM1	84517	broad.mit.edu	37	3	169486125	169486125	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:169486125G>A	uc003ffs.1	-	2	589	c.214C>T	c.(214-216)CGT>TGT	p.R72C		NM_032487	NP_115876	Q9BYD9	ARPM1_HUMAN	actin related protein M1	72						cytoplasm|cytoskeleton					0	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;5.01e-59)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			ATGAGACCACGCTCCACTGGG	0.418												
SEC62	7095	broad.mit.edu	37	3	169710494	169710494	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:169710494G>A	uc003fgg.2	+	8	874	c.843G>A	c.(841-843)CTG>CTA	p.L281L	SEC62_uc003fgh.2_Silent_p.L281L	NM_003262	NP_003253	Q99442	SEC62_HUMAN	translocation protein 1	281	Cytoplasmic (Potential).				cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			ovary(1)	1						TCAGGCCTCTGTACACACATG	0.428												
SEC62	7095	broad.mit.edu	37	3	169710750	169710750	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:169710750A>G	uc003fgg.2	+	8	1130	c.1099A>G	c.(1099-1101)ACA>GCA	p.T367A	SEC62_uc003fgh.2_Missense_Mutation_p.T367A	NM_003262	NP_003253	Q99442	SEC62_HUMAN	translocation protein 1	367	Cytoplasmic (Potential).				cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			ovary(1)	1						TGAAATGATAACAAAAGAGGA	0.438												
ECT2	1894	broad.mit.edu	37	3	172525679	172525679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:172525679C>T	uc003fii.2	+	21	2410	c.2272C>T	c.(2272-2274)CGA>TGA	p.R758*	ECT2_uc010hwv.1_Nonsense_Mutation_p.R789*|ECT2_uc003fih.2_Nonsense_Mutation_p.R757*|ECT2_uc003fij.1_Nonsense_Mutation_p.R758*|ECT2_uc003fik.1_Nonsense_Mutation_p.R758*|ECT2_uc003fil.1_Nonsense_Mutation_p.R789*|ECT2_uc003fim.1_Nonsense_Mutation_p.R57*	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	758	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|ovary(1)|skin(1)	4	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			GATGCTGTGTCGACATGTAGC	0.388												
EIF2B5	8893	broad.mit.edu	37	3	183858392	183858392	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:183858392C>T	uc003fmp.2	+	7	1394	c.1030C>T	c.(1030-1032)CGA>TGA	p.R344*	EIF2B5_uc003fmq.2_Nonsense_Mutation_p.R65*|EIF2B5_uc003fmr.2_5'Flank	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B,	344					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			ovary(5)	5	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CAACATCTACCGAGGGCCTGA	0.577												
FETUB	26998	broad.mit.edu	37	3	186362568	186362568	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:186362568C>T	uc010hyq.2	+	5	714	c.453C>T	c.(451-453)TGC>TGT	p.C151C	FETUB_uc011brz.1_Silent_p.C3C|FETUB_uc003fqn.2_Silent_p.C151C|FETUB_uc003fqo.2_Silent_p.C46C|FETUB_uc010hyr.2_Silent_p.C114C|FETUB_uc010hys.2_Silent_p.C3C|FETUB_uc003fqp.3_Silent_p.C86C	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	fetuin B precursor	151	Cystatin fetuin-B-type 2.					extracellular space	cysteine-type endopeptidase inhibitor activity			ovary(1)|lung(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		ACATGACGTGCCCTGACTGCC	0.393												
RTP4	64108	broad.mit.edu	37	3	187088874	187088874	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:187088874G>T	uc003frm.2	+	2	516	c.454G>T	c.(454-456)GCC>TCC	p.A152S		NM_022147	NP_071430	Q96DX8	RTP4_HUMAN	28kD interferon responsive protein	152	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding				0	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CCATGACACAGCCAATTGTGA	0.493												
BCL6	604	broad.mit.edu	37	3	187447070	187447070	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:187447070A>G	uc003frp.3	-	5	1580	c.1123T>C	c.(1123-1125)TGG>CGG	p.W375R	BCL6_uc011bsf.1_Missense_Mutation_p.W375R|BCL6_uc010hza.2_Missense_Mutation_p.W273R|BCL6_uc003frq.1_Missense_Mutation_p.W375R	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	B-cell lymphoma 6 protein isoform 1	375					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|lung(2)|central_nervous_system(1)	5	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TATTTCTTCCAGTTGCAGGCT	0.587			T|Mis	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3	NHL|CLL							
TP63	8626	broad.mit.edu	37	3	189608582	189608582	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:189608582T>A	uc003fry.2	+	13	1746	c.1657T>A	c.(1657-1659)TTA>ATA	p.L553I	TP63_uc003frz.2_Intron|TP63_uc010hzc.1_Intron|TP63_uc003fsc.2_Missense_Mutation_p.L459I|TP63_uc003fsd.2_Intron|TP63_uc010hzd.1_Missense_Mutation_p.L374I	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1	553	SAM.		L -> F (in AEC).		anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CTGCAGTTTCTTAGCGAGGTT	0.468									Hay-Wells_syndrome	HNSCC(45;0.13)		
LSG1	55341	broad.mit.edu	37	3	194366918	194366918	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:194366918C>T	uc003fui.2	-	12	1913	c.1598G>A	c.(1597-1599)CGC>CAC	p.R533H		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	large subunit GTPase 1	533					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity				0	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		CAGGATGTAGCGCGCAGATCG	0.453												
KIAA0226	9711	broad.mit.edu	37	3	197408014	197408014	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:197408014G>T	uc003fyc.2	-	16	2599	c.2416C>A	c.(2416-2418)CTC>ATC	p.L806I	KIAA0226_uc003fyd.3_Missense_Mutation_p.L761I|KIAA0226_uc003fye.1_Missense_Mutation_p.L538I	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	806					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		ACTTGATTGAGCAGCTTGACC	0.358												
GAK	2580	broad.mit.edu	37	4	887712	887712	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:887712T>C	uc003gbm.3	-	8	1026	c.827A>G	c.(826-828)TAC>TGC	p.Y276C	GAK_uc003gbn.3_Missense_Mutation_p.Y197C|GAK_uc010ibk.1_Missense_Mutation_p.Y170C|GAK_uc003gbl.3_Missense_Mutation_p.Y140C	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	276	Protein kinase.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		GGGGATCGAGTACTTCCCATT	0.607												
TMEM175	84286	broad.mit.edu	37	4	946218	946218	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:946218A>G	uc003gbq.2	+	7	540	c.442A>G	c.(442-444)ATC>GTC	p.I148V	TMEM175_uc010ibl.1_Missense_Mutation_p.I148V|TMEM175_uc003gbp.1_Missense_Mutation_p.I66V|TMEM175_uc003gbr.2_Missense_Mutation_p.I66V|TMEM175_uc003gbu.2_Missense_Mutation_p.I66V|TMEM175_uc003gbs.2_Missense_Mutation_p.I31V|TMEM175_uc003gbt.2_Missense_Mutation_p.I31V|TMEM175_uc003gbv.2_Missense_Mutation_p.I31V|TMEM175_uc010ibm.2_Missense_Mutation_p.I19V	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	transmembrane protein 175	148	Helical; (Potential).					integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGTGTGTGTGATCGCCATTGG	0.413												
POLN	353497	broad.mit.edu	37	4	2172859	2172859	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:2172859C>T	uc003ger.2	-	10	1424	c.1424G>A	c.(1423-1425)CGG>CAG	p.R475Q	POLN_uc010ich.1_Missense_Mutation_p.R66Q|POLN_uc011bvi.1_Missense_Mutation_p.R475Q	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	DNA-directed DNA polymerase nu	475					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(2)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TATAAGAAACCGTTCTCCTGC	0.333								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
D4S234E	27065	broad.mit.edu	37	4	4389450	4389450	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:4389450G>A	uc011bvz.1	+	5	1375	c.94G>A	c.(94-96)GAT>AAT	p.D32N	D4S234E_uc011bwa.1_Missense_Mutation_p.D32N|D4S234E_uc003ghz.2_Missense_Mutation_p.D32N|D4S234E_uc003gia.2_Missense_Mutation_p.D32N|D4S234E_uc003gib.2_Missense_Mutation_p.D32N	NM_014392	NP_055207	P42857	NSG1_HUMAN	brain neuron cytoplasmic protein 1	32	Cytoplasmic (Potential).				dopamine receptor signaling pathway	Golgi membrane|integral to membrane|nucleus	dopamine receptor binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		GACGCCCCTCGATGTCAATCA	0.632												
MAN2B2	23324	broad.mit.edu	37	4	6596373	6596373	+	Missense_Mutation	SNP	C	C	T	rs148186055		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:6596373C>T	uc003gjf.1	+	7	1007	c.971C>T	c.(970-972)ACG>ATG	p.T324M	MAN2B2_uc003gje.1_Missense_Mutation_p.T324M|MAN2B2_uc011bwf.1_Missense_Mutation_p.T273M	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	324					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						CAGTATGCCACGCTGGGCGAC	0.602												
SH3TC1	54436	broad.mit.edu	37	4	8229061	8229061	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:8229061G>A	uc003gkv.3	+	12	1741	c.1640G>A	c.(1639-1641)CGG>CAG	p.R547Q	SH3TC1_uc003gkw.3_Missense_Mutation_p.R471Q|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	547							binding			large_intestine(2)|pancreas(1)	3						GCACAGGCCCGGGGGGCGGCC	0.697												
CCKAR	886	broad.mit.edu	37	4	26491091	26491091	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:26491091A>G	uc003gse.1	-	2	281	c.128T>C	c.(127-129)GTG>GCG	p.V43A		NM_000730	NP_000721	P32238	CCKAR_HUMAN	cholecystokinin A receptor	43	Helical; Name=1; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			lung(3)|pancreas(1)	4		Breast(46;0.0503)			Ceruletide(DB00403)	GAGAATCTGCACCGCTGGCTG	0.552												
ATP10D	57205	broad.mit.edu	37	4	47559905	47559905	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:47559905C>T	uc003gxk.1	+	12	2213	c.2049C>T	c.(2047-2049)CCC>CCT	p.P683P	ATP10D_uc003gxl.1_Intron	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	683	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						GTGAGAGCCCCCAGTGCTCCA	0.552												
KDR	3791	broad.mit.edu	37	4	55981455	55981455	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:55981455A>C	uc003has.2	-	4	784	c.482T>G	c.(481-483)CTT>CGT	p.L161R	KDR_uc003hat.1_Missense_Mutation_p.L161R|KDR_uc011bzx.1_Missense_Mutation_p.L161R	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	161	Ig-like C2-type 2.|Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TACTGCACAAAGTGACACGTT	0.358			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)		
CLOCK	9575	broad.mit.edu	37	4	56336882	56336882	+	Splice_Site	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:56336882A>G	uc003haz.1	-	9	1364	c.438_splice	c.e9+1	p.P146_splice	CLOCK_uc003hba.1_Splice_Site_p.P146_splice	NM_004898	NP_004889	O15516	CLOCK_HUMAN	clock						circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(2)|ovary(1)	3	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CTTTATACTTACTGGTAAATG	0.333												
TMPRSS11D	9407	broad.mit.edu	37	4	68699069	68699069	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:68699069A>G	uc003hdq.2	-	7	610	c.545T>C	c.(544-546)TTG>TCG	p.L182S	LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc003hdp.2_5'UTR|TMPRSS11D_uc011caj.1_Missense_Mutation_p.L65S	NM_004262	NP_004253	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	182	Extracellular (Potential).				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						CTGCTCAGACAATGTTATTAG	0.512												
AMBN	258	broad.mit.edu	37	4	71467311	71467311	+	Silent	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:71467311A>G	uc003hfl.2	+	6	546	c.471A>G	c.(469-471)GAA>GAG	p.E157E		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	ameloblastin precursor	157					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			ovary(3)|skin(1)	4			Lung(101;0.235)			CCTTGCAGGAAGGAGAACTGC	0.522											OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
IGJ	3512	broad.mit.edu	37	4	71532173	71532173	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:71532173G>A	uc003hfn.3	-	1	176	c.35C>T	c.(34-36)GCG>GTG	p.A12V	IGJ_uc010ihz.2_Missense_Mutation_p.A12V	NM_144646	NP_653247	P01591	IGJ_HUMAN	immunoglobulin J chain	12					immune response	extracellular region	antigen binding				0			Lung(101;0.235)			AATAAAAACCGCCAGGACTCC	0.358												
CCDC158	339965	broad.mit.edu	37	4	77292635	77292635	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:77292635G>A	uc003hkb.3	-	9	1237	c.1084C>T	c.(1084-1086)CGG>TGG	p.R362W		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	362	Potential.									skin(3)|ovary(2)|pancreas(1)	6						CGCTCTGTCCGGGCTTCAGTT	0.388												
SHROOM3	57619	broad.mit.edu	37	4	77692019	77692019	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:77692019G>A	uc011cbx.1	+	10	6543	c.5590G>A	c.(5590-5592)GGC>AGC	p.G1864S	SHROOM3_uc003hkg.2_Missense_Mutation_p.G1642S	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	1864	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			TGTCCTTAGCGGCCTTGGTGA	0.507												
PRDM8	56978	broad.mit.edu	37	4	81124621	81124621	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:81124621C>A	uc010ijo.2	+	8	2844	c.2005C>A	c.(2005-2007)CCC>ACC	p.P669T	PRDM8_uc003hmb.3_Missense_Mutation_p.P669T|PRDM8_uc003hmc.3_Missense_Mutation_p.P669T	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	669	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						ACTCAAGTGCCCCATCTGCAA	0.577												
AFF1	4299	broad.mit.edu	37	4	87968052	87968052	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:87968052C>A	uc003hqj.3	+	3	751	c.344C>A	c.(343-345)TCC>TAC	p.S115Y	AFF1_uc011ccx.1_Missense_Mutation_p.S56Y|AFF1_uc003hqh.1_Missense_Mutation_p.S122Y|AFF1_uc011ccy.1_Missense_Mutation_p.S122Y|AFF1_uc011ccz.1_Missense_Mutation_p.S122Y|AFF1_uc003hqk.3_Missense_Mutation_p.S115Y|AFF1_uc011cda.1_Intron	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	115						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CACCACCAGTCCATTCACACT	0.493												
ABCG2	9429	broad.mit.edu	37	4	89020553	89020553	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:89020553C>T	uc003hrg.2	-	12	1908	c.1415G>A	c.(1414-1416)GGA>GAA	p.G472E	ABCG2_uc003hrh.2_Missense_Mutation_p.G472E|ABCG2_uc003hrf.2_Missense_Mutation_p.G340E	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G, member 2	472	ABC transmembrane type-2.|Cytoplasmic (Potential).				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	TAACAGTTTTCCAAGGAAATA	0.318												
COL25A1	84570	broad.mit.edu	37	4	110223091	110223091	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:110223091G>A	uc003hze.1	-	2	616	c.85C>T	c.(85-87)CGG>TGG	p.R29W	COL25A1_uc003hzg.2_Missense_Mutation_p.R29W|COL25A1_uc003hzh.1_Missense_Mutation_p.R29W	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1	29	Cytoplasmic (Potential).					collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GGCATGGTCCGGGCACAATGC	0.677												
ANK2	287	broad.mit.edu	37	4	114161659	114161659	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:114161659C>A	uc003ibe.3	+	8	812	c.712C>A	c.(712-714)CAC>AAC	p.H238N	ANK2_uc003ibd.3_Missense_Mutation_p.H217N|ANK2_uc003ibf.3_Missense_Mutation_p.H238N|ANK2_uc003ibc.2_Missense_Mutation_p.H214N|ANK2_uc011cgb.1_Missense_Mutation_p.H253N	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	238	ANK 7.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TACCCCTTTGCACATAGCTGC	0.433												
ANK2	287	broad.mit.edu	37	4	114274836	114274836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:114274836C>T	uc003ibe.3	+	38	5162	c.5062C>T	c.(5062-5064)CAG>TAG	p.Q1688*	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Nonsense_Mutation_p.Q1703*	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1655					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGATGAGACACAGAGTACACA	0.443												
C4orf31	79625	broad.mit.edu	37	4	121958509	121958509	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:121958509T>C	uc003idq.1	-	4	1144	c.617A>G	c.(616-618)AAA>AGA	p.K206R		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625 precursor	206											0						AATGGGTTGTTTCAGCAAAGA	0.483												
QRFPR	84109	broad.mit.edu	37	4	122254150	122254150	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:122254150G>T	uc010inj.1	-	4	1002	c.623C>A	c.(622-624)CCT>CAT	p.P208H	QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_Missense_Mutation_p.P208H	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN	G protein-coupled receptor 103	208	Extracellular (Potential).					plasma membrane	neuropeptide Y receptor activity				0						CTGGTGCACAGGGCTGGTCCA	0.388												
PCDH10	57575	broad.mit.edu	37	4	134072535	134072536	+	Missense_Mutation	DNP	AC	AC	CA			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:134072535_134072536AC>CA	uc003iha.2	+	1	2066_2067	c.1240_1241AC>CA	c.(1240-1242)ACC>CAC	p.T414H	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.T414H	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	414	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		GAATTACTACACCATCGTTACC	0.609												
MMAA	166785	broad.mit.edu	37	4	146563587	146563587	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:146563587G>A	uc003ikh.3	+	3	597	c.512G>A	c.(511-513)GGG>GAG	p.G171E	MMAA_uc003ikg.2_Missense_Mutation_p.G171E|MMAA_uc003iki.1_RNA|MMAA_uc010iow.2_RNA	NM_172250	NP_758454	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria type A precursor	171						mitochondrion	GTP binding|nucleoside-triphosphatase activity			ovary(1)	1	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACTGAGAGAGGGCACAAATTA	0.428												
SFRP2	6423	broad.mit.edu	37	4	154702668	154702668	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:154702668G>A	uc003inv.1	-	3	1064	c.823C>T	c.(823-825)CGG>TGG	p.R275W		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2 precursor	275	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.093)	Renal(120;0.117)				TTCTGCCACCGCTTCACCGAG	0.607												
NPY2R	4887	broad.mit.edu	37	4	156135999	156135999	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:156135999A>G	uc003ioq.2	+	2	1403	c.908A>G	c.(907-909)TAC>TGC	p.Y303C	NPY2R_uc003ior.2_Missense_Mutation_p.Y303C	NM_000910	NP_000901	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	303	Extracellular (Potential).				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			lung(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0854)				CTGAAGGAGTACAAACTCATC	0.527												
TLL1	7092	broad.mit.edu	37	4	166910643	166910643	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:166910643G>T	uc003irh.1	+	2	927	c.280G>T	c.(280-282)GGT>TGT	p.G94C	TLL1_uc011cjn.1_Missense_Mutation_p.G94C|TLL1_uc011cjo.1_Translation_Start_Site	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	94					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)		ACATACCACAGGTATGGTTGA	0.343												
CLCN3	1182	broad.mit.edu	37	4	170618478	170618478	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:170618478T>C	uc003isi.2	+	9	1665	c.1156T>C	c.(1156-1158)TAC>CAC	p.Y386H	CLCN3_uc003ish.2_Missense_Mutation_p.Y386H|CLCN3_uc011cjz.1_Missense_Mutation_p.Y369H|CLCN3_uc011cka.1_Missense_Mutation_p.Y359H|CLCN3_uc003isj.1_Missense_Mutation_p.Y359H	NM_001829	NP_001820	P51790	CLCN3_HUMAN	chloride channel 3 isoform b	386					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)		TACACCATGGTACCTTTTTGA	0.423												
SLC9A3	6550	broad.mit.edu	37	5	482225	482225	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:482225G>A	uc003jbe.2	-	8	1516	c.1404C>T	c.(1402-1404)AGC>AGT	p.S468S	SLC9A3_uc011clx.1_Silent_p.S459S	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	468	Cytoplasmic (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CCCGGTGCTCGCTCCTCTTCA	0.697												
ZDHHC11	79844	broad.mit.edu	37	5	850499	850499	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:850499G>A	uc011cma.1	-	1	603	c.219C>T	c.(217-219)TAC>TAT	p.Y73Y	ZDHHC11_uc003jbj.2_5'Flank	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	73	Helical; (Potential).					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)			AGGATACCACGTAGGCAATGT	0.597												
SLC12A7	10723	broad.mit.edu	37	5	1076887	1076887	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:1076887G>A	uc003jbu.2	-	13	1736	c.1670C>T	c.(1669-1671)GCG>GTG	p.A557V		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	557	Helical; (Potential).				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CAGCAGCAGCGCCCACGTGGG	0.632												
TERT	7015	broad.mit.edu	37	5	1294623	1294623	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:1294623C>T	uc003jcb.1	-	2	436	c.378G>A	c.(376-378)ACG>ACA	p.T126T	TERT_uc003jca.1_Silent_p.T126T|TERT_uc003jcc.1_Silent_p.T126T|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA	NM_198253	NP_937983	O14746	TERT_HUMAN	telomerase reverse transcriptase isoform 1	126	RNA-interacting domain 1.|GQ motif.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGTCGGTCACCGTGTTGGGCA	0.622									TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic			
IRX1	79192	broad.mit.edu	37	5	3599882	3599882	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:3599882G>A	uc003jde.2	+	2	872	c.820G>A	c.(820-822)GTT>ATT	p.V274I		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	274						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						AGCAGCCGACGTTCTCAAGCC	0.726												
ADAMTS16	170690	broad.mit.edu	37	5	5239385	5239385	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:5239385A>G	uc003jdl.2	+	15	2414	c.2276A>G	c.(2275-2277)AAC>AGC	p.N759S	ADAMTS16_uc003jdk.1_Missense_Mutation_p.N759S|ADAMTS16_uc010itk.1_RNA	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	759	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						CACCACACCAACCGTGAGTAC	0.512												
SEMA5A	9037	broad.mit.edu	37	5	9066627	9066627	+	Silent	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:9066627G>T	uc003jek.2	-	17	2917	c.2205C>A	c.(2203-2205)GCC>GCA	p.A735A		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	735	TSP type-1 4.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						CAGCCAGGCGGGCTTTGCATG	0.552												
DNAH5	1767	broad.mit.edu	37	5	13754314	13754314	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:13754314A>G	uc003jfd.2	-	62	10595	c.10553T>C	c.(10552-10554)GTA>GCA	p.V3518A	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3518					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)					TTACATACCTACAAGTCTTTT	0.363									Kartagener_syndrome			
TRIO	7204	broad.mit.edu	37	5	14507244	14507244	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:14507244C>T	uc003jff.2	+	56	8632	c.8626C>T	c.(8626-8628)CGC>TGC	p.R2876C	TRIO_uc003jfg.2_RNA	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2876	Protein kinase.				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	p.R2876C(2)		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)					TGACCAGGGTCGCCTCCTGGA	0.567												
CDH12	1010	broad.mit.edu	37	5	21802471	21802471	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:21802471T>C	uc010iuc.2	-	7	1519	c.1061A>G	c.(1060-1062)CAC>CGC	p.H354R	CDH12_uc011cno.1_Missense_Mutation_p.H314R|CDH12_uc003jgk.2_Missense_Mutation_p.H354R	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	354	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						GTGGTCAAGGTGAAGGTTGGA	0.453										HNSCC(59;0.17)		
PRDM9	56979	broad.mit.edu	37	5	23521189	23521189	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:23521189G>A	uc003jgo.2	+	6	591	c.409G>A	c.(409-411)GCA>ACA	p.A137T		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	137					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						GTCAAGAACAGCAAATTTACT	0.423										HNSCC(3;0.000094)		
TARS	6897	broad.mit.edu	37	5	33459936	33459936	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:33459936C>T	uc003jhy.2	+	11	1515	c.1220C>T	c.(1219-1221)GCC>GTC	p.A407V	TARS_uc011cob.1_Missense_Mutation_p.A395V|TARS_uc010iup.1_Missense_Mutation_p.A348V|TARS_uc011coc.1_Missense_Mutation_p.A428V|TARS_uc003jhz.2_Missense_Mutation_p.A303V|TARS_uc011cod.1_Missense_Mutation_p.A286V	NM_152295	NP_689508	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	407					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			ovary(2)	2					L-Threonine(DB00156)	GAGCTGTTTGCCCTGAAACCC	0.502												
TTC23L	153657	broad.mit.edu	37	5	34867166	34867166	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:34867166T>G	uc003jiu.2	+	7	935	c.832T>G	c.(832-834)TTG>GTG	p.L278V	TTC23L_uc003jiv.2_Missense_Mutation_p.L85V|TTC23L_uc010iut.1_Missense_Mutation_p.L85V	NM_144725	NP_653326	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	278	Potential.						binding			central_nervous_system(1)	1						CATCCAGTACTTGCAGCAGGT	0.577												
NUP155	9631	broad.mit.edu	37	5	37294516	37294516	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:37294516A>G	uc003jku.1	-	33	3963	c.3845T>C	c.(3844-3846)GTG>GCG	p.V1282A	NUP155_uc003jkt.1_Missense_Mutation_p.V1223A|NUP155_uc010iuz.1_Missense_Mutation_p.V1218A	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	1282					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TACGAAGCCCACATCCCAGTT	0.338												
LIFR	3977	broad.mit.edu	37	5	38502900	38502900	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:38502900C>T	uc010ive.1	-	11	1771	c.1439G>A	c.(1438-1440)CGG>CAG	p.R480Q	LIFR_uc003jli.2_Missense_Mutation_p.R480Q	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	480	Extracellular (Potential).|Fibronectin type-III 3.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)					TGTGACATTCCGCTATTGGAA	0.229			T	PLAG1	salivary adenoma							
OXCT1	5019	broad.mit.edu	37	5	41807470	41807470	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:41807470C>T	uc003jmn.2	-	8	1134	c.803G>A	c.(802-804)CGC>CAC	p.R268H		NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	268					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			ovary(2)|large_intestine(1)	3					Succinic acid(DB00139)	CTTTATAAGGCGATGTACATA	0.363												
ZNF131	7690	broad.mit.edu	37	5	43161649	43161649	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:43161649G>T	uc011cpw.1	+	5	706	c.670G>T	c.(670-672)GGT>TGT	p.G224C	ZNF131_uc010ivl.1_Missense_Mutation_p.G224C|ZNF131_uc003jnj.3_Translation_Start_Site|ZNF131_uc003jnk.2_Missense_Mutation_p.G224C|ZNF131_uc003jnn.3_Translation_Start_Site|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron	NM_003432	NP_003423	P52739	ZN131_HUMAN	zinc finger protein 131	224						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GTACCGTCAAGGTGACAGAAA	0.468												
SNX18	112574	broad.mit.edu	37	5	53814787	53814787	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:53814787G>A	uc003jpj.3	+	1	1195	c.1005G>A	c.(1003-1005)CTG>CTA	p.L335L	SNX18_uc011cqg.1_Silent_p.L335L|SNX18_uc003jpi.3_Silent_p.L335L	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN	sorting nexin 18 isoform b	335	PX.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding				0		Lung NSC(810;3.46e-05)|Breast(144;0.102)				TGCCCCACCTGCCCGAGAAGC	0.652												
SGTB	54557	broad.mit.edu	37	5	65016588	65016588	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:65016588C>T	uc003jud.2	-	2	267	c.47G>A	c.(46-48)CGG>CAG	p.R16Q	NLN_uc003jue.2_5'Flank|NLN_uc003juf.2_5'Flank	NM_019072	NP_061945	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat	16	TPR 1.						binding				0		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		ACTTTGTTCCCGTAAGAAACG	0.338												
ERBB2IP	55914	broad.mit.edu	37	5	65350485	65350485	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:65350485G>A	uc003juk.1	+	21	3647	c.3339G>A	c.(3337-3339)GCG>GCA	p.A1113A	ERBB2IP_uc003jui.1_Silent_p.A1113A|ERBB2IP_uc003juj.1_Silent_p.A1113A|ERBB2IP_uc011cqx.1_Silent_p.A1113A|ERBB2IP_uc011cqy.1_Silent_p.A1113A|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Silent_p.A1109A|ERBB2IP_uc003jul.1_Silent_p.A1109A	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2	1113					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)	7		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TCCACTCAGCGGGAAGAACTC	0.493												
MAST4	375449	broad.mit.edu	37	5	66461169	66461169	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:66461169G>A	uc003jut.1	+	28	5663	c.5595G>A	c.(5593-5595)CCG>CCA	p.P1865P	MAST4_uc003juw.2_Silent_p.P1793P|MAST4_uc003jux.2_5'Flank	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	2057						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.R1865K(1)		lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CGAGGCCCCCGCCCAGAGACA	0.607												
CMYA5	202333	broad.mit.edu	37	5	79025878	79025878	+	Silent	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:79025878T>G	uc003kgc.2	+	2	1362	c.1290T>G	c.(1288-1290)GCT>GCG	p.A430A		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	430						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGTATTCTGCTCACCATTCCA	0.488												
CMYA5	202333	broad.mit.edu	37	5	79027433	79027433	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:79027433T>C	uc003kgc.2	+	2	2917	c.2845T>C	c.(2845-2847)TCT>CCT	p.S949P		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	949						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTCTCCAGATTCTGCATTTGT	0.388												
CMYA5	202333	broad.mit.edu	37	5	79029547	79029547	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:79029547T>C	uc003kgc.2	+	2	5031	c.4959T>C	c.(4957-4959)GGT>GGC	p.G1653G		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1653						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GATCCATAGGTACAAAACAAG	0.413												
EDIL3	10085	broad.mit.edu	37	5	83239319	83239319	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:83239319T>C	uc003kio.1	-	11	1781	c.1362A>G	c.(1360-1362)CGA>CGG	p.R454R	EDIL3_uc003kip.1_Silent_p.R444R	NM_005711	NP_005702	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like	454	F5/8 type C 2.				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)		TTCTTATGTGTCGTGCATAGA	0.468												
LYSMD3	116068	broad.mit.edu	37	5	89814797	89814797	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:89814797C>T	uc003kjr.2	-	3	908	c.760G>A	c.(760-762)GTG>ATG	p.V254M	LYSMD3_uc010jaz.1_Silent_p.Q95Q|LYSMD3_uc003kjs.1_3'UTR	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain	254	Cytoplasmic (Potential).				cell wall macromolecule catabolic process	integral to membrane					0		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		GAAGAGTCCACTGTTGAATGA	0.348												
ERAP2	64167	broad.mit.edu	37	5	96232522	96232522	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:96232522C>T	uc003kmq.2	+	9	2168	c.1458C>T	c.(1456-1458)AGC>AGT	p.S486S	uc003kmo.1_Intron|ERAP2_uc003kmt.2_Silent_p.S486S|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Silent_p.S435S|ERAP2_uc003kmu.2_RNA	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	486	Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding				0		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		AGAAGTTCAGCTATAGAAATG	0.333												
FER	2241	broad.mit.edu	37	5	108523207	108523207	+	Silent	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:108523207A>G	uc003kop.1	+	20	2784	c.2400A>G	c.(2398-2400)AAA>AAG	p.K800K	FER_uc011cvg.1_Silent_p.K625K	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	800	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GGGATTATAAACCTGAAAATC	0.453												
APC	324	broad.mit.edu	37	5	112178211	112178211	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:112178211C>T	uc010jby.2	+	16	7300	c.6920C>T	c.(6919-6921)TCG>TTG	p.S2307L	APC_uc011cvt.1_Missense_Mutation_p.S2289L|APC_uc003kpz.3_Missense_Mutation_p.S2307L|APC_uc003kpy.3_Missense_Mutation_p.S2307L|APC_uc010jbz.2_Missense_Mutation_p.S2024L|APC_uc010jca.2_Missense_Mutation_p.S1607L	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	2307	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCTAGAGATTCGACCCCTTCA	0.473		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)		
DMXL1	1657	broad.mit.edu	37	5	118556667	118556667	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:118556667A>G	uc003ksd.2	+	36	8286	c.8105A>G	c.(8104-8106)GAT>GGT	p.D2702G	DMXL1_uc010jcl.1_Missense_Mutation_p.D2723G	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2702										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CATGCTCGTGATGATTTAACA	0.383												
RAPGEF6	51735	broad.mit.edu	37	5	130939000	130939000	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:130939000C>A	uc003kvn.1	-	3	367	c.161G>T	c.(160-162)CGC>CTC	p.R54L	RAPGEF6_uc003kvp.1_Missense_Mutation_p.R104L|RAPGEF6_uc003kvo.1_Missense_Mutation_p.R54L|RAPGEF6_uc010jdi.1_Missense_Mutation_p.R54L|RAPGEF6_uc010jdj.1_Missense_Mutation_p.R54L|RAPGEF6_uc003kvr.2_Missense_Mutation_p.R54L|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.R54L	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	54					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCTCTCATAGCGTGCTCTTGC	0.249												
PDLIM4	8572	broad.mit.edu	37	5	131607542	131607542	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:131607542C>T	uc003kwn.2	+	6	806	c.729C>T	c.(727-729)GGC>GGT	p.G243G	uc003kwm.3_Intron|PDLIM4_uc003kwp.2_Intron|PDLIM4_uc003kwo.2_Silent_p.G351G	NM_003687	NP_003678	P50479	PDLI4_HUMAN	PDZ and LIM domain 4 isoform 1	243							protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCAAGCTGGGCGCTCCGCTGA	0.721												
C5orf15	56951	broad.mit.edu	37	5	133304225	133304225	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:133304225C>T	uc003kyo.2	-	1	182	c.51G>A	c.(49-51)CTG>CTA	p.L17L		NM_020199	NP_064584	Q8NC54	KCT2_HUMAN	keratinocytes associated transmembrane protein 2	17						integral to membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			ACCCGGGCAGCAGTTTCGCTT	0.667												
MATR3	9782	broad.mit.edu	37	5	138650379	138650379	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:138650379A>G	uc003ldu.2	+	6	1355	c.928A>G	c.(928-930)ATC>GTC	p.I310V	MATR3_uc010jfb.2_Missense_Mutation_p.I310V|MATR3_uc003ldt.2_Translation_Start_Site|MATR3_uc003ldw.2_Missense_Mutation_p.I310V|MATR3_uc003ldx.2_Missense_Mutation_p.I310V|MATR3_uc010jfc.2_Missense_Mutation_p.I310V|MATR3_uc003ldy.2_Translation_Start_Site|MATR3_uc011czb.1_Missense_Mutation_p.I22V|MATR3_uc003ldz.2_Missense_Mutation_p.I310V|MATR3_uc003lea.2_Missense_Mutation_p.I310V|MATR3_uc003leb.2_Translation_Start_Site|MATR3_uc003lec.2_Translation_Start_Site	NM_199189	NP_954659	P43243	MATR3_HUMAN	matrin 3	310						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GAGTCAACATATCAATGGAGC	0.348												
NRG2	9542	broad.mit.edu	37	5	139231224	139231224	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:139231224G>A	uc003lex.1	-	9	1962	c.1737C>T	c.(1735-1737)TCC>TCT	p.S579S	NRG2_uc003lev.1_Silent_p.S587S|NRG2_uc003lew.1_Silent_p.S581S|NRG2_uc003ley.1_Silent_p.S573S	NM_004883	NP_004874	O14511	NRG2_HUMAN	neuregulin 2 isoform 1	579	Cytoplasmic (Potential).				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			pancreas(2)|breast(2)|ovary(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGTCCACGGAATCGTGAT	0.657												
APBB3	10307	broad.mit.edu	37	5	139942072	139942072	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:139942072G>A	uc003lgd.1	-	5	723	c.364C>T	c.(364-366)CGC>TGC	p.R122C	APBB3_uc003lgb.1_5'UTR|APBB3_uc003lgc.1_5'UTR|APBB3_uc003lge.1_Missense_Mutation_p.R122C|APBB3_uc003lgf.1_RNA|APBB3_uc010jfp.1_RNA|APBB3_uc011czi.1_5'UTR|APBB3_uc010jfq.1_5'Flank|SLC35A4_uc003lgg.1_5'Flank|SLC35A4_uc003lgh.1_5'Flank	NM_133172	NP_573418	O95704	APBB3_HUMAN	amyloid beta precursor protein-binding, family	122	PID 1.					actin cytoskeleton|cytoplasm				ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAGAGAGCGGACTGCAAAG	0.552												
HARS	3035	broad.mit.edu	37	5	140056256	140056256	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:140056256C>T	uc003lgv.2	-	10	1259	c.1177G>A	c.(1177-1179)GTG>ATG	p.V393M	HARS_uc003lgu.2_Missense_Mutation_p.V324M|HARS_uc011czm.1_Missense_Mutation_p.V353M|HARS_uc003lgw.2_Missense_Mutation_p.V373M|HARS_uc011czn.1_Missense_Mutation_p.V333M|HARS_uc010jfu.2_Missense_Mutation_p.V393M|HARS_uc011czo.1_Missense_Mutation_p.V319M|HARS_uc011czp.1_Missense_Mutation_p.V279M|HARS_uc011czq.1_Missense_Mutation_p.V283M	NM_002109	NP_002100	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	393					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CTCTGTTCCACGATGGAGAAA	0.557												
PCDHA9	9752	broad.mit.edu	37	5	140229932	140229932	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:140229932G>A	uc003lhu.2	+	1	2576	c.1852G>A	c.(1852-1854)GCG>ACG	p.A618T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.A618T	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	618	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGGCCAGCGCGAGCATCCC	0.682												
PCDHAC2	56134	broad.mit.edu	37	5	140348878	140348878	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:140348878C>A	uc003lii.2	+	1	2767	c.2527C>A	c.(2527-2529)CTG>ATG	p.L843M	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_Missense_Mutation_p.L843M	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	843	Cytoplasmic (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)			TGCTGGGAACCTGATTATTCT	0.502												
PCDHB7	56129	broad.mit.edu	37	5	140553092	140553092	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:140553092G>A	uc003lit.2	+	1	850	c.676G>A	c.(676-678)GCC>ACC	p.A226T		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	226	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCAGGGACCGCCCTCGTGCG	0.542												
PCDHB9	56127	broad.mit.edu	37	5	140567582	140567582	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:140567582T>C	uc003liw.1	+	1	690	c.690T>C	c.(688-690)ATT>ATC	p.I230I		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	230	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTATACGCATTGTGGTCTTGG	0.532												
PCDHB11	56125	broad.mit.edu	37	5	140581696	140581696	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:140581696T>C	uc003liy.2	+	1	2349	c.2349T>C	c.(2347-2349)AGT>AGC	p.S783S	PCDHB11_uc011daj.1_Silent_p.S418S	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	783	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAAGAATAGTGAAGAAAACT	0.358												
PCDHB14	56122	broad.mit.edu	37	5	140605247	140605247	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:140605247C>T	uc003ljb.2	+	1	2170	c.2170C>T	c.(2170-2172)CGC>TGC	p.R724C	PCDHB14_uc011dal.1_Missense_Mutation_p.R571C	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	724	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGGTGGGTCGCTGCTCGGT	0.667												
PCDHGA2	56113	broad.mit.edu	37	5	140720764	140720764	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:140720764C>T	uc003ljk.1	+	1	2411	c.2226C>T	c.(2224-2226)GGC>GGT	p.G742G	PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Silent_p.G742G|PCDHGA3_uc011dap.1_5'Flank	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	742	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTTGTGGGCGTGGACGGGG	0.627												
PCDHGB5	56101	broad.mit.edu	37	5	140779519	140779519	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:140779519G>A	uc003lkf.1	+	1	1825	c.1825G>A	c.(1825-1827)GAG>AAG	p.E609K	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.E609K	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	609	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGCTAGCGAGCCCGGGCT	0.697												
PCDHGA10	56106	broad.mit.edu	37	5	140794641	140794641	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:140794641G>A	uc003lkl.1	+	1	1899	c.1899G>A	c.(1897-1899)GCG>GCA	p.A633A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Silent_p.A633A|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	633	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCACGGCGCGAGCCCTGC	0.697												
ABLIM3	22885	broad.mit.edu	37	5	148619447	148619447	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:148619447C>T	uc003lpy.2	+	13	1451	c.1200C>T	c.(1198-1200)CGC>CGT	p.R400R	ABLIM3_uc003lpz.1_Silent_p.R400R|ABLIM3_uc003lqa.1_Silent_p.R346R|ABLIM3_uc003lqb.2_Silent_p.R338R|ABLIM3_uc003lqc.1_Silent_p.R400R|ABLIM3_uc003lqd.1_Silent_p.R338R|ABLIM3_uc003lqf.2_Silent_p.R338R|ABLIM3_uc003lqe.1_Silent_p.R338R	NM_014945	NP_055760	O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	400					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			ovary(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTACTACCGCTCTGGTAAGG	0.642												
ZNF300	91975	broad.mit.edu	37	5	150276528	150276528	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:150276528C>T	uc003lsy.1	-	6	540	c.273G>A	c.(271-273)AAG>AAA	p.K91K	IRGM_uc011dcl.1_Intron	NM_052860	NP_443092	Q96RE9	ZN300_HUMAN	zinc finger protein 300	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAGGTTACTCTTCCTGTCTA	0.373												
HAVCR1	26762	broad.mit.edu	37	5	156479604	156479604	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:156479604G>T	uc010jij.1	-	4	626	c.441C>A	c.(439-441)AGC>AGA	p.S147R	HAVCR1_uc011ddl.1_5'UTR|HAVCR1_uc003lwi.2_Missense_Mutation_p.S147R|HAVCR1_uc011ddm.1_Missense_Mutation_p.S147R	NM_001099414	NP_001092884	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	147	Extracellular (Potential).|11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.|2.				interspecies interaction between organisms	integral to membrane	receptor activity			ovary(1)|skin(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAACAGTGGTGCTCGTTCGAA	0.473												
CYFIP2	26999	broad.mit.edu	37	5	156721849	156721849	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:156721849T>G	uc003lwq.2	+	4	403	c.265T>G	c.(265-267)TGT>GGT	p.C89G	CYFIP2_uc011ddn.1_Intron|CYFIP2_uc011ddo.1_Intron|CYFIP2_uc003lwr.2_Missense_Mutation_p.C89G|CYFIP2_uc003lws.2_Missense_Mutation_p.C89G|CYFIP2_uc003lwt.2_5'Flank|CYFIP2_uc011ddp.1_5'Flank|CYFIP2_uc003lwp.2_5'UTR	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	89					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGGCGCAGCTGTTCCCGGGC	0.537												
IL12B	3593	broad.mit.edu	37	5	158749469	158749469	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:158749469G>A	uc003lxr.1	-	4	457	c.415C>T	c.(415-417)CGT>TGT	p.R139C		NM_002187	NP_002178	P29460	IL12B_HUMAN	interleukin 12B precursor	139					cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity				0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGGTGAAACGTCCAGAATAA	0.388												
GABRG2	2566	broad.mit.edu	37	5	161495078	161495078	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:161495078G>A	uc003lyz.3	+	1	431	c.73G>A	c.(73-75)GTG>ATG	p.V25M	GABRG2_uc010jjc.2_Missense_Mutation_p.V25M|GABRG2_uc003lyy.3_Missense_Mutation_p.V25M|GABRG2_uc011dej.1_Translation_Start_Site	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	25					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)|skin(1)	5	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GAAAATGACGGTGTGGATTCT	0.493												
NSD1	64324	broad.mit.edu	37	5	176721436	176721436	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:176721436C>T	uc003mfr.3	+	23	7205	c.7067C>T	c.(7066-7068)ACG>ATG	p.T2356M	NSD1_uc003mft.3_Missense_Mutation_p.T2087M|NSD1_uc011dfx.1_Missense_Mutation_p.T2004M	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2356	Pro-rich.				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)		CCTCTGGGGACGGCTGACCCA	0.602			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)		
NSD1	64324	broad.mit.edu	37	5	176721771	176721771	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:176721771C>T	uc003mfr.3	+	23	7540	c.7402C>T	c.(7402-7404)CGG>TGG	p.R2468W	NSD1_uc003mft.3_Missense_Mutation_p.R2199W|NSD1_uc011dfx.1_Missense_Mutation_p.R2116W	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2468					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)		CCAGAAGGAGCGGGCAGCTTC	0.507			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)		
PFN3	345456	broad.mit.edu	37	5	176827207	176827207	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:176827207G>A	uc003mgl.2	-	1	431	c.371C>T	c.(370-372)ACG>ATG	p.T124M		NM_001029886	NP_001025057	P60673	PROF3_HUMAN	profilin 3	124					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin binding				0	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCGTGCACCGTCTTGTTGAG	0.706												
GRK6	2870	broad.mit.edu	37	5	176868759	176868759	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:176868759G>A	uc011dfz.1	+	17	1861	c.1701G>A	c.(1699-1701)GCG>GCA	p.A567A	uc003mgt.2_Intron	NM_002082	NP_002073	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6 isoform B	Error:Variant_position_missing_in_P43250_after_alignment					regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)|stomach(1)|breast(1)	3	all_cancers(89;1.15e-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)			AAACTGCAGCGACAGCGAGGA	0.642												
RASGEF1C	255426	broad.mit.edu	37	5	179545688	179545688	+	Missense_Mutation	SNP	G	G	A	rs145725435		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:179545688G>A	uc003mlq.2	-	9	1301	c.1004C>T	c.(1003-1005)ACG>ATG	p.T335M	RASGEF1C_uc003mlr.2_Missense_Mutation_p.T335M|RASGEF1C_uc003mlp.3_Missense_Mutation_p.T184M	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	335	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAATTCCCCGTTGGGTCCAT	0.662												
RASGEF1C	255426	broad.mit.edu	37	5	179563481	179563481	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:179563481T>C	uc003mlq.2	-	3	632	c.335A>G	c.(334-336)CAG>CGG	p.Q112R	RASGEF1C_uc003mlr.2_Missense_Mutation_p.Q112R|RASGEF1C_uc003mlp.3_5'UTR	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	112	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCCAACAGCTGCAGCAGTTT	0.682												
FLT4	2324	broad.mit.edu	37	5	180048230	180048230	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:180048230C>T	uc003mma.3	-	14	2122	c.2043G>A	c.(2041-2043)ACG>ACA	p.T681T	FLT4_uc003mlz.3_Silent_p.T681T|FLT4_uc003mmb.1_Silent_p.T214T|FLT4_uc011dgy.1_Silent_p.T681T	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	681	Ig-like C2-type 7.|Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCAAGTTCTGCGTGAGCCGAG	0.637									Congenital_Hereditary_Lymphedema			
HUS1B	135458	broad.mit.edu	37	6	656447	656447	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:656447C>T	uc003mtg.2	-	1	518	c.498G>A	c.(496-498)AGG>AGA	p.R166R	EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint protein B	166											0	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		CCACGATGCTCCTCAGCGTCC	0.667												
RREB1	6239	broad.mit.edu	37	6	7230996	7230996	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:7230996C>T	uc003mxc.2	+	10	3054	c.2664C>T	c.(2662-2664)CCC>CCT	p.P888P	RREB1_uc003mxb.2_Silent_p.P888P|RREB1_uc010jnx.2_Silent_p.P888P	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	888					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)				AGTTGGAGCCCGCCAGTAGCT	0.597												
DSP	1832	broad.mit.edu	37	6	7559542	7559542	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:7559542G>A	uc003mxp.1	+	4	785	c.506G>A	c.(505-507)GGT>GAT	p.G169D	DSP_uc003mxq.1_Missense_Mutation_p.G169D	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	169	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				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)		TCCAAGGGTGGTGGAGGCTAC	0.532												
ELOVL2	54898	broad.mit.edu	37	6	10990652	10990652	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:10990652T>C	uc003mzp.3	-	6	690	c.529A>G	c.(529-531)AGT>GGT	p.S177G		NM_017770	NP_060240	Q9NXB9	ELOV2_HUMAN	elongation of very long chain fatty acids-like	177	Helical; (Potential).				fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding				0	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TGGATAAAACTGTTCAGTGTT	0.373												
GPLD1	2822	broad.mit.edu	37	6	24437410	24437410	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:24437410T>G	uc003ned.1	-	21	2239	c.2128A>C	c.(2128-2130)AGC>CGC	p.S710R		NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	710	FG-GAP 6.					extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3						CGGTCTCCGCTGAAGGTGCTG	0.562												
BTN3A2	11118	broad.mit.edu	37	6	26370798	26370798	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:26370798G>A	uc010jqh.1	+	5	941	c.682G>A	c.(682-684)GGC>AGC	p.G228S	BTN3A2_uc003nho.1_Missense_Mutation_p.G226S|BTN3A2_uc003nhp.2_Missense_Mutation_p.G228S|BTN3A2_uc011dkd.1_Missense_Mutation_p.G186S|BTN3A2_uc011dke.1_Missense_Mutation_p.G205S|BTN3A2_uc010jqi.1_Missense_Mutation_p.G226S	NM_007047	NP_008978	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2 precursor	228	Extracellular (Potential).					integral to membrane					0						TTCCCTCCTCGGCCTGGAAAA	0.537												
VARS2	57176	broad.mit.edu	37	6	30883933	30883933	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:30883933T>C	uc003nsc.1	+	6	1210	c.578T>C	c.(577-579)GTG>GCG	p.V193A	VARS2_uc003nsd.2_Missense_Mutation_p.V193A|VARS2_uc011dmx.1_Missense_Mutation_p.V193A|VARS2_uc011dmy.1_Missense_Mutation_p.V53A|VARS2_uc011dmz.1_Missense_Mutation_p.V223A|VARS2_uc011dna.1_Missense_Mutation_p.V193A|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_5'Flank	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	193					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						CTGCAGGCTGTGGTGGAGAAA	0.522												
RDBP	7936	broad.mit.edu	37	6	31922410	31922410	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:31922410G>A	uc003nyk.2	-	7	868	c.664C>T	c.(664-666)CGG>TGG	p.R222W	RDBP_uc011dot.1_Missense_Mutation_p.R192W|RDBP_uc003nyl.1_Missense_Mutation_p.R162W|RDBP_uc003nym.1_Missense_Mutation_p.R217W	NM_002904	NP_002895	P18615	NELFE_HUMAN	RD RNA-binding protein	222	20.|30 X 2 AA approximate tandem repeats of R-[DSNE].				positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	nucleotide binding|protein binding|RNA binding				0						tctcgatcccgatcccgatcc	0.144												
PBX2	5089	broad.mit.edu	37	6	32157508	32157508	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:32157508G>A	uc003oav.1	-	1	456	c.185C>T	c.(184-186)ACC>ATC	p.T62I	PBX2_uc003oaw.2_Missense_Mutation_p.T62I	NM_002586	NP_002577	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	62							transcription factor binding			ovary(1)	1						GTCGGTGATGGTCATTATCTG	0.657												
B3GALT4	8705	broad.mit.edu	37	6	33245588	33245588	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:33245588A>G	uc003odr.2	+	1	672	c.392A>G	c.(391-393)GAG>GGG	p.E131G		NM_003782	NP_003773	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta	131	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)|breast(1)	2						CTGGCCTCGGAGTCAGCAGCC	0.647												
SYNGAP1	8831	broad.mit.edu	37	6	33409508	33409508	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:33409508C>T	uc011dri.1	+	13	2461	c.2266C>T	c.(2266-2268)CAG>TAG	p.Q756*	SYNGAP1_uc010juy.2_Nonsense_Mutation_p.Q741*|SYNGAP1_uc010juz.2_Nonsense_Mutation_p.Q468*	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	756					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						GGCTGAGATGCAGGGCTACAT	0.632												
CDKN1A	1026	broad.mit.edu	37	6	36651917	36651917	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:36651917C>T	uc003omm.3	+	2	161	c.39C>T	c.(37-39)TGC>TGT	p.C13C	CDKN1A_uc011dtq.1_Silent_p.C47C|CDKN1A_uc003oml.2_Silent_p.C13C|CDKN1A_uc003omn.2_Silent_p.C13C	NM_000389	NP_000380	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A	13	C4-type (Potential).				cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			ovary(1)|breast(1)	2						AGAACCCATGCGGCAGCAAGG	0.637									Multiple_Endocrine_Neoplasia_type_1			
KCNK5	8645	broad.mit.edu	37	6	39158873	39158873	+	Silent	SNP	G	G	A	rs144931567		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:39158873G>A	uc003oon.2	-	5	1657	c.1293C>T	c.(1291-1293)GAC>GAT	p.D431D		NM_003740	NP_003731	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	431					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2						AGGTCTCCTCGTCTGAGAGGC	0.632												
USP49	25862	broad.mit.edu	37	6	41774562	41774562	+	Missense_Mutation	SNP	C	C	T	rs144313199		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:41774562C>T	uc003ori.2	-	4	382	c.160G>A	c.(160-162)GCC>ACC	p.A54T		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	ubiquitin thioesterase 49	54	UBP-type.				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)			TGTTTCAGGGCGTGGTCCTCA	0.577												
CUL7	9820	broad.mit.edu	37	6	43017368	43017368	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:43017368G>A	uc003otq.2	-	7	1905	c.1602C>T	c.(1600-1602)GCC>GCT	p.A534A	CUL7_uc010jyg.2_5'Flank|CUL7_uc011dvb.1_Silent_p.A618A|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	534					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTATGGGCACGGCCAGTTCAG	0.562												
C6orf108	10591	broad.mit.edu	37	6	43194124	43194124	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:43194124G>A	uc003ouo.2	-	2	223	c.206C>T	c.(205-207)GCT>GTT	p.A69V	C6orf108_uc003oup.2_Missense_Mutation_p.A69V	NM_006443	NP_006434	O43598	RCL_HUMAN	putative c-Myc-responsive isoform 1	69					cell proliferation|deoxyribonucleoside monophosphate catabolic process|positive regulation of cell growth	cytoplasm|nucleus	deoxyribonucleoside 5'-monophosphate N-glycosidase activity|nucleoside deoxyribosyltransferase activity				0			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0123)|OV - Ovarian serous cystadenocarcinoma(102;0.0531)			ACCCCCAGCAGCCTCTTCCCC	0.602												
DLK2	65989	broad.mit.edu	37	6	43418891	43418891	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:43418891T>A	uc003ova.2	-	6	747	c.538A>T	c.(538-540)ATG>TTG	p.M180L	DLK2_uc003ovb.2_Missense_Mutation_p.M180L	NM_023932	NP_076421	Q6UY11	DLK2_HUMAN	EGF-like-domain, multiple 9 precursor	180	Extracellular (Potential).|EGF-like 5; calcium-binding (Potential).					integral to membrane	calcium ion binding				0	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CAAGGCCGCATCAGGCAGTCA	0.592												
SLC35B2	347734	broad.mit.edu	37	6	44224191	44224191	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:44224191C>T	uc003oxd.2	-	3	384	c.248G>A	c.(247-249)GGC>GAC	p.G83D	SLC35B2_uc011dvt.1_Intron|SLC35B2_uc011dvu.1_Intron	NM_178148	NP_835361	Q8TB61	S35B2_HUMAN	solute carrier family 35, member B2	83					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			ovary(1)|central_nervous_system(1)	2	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGGCTCATTGCCAAACACACA	0.577												
MEP1A	4224	broad.mit.edu	37	6	46797161	46797161	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:46797161C>T	uc010jzh.1	+	10	1039	c.997C>T	c.(997-999)CGG>TGG	p.R333W	MEP1A_uc011dwg.1_Missense_Mutation_p.R55W|MEP1A_uc011dwh.1_Missense_Mutation_p.R361W|MEP1A_uc011dwi.1_Missense_Mutation_p.R233W	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	meprin A alpha precursor	333	Extracellular (Potential).|MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			pancreas(2)|ovary(1)	3			Lung(136;0.192)			ACTGGAGTCTCGGATTCTTTA	0.527												
MUT	4594	broad.mit.edu	37	6	49425419	49425419	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:49425419A>T	uc003ozg.3	-	3	993	c.738T>A	c.(736-738)TTT>TTA	p.F246L		NM_000255	NP_000246	P22033	MUTA_HUMAN	methylmalonyl Coenzyme A mutase precursor	246					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)	CTGTATATTCAAATATGTCAG	0.284												
DEFB114	245928	broad.mit.edu	37	6	49928136	49928136	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:49928136C>T	uc011dwp.1	-	2	79	c.79G>A	c.(79-81)GAT>AAT	p.D27N		NM_001037499	NP_001032588	Q30KQ6	DB114_HUMAN	beta-defensin 114 precursor	27					defense response to bacterium	extracellular region				ovary(1)	1	Lung NSC(77;0.042)					GTGCAACGATCAGCATTCACC	0.353												
PKHD1	5314	broad.mit.edu	37	6	51612919	51612919	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:51612919C>T	uc003pah.1	-	58	9771	c.9495G>A	c.(9493-9495)GTG>GTA	p.V3165V	PKHD1_uc010jzn.1_Silent_p.V1148V|PKHD1_uc003pai.2_Silent_p.V3165V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3165	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TCTCTATCTCCACGCTGTTCT	0.398												
PAQR8	85315	broad.mit.edu	37	6	52268246	52268246	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:52268246G>A	uc003pao.3	+	2	409	c.235G>A	c.(235-237)GTC>ATC	p.V79I		NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member	79	Helical; Name=1; (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding				0	Lung NSC(77;0.0875)					GGTGGTCAACGTCTGGACCCA	0.617												
BMP5	653	broad.mit.edu	37	6	55638912	55638912	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:55638912C>T	uc003pcq.2	-	4	1674	c.962G>A	c.(961-963)CGA>CAA	p.R321Q	BMP5_uc011dxf.1_Missense_Mutation_p.R321Q	NM_021073	NP_066551	P22003	BMP5_HUMAN	bone morphogenetic protein 5 preproprotein	321					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(2)	2	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTGATTTTTTCGTTTGTTGGC	0.478												
KHDRBS2	202559	broad.mit.edu	37	6	62687976	62687976	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:62687976C>T	uc003peg.2	-	4	725	c.478G>A	c.(478-480)GTT>ATT	p.V160I		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			skin(7)|ovary(3)|liver(1)	11				BRCA - Breast invasive adenocarcinoma(397;0.149)		CTTACAGGAACCAGGAATTTT	0.343												
EYS	346007	broad.mit.edu	37	6	66204602	66204602	+	Silent	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:66204602A>G	uc011dxu.1	-	4	1240	c.702T>C	c.(700-702)AAT>AAC	p.N234N	EYS_uc003peq.2_Silent_p.N234N|EYS_uc003per.1_Silent_p.N234N|EYS_uc010kaj.1_RNA	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	234	EGF-like 2.				response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6						GCTCATCCCAATTTTCTCTTT	0.323												
COL9A1	1297	broad.mit.edu	37	6	71009815	71009815	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:71009815A>G	uc003pfg.3	-	4	389	c.230T>C	c.(229-231)GTA>GCA	p.V77A		NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	77	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			ovary(4)	4						TGATCCCACTACTCTCTGGAT	0.358												
OGFRL1	79627	broad.mit.edu	37	6	71998699	71998699	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:71998699C>T	uc003pfx.1	+	1	223	c.60C>T	c.(58-60)GAC>GAT	p.D20D		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	20						membrane	receptor activity				0						AGGACTGCGACTCCACCTGGC	0.607												
IMPG1	3617	broad.mit.edu	37	6	76744488	76744488	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:76744488T>C	uc003pik.1	-	3	448	c.318A>G	c.(316-318)GTA>GTG	p.V106V		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	106					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				ATGCTTCCCATACTGCTTCCT	0.483												
TPBG	7162	broad.mit.edu	37	6	83074849	83074849	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:83074849G>A	uc003pjn.3	+	3	1107	c.171G>A	c.(169-171)CCG>CCA	p.P57P	TPBG_uc010kbj.2_Silent_p.P57P|TPBG_uc003pjo.2_Silent_p.P57P	NM_006670	NP_006661	Q13641	TPBG_HUMAN	trophoblast glycoprotein precursor	57	Extracellular (Potential).|LRRNT.				cell adhesion	integral to plasma membrane				central_nervous_system(1)	1		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		CCCAGCCCCCGCTGCCGGACC	0.552												
DOPEY1	23033	broad.mit.edu	37	6	83847420	83847420	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:83847420C>T	uc003pjs.1	+	21	3919	c.3659C>T	c.(3658-3660)TCT>TTT	p.S1220F	DOPEY1_uc011dyy.1_Missense_Mutation_p.S1211F|DOPEY1_uc010kbl.1_Missense_Mutation_p.S1211F|DOPEY1_uc003pjt.2_RNA	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	1220					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CTGTCTGTGTCTGCAGAGGGA	0.428												
MDN1	23195	broad.mit.edu	37	6	90405413	90405413	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:90405413C>T	uc003pnn.1	-	61	9798	c.9682G>A	c.(9682-9684)GGC>AGC	p.G3228S		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	3228					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGGAGCAAGCCGAGGCTCACC	0.592												
MDN1	23195	broad.mit.edu	37	6	90442374	90442374	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:90442374A>G	uc003pnn.1	-	34	4960	c.4844T>C	c.(4843-4845)ATG>ACG	p.M1615T		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	1615					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCCTCCCCCATTTTGTTCAT	0.463												
CASP8AP2	9994	broad.mit.edu	37	6	90575882	90575882	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:90575882G>A	uc003pnr.2	+	8	3069	c.2873G>A	c.(2872-2874)AGA>AAA	p.R958K	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.R958K|CASP8AP2_uc011dzz.1_Missense_Mutation_p.R958K	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	958					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)		TCCAAACGTAGAGTGTCAGCT	0.358												
CASP8AP2	9994	broad.mit.edu	37	6	90575909	90575909	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:90575909A>C	uc003pnr.2	+	8	3096	c.2900A>C	c.(2899-2901)AAG>ACG	p.K967T	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.K967T|CASP8AP2_uc011dzz.1_Missense_Mutation_p.K967T	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	967					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)		CGGAAGTCAAAGACTATCCCA	0.363												
CASP8AP2	9994	broad.mit.edu	37	6	90577011	90577011	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:90577011T>C	uc003pnr.2	+	8	4198	c.4002T>C	c.(4000-4002)AGT>AGC	p.S1334S	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Silent_p.S1334S|CASP8AP2_uc011dzz.1_Silent_p.S1334S	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	1334					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)		CTGAAAAAAGTGAGTGGGAGT	0.398												
GPR63	81491	broad.mit.edu	37	6	97247002	97247002	+	Silent	SNP	A	A	G	rs139651777	by1000genomes	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:97247002A>G	uc010kcl.2	-	3	1084	c.606T>C	c.(604-606)TCT>TCC	p.S202S	GPR63_uc003pou.2_Silent_p.S202S	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	202	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AAGTTGCCCAAGAAACTGCAA	0.463												
POU3F2	5454	broad.mit.edu	37	6	99283474	99283474	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:99283474C>T	uc003ppe.2	+	1	895	c.725C>T	c.(724-726)CCG>CTG	p.P242L		NM_005604	NP_005595	P20265	PO3F2_HUMAN	POU domain, class 3, transcription factor 2	242					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		ccgccgcccccgccgcccccg	0.637												
C6orf168	84553	broad.mit.edu	37	6	99797031	99797031	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:99797031G>T	uc003ppj.3	-	1	501	c.218C>A	c.(217-219)GCT>GAT	p.A73D		NM_032511	NP_115900	Q5TGI0	CF168_HUMAN	hypothetical protein LOC84553	73										ovary(2)|central_nervous_system(1)	3		all_cancers(76;1.63e-06)|Acute lymphoblastic leukemia(125;5.12e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00898)|Colorectal(196;0.0699)|Lung NSC(302;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.073)		GGCCAGCAAAGCTCCCCCGGT	0.617												
GPR6	2830	broad.mit.edu	37	6	110301082	110301082	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:110301082C>T	uc011eaw.1	+	2	947	c.767C>T	c.(766-768)GCG>GTG	p.A256V	GPR6_uc011eav.1_Missense_Mutation_p.A271V|GPR6_uc003ptu.2_Missense_Mutation_p.A256V	NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	256	Cytoplasmic (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)		TGGCGCCACGCGCACCAGATC	0.662												
KIAA1919	91749	broad.mit.edu	37	6	111588192	111588192	+	Missense_Mutation	SNP	C	C	T	rs141898273	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:111588192C>T	uc003puv.3	+	4	1849	c.1427C>T	c.(1426-1428)ACG>ATG	p.T476M		NM_153369	NP_699200	Q5TF39	NAGT1_HUMAN	sodium-dependent glucose transporter 1	476	Cytoplasmic (Potential).				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(3)	3		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		AGTAGTCTGACGGAGCCCACA	0.403												
REV3L	5980	broad.mit.edu	37	6	111672877	111672877	+	Splice_Site	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:111672877A>G	uc003puy.3	-	19	7623	c.7300_splice	c.e19+1	p.D2434_splice	REV3L_uc003pux.3_Splice_Site_p.D2356_splice|REV3L_uc003puz.3_Splice_Site_p.D2356_splice|REV3L_uc003pva.1_Splice_Site	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta						DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AATGACACATACCTGGCACCC	0.388								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
COL10A1	1300	broad.mit.edu	37	6	116442885	116442885	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:116442885C>T	uc003pwm.2	-	3	490	c.394G>A	c.(394-396)GCT>ACT	p.A132T	NT5DC1_uc003pwj.2_Intron|NT5DC1_uc003pwk.2_Intron|NT5DC1_uc003pwl.2_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	type X collagen alpha 1 precursor	132	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)	1		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GGTAGGCCAGCTGGTCCAACA	0.597												
ZUFSP	221302	broad.mit.edu	37	6	116968721	116968721	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:116968721G>A	uc003pxf.1	-	8	1615	c.1369C>T	c.(1369-1371)CGC>TGC	p.R457C	ZUFSP_uc010kef.1_Missense_Mutation_p.R261C	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	457						intracellular	zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		TCAAATAAGCGAGGGTGTGTA	0.353												
NMBR	4829	broad.mit.edu	37	6	142409697	142409697	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:142409697C>T	uc003qiu.2	-	1	240	c.99G>A	c.(97-99)TCG>TCA	p.S33S		NM_002511	NP_002502	P28336	NMBR_HUMAN	neuromedin B receptor	33	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			central_nervous_system(3)|breast(1)	4	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TGGTCCCGTCCGAGGCCGGCA	0.602												
PLEKHG1	57480	broad.mit.edu	37	6	151116993	151116993	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:151116993G>A	uc003qny.1	+	6	896	c.584G>A	c.(583-585)AGT>AAT	p.S195N	PLEKHG1_uc011eel.1_Missense_Mutation_p.S235N|PLEKHG1_uc011eem.1_Missense_Mutation_p.S254N|PLEKHG1_uc003qnz.2_Missense_Mutation_p.S195N	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	195	DH.				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)		TCCTTGCAGAGTGAAGAGTTC	0.348												
C6orf97	80129	broad.mit.edu	37	6	151939223	151939223	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:151939223A>G	uc003qol.2	+	11	2178	c.2089A>G	c.(2089-2091)AAA>GAA	p.K697E		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	697											0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)		TGCCTGCCTCAAAGATGTGAC	0.463												
SYNE1	23345	broad.mit.edu	37	6	152655285	152655285	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:152655285A>C	uc010kiw.2	-	77	13254	c.12652T>G	c.(12652-12654)TGG>GGG	p.W4218G	SYNE1_uc003qot.3_Missense_Mutation_p.W4147G|SYNE1_uc003qou.3_Missense_Mutation_p.W4218G|SYNE1_uc010kiz.2_5'UTR	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4218	Spectrin 11.|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)		AAATCGAGCCACTGATCATTT	0.398										HNSCC(10;0.0054)		
MTRF1L	54516	broad.mit.edu	37	6	153311082	153311082	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:153311082T>C	uc003qpi.3	-	7	1196	c.1091A>G	c.(1090-1092)AAG>AGG	p.K364R	MTRF1L_uc003qpl.3_3'UTR|MTRF1L_uc011efa.1_Missense_Mutation_p.K328R|MTRF1L_uc003qpj.3_Missense_Mutation_p.K222R|MTRF1L_uc003qpk.3_3'UTR	NM_019041	NP_061914	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor	364						mitochondrion	translation release factor activity, codon specific				0		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		GGCGTATTCCTTCAATGACTG	0.333												
SYNJ2	8871	broad.mit.edu	37	6	158487477	158487477	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:158487477G>A	uc003qqx.1	+	12	1602	c.1527G>A	c.(1525-1527)GTG>GTA	p.V509V	SYNJ2_uc011efm.1_RNA|SYNJ2_uc003qqw.1_Silent_p.V509V|SYNJ2_uc003qqy.1_Silent_p.V222V|SYNJ2_uc011efn.1_Silent_p.V437V|SYNJ2_uc010kjo.1_Silent_p.V458V|SYNJ2_uc003qqz.1_Silent_p.V126V	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	509	Catalytic (By similarity).						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TCCTGACAGTGACTCCCAGGA	0.498												
TULP4	56995	broad.mit.edu	37	6	158925097	158925097	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:158925097G>T	uc003qrf.2	+	13	5759	c.4402G>T	c.(4402-4404)GCC>TCC	p.A1468S	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	1468	TUB.				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)		GTACGTGATGGCCAACAAGCA	0.672												
TMEM181	57583	broad.mit.edu	37	6	159028323	159028323	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:159028323C>T	uc003qrm.3	+	8	1043	c.1032C>T	c.(1030-1032)GGC>GGT	p.G344G	TMEM181_uc010kjr.1_Silent_p.G175G	NM_020823	NP_065874	Q9P2C4	TM181_HUMAN	G protein-coupled receptor 178	344					pathogenesis	integral to membrane	toxin binding			ovary(2)|central_nervous_system(1)	3		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		GAGACTGGGGCATCGAGCAGA	0.468												
SLC22A3	6581	broad.mit.edu	37	6	160831880	160831880	+	Splice_Site	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:160831880T>C	uc003qti.2	+	5	1002	c.975_splice	c.e5+2	p.E325_splice	SLC22A3_uc011efx.1_Splice_Site	NM_021977	NP_068812	O75751	S22A3_HUMAN	solute carrier family 22 member 3							integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		TACTCAGAGGTAATTTCTTTC	0.343												
MAP3K4	4216	broad.mit.edu	37	6	161470750	161470750	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:161470750C>T	uc003qtn.2	+	3	1588	c.1446C>T	c.(1444-1446)TTC>TTT	p.F482F	MAP3K4_uc010kkc.1_Silent_p.F482F|MAP3K4_uc003qto.2_Silent_p.F482F|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	482					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ATAACAGCTTCGACATCCAGT	0.488												
PDE10A	10846	broad.mit.edu	37	6	165848819	165848819	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:165848819C>T	uc003qun.2	-	7	654	c.413G>A	c.(412-414)CGC>CAC	p.R138H	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.R68H|PDE10A_uc003quo.2_Missense_Mutation_p.R148H	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	138	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)|skin(2)	5		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	AGGGATGAGGCGGGGTTTTCC	0.488												
HEATR2	54919	broad.mit.edu	37	7	801405	801405	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:801405C>T	uc010krz.1	+	7	1506	c.1486C>T	c.(1486-1488)CGC>TGC	p.R496C	HEATR2_uc003siz.2_Missense_Mutation_p.R364C|HEATR2_uc003sja.2_5'Flank	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	496							protein binding			skin(1)	1		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CTACCTGGAGCGCCTGCTGCT	0.448												
RADIL	55698	broad.mit.edu	37	7	4855941	4855941	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:4855941C>T	uc003snj.1	-	8	2057	c.1884G>A	c.(1882-1884)GTG>GTA	p.V628V	RADIL_uc003sng.1_RNA|RADIL_uc003sni.1_Silent_p.V133V|RADIL_uc011jwc.1_Silent_p.V388V|RADIL_uc011jwd.1_RNA	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	628	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding			lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CCTCGGGGTGCACCTGCAGCT	0.677												
RADIL	55698	broad.mit.edu	37	7	4917581	4917581	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:4917581C>T	uc003snj.1	-	2	363	c.190G>A	c.(190-192)GTC>ATC	p.V64I	RADIL_uc003sng.1_RNA|RADIL_uc011jwd.1_RNA	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Rap GTPase interactor	64	Ras-associating.				cell adhesion|multicellular organismal development|signal transduction		protein binding			lung(2)|central_nervous_system(2)|pancreas(2)|breast(1)	7		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		ACCTTCAGGACACCAGGGGCC	0.657												
RSPH10B2	728194	broad.mit.edu	37	7	5966162	5966162	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:5966162A>G	uc003sph.1	-	21	2721	c.2450T>C	c.(2449-2451)TTG>TCG	p.L817S	RSPH10B2_uc003spg.1_3'UTR|RSPH10B2_uc010ktd.1_Missense_Mutation_p.L817S	NM_173565	NP_775836	B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B	817										ovary(1)|pancreas(1)|skin(1)	3						TTCCTCTCTCAAGATGAAGAT	0.463												
MEOX2	4223	broad.mit.edu	37	7	15725539	15725539	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:15725539G>T	uc003stc.2	-	1	770	c.489C>A	c.(487-489)AGC>AGA	p.S163R	MEOX2_uc011jxw.1_Missense_Mutation_p.S163R	NM_005924	NP_005915	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	163					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TCTTGCCGCCGCTTCGCTTCT	0.687												
TSPAN13	27075	broad.mit.edu	37	7	16817465	16817465	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:16817465C>T	uc003stq.2	+	4	597	c.355C>T	c.(355-357)CGA>TGA	p.R119*		NM_014399	NP_055214	O95857	TSN13_HUMAN	tetraspan NET-6	119	Extracellular (Potential).					integral to plasma membrane|membrane fraction				ovary(1)	1	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		GGCAAGTGCTCGAAATGACAT	0.388												
MACC1	346389	broad.mit.edu	37	7	20199428	20199428	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:20199428G>A	uc003sus.3	-	5	865	c.556C>T	c.(556-558)CGC>TGC	p.R186C	MACC1_uc010kug.2_Missense_Mutation_p.R186C	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	putative binding protein 7a5	186					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			ovary(2)|skin(1)	3						GCCAGCTGGCGTTGACTTAAC	0.473												
ABCB5	340273	broad.mit.edu	37	7	20782555	20782555	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:20782555G>A	uc003suw.3	+	16	2291	c.1745G>A	c.(1744-1746)CGC>CAC	p.R582H	ABCB5_uc010kuh.2_Missense_Mutation_p.R1027H	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	582	Cytoplasmic (Potential).|ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						TATCCATGTCGCCCAGATGTT	0.468												
FAM126A	84668	broad.mit.edu	37	7	23017933	23017933	+	Silent	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:23017933A>G	uc003svm.3	-	4	543	c.288T>C	c.(286-288)CAT>CAC	p.H96H	FAM126A_uc003svn.3_5'UTR|FAM126A_uc011jyr.1_Silent_p.H62H	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	96						cytoplasm|membrane	signal transducer activity			central_nervous_system(1)	1						ATCCACTGCTATGCACATTTC	0.388												
HOXA2	3199	broad.mit.edu	37	7	27141760	27141760	+	Silent	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:27141760T>G	uc003syh.2	-	1	635	c.360A>C	c.(358-360)GCA>GCC	p.A120A		NM_006735	NP_006726	O43364	HXA2_HUMAN	homeobox A2	120						nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						GGCcggtggctgcggcggtgg	0.493												
HOXA6	3203	broad.mit.edu	37	7	27187001	27187001	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:27187001A>G	uc003syo.1	-	1	368	c.368T>C	c.(367-369)CTC>CCC	p.L123P	uc003syp.1_Silent_p.G28G|HOXA6_uc003syq.1_RNA	NM_024014	NP_076919	P31267	HXA6_HUMAN	homeobox A6	123						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						TTCGTCATGGAGTGCTTTGCC	0.622												
JAZF1	221895	broad.mit.edu	37	7	27880399	27880399	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:27880399G>A	uc003szn.2	-	4	714	c.473C>T	c.(472-474)GCC>GTC	p.A158V	JAZF1_uc003szm.2_Missense_Mutation_p.A94V	NM_175061	NP_778231	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	158					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(131)	soft_tissue(98)|endometrium(33)	131						GCTGAGGATGGCTTCGGAGCT	0.537			T	SUZ12	endometrial stromal tumours							
GARS	2617	broad.mit.edu	37	7	30651771	30651771	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:30651771T>G	uc003tbm.2	+	8	1298	c.941T>G	c.(940-942)TTC>TGC	p.F314C		NM_002047	NP_002038	P41250	SYG_HUMAN	glycyl-tRNA synthetase	314					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			ovary(1)	1					Glycine(DB00145)	CTTTTGGAGTTCAACCAAGGA	0.398												
PDE1C	5137	broad.mit.edu	37	7	31876897	31876897	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:31876897G>A	uc003tcm.1	-	11	1569	c.1100C>T	c.(1099-1101)GCC>GTC	p.A367V	PDE1C_uc003tcn.1_Missense_Mutation_p.A367V|PDE1C_uc003tco.1_Missense_Mutation_p.A427V|PDE1C_uc003tcr.2_Missense_Mutation_p.A367V|PDE1C_uc003tcs.2_Missense_Mutation_p.A367V	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	367	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			AAGGGATAAGGCTTTTGGCTT	0.408												
PDE1C	5137	broad.mit.edu	37	7	31890287	31890287	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:31890287G>A	uc003tcm.1	-	8	1288	c.819C>T	c.(817-819)ACC>ACT	p.T273T	PDE1C_uc003tcn.1_Silent_p.T273T|PDE1C_uc003tco.1_Silent_p.T333T|PDE1C_uc003tcr.2_Silent_p.T273T|PDE1C_uc003tcs.2_Silent_p.T273T	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	273	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			TGGTGGTTCCGGTATGCTCGT	0.448												
RP9	6100	broad.mit.edu	37	7	33136917	33136917	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:33136917A>G	uc003tdm.2	-	4	389	c.371T>C	c.(370-372)ATC>ACC	p.I124T		NM_203288	NP_976033	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9	124	PIM1-binding (By similarity).				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding				0			GBM - Glioblastoma multiforme(11;0.0403)			GTTGCCTTTGATAAAGAAAGG	0.378												
STARD3NL	83930	broad.mit.edu	37	7	38247159	38247159	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:38247159C>T	uc003tfr.2	+	2	202	c.54C>T	c.(52-54)TCC>TCT	p.S18S	STARD3NL_uc003tfs.2_Silent_p.S18S|STARD3NL_uc003tft.2_Silent_p.S18S	NM_032016	NP_114405	O95772	MENTO_HUMAN	MLN64 N-terminal homolog	18	Cytoplasmic (Potential).					integral to membrane|late endosome membrane				ovary(1)	1						GCCAGAGCTCCCATGCTTCTC	0.512												
ZMIZ2	83637	broad.mit.edu	37	7	44806229	44806229	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:44806229T>C	uc003tlr.2	+	18	2745	c.2622T>C	c.(2620-2622)TCT>TCC	p.S874S	ZMIZ2_uc003tlq.2_Silent_p.S816S|ZMIZ2_uc003tls.2_Silent_p.S848S|ZMIZ2_uc003tlt.2_Silent_p.S497S|ZMIZ2_uc010kyj.2_Silent_p.S396S|ZMIZ2_uc003tlu.2_Silent_p.S155S|ZMIZ2_uc010kyk.1_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	874	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						CCAGCATGTCTGGAGCCGGGG	0.672												
IGFBP1	3484	broad.mit.edu	37	7	45928308	45928308	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:45928308G>T	uc003tnp.2	+	1	350	c.57G>T	c.(55-57)CAG>CAT	p.Q19H	IGFBP1_uc003tno.3_Missense_Mutation_p.Q19H|IGFBP1_uc010kyn.2_Missense_Mutation_p.Q19H	NM_000596	NP_000587	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	19						extracellular space	insulin-like growth factor binding			lung(1)	1						TGACTGTCCAGGTCGGCGTGA	0.706												
ABCA13	154664	broad.mit.edu	37	7	48318404	48318404	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:48318404C>A	uc003toq.2	+	18	7638	c.7613C>A	c.(7612-7614)ACA>AAA	p.T2538K	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2538					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						AAGATGTCCACAGTTTTTAAA	0.388												
COBL	23242	broad.mit.edu	37	7	51096673	51096673	+	Missense_Mutation	SNP	G	G	A	rs148352652	by1000genomes	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:51096673G>A	uc003tpr.3	-	10	2305	c.2120C>T	c.(2119-2121)ACG>ATG	p.T707M	COBL_uc003tps.2_Missense_Mutation_p.T764M|COBL_uc011kcl.1_Missense_Mutation_p.T707M|COBL_uc003tpp.3_Missense_Mutation_p.T493M|COBL_uc003tpq.3_Missense_Mutation_p.T648M|COBL_uc003tpo.3_Missense_Mutation_p.T249M	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	707										skin(3)|ovary(2)	5	Glioma(55;0.08)					GATTTTATACGTTGTGAGGCC	0.498												
POM121L12	285877	broad.mit.edu	37	7	53103605	53103605	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:53103605C>T	uc003tpz.2	+	1	257	c.241C>T	c.(241-243)CGG>TGG	p.R81W		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	81											0						CATCGAGGTGCGGCCCACCCA	0.711												
GTF2IRD1	9569	broad.mit.edu	37	7	73961459	73961459	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:73961459G>A	uc003uaq.2	+	17	2152	c.1759G>A	c.(1759-1761)GTC>ATC	p.V587I	GTF2IRD1_uc010lbq.2_Missense_Mutation_p.V619I|GTF2IRD1_uc003uap.2_Missense_Mutation_p.V587I|GTF2IRD1_uc003uar.1_Missense_Mutation_p.V587I	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	587	GTF2I-like 3.					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4						CTCGGAGCCCGTCAAGGTGCC	0.632												
CCDC146	57639	broad.mit.edu	37	7	76922503	76922503	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:76922503G>A	uc003uga.2	+	18	2777	c.2650G>A	c.(2650-2652)GCT>ACT	p.A884T	CCDC146_uc010ldp.2_Missense_Mutation_p.A598T|CCDC146_uc003ugc.2_Missense_Mutation_p.A221T	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	884										ovary(1)|central_nervous_system(1)	2		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				CTTGGCCATCGCTGAAAAGTC	0.453												
MAGI2	9863	broad.mit.edu	37	7	77824201	77824201	+	Nonsense_Mutation	SNP	A	A	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:77824201A>C	uc003ugx.2	-	12	2513	c.2259T>G	c.(2257-2259)TAT>TAG	p.Y753*	MAGI2_uc003ugy.2_Nonsense_Mutation_p.Y753*|MAGI2_uc010ldx.1_Nonsense_Mutation_p.Y362*|MAGI2_uc010ldy.1_Nonsense_Mutation_p.Y362*	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	753						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GCCTACTTTCATAAATGGCCC	0.478												
SEMA3A	10371	broad.mit.edu	37	7	83689835	83689835	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:83689835C>T	uc003uhz.2	-	5	808	c.493G>A	c.(493-495)GGC>AGC	p.G165S		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	165	Sema.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						TTCCCACGGCCGTTTTCAAAA	0.343												
COL1A2	1278	broad.mit.edu	37	7	94041396	94041396	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:94041396C>T	uc003ung.1	+	24	1838	c.1367C>T	c.(1366-1368)CCT>CTT	p.P456L	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	456					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCTGGTTCCCCTGGAAATATC	0.378										HNSCC(75;0.22)		
TRRAP	8295	broad.mit.edu	37	7	98497363	98497363	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:98497363T>C	uc003upp.2	+	10	982	c.773T>C	c.(772-774)ATT>ACT	p.I258T	TRRAP_uc011kis.1_Missense_Mutation_p.I258T|TRRAP_uc003upr.2_5'Flank	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	258					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATGAACACCATTGCCATTCAG	0.448												
TRRAP	8295	broad.mit.edu	37	7	98547362	98547362	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:98547362G>T	uc003upp.2	+	36	5221	c.5012G>T	c.(5011-5013)TGG>TTG	p.W1671L	TRRAP_uc011kis.1_Missense_Mutation_p.W1653L|TRRAP_uc003upr.2_Missense_Mutation_p.W1370L	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1671					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CGACGTGTGTGGGTGAGTGAG	0.522												
C7orf43	55262	broad.mit.edu	37	7	99754169	99754169	+	Silent	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:99754169C>A	uc003utr.2	-	8	1260	c.1080G>T	c.(1078-1080)CTG>CTT	p.L360L	C7orf43_uc010lgo.2_5'UTR|C7orf43_uc010lgp.2_5'UTR|C7orf43_uc011kjj.1_Silent_p.L128L|C7orf43_uc003uts.2_Silent_p.L91L	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN	hypothetical protein LOC55262	360											0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGACACTGGGCAGGCTAGGAG	0.577												
PILRA	29992	broad.mit.edu	37	7	99971837	99971837	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:99971837C>T	uc003uuo.1	+	2	447	c.235C>T	c.(235-237)CAG>TAG	p.Q79*	PILRA_uc011kjn.1_Nonsense_Mutation_p.Q79*|PILRA_uc011kjo.1_Nonsense_Mutation_p.Q79*|PILRA_uc003uup.1_Nonsense_Mutation_p.Q79*|PILRA_uc003uuq.1_Nonsense_Mutation_p.Q79*	NM_013439	NP_038467	Q9UKJ1	PILRA_HUMAN	paired immunoglobulin-like type 2 receptor alpha	79	Extracellular (Potential).|Ig-like V-type.				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTTCCACAGGCAGTCCTTCTA	0.552												
FBXO24	26261	broad.mit.edu	37	7	100198185	100198185	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:100198185C>A	uc003uvm.1	+	10	1699	c.1406C>A	c.(1405-1407)GCC>GAC	p.A469D	FBXO24_uc003uvn.1_Missense_Mutation_p.A107D|uc011kjy.1_Intron|FBXO24_uc011kjz.1_Missense_Mutation_p.A507D|FBXO24_uc011kka.1_Missense_Mutation_p.A457D|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.2_5'Flank|PCOLCE_uc010lhb.1_5'Flank	NM_033506	NP_277041	O75426	FBX24_HUMAN	F-box only protein 24 isoform 1	469						ubiquitin ligase complex	ubiquitin-protein ligase activity			ovary(3)|skin(1)	4	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCCCTCTGTGCCACCAGGGAG	0.642												
PSMC2	5701	broad.mit.edu	37	7	103004631	103004631	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:103004631C>T	uc003vbs.2	+	8	703	c.633C>T	c.(631-633)GGC>GGT	p.G211G	SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Silent_p.G74G	NM_002803	NP_002794	P35998	PRS7_HUMAN	proteasome 26S ATPase subunit 2	211					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						CTCCCAAGGGCGTGCTGCTCT	0.493												
RELN	5649	broad.mit.edu	37	7	103290771	103290771	+	Missense_Mutation	SNP	C	C	T	rs144078760		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:103290771C>T	uc003vca.2	-	16	2112	c.1952G>A	c.(1951-1953)CGC>CAC	p.R651H	RELN_uc010liz.2_Missense_Mutation_p.R651H	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	651					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)		TTGTCTCCAGCGAATCCTGGT	0.433												
NRCAM	4897	broad.mit.edu	37	7	107838532	107838532	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:107838532C>T	uc003vfb.2	-	14	1690	c.1219G>A	c.(1219-1221)GAC>AAC	p.D407N	NRCAM_uc003vfc.2_Missense_Mutation_p.D401N|NRCAM_uc011kmk.1_Missense_Mutation_p.D402N|NRCAM_uc003vfd.2_Missense_Mutation_p.D383N|NRCAM_uc003vfe.2_Missense_Mutation_p.D383N	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	407	Ig-like 4.|Extracellular (Potential).				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5						CTGCTGGGGTCATCAGGGGCA	0.328												
CFTR	1080	broad.mit.edu	37	7	117182086	117182086	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:117182086A>G	uc003vjd.2	+	9	1265	c.1133A>G	c.(1132-1134)CAA>CGA	p.Q378R	CFTR_uc011knq.1_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	378	Cytoplasmic (Potential).				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)	TTACAAAAGCAAGAATATAAG	0.294									Cystic_Fibrosis			
GRM8	2918	broad.mit.edu	37	7	126086333	126086333	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:126086333T>A	uc003vlr.2	-	9	2835	c.2524A>T	c.(2524-2526)ATT>TTT	p.I842F	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.I842F|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	842	Helical; Name=7; (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GGATGAAAAATTATAATATAA	0.418										HNSCC(24;0.065)		
LRRC4	64101	broad.mit.edu	37	7	127669905	127669905	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:127669905G>A	uc003vmk.2	-	2	926	c.789C>T	c.(787-789)GAC>GAT	p.D263D	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	263	Extracellular (Potential).|LRR 8.					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		AAGCCAGCCCGTCAAAAGCAT	0.547												
C7orf49	78996	broad.mit.edu	37	7	134851435	134851435	+	Silent	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:134851435G>T	uc003vsl.2	-	4	669	c.402C>A	c.(400-402)GCC>GCA	p.A134A	C7orf49_uc003vsh.2_Intron|C7orf49_uc003vsj.2_Silent_p.A105A|C7orf49_uc003vsk.2_RNA|C7orf49_uc003vsm.2_RNA|C7orf49_uc003vsn.2_Silent_p.A133A|C7orf49_uc003vso.2_Silent_p.A79A	NM_024033	NP_076938	Q9BWK5	MRI_HUMAN	modulator of retrovirus infection	134						cytoplasm				large_intestine(1)|ovary(1)	2						TCCTGCTACAGGCAGAGCTGG	0.577												
KIAA1549	57670	broad.mit.edu	37	7	138601984	138601984	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:138601984C>T	uc011kql.1	-	2	2437	c.2388G>A	c.(2386-2388)ACG>ACA	p.T796T	KIAA1549_uc003vuk.3_Silent_p.T746T|KIAA1549_uc011kqj.1_Silent_p.T796T	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	796						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						TTAAAATGGGCGTTGTGTGGA	0.512			O	BRAF	pilocytic astrocytoma							
ZC3HAV1	56829	broad.mit.edu	37	7	138758758	138758758	+	Silent	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:138758758A>G	uc003vun.2	-	7	2104	c.1716T>C	c.(1714-1716)TAT>TAC	p.Y572Y	ZC3HAV1_uc003vuo.2_Silent_p.Y33Y|ZC3HAV1_uc003vup.2_Silent_p.Y572Y	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	zinc finger antiviral protein isoform 1	572					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			ovary(1)	1						AATTGATTGTATAACTTCCTA	0.418												
BRAF	673	broad.mit.edu	37	7	140534520	140534520	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:140534520T>C	uc003vwc.3	-	3	454	c.393A>G	c.(391-393)CTA>CTG	p.L131L		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	131					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)	GAGATGAAGGTAGCACTGAAA	0.438		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			
TRPV6	55503	broad.mit.edu	37	7	142569632	142569632	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:142569632A>C	uc003wbx.1	-	15	2222	c.2006T>G	c.(2005-2007)CTG>CGG	p.L669R	TRPV6_uc003wbw.1_Missense_Mutation_p.L455R|TRPV6_uc010lou.1_Missense_Mutation_p.L540R	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	669	Cytoplasmic (Potential).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(2)	2	Melanoma(164;0.059)					GGGACAGCCCAGCTCTAGTTT	0.587												
EPHA1	2041	broad.mit.edu	37	7	143094660	143094660	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:143094660C>T	uc003wcz.2	-	9	1793	c.1706G>A	c.(1705-1707)CGG>CAG	p.R569Q		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	569	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GCACCTGGACCGGAAAACGAG	0.612												
OR2A7	401427	broad.mit.edu	37	7	143956655	143956655	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:143956655G>A	uc011kuc.1	-	1	67	c.67C>T	c.(67-69)CAG>TAG	p.Q23*	OR2A9P_uc003wec.1_Intron|OR2A7_uc003wef.2_3'UTR	NM_001005328	NP_001005328	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A,	23	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.14)					AGGAGCATCTGAATCCTTGGG	0.517												
CNTNAP2	26047	broad.mit.edu	37	7	146741142	146741142	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:146741142T>C	uc003weu.1	+	4	1062	c.546T>C	c.(544-546)TCT>TCC	p.S182S		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	182	Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATGGCTGTTCTTACTGTGAGT	0.348										HNSCC(39;0.1)		
ZNF746	155061	broad.mit.edu	37	7	149171850	149171850	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:149171850C>T	uc003wfw.2	-	7	1831	c.1560G>A	c.(1558-1560)ACG>ACA	p.T520T	ZNF746_uc010lpi.2_Silent_p.T521T	NM_152557	NP_689770	Q6NUN9	ZN746_HUMAN	zinc finger protein 746 isoform 2	520	C2H2-type 2.				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|breast(1)	3	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GCGCGGGGCGCGTGAAGCAAC	0.512												
WDR86	349136	broad.mit.edu	37	7	151082222	151082222	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:151082222T>C	uc003wkb.2	-	4	1263	c.814A>G	c.(814-816)ACG>GCG	p.T272A	WDR86_uc003wka.2_Missense_Mutation_p.T230A|WDR86_uc011kvk.1_Missense_Mutation_p.H293R|WDR86_uc003wkc.2_Intron	NM_198285	NP_938026	Q86TI4	WDR86_HUMAN	WD repeat domain 86	272	WD 6.										0			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGTGGGCCGTGAACGTGCGC	0.647												
GALNT11	63917	broad.mit.edu	37	7	151791543	151791543	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:151791543C>T	uc010lqg.1	+	2	461	c.231C>T	c.(229-231)GAC>GAT	p.D77D	GALNT11_uc011kvm.1_Intron|GALNT11_uc003wku.2_Silent_p.D77D|GALNT11_uc003wkv.1_Silent_p.D77D|GALNT11_uc011kvn.1_RNA	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	N-acetylgalactosaminyltransferase 11	77	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)		ACAAAATTGACGATGTGATAG	0.448												
MLL3	58508	broad.mit.edu	37	7	152008901	152008901	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:152008901C>A	uc003wla.2	-	5	940	c.721G>T	c.(721-723)GCC>TCC	p.A241S		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	241					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)		TCAAATAAGGCTTGGATATCA	0.378			N		medulloblastoma							
RBM33	155435	broad.mit.edu	37	7	155499646	155499646	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:155499646C>T	uc010lqk.1	+	7	1200	c.832C>T	c.(832-834)CGG>TGG	p.R278W	RBM33_uc011kvv.1_Missense_Mutation_p.R87W	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	278							nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		GCGGGGAGGACGGCGAGGAGG	0.582												
RBM33	155435	broad.mit.edu	37	7	155534589	155534589	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:155534589G>A	uc010lqk.1	+	13	2494	c.2126G>A	c.(2125-2127)CGT>CAT	p.R709H	RBM33_uc011kvv.1_Missense_Mutation_p.R518H	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	709							nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AGCAATTTGCGTGAATTACCC	0.507												
MNX1	3110	broad.mit.edu	37	7	156798351	156798351	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:156798351C>T	uc003wnd.1	-	3	1372	c.1069G>A	c.(1069-1071)GAG>AAG	p.E357K	MNX1_uc003wmz.2_Intron|MNX1_uc003wna.2_Intron|MNX1_uc010lqq.1_Missense_Mutation_p.E150K|MNX1_uc003wnc.1_Missense_Mutation_p.E145K|MNX1_uc010lqr.1_RNA	NM_005515	NP_005506	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1 isoform 1	357					humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCGTCCTCCTCGGGGTCACTG	0.726									Currarino_syndrome			
UBE3C	9690	broad.mit.edu	37	7	157046707	157046707	+	Silent	SNP	G	G	A	rs150266636	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:157046707G>A	uc010lqs.2	+	20	3066	c.2754G>A	c.(2752-2754)GCG>GCA	p.A918A	UBE3C_uc003wni.3_Silent_p.A281A	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	918	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(2)|large_intestine(1)	5		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		ACCGGATTGCGTACATCCACT	0.532												
NCAPG2	54892	broad.mit.edu	37	7	158443607	158443607	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:158443607G>A	uc003wnv.1	-	24	3137	c.2992C>T	c.(2992-2994)CAC>TAC	p.H998Y	NCAPG2_uc010lqu.1_Intron|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.H998Y|NCAPG2_uc011kwe.1_Missense_Mutation_p.H998Y|NCAPG2_uc011kwc.1_Intron|NCAPG2_uc011kwd.1_Missense_Mutation_p.H441Y	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	leucine zipper protein 5	998					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			ovary(1)|breast(1)|kidney(1)	3	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		GTGTCTGTGTGCCGAGACTGA	0.463												
NCAPG2	54892	broad.mit.edu	37	7	158447310	158447310	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:158447310C>T	uc003wnv.1	-	22	2868	c.2723G>A	c.(2722-2724)CGG>CAG	p.R908Q	NCAPG2_uc010lqu.1_Missense_Mutation_p.R700Q|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.R908Q|NCAPG2_uc011kwe.1_Missense_Mutation_p.R908Q|NCAPG2_uc011kwc.1_Missense_Mutation_p.R409Q|NCAPG2_uc011kwd.1_Missense_Mutation_p.R351Q	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	leucine zipper protein 5	908					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			ovary(1)|breast(1)|kidney(1)	3	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TCCAAGACTCCGCTGTAAGAG	0.458												
ZNF596	169270	broad.mit.edu	37	8	195439	195439	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:195439C>T	uc003wot.2	+	6	880	c.592C>T	c.(592-594)CGT>TGT	p.R198C	ZNF596_uc003wou.2_Missense_Mutation_p.R97C|ZNF596_uc003wov.2_Missense_Mutation_p.R198C|ZNF596_uc003wow.2_Missense_Mutation_p.R198C	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	zinc finger protein 596	198	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		ATTGGAATGTCGTGTGTGTGG	0.403												
ZNF596	169270	broad.mit.edu	37	8	195650	195650	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:195650G>A	uc003wot.2	+	6	1091	c.803G>A	c.(802-804)CGA>CAA	p.R268Q	ZNF596_uc003wou.2_Missense_Mutation_p.R167Q|ZNF596_uc003wov.2_Missense_Mutation_p.R268Q|ZNF596_uc003wow.2_Missense_Mutation_p.R268Q	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	zinc finger protein 596	268	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		AACCTTAGACGACATGAGATG	0.418												
ERICH1	157697	broad.mit.edu	37	8	623991	623991	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:623991T>C	uc003wph.2	-	4	426	c.361A>G	c.(361-363)AAA>GAA	p.K121E	ERICH1_uc011kwh.1_Missense_Mutation_p.K121E|ERICH1_uc003wpe.1_Missense_Mutation_p.K27E|ERICH1_uc003wpi.2_5'UTR	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN	glutamate-rich 1	121										large_intestine(2)	2		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TTAAATTTTTTCTTTGATTTA	0.333												
CSMD1	64478	broad.mit.edu	37	8	3253876	3253876	+	Silent	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:3253876G>T	uc011kwk.1	-	17	2826	c.2436C>A	c.(2434-2436)ACC>ACA	p.T812T	CSMD1_uc011kwj.1_Silent_p.T204T|CSMD1_uc003wqe.2_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	812	Extracellular (Potential).|CUB 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGACCTCCAAGGTGTCATAAT	0.522												
SGK223	157285	broad.mit.edu	37	8	8235193	8235193	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:8235193G>A	uc003wsh.3	-	2	726	c.726C>T	c.(724-726)TGC>TGT	p.C242C		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	242							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						CGGAGGGCGAGCACCTTTGAT	0.647												
PINX1	54984	broad.mit.edu	37	8	10623283	10623283	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:10623283C>T	uc003wth.2	-	7	648	c.615G>A	c.(613-615)ACG>ACA	p.T205T	SOX7_uc011kwz.1_Intron|PINX1_uc003wti.2_3'UTR	NM_017884	NP_060354	Q96BK5	PINX1_HUMAN	PIN2-interacting protein 1	205				T -> A (in Ref. 6; AAS19507).	mitotic metaphase plate congression|negative regulation of cell proliferation	chromosome, telomeric region|condensed chromosome kinetochore|mitochondrion|nuclear chromosome|nucleolus|spindle	protein binding|telomerase inhibitor activity|telomeric RNA binding			lung(1)|kidney(1)|skin(1)	3				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		GTTCCACCTGCGTCTCAGAAA	0.522												
XKR6	286046	broad.mit.edu	37	8	10755762	10755762	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:10755762C>T	uc003wtk.1	-	3	1653	c.1626G>A	c.(1624-1626)ACG>ACA	p.T542T		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	542						integral to membrane				ovary(1)|skin(1)	2				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CTCTGGTGGGCGTAACCTGGG	0.637												
CTSB	1508	broad.mit.edu	37	8	11710150	11710150	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:11710150T>C	uc003wum.2	-	5	505	c.181A>G	c.(181-183)ACC>GCC	p.T61A	CTSB_uc011kxl.1_Intron|CTSB_uc003wun.2_Missense_Mutation_p.T61A|CTSB_uc003wuo.2_Missense_Mutation_p.T61A|CTSB_uc003wup.2_Missense_Mutation_p.T61A|CTSB_uc003wuq.2_Missense_Mutation_p.T61A|CTSB_uc010lsc.2_5'UTR|CTSB_uc003wur.2_Missense_Mutation_p.T61A|CTSB_uc003wus.1_Missense_Mutation_p.T61A|CTSB_uc003wut.1_Missense_Mutation_p.T61A|CTSB_uc003wuu.2_5'Flank	NM_147780	NP_680090	P07858	CATB_HUMAN	cathepsin B preproprotein	61					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity				0	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		CCCAGGAAGGTACCACATAGC	0.602												
MSR1	4481	broad.mit.edu	37	8	16035397	16035397	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:16035397G>A	uc003wwz.2	-	2	299	c.101C>T	c.(100-102)CCG>CTG	p.P34L	MSR1_uc010lsu.2_Missense_Mutation_p.P52L|MSR1_uc003wxa.2_Missense_Mutation_p.P34L|MSR1_uc003wxb.2_Missense_Mutation_p.P34L|MSR1_uc011kxz.1_5'UTR	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	34	Cytoplasmic (Potential).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			ovary(1)	1				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTACTTACTCGGAGGAAGCAA	0.428												
SH2D4A	63898	broad.mit.edu	37	8	19252128	19252128	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:19252128C>A	uc003wzb.2	+	10	1676	c.1340C>A	c.(1339-1341)CCT>CAT	p.P447H	SH2D4A_uc011kym.1_Missense_Mutation_p.P402H|SH2D4A_uc003wzc.2_Missense_Mutation_p.P447H	NM_022071	NP_071354	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	447						cytoplasm|nucleus	protein binding				0				Colorectal(111;0.0732)		GACCAGCTGCCTGACTACCTG	0.552												
RHOBTB2	23221	broad.mit.edu	37	8	22865085	22865085	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:22865085C>T	uc003xcq.2	+	5	1864	c.1327C>T	c.(1327-1329)CGT>TGT	p.R443C	RHOBTB2_uc003xcp.2_Missense_Mutation_p.R465C|RHOBTB2_uc011kzp.1_Missense_Mutation_p.R450C|uc003xcr.2_RNA	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	443					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGAGAACGAGCGTGACCTCAT	0.562												
LOXL2	4017	broad.mit.edu	37	8	23159645	23159645	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:23159645G>A	uc003xdh.1	-	12	2367	c.2028C>T	c.(2026-2028)TTC>TTT	p.F676F	LOXL2_uc010lty.1_Silent_p.F215F	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	676	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CCTGATCGCCGAAGTTGGCAC	0.592												
NEFL	4747	broad.mit.edu	37	8	24813072	24813072	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:24813072C>T	uc003xee.2	-	1	1060	c.958G>A	c.(958-960)GAA>AAA	p.E320K		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	320	Rod.|Coil 2B.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|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)		CGGCATGCTTCGATTTCCAGG	0.647												
CHRNA2	1135	broad.mit.edu	37	8	27320707	27320707	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:27320707T>A	uc010lur.2	-	6	1862	c.1253A>T	c.(1252-1254)GAG>GTG	p.E418V	CHRNA2_uc011lal.1_Missense_Mutation_p.E403V|CHRNA2_uc010lus.2_Missense_Mutation_p.E220V	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha	418	Cytoplasmic.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(1)	1		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	GTCCTCCTCCTCCACCACCAC	0.657												
ESCO2	157570	broad.mit.edu	37	8	27657064	27657064	+	Missense_Mutation	SNP	C	C	T	rs151218995		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:27657064C>T	uc003xgg.2	+	10	1587	c.1504C>T	c.(1504-1506)CGT>TGT	p.R502C	ESCO2_uc010luy.1_RNA	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	establishment of cohesion 1 homolog 2	502					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			central_nervous_system(1)	1		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		GCAGGCATTTCGTGTCCTGTC	0.403									SC_Phocomelia_syndrome			
GSR	2936	broad.mit.edu	37	8	30541660	30541660	+	Silent	SNP	G	G	A	rs138286932	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:30541660G>A	uc003xih.1	-	10	1189	c.1098C>T	c.(1096-1098)AAC>AAT	p.N366N		NM_000637	NP_000628	P00390	GSHR_HUMAN	glutathione reductase precursor	366					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			ovary(2)|pancreas(2)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	TGCCTTTGACGTTGGTATTCT	0.453												
UNC5D	137970	broad.mit.edu	37	8	35583730	35583730	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:35583730G>A	uc003xjr.1	+	10	1692	c.1364G>A	c.(1363-1365)AGC>AAC	p.S455N	UNC5D_uc003xjs.1_Missense_Mutation_p.S450N|UNC5D_uc003xju.1_Missense_Mutation_p.S31N|UNC5D_uc003xjt.1_Missense_Mutation_p.S213N	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	455	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)		CGGACATACAGCGGACCCATC	0.493												
NKX6-3	157848	broad.mit.edu	37	8	41504832	41504832	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:41504832C>T	uc003xoa.2	-	1	47	c.43G>A	c.(43-45)GGG>AGG	p.G15R	NKX6-3_uc010lxa.1_Missense_Mutation_p.G15R	NM_152568	NP_689781	A6NJ46	NKX63_HUMAN	NK6 homeobox 3	Error:Variant_position_missing_in_A6NJ46_after_alignment						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(28;0.00541)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Esophageal squamous(32;0.0844)|Hepatocellular(245;0.154)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCCCAGGGCCCTGAGCAAAGC	0.672												
MYST3	7994	broad.mit.edu	37	8	41791029	41791029	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:41791029T>A	uc010lxb.2	-	18	5253	c.4709A>T	c.(4708-4710)GAC>GTC	p.D1570V	MYST3_uc010lxc.2_Missense_Mutation_p.D1570V|MYST3_uc003xon.3_Missense_Mutation_p.D1570V	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1570	Interaction with RUNX1-2.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			CATCGTGGAGTCGTAACTGCT	0.587												
SNTG1	54212	broad.mit.edu	37	8	51617256	51617256	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:51617256G>A	uc010lxy.1	+	17	1506	c.1135G>A	c.(1135-1137)GCC>ACC	p.A379T	SNTG1_uc003xqs.1_Missense_Mutation_p.A379T|SNTG1_uc010lxz.1_Missense_Mutation_p.A379T|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	379	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				AAGTGACCTCGCCCAGTGGGA	0.562												
PXDNL	137902	broad.mit.edu	37	8	52321999	52321999	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:52321999C>T	uc003xqu.3	-	17	2286	c.2185G>A	c.(2185-2187)GCC>ACC	p.A729T	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	729					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)				CCGTCGTGGGCGCGGTACTTC	0.672												
OPRK1	4986	broad.mit.edu	37	8	54147653	54147653	+	Silent	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:54147653T>G	uc003xrh.1	-	2	651	c.276A>C	c.(274-276)ACA>ACC	p.T92T	OPRK1_uc003xri.1_Silent_p.T92T|OPRK1_uc010lyc.1_Silent_p.T3T	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	92	Cytoplasmic (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	TGTTGGTTGCTGTCTTCATCT	0.383												
CLVS1	157807	broad.mit.edu	37	8	62371044	62371044	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:62371044A>G	uc003xuh.2	+	5	1244	c.920A>G	c.(919-921)CAC>CGC	p.H307R	CLVS1_uc003xui.2_RNA|CLVS1_uc010lyp.2_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	retinaldehyde binding protein 1-like 1	307					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			skin(4)|ovary(1)	5						AATGCAATGCACGTGAAGCAT	0.512												
BHLHE22	27319	broad.mit.edu	37	8	65494426	65494426	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:65494426C>T	uc003xvi.2	+	1	1613	c.1079C>T	c.(1078-1080)CCG>CTG	p.P360L	LOC401463_uc003xvh.2_5'UTR	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix domain containing, class	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						GCCTCCTGCCCGGAGAAGTGC	0.657												
ARFGEF1	10565	broad.mit.edu	37	8	68140340	68140340	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:68140340A>G	uc003xxo.1	-	25	3839	c.3449T>C	c.(3448-3450)GTG>GCG	p.V1150A	ARFGEF1_uc003xxl.1_Missense_Mutation_p.V604A|ARFGEF1_uc003xxn.1_Missense_Mutation_p.V133A	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1150					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)			ATCCATAGACACAGCACAGAG	0.338												
KCNB2	9312	broad.mit.edu	37	8	73480260	73480260	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:73480260T>C	uc003xzb.2	+	2	879	c.291T>C	c.(289-291)ACT>ACC	p.T97T		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	97	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			GAGCCTTCACTTCCATTTTAA	0.458												
LRRCC1	85444	broad.mit.edu	37	8	86019623	86019623	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:86019623A>C	uc003ycw.2	+	1	247	c.93A>C	c.(91-93)AAA>AAC	p.K31N	LRRCC1_uc010lzz.1_RNA|LRRCC1_uc010maa.1_5'UTR|LRRCC1_uc003ycx.2_Missense_Mutation_p.K7T|LRRCC1_uc003ycy.2_5'Flank	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	sodium channel associated protein 2 isoform a	31					cell division|mitosis	centriole|nucleus					0						TCATGGACAAAGGCTTGCAGA	0.542												
ESRP1	54845	broad.mit.edu	37	8	95658510	95658510	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:95658510T>C	uc003ygq.3	+	4	673	c.490T>C	c.(490-492)TAT>CAT	p.Y164H	ESRP1_uc003ygr.3_Missense_Mutation_p.Y164H|ESRP1_uc003ygs.3_Missense_Mutation_p.Y164H|ESRP1_uc003ygt.3_Missense_Mutation_p.Y164H|ESRP1_uc003ygu.3_Missense_Mutation_p.Y164H|ESRP1_uc003ygv.2_Missense_Mutation_p.Y4H|ESRP1_uc003ygw.2_Missense_Mutation_p.Y4H	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	RNA binding motif protein 35A isoform 1	164					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	prostate(4)	4						AATGACAGAGTGTATCCTTTA	0.328												
VPS13B	157680	broad.mit.edu	37	8	100791069	100791069	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:100791069A>G	uc003yiv.2	+	42	7775	c.7664A>G	c.(7663-7665)AAA>AGA	p.K2555R	VPS13B_uc003yiw.2_Missense_Mutation_p.K2530R	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	2555					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)			GCAGACTGTAAACTTCTAGAG	0.443												
KLF10	7071	broad.mit.edu	37	8	103662532	103662532	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:103662532G>A	uc011lhk.1	-	4	1425	c.1271C>T	c.(1270-1272)ACG>ATG	p.T424M	KLF10_uc011lhj.1_Missense_Mutation_p.T413M	NM_005655	NP_005646	Q13118	KLF10_HUMAN	Kruppel-like factor 10 isoform a	424					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			CTTCTCACCCGTGTGGGTTCG	0.517												
DCAF13	25879	broad.mit.edu	37	8	104427576	104427576	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:104427576A>C	uc003yln.2	+	1	635	c.358A>C	c.(358-360)AGT>CGT	p.S120R	SLC25A32_uc003yll.2_5'Flank|SLC25A32_uc011lhr.1_5'Flank|DCAF13_uc003ylm.1_5'UTR|DCAF13_uc003ylo.2_5'UTR	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	Error:Variant_position_missing_in_Q9NV06_after_alignment					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1						CGTGACTGGAAGTAGTCTGGG	0.627												
OXR1	55074	broad.mit.edu	37	8	107691458	107691458	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:107691458C>A	uc011lht.1	+	3	343	c.244C>A	c.(244-246)CTA>ATA	p.L82I	OXR1_uc003ymf.2_Missense_Mutation_p.L81I|OXR1_uc011lhu.1_Missense_Mutation_p.L74I|OXR1_uc010mcg.2_Intron|OXR1_uc003ymg.1_Missense_Mutation_p.L14I|OXR1_uc003ymi.1_5'UTR	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	oxidation resistance 1 isoform 1	82					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion					0			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AAAGAAGACCCTAGACAAGAA	0.348												
TNFRSF11B	4982	broad.mit.edu	37	8	119938851	119938851	+	Silent	SNP	G	G	A	rs150457771		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:119938851G>A	uc003yon.3	-	4	1022	c.699C>T	c.(697-699)AAC>AAT	p.N233N	TNFRSF11B_uc010mdc.1_RNA	NM_002546	NP_002537	O00300	TR11B_HUMAN	osteoprotegerin precursor	233	Death 1.				apoptosis|skeletal system development		cytokine activity|receptor activity			central_nervous_system(2)	2	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CACTCTCTGCGTTTACTTTGG	0.443												
KHDRBS3	10656	broad.mit.edu	37	8	136561083	136561083	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:136561083T>C	uc003yuv.2	+	4	805	c.411T>C	c.(409-411)CCT>CCC	p.P137P	KHDRBS3_uc003yuw.2_Silent_p.P137P	NM_006558	NP_006549	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal	137					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)			TTGCCCCACCTGCAGAAGCTT	0.398												
COL22A1	169044	broad.mit.edu	37	8	139606405	139606405	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:139606405C>T	uc003yvd.2	-	63	4917	c.4470G>A	c.(4468-4470)GCG>GCA	p.A1490A	COL22A1_uc011ljo.1_Silent_p.A770A	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1490	Pro-rich.|Gly-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACTTCATGTACGCCGGGGGCA	0.602										HNSCC(7;0.00092)		
ZNF696	79943	broad.mit.edu	37	8	144378753	144378753	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:144378753G>A	uc003yxy.3	+	3	1317	c.908G>A	c.(907-909)AGC>AAC	p.S303N		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	303	C2H2-type 7.				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)			CGCGCCTTCAGCCGCAGCTCC	0.736												
RHPN1	114822	broad.mit.edu	37	8	144458725	144458725	+	Silent	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:144458725G>T	uc003yyb.2	+	3	340	c.207G>T	c.(205-207)ACG>ACT	p.T69T		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	rhophilin 1	69	REM.				signal transduction	intracellular				large_intestine(1)	1	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			TGAGAGAGACGGTCGCCCTGG	0.667												
PLEC	5339	broad.mit.edu	37	8	144991783	144991783	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:144991783C>T	uc003zaf.1	-	32	12787	c.12617G>A	c.(12616-12618)CGC>CAC	p.R4206H	PLEC_uc003zab.1_Missense_Mutation_p.R4069H|PLEC_uc003zac.1_Missense_Mutation_p.R4073H|PLEC_uc003zad.2_Missense_Mutation_p.R4069H|PLEC_uc003zae.1_Missense_Mutation_p.R4037H|PLEC_uc003zag.1_Missense_Mutation_p.R4047H|PLEC_uc003zah.2_Missense_Mutation_p.R4055H|PLEC_uc003zaj.2_Missense_Mutation_p.R4096H	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4206	Plectin 25.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GAAGAGGCCGCGCTTGTAGGC	0.632												
PLEC	5339	broad.mit.edu	37	8	144991811	144991811	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:144991811G>A	uc003zaf.1	-	32	12759	c.12589C>T	c.(12589-12591)CGG>TGG	p.R4197W	PLEC_uc003zab.1_Missense_Mutation_p.R4060W|PLEC_uc003zac.1_Missense_Mutation_p.R4064W|PLEC_uc003zad.2_Missense_Mutation_p.R4060W|PLEC_uc003zae.1_Missense_Mutation_p.R4028W|PLEC_uc003zag.1_Missense_Mutation_p.R4038W|PLEC_uc003zah.2_Missense_Mutation_p.R4046W|PLEC_uc003zaj.2_Missense_Mutation_p.R4087W	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4197	Plectin 25.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						ACGGGCAGCCGGTGGCTCTCC	0.642												
SPATC1	375686	broad.mit.edu	37	8	145095791	145095791	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:145095791T>C	uc011lkw.1	+	3	1191	c.1089T>C	c.(1087-1089)CAT>CAC	p.H363H	SPATC1_uc011lkx.1_Silent_p.H363H	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	363										ovary(1)|central_nervous_system(1)	2	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGCCCCCCATCCCCCTTCCC	0.507												
OPLAH	26873	broad.mit.edu	37	8	145108142	145108142	+	Silent	SNP	G	G	A	rs146913583	by1000genomes	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:145108142G>A	uc003zar.3	-	20	2923	c.2841C>T	c.(2839-2841)GAC>GAT	p.D947D	OPLAH_uc003zas.1_Missense_Mutation_p.R222C	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	947							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CCTGCACCACGTCCAGGCCGT	0.647												
EXOSC4	54512	broad.mit.edu	37	8	145135325	145135325	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:145135325C>A	uc003zau.2	+	3	669	c.559C>A	c.(559-561)CTG>ATG	p.L187M	GPAA1_uc003zav.1_5'Flank|GPAA1_uc003zaw.1_5'Flank|GPAA1_uc003zax.2_5'Flank	NM_019037	NP_061910	Q9NPD3	EXOS4_HUMAN	exosome component 4	187					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGCTGGCCCTGGCCCTGCT	0.667												
SLC39A4	55630	broad.mit.edu	37	8	145641416	145641416	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:145641416C>T	uc003zcq.2	-	2	352	c.252G>A	c.(250-252)CCG>CCA	p.P84P	SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.2_5'Flank|SLC39A4_uc003zco.2_5'Flank|SLC39A4_uc003zcp.2_Silent_p.P59P	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter),	84	Extracellular (Potential).		P -> L (in AEZ; could be a polymorphism).			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)			GGACCGGGCCCGGGGGCAGCC	0.731												
GPT	2875	broad.mit.edu	37	8	145730035	145730035	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:145730035G>A	uc011lli.1	+	3	368	c.211G>A	c.(211-213)GCA>ACA	p.A71T	GPT_uc011llj.1_Missense_Mutation_p.A71T|GPT_uc003zdh.3_Missense_Mutation_p.A71T	NM_005309	NP_005300	P24298	ALAT1_HUMAN	glutamic pyruvate transaminase	71					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)|central_nervous_system(1)	2	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CATCGGGGACGCACAGGCTAT	0.672												
ZNF517	340385	broad.mit.edu	37	8	146033645	146033645	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:146033645C>T	uc003zed.1	+	5	1451	c.1344C>T	c.(1342-1344)GGC>GGT	p.G448G	ZNF517_uc010mgd.1_Silent_p.G354G|ZNF517_uc003zee.1_RNA|ZNF517_uc011llm.1_Silent_p.G354G|ZNF517_uc003zef.1_Intron	NM_213605	NP_998770	Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			TCCACAGCGGCGAGAGGCCAT	0.682												
KIAA2026	158358	broad.mit.edu	37	9	6007371	6007371	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:6007371C>T	uc003zjq.3	-	1	633	c.417G>A	c.(415-417)CTG>CTA	p.L139L		NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	139										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CCATCTGCAGCAGACACATGC	0.701												
RANBP6	26953	broad.mit.edu	37	9	6014724	6014724	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:6014724G>T	uc003zjr.2	-	1	895	c.884C>A	c.(883-885)TCT>TAT	p.S295Y	RANBP6_uc011lmf.1_Intron|RANBP6_uc003zjs.2_Intron	NM_012416	NP_036548	O60518	RNBP6_HUMAN	RAN binding protein 6	295					protein transport	cytoplasm|nucleus	binding			ovary(3)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		GGCAGTTTCAGACAAGGTCAC	0.403												
ADAMTSL1	92949	broad.mit.edu	37	9	18775831	18775831	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:18775831A>C	uc003zne.3	+	18	2615	c.2488A>C	c.(2488-2490)ACC>CCC	p.T830P		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	830	TSP type-1 7.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		TGTCAATTCCACCCTGTGCCC	0.562												
MLLT3	4300	broad.mit.edu	37	9	20414370	20414370	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:20414370G>A	uc003zoe.2	-	5	733	c.474C>T	c.(472-474)AGC>AGT	p.S158S	MLLT3_uc011lne.1_Silent_p.S126S|MLLT3_uc011lnf.1_Silent_p.S155S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Intron	NM_004529	NP_004520	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	158	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)		tgctgctgctgctgctactgc	0.139			T	MLL	ALL							
LINGO2	158038	broad.mit.edu	37	9	27950348	27950348	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:27950348G>A	uc003zqu.1	-	2	516	c.322C>T	c.(322-324)CGT>TGT	p.R108C	LINGO2_uc010mjf.1_Missense_Mutation_p.R108C|LINGO2_uc003zqv.1_Missense_Mutation_p.R108C	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	108	LRR 3.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CGGAGGGAACGCAGGTTAAAG	0.438												
NOL6	65083	broad.mit.edu	37	9	33466680	33466680	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:33466680C>T	uc003zsz.2	-	16	2079	c.1978G>A	c.(1978-1980)GTA>ATA	p.V660I	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Missense_Mutation_p.V657I|NOL6_uc011lob.1_Missense_Mutation_p.V608I|NOL6_uc003ztb.1_Missense_Mutation_p.V660I	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	660					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ACCGCCGCTACCAGGGCCTCC	0.622											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
UBAP2	55833	broad.mit.edu	37	9	33927924	33927924	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:33927924C>T	uc003ztq.1	-	20	2355	c.2242G>A	c.(2242-2244)GTC>ATC	p.V748I	UBAP2_uc011loc.1_Missense_Mutation_p.V657I|UBAP2_uc011lod.1_Missense_Mutation_p.V481I|UBAP2_uc011loe.1_Missense_Mutation_p.V503I|UBAP2_uc011lof.1_Missense_Mutation_p.V673I|UBAP2_uc011log.1_Silent_p.P671P|UBAP2_uc003ztn.1_5'UTR|UBAP2_uc003zto.1_5'UTR|UBAP2_uc003ztp.1_5'UTR	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	748										ovary(3)	3			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GAACTTGAGACGGAGGTCGCT	0.617												
VCP	7415	broad.mit.edu	37	9	35066769	35066769	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:35066769C>T	uc003zvy.2	-	4	737	c.348G>A	c.(346-348)GTG>GTA	p.V116V	VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_5'UTR|VCP_uc010mki.1_Silent_p.V71V	NM_007126	NP_009057	P55072	TERA_HUMAN	valosin-containing protein	116					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			upper_aerodigestive_tract(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CAATGGGCAGCACATGGATAC	0.512												
SPAG8	26206	broad.mit.edu	37	9	35811581	35811581	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:35811581G>A	uc003zye.2	-	2	577	c.462C>T	c.(460-462)GGC>GGT	p.G154G	SPAG8_uc003zyf.2_Silent_p.G71G|SPAG8_uc003zyg.2_Silent_p.G154G	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	sperm associated antigen 8 isoform 2	154	Gly-rich.					acrosomal vesicle|membrane				ovary(1)	1	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			cagagccatggccagcacctg	0.09												
RECK	8434	broad.mit.edu	37	9	36122901	36122901	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:36122901T>C	uc003zyv.2	+	21	2861	c.2775T>C	c.(2773-2775)CCT>CCC	p.P925P	RECK_uc003zyw.2_Silent_p.P797P|RECK_uc003zyx.2_RNA	NM_021111	NP_066934	O95980	RECK_HUMAN	RECK protein precursor	925						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)	3			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			CCCATGTCCCTCTCTCTGCCC	0.547												
SMC5	23137	broad.mit.edu	37	9	72933542	72933542	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:72933542C>T	uc004ahr.2	+	14	2036	c.1919C>T	c.(1918-1920)GCG>GTG	p.A640V	uc004ahs.1_5'Flank	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein	640	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3						CTAAAAGTAGCGCAGTTTCTC	0.333												
C9orf41	138199	broad.mit.edu	37	9	77614759	77614759	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:77614759T>C	uc004ajq.2	-	4	771	c.618A>G	c.(616-618)GTA>GTG	p.V206V	C9orf41_uc011lsi.1_Intron	NM_152420	NP_689633	Q8N4J0	CI041_HUMAN	hypothetical protein LOC138199	206										ovary(1)|skin(1)	2						CAGCACCAGGTACCAGAATAT	0.378												
FOXB2	442425	broad.mit.edu	37	9	79635218	79635218	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:79635218G>A	uc004ako.1	+	1	648	c.648G>A	c.(646-648)AAG>AAA	p.K216K		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	forkhead box B2	216					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						ACCCCGGCAAGATGCAGGAgg	0.527												
GNA14	9630	broad.mit.edu	37	9	80262613	80262613	+	Missense_Mutation	SNP	G	G	A	rs138686336	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:80262613G>A	uc004aku.2	-	1	620	c.97C>T	c.(97-99)CGC>TGC	p.R33C		NM_004297	NP_004288	O95837	GNA14_HUMAN	G alpha 14	33					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(2)	2						AGCTCACGGCGCGCGTCCTTC	0.662												
TLE4	7091	broad.mit.edu	37	9	82322068	82322068	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:82322068C>T	uc004ald.2	+	12	1795	c.946C>T	c.(946-948)CGT>TGT	p.R316C	TLE4_uc004alc.2_Intron|TLE4_uc010mpr.2_Intron|TLE4_uc004ale.2_Intron|TLE4_uc011lsq.1_Intron|TLE4_uc010mps.2_Intron|TLE4_uc004alf.2_Intron	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5						GAGTGAAACACGTCTTAGCGA	0.373												
RMI1	80010	broad.mit.edu	37	9	86616917	86616917	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:86616917T>G	uc004anq.3	+	3	1424	c.1016T>G	c.(1015-1017)TTG>TGG	p.L339W	RMI1_uc004anr.3_Missense_Mutation_p.L339W|RMI1_uc004anp.3_Missense_Mutation_p.L339W|RMI1_uc004ans.3_Missense_Mutation_p.L339W	NM_024945	NP_079221	Q9H9A7	RMI1_HUMAN	RMI1, RecQ mediated genome instability 1,	339					DNA replication	nucleus					0						TTGCAACCATTGACTTTTAAC	0.348												
GAS1	2619	broad.mit.edu	37	9	89560907	89560907	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:89560907T>C	uc004aox.3	-	1	1198	c.788A>G	c.(787-789)GAC>GGC	p.D263G	uc004aoy.2_5'Flank	NM_002048	NP_002039	P54826	GAS1_HUMAN	growth arrest-specific 1 precursor	263					cell cycle arrest|negative regulation of S phase of mitotic cell cycle	anchored to plasma membrane					0						ATCGTAGTAGTCGTCCAGGCC	0.721												
NXNL2	158046	broad.mit.edu	37	9	91150404	91150404	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:91150404G>T	uc011ltj.1	+	1	389	c.55G>T	c.(55-57)GAG>TAG	p.E19*	NXNL2_uc004aqa.2_Nonsense_Mutation_p.E19*	NM_001161625	NP_001155097	Q5VZ03	NXNL2_HUMAN	nucleoredoxin-like 2 isoform 1	19	Thioredoxin.										0						CGCGACGGTGGAGGCCGAGGC	0.682												
IPPK	64768	broad.mit.edu	37	9	95420958	95420958	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:95420958G>A	uc004asl.1	-	2	364	c.87C>T	c.(85-87)TGC>TGT	p.C29C		NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	29					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			ovary(2)	2						GCAGCACGACGCAGCGCTGTT	0.433												
WNK2	65268	broad.mit.edu	37	9	95992120	95992120	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:95992120C>T	uc004ati.1	+	2	824	c.824C>T	c.(823-825)ACG>ATG	p.T275M	WNK2_uc011lud.1_Missense_Mutation_p.T275M|WNK2_uc004atj.2_Missense_Mutation_p.T275M|WNK2_uc010mrc.1_Missense_Mutation_p.T275M|WNK2_uc010mrd.1_5'Flank	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	275	Protein kinase.				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						GTGCTGGTGACGGAGCTGATG	0.622												
NR4A3	8013	broad.mit.edu	37	9	102590786	102590786	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:102590786G>A	uc004baf.1	+	3	1191	c.462G>A	c.(460-462)GCG>GCA	p.A154A	NR4A3_uc004bae.2_Silent_p.A154A|NR4A3_uc004bag.1_Silent_p.A154A|NR4A3_uc004bai.2_Silent_p.A165A	NM_006981	NP_008912	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	154					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		EWSR1/NR4A3(140)|TAF15/NR4A3(33)	bone(173)	173		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				AGGCGGGGGCGTTATGGGACG	0.746			T	EWSR1	extraskeletal myxoid chondrosarcoma							
ABCA1	19	broad.mit.edu	37	9	107548643	107548643	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:107548643T>C	uc004bcl.2	-	48	6650	c.6337A>G	c.(6337-6339)AGG>GGG	p.R2113G	NIPSNAP3B_uc004bcj.1_RNA	NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	2113	ABC transporter 2.				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)	ATTGCCATCCTAGTGCAAAGA	0.388												
FKTN	2218	broad.mit.edu	37	9	108397398	108397398	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:108397398T>C	uc004bcr.2	+	11	1455	c.1239T>C	c.(1237-1239)TGT>TGC	p.C413C	FKTN_uc011lvx.1_Silent_p.C413C|FKTN_uc004bcs.2_Silent_p.C413C|FKTN_uc011lvy.1_3'UTR|FKTN_uc010mtm.2_Silent_p.C281C	NM_001079802	NP_001073270	O75072	FKTN_HUMAN	fukutin	413	Lumenal (Potential).				muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(2)|ovary(1)	3						ATGTACCCTGTGAAACCCTCG	0.473												
PALM2-AKAP2	445815	broad.mit.edu	37	9	112918719	112918719	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:112918719T>G	uc004bej.3	+	9	3296	c.3116T>G	c.(3115-3117)CTC>CGC	p.L1039R	PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.L1039R|AKAP2_uc011lwi.1_Missense_Mutation_p.L897R|AKAP2_uc004bem.2_Missense_Mutation_p.L897R|AKAP2_uc011lwj.1_Missense_Mutation_p.L808R|PALM2-AKAP2_uc004ben.2_Intron	NM_007203	NP_009134	Q9Y2D5	AKAP2_HUMAN	PALM2-AKAP2 protein isoform 1	808							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6						ATGCAGACCCTCATGGAAGAC	0.537												
TNC	3371	broad.mit.edu	37	9	117848521	117848521	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:117848521G>A	uc004bjj.3	-	3	1851	c.1489C>T	c.(1489-1491)CGG>TGG	p.R497W	TNC_uc010mvf.2_Missense_Mutation_p.R497W	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	497	EGF-like 11.|EGF-like 12.				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						TGGCGATCCCGGCAGTCTTCC	0.597												
CDK5RAP2	55755	broad.mit.edu	37	9	123234112	123234112	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:123234112C>T	uc004bkf.2	-	16	1953	c.1772G>A	c.(1771-1773)CGG>CAG	p.R591Q	CDK5RAP2_uc004bke.2_5'UTR|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.R591Q|CDK5RAP2_uc011lxw.1_5'UTR|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_5'UTR|CDK5RAP2_uc011lya.1_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.R591Q|CDK5RAP2_uc004bki.2_Missense_Mutation_p.R390Q	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	591					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						cagttgcttccgcagggcaaa	0.234												
PTGS1	5742	broad.mit.edu	37	9	125154645	125154645	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:125154645C>T	uc004bmg.1	+	11	1757	c.1622C>T	c.(1621-1623)CCG>CTG	p.P541L	PTGS1_uc011lys.1_Missense_Mutation_p.P479L|PTGS1_uc010mwb.1_Missense_Mutation_p.P395L|PTGS1_uc004bmf.1_Missense_Mutation_p.P504L|PTGS1_uc004bmh.1_Missense_Mutation_p.P432L|PTGS1_uc011lyt.1_Missense_Mutation_p.P432L	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	541					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)|skin(1)	2					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	ATCTGTTCTCCGGAGTACTGG	0.517												
NR6A1	2649	broad.mit.edu	37	9	127316774	127316774	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:127316774C>A	uc004bor.1	-	3	396	c.218G>T	c.(217-219)GGG>GTG	p.G73V	NR6A1_uc004boq.1_Missense_Mutation_p.G69V|NR6A1_uc010mwq.1_Missense_Mutation_p.G69V	NM_033334	NP_201591	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	73	Nuclear receptor.|NR C4-type.				cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						GGAGATGATCCCATAGTGCAA	0.483												
LMX1B	4010	broad.mit.edu	37	9	129377676	129377676	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:129377676C>T	uc004bqj.2	+	2	135	c.85C>T	c.(85-87)CAT>TAT	p.H29Y	LMX1B_uc004bqi.2_Missense_Mutation_p.H29Y|LMX1B_uc011maa.1_Missense_Mutation_p.H29Y	NM_002316	NP_002307	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	29					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CGACTGCCCGCATCCCGCCGT	0.736									Nail-Patella_Syndrome			
LMX1B	4010	broad.mit.edu	37	9	129377811	129377811	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:129377811C>T	uc004bqj.2	+	2	270	c.220C>T	c.(220-222)CGG>TGG	p.R74W	LMX1B_uc004bqi.2_Missense_Mutation_p.R74W|LMX1B_uc011maa.1_Missense_Mutation_p.R74W	NM_002316	NP_002307	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	74	LIM zinc-binding 1.				dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CTGCTACTTCCGGGATCGGAA	0.617									Nail-Patella_Syndrome			
ANGPTL2	23452	broad.mit.edu	37	9	129851253	129851253	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:129851253T>C	uc004bqr.1	-	5	1947	c.1447A>G	c.(1447-1449)ATG>GTG	p.M483V	RALGPS1_uc004bqo.1_Intron|RALGPS1_uc011mab.1_Intron|RALGPS1_uc011mac.1_Intron|RALGPS1_uc004bqq.3_Intron|ANGPTL2_uc010mxg.1_Missense_Mutation_p.M181V	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2 precursor	483	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding				0						CGGATCATCATCACCACTTTC	0.622												
GOLGA2	2801	broad.mit.edu	37	9	131019435	131019435	+	Missense_Mutation	SNP	G	G	A	rs141666208		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:131019435G>A	uc011maw.1	-	26	2933	c.2920C>T	c.(2920-2922)CGG>TGG	p.R974W	GOLGA2_uc010mxw.2_Missense_Mutation_p.R297W|GOLGA2_uc004buh.2_Missense_Mutation_p.R324W	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	974						Golgi cisterna membrane	protein binding			ovary(1)	1						GGGCGCTCCCGGGGGTTCTGC	0.582												
GOLGA2	2801	broad.mit.edu	37	9	131020362	131020362	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:131020362G>A	uc011maw.1	-	22	2337	c.2324C>T	c.(2323-2325)GCC>GTC	p.A775V	GOLGA2_uc010mxw.2_Missense_Mutation_p.A98V|GOLGA2_uc004buh.2_Missense_Mutation_p.A248V	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	775	Potential.					Golgi cisterna membrane	protein binding			ovary(1)	1						CTCCTTCTGGGCCGAGGCCAG	0.692												
PKN3	29941	broad.mit.edu	37	9	131477648	131477648	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:131477648G>A	uc004bvw.2	+	15	2110	c.1717G>A	c.(1717-1719)GTC>ATC	p.V573I	PKN3_uc010myh.2_Missense_Mutation_p.V573I|PKN3_uc011mbk.1_Missense_Mutation_p.V123I	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	protein kinase PKNbeta	573	ATP (By similarity).|Protein kinase.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			stomach(2)|lung(2)	4						CTGGCCCCAGGTCCTCCTGGT	0.607												
DOLK	22845	broad.mit.edu	37	9	131708405	131708405	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:131708405G>A	uc004bwr.2	-	1	1608	c.1178C>T	c.(1177-1179)TCC>TTC	p.S393F	NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN	dolichol kinase	393	Cytoplasmic (Potential).				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity				0						CAGAAAAAGGGACAGGAAGCT	0.542												
IER5L	389792	broad.mit.edu	37	9	131939119	131939119	+	Nonstop_Mutation	SNP	A	A	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:131939119A>T	uc010myt.1	-	1	1422	c.1213T>A	c.(1213-1215)TAG>AAG	p.*405K		NM_203434	NP_982258	Q5T953	IER5L_HUMAN	immediate early response 5-like	405											0		Ovarian(14;0.0448)|Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		GGGGGTCCCTAGAAGGCGACA	0.746												
PRRX2	51450	broad.mit.edu	37	9	132484621	132484621	+	Missense_Mutation	SNP	C	C	T	rs143523637		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:132484621C>T	uc004byh.2	+	4	979	c.752C>T	c.(751-753)ACG>ATG	p.T251M		NM_016307	NP_057391	Q99811	PRRX2_HUMAN	paired related homeobox 2	251						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1		Ovarian(14;0.00556)				CAGGTGCCTACGGTGAACTGA	0.622												
QRFP	347148	broad.mit.edu	37	9	133769184	133769184	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:133769184C>T	uc011mcb.1	-	1	42	c.42G>A	c.(40-42)CCG>CCA	p.P14P		NM_198180	NP_937823	P83859	OX26_HUMAN	RF(Arg-Phe)amide family 26 amino acid peptide	14					locomotory behavior|neuropeptide signaling pathway|positive regulation of blood pressure|regulation of feeding behavior	extracellular region	neuropeptide hormone activity|orexigenic neuropeptide QRFP receptor binding				0	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.17e-05)|Epithelial(140;0.000267)		AGGCGCCCAGCGGCAGGAAGA	0.632												
C9orf96	169436	broad.mit.edu	37	9	136268936	136268936	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:136268936G>T	uc004cdk.2	+	15	1648	c.1587G>T	c.(1585-1587)TGG>TGT	p.W529C	C9orf96_uc004cdl.2_RNA	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	hypothetical protein LOC169436	529							ATP binding|protein kinase activity			stomach(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GAGTCTTCTGGCTGCTGTCCC	0.682												
ADAMTS13	11093	broad.mit.edu	37	9	136321236	136321236	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:136321236T>C	uc004cdv.3	+	26	4058	c.3614T>C	c.(3613-3615)ATG>ACG	p.M1205T	ADAMTS13_uc004cdp.3_Missense_Mutation_p.M376T|ADAMTS13_uc004cdt.1_Missense_Mutation_p.M1149T|ADAMTS13_uc004cdu.1_Missense_Mutation_p.M1118T|ADAMTS13_uc004cdw.3_Missense_Mutation_p.M1149T|ADAMTS13_uc004cdx.3_Missense_Mutation_p.M1118T|ADAMTS13_uc004cdz.3_Missense_Mutation_p.M875T|ADAMTS13_uc004cea.1_Missense_Mutation_p.M1T|ADAMTS13_uc004ceb.3_Missense_Mutation_p.M1T	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1205	CUB 1.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ACCATTGACATGCGAGGCCCA	0.627												
KCNT1	57582	broad.mit.edu	37	9	138657549	138657549	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:138657549A>G	uc011mdq.1	+	13	1354	c.1280A>G	c.(1279-1281)CAG>CGG	p.Q427R	KCNT1_uc011mdr.1_Missense_Mutation_p.Q254R|KCNT1_uc010nbf.2_Missense_Mutation_p.Q382R|KCNT1_uc004cgo.1_Missense_Mutation_p.Q176R	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	427						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CTGTGGTCCCAGCGGGTCATC	0.642												
SEC16A	9919	broad.mit.edu	37	9	139354227	139354227	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:139354227T>C	uc004chx.2	-	15	5482	c.5173A>G	c.(5173-5175)ACC>GCC	p.T1725A	SEC16A_uc004chu.2_5'Flank|SEC16A_uc004chv.3_Missense_Mutation_p.T1115A|SEC16A_uc004chw.2_Missense_Mutation_p.T1725A|SEC16A_uc010nbn.2_Missense_Mutation_p.T1725A	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	1547					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TCGCCCATGGTAGCCATCGTC	0.592												
SEC16A	9919	broad.mit.edu	37	9	139361486	139361486	+	Silent	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:139361486G>T	uc004chx.2	-	6	4161	c.3852C>A	c.(3850-3852)CCC>CCA	p.P1284P	SEC16A_uc004chv.3_Silent_p.P674P|SEC16A_uc004chw.2_Silent_p.P1284P|SEC16A_uc010nbn.2_Silent_p.P1284P	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	1106	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CATAGGTGCGGGGGTCCCTGA	0.512												
NDOR1	27158	broad.mit.edu	37	9	140108803	140108803	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:140108803C>T	uc004clw.2	+	6	771	c.660C>T	c.(658-660)ACC>ACT	p.T220T	NDOR1_uc004clx.2_Silent_p.T220T|NDOR1_uc011mes.1_Silent_p.T220T|NDOR1_uc004cly.2_Silent_p.T186T	NM_014434	NP_055249	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	220	FAD-binding FR-type.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		AGAGAGTCACCGGCCCCTCCC	0.637												
PNPLA7	375775	broad.mit.edu	37	9	140379084	140379084	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:140379084G>T	uc004cnf.2	-	20	2564	c.2227C>A	c.(2227-2229)CTC>ATC	p.L743I	C9orf167_uc011mew.1_Intron|PNPLA7_uc004cnd.1_Missense_Mutation_p.L9I|PNPLA7_uc004cne.1_Missense_Mutation_p.L9I|PNPLA7_uc011mfa.1_Missense_Mutation_p.L151I|PNPLA7_uc010ncj.1_Missense_Mutation_p.L768I	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	743					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		AAGGCGGTGAGGGGCACTTCC	0.667												
MXRA5	25878	broad.mit.edu	37	X	3229371	3229371	+	Silent	SNP	C	C	T	rs141500951		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:3229371C>T	uc004crg.3	-	7	7030	c.6873G>A	c.(6871-6873)TCG>TCA	p.S2291S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2291	Ig-like C2-type 7.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGCTGTCATCCGACTGCATGA	0.572												
MXRA5	25878	broad.mit.edu	37	X	3235196	3235196	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:3235196G>T	uc004crg.3	-	6	6683	c.6526C>A	c.(6526-6528)CCG>ACG	p.P2176T		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2176	Ig-like C2-type 6.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGGATGCGCGGCCAGGGGTCC	0.677												
MXRA5	25878	broad.mit.edu	37	X	3235707	3235707	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:3235707G>A	uc004crg.3	-	6	6172	c.6015C>T	c.(6013-6015)CAC>CAT	p.H2005H		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2005	Ig-like C2-type 4.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCCGGTTTTCGTGCAGGGTGA	0.622												
PNPLA4	8228	broad.mit.edu	37	X	7870101	7870101	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:7870101G>A	uc011mhq.1	-	6	721	c.559C>T	c.(559-561)CGA>TGA	p.R187*	PNPLA4_uc011mhr.1_Nonsense_Mutation_p.R187*|PNPLA4_uc011mhs.1_Nonsense_Mutation_p.R100*	NM_004650	NP_004641	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	187					lipid catabolic process		triglyceride lipase activity				0		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				ATGTCCAGTCGTCCACTGAAG	0.512												
TBL1X	6907	broad.mit.edu	37	X	9660159	9660159	+	Silent	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:9660159A>G	uc010ndq.2	+	9	1124	c.756A>G	c.(754-756)GGA>GGG	p.G252G	TBL1X_uc004csq.3_Silent_p.G201G|TBL1X_uc010ndr.2_Silent_p.G201G|TBL1X_uc004csr.2_Silent_p.G252G|TBL1X_uc004css.2_Silent_p.G203G	NM_001139466	NP_001132938	O60907	TBL1X_HUMAN	transducin beta-like 1X isoform a	252	WD 1.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1		Hepatocellular(5;0.000888)				GTAGATCTGGAGACTCAACTG	0.522												
MID1	4281	broad.mit.edu	37	X	10427835	10427835	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:10427835G>A	uc004cte.3	-	8	1489	c.1298C>T	c.(1297-1299)TCG>TTG	p.S433L	MID1_uc004ctd.3_Missense_Mutation_p.S144L|MID1_uc004ctg.3_Missense_Mutation_p.S433L|MID1_uc004cth.3_Missense_Mutation_p.S395L|MID1_uc004ctk.3_Missense_Mutation_p.S433L|MID1_uc004cti.3_Missense_Mutation_p.S433L|MID1_uc004ctj.3_Missense_Mutation_p.S433L|MID1_uc011mie.1_RNA|MID1_uc004csz.3_Missense_Mutation_p.S105L|MID1_uc004cta.3_Missense_Mutation_p.S189L|MID1_uc004ctb.3_Missense_Mutation_p.S93L|MID1_uc004ctc.3_Missense_Mutation_p.S200L	NM_033290	NP_150632	O15344	TRI18_HUMAN	midline 1	433	Fibronectin type-III.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|pancreas(1)	3						GCTATCAGCCGAATTACACAG	0.453												
PRPS2	5634	broad.mit.edu	37	X	12809648	12809648	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:12809648C>T	uc004cvb.2	+	1	156	c.32C>T	c.(31-33)TCG>TTG	p.S11L	PRPS2_uc004cva.2_Missense_Mutation_p.S11L	NM_002765	NP_002756	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	11					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity				0						AGCGGCAGCTCGCATCAGGAC	0.478												
TLR8	51311	broad.mit.edu	37	X	12938574	12938574	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:12938574G>A	uc004cve.2	+	2	1483	c.1415G>A	c.(1414-1416)CGT>CAT	p.R472H	TLR8_uc004cvd.2_Missense_Mutation_p.R490H	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	472	Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7						CATTTCACCCGTCCTTTAATA	0.383												
GEMIN8	54960	broad.mit.edu	37	X	14038456	14038456	+	Silent	SNP	C	C	T	rs145346660		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:14038456C>T	uc004cwb.2	-	4	556	c.213G>A	c.(211-213)GCG>GCA	p.A71A	GEMIN8_uc004cwc.2_Silent_p.A71A|GEMIN8_uc004cwd.2_Silent_p.A71A	NM_017856	NP_060326	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	71					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding				0						ACTGAGGATACGCAGCCTCAT	0.493												
ZRSR2	8233	broad.mit.edu	37	X	15841310	15841310	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:15841310G>A	uc004cxg.3	+	11	1439	c.1394G>A	c.(1393-1395)GGC>GAC	p.G465D		NM_005089	NP_005080	Q15696	U2AFM_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 2	465	Arg/Ser-rich (RS domain).				spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)	3	Hepatocellular(33;0.183)					CGAAGTCGTGGCAGGAGGAGG	0.433												
GPR64	10149	broad.mit.edu	37	X	19045371	19045371	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:19045371T>C	uc004cyx.2	-	11	600	c.436A>G	c.(436-438)ACC>GCC	p.T146A	GPR64_uc004cyy.2_Missense_Mutation_p.T143A|GPR64_uc004cyz.2_Missense_Mutation_p.T132A|GPR64_uc004czb.2_Missense_Mutation_p.T146A|GPR64_uc004czc.2_Missense_Mutation_p.T130A|GPR64_uc004czd.2_Missense_Mutation_p.T122A|GPR64_uc004cze.2_Missense_Mutation_p.T116A|GPR64_uc004czf.2_Missense_Mutation_p.T108A|GPR64_uc004cza.2_Missense_Mutation_p.T124A|GPR64_uc004cyw.2_Missense_Mutation_p.T130A|GPR64_uc010nfj.2_Missense_Mutation_p.T116A	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	146	Extracellular (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)					CCAGTTAAGGTGCCATTCGTT	0.333												
PHEX	5251	broad.mit.edu	37	X	22051188	22051188	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:22051188C>T	uc004dah.2	+	1	268	c.65C>T	c.(64-66)GCC>GTC	p.A22V	PHEX_uc011mjr.1_Missense_Mutation_p.A22V	NM_000444	NP_000435	P78562	PHEX_HUMAN	phosphate-regulating neutral endopeptidase	22	Helical; Signal-anchor for type II membrane protein; (Potential).				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3						ACTCGAATTGCCCTGGTCGTG	0.562												
PTCHD1	139411	broad.mit.edu	37	X	23411550	23411550	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:23411550G>A	uc004dal.3	+	3	1923	c.1915G>A	c.(1915-1917)GAG>AAG	p.E639K		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	639					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)|skin(1)	6						ATACAATGATGAGGTCGATGT	0.393												
ACOT9	23597	broad.mit.edu	37	X	23722911	23722911	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:23722911C>T	uc004dap.2	-	14	1277	c.1131G>A	c.(1129-1131)GTG>GTA	p.V377V	ACOT9_uc004dan.2_Silent_p.V127V|ACOT9_uc004dao.2_Silent_p.V386V|ACOT9_uc004daq.2_Silent_p.V335V|ACOT9_uc004dar.2_Silent_p.V317V|ACOT9_uc011mjt.1_RNA|ACOT9_uc004das.2_Silent_p.V317V	NM_001033583	NP_001028755	Q9Y305	ACOT9_HUMAN	acyl-Coenzyme A thioesterase 2, mitochondrial	377					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			ovary(2)|pancreas(1)	3						GCAGGGAGGCCACTTCACTGT	0.398												
DMD	1756	broad.mit.edu	37	X	32490402	32490402	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:32490402C>T	uc004dda.1	-	22	3072	c.2828G>A	c.(2827-2829)CGC>CAC	p.R943H	DMD_uc004dcz.2_Missense_Mutation_p.R820H|DMD_uc004dcy.1_Missense_Mutation_p.R939H|DMD_uc004ddb.1_Missense_Mutation_p.R935H|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	943	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)				CTCCTGATAGCGCATTGGTGG	0.413												
FAM47A	158724	broad.mit.edu	37	X	34149740	34149740	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:34149740G>A	uc004ddg.2	-	1	689	c.656C>T	c.(655-657)CCG>CTG	p.P219L		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	219	Pro-rich.									ovary(4)|central_nervous_system(1)	5						ACTGGACACCGGAGTCTTGGG	0.657												
FAM47C	442444	broad.mit.edu	37	X	37027561	37027561	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:37027561G>T	uc004ddl.1	+	1	1092	c.1078G>T	c.(1078-1080)GAG>TAG	p.E360*		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	360										ovary(3)	3						GGAACCTCCAGAGACTCGCGT	0.637												
FAM47C	442444	broad.mit.edu	37	X	37028339	37028339	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:37028339G>A	uc004ddl.1	+	1	1870	c.1856G>A	c.(1855-1857)CGC>CAC	p.R619H		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	619										ovary(3)	3						TCTCATCTCCGCCCAGAGCCT	0.647												
CASK	8573	broad.mit.edu	37	X	41413004	41413004	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:41413004T>C	uc004dfl.3	-	21	2053	c.2007A>G	c.(2005-2007)GCA>GCG	p.A669A	CASK_uc004dfj.3_Silent_p.A209A|CASK_uc004dfk.3_Silent_p.A484A|CASK_uc004dfm.3_Silent_p.A646A|CASK_uc004dfn.3_Silent_p.A640A	NM_003688	NP_003679	O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein	669	SH3.				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						GAATGAGACCTGCAGTTCCAT	0.398												
MAOA	4128	broad.mit.edu	37	X	43603382	43603382	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:43603382C>T	uc004dfy.2	+	14	1582	c.1401C>T	c.(1399-1401)ACC>ACT	p.T467T	MAOA_uc011mkw.1_Silent_p.T334T	NM_000240	NP_000231	P21397	AOFA_HUMAN	monoamine oxidase A	467	Cytoplasmic.				behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			breast(2)|ovary(1)	3					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	GGAAGGTGACCGAGAAAGATA	0.428												
ARAF	369	broad.mit.edu	37	X	47424262	47424262	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:47424262G>A	uc011mlq.1	+	4	400	c.267G>A	c.(265-267)GAG>GAA	p.E89E	ARAF_uc011mln.1_RNA|ARAF_uc011mlo.1_5'UTR|ARAF_uc011mlp.1_Silent_p.E89E|ARAF_uc004dic.1_5'Flank	NM_001654	NP_001645	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene	89	RBD.				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			large_intestine(3)|lung(2)|ovary(1)|skin(1)	7					Adenosine triphosphate(DB00171)	TCATTGTCGAGGTCCTTGAAG	0.582												
SYN1	6853	broad.mit.edu	37	X	47464744	47464744	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:47464744G>A	uc004die.2	-	4	691	c.562C>T	c.(562-564)CAC>TAC	p.H188Y	SYN1_uc004did.2_Missense_Mutation_p.H188Y	NM_006950	NP_008881	P17600	SYN1_HUMAN	synapsin I isoform Ia	188	C; actin-binding and synaptic-vesicle binding.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			ovary(1)	1						CTGAAGGCGTGCTGGCGGATC	0.532												
WDR13	64743	broad.mit.edu	37	X	48458953	48458953	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:48458953A>G	uc004dkh.1	+	6	917	c.770A>G	c.(769-771)GAC>GGC	p.D257G	WDR13_uc010nif.1_Missense_Mutation_p.D135G|WDR13_uc004dki.1_Missense_Mutation_p.D165G|WDR13_uc004dkj.1_Missense_Mutation_p.D257G|WDR13_uc004dkk.1_Missense_Mutation_p.D165G|WDR13_uc004dkl.3_Missense_Mutation_p.D165G|WDR13_uc011mme.1_Missense_Mutation_p.D135G	NM_017883	NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13 protein	257						cytoplasm|nucleus				ovary(2)	2						GAGATCCCTGACCCCGATAGC	0.607												
CCDC120	90060	broad.mit.edu	37	X	48923103	48923103	+	Silent	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:48923103A>G	uc010nik.2	+	8	1308	c.801A>G	c.(799-801)CCA>CCG	p.P267P	CCDC120_uc011mmq.1_Silent_p.P255P|CCDC120_uc004dmf.2_Silent_p.P267P|CCDC120_uc010nil.2_Silent_p.P267P|CCDC120_uc011mmr.1_Silent_p.P267P|CCDC120_uc011mms.1_Silent_p.P255P	NM_033626	NP_296375	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120 isoform 3	267							protein binding			pancreas(1)	1						AACCACCTCCATCAGATCTTT	0.647												
CCDC120	90060	broad.mit.edu	37	X	48925339	48925339	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:48925339G>A	uc010nik.2	+	10	2091	c.1584G>A	c.(1582-1584)GTG>GTA	p.V528V	CCDC120_uc011mmq.1_Silent_p.V516V|CCDC120_uc004dmf.2_Silent_p.V528V|CCDC120_uc010nil.2_Silent_p.V528V|CCDC120_uc011mmr.1_Silent_p.V528V|CCDC120_uc011mms.1_Silent_p.V516V	NM_033626	NP_296375	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120 isoform 3	528	Pro-rich.						protein binding			pancreas(1)	1						GCCCTGAGGTGCATCCAAACC	0.677												
PPP1R3F	89801	broad.mit.edu	37	X	49127199	49127199	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:49127199C>T	uc004dnh.1	+	1	883	c.867C>T	c.(865-867)CCC>CCT	p.P289P	PPP1R3F_uc011mnd.1_5'UTR|PPP1R3F_uc004dni.2_Intron	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory (inhibitor)	289	Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	Ovarian(276;0.236)					GGATCGCACCCGCTCCCACAC	0.682												
DGKK	139189	broad.mit.edu	37	X	50125581	50125581	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:50125581A>G	uc010njr.1	-	18	2630	c.2570T>C	c.(2569-2571)GTC>GCC	p.V857A		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	857					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					GTTGTTCATGACACATTTTTC	0.408												
GSPT2	23708	broad.mit.edu	37	X	51487354	51487354	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:51487354A>C	uc004dpl.2	+	1	858	c.632A>C	c.(631-633)CAT>CCT	p.H211P		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	peptide chain release factor 3	211	GTP (By similarity).				cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			ovary(1)	1	Ovarian(276;0.236)					TTCATTGGCCATGTAGACGCT	0.398												
TSPYL2	64061	broad.mit.edu	37	X	53112184	53112184	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:53112184G>A	uc004drw.2	+	1	636	c.504G>A	c.(502-504)GCG>GCA	p.A168A	TSPYL2_uc004drv.2_Silent_p.A168A|TSPYL2_uc004drx.1_5'Flank	NM_022117	NP_071400	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	168					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding				0						AGGAAGAGGCGATCATCATAG	0.318												
KDM5C	8242	broad.mit.edu	37	X	53222406	53222406	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:53222406C>T	uc004drz.2	-	26	4959	c.4426G>A	c.(4426-4428)GAG>AAG	p.E1476K	KDM5C_uc011moc.1_Intron|KDM5C_uc011mod.1_Intron|KDM5C_uc004dsa.2_Missense_Mutation_p.E1475K|uc004dsb.1_Intron	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	1476					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						GGCTCTAGCTCCTCTCGGGCT	0.716			N|F|S		clear cell renal carcinoma							
IQSEC2	23096	broad.mit.edu	37	X	53284024	53284024	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:53284024C>T	uc004dsd.2	-	4	1290	c.1089G>A	c.(1087-1089)ATG>ATA	p.M363I	IQSEC2_uc004dsc.2_Missense_Mutation_p.M158I	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	353	IQ.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3						AGTTCTTGTTCATGCGGTACT	0.582												
FAM120C	54954	broad.mit.edu	37	X	54209086	54209086	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:54209086C>T	uc004dsz.3	-	1	629	c.546G>A	c.(544-546)GAG>GAA	p.E182E	FAM120C_uc011moh.1_Silent_p.E182E|FAM120C_uc004dta.2_Silent_p.E182E	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	hypothetical protein LOC54954	182										ovary(1)|central_nervous_system(1)	2						GACGGCCCCACTCGGCCAGCC	0.701												
FAM120C	54954	broad.mit.edu	37	X	54209092	54209092	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:54209092C>T	uc004dsz.3	-	1	623	c.540G>A	c.(538-540)CTG>CTA	p.L180L	FAM120C_uc011moh.1_Silent_p.L180L|FAM120C_uc004dta.2_Silent_p.L180L	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	hypothetical protein LOC54954	180										ovary(1)|central_nervous_system(1)	2						CCCACTCGGCCAGCCGGTCCT	0.701												
MTMR8	55613	broad.mit.edu	37	X	63555964	63555964	+	Silent	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:63555964G>T	uc004dvs.2	-	10	1214	c.1146C>A	c.(1144-1146)TCC>TCA	p.S382S	MTMR8_uc011mou.1_Intron|MTMR8_uc004dvt.1_Silent_p.S382S	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	382	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4						TTTACCTTTGGGAAAACTTGT	0.338												
AR	367	broad.mit.edu	37	X	66766584	66766584	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:66766584C>T	uc004dwu.1	+	1	2711	c.1596C>T	c.(1594-1596)TCC>TCT	p.S532S	AR_uc011mpd.1_Silent_p.S532S|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Silent_p.S532S	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	531	Modulating.				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)	ATAGCTACTCCGGACCTTACG	0.562									Androgen_Insensitivity_Syndrome			
OPHN1	4983	broad.mit.edu	37	X	67412807	67412807	+	Silent	SNP	A	A	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:67412807A>C	uc004dww.3	-	15	1524	c.1230T>G	c.(1228-1230)ACT>ACG	p.T410T	OPHN1_uc011mpg.1_Silent_p.T410T	NM_002547	NP_002538	O60890	OPHN1_HUMAN	oligophrenin 1	410	Rho-GAP.				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						TGCTGCCCACAGTGCGGTACA	0.398												
RAB41	347517	broad.mit.edu	37	X	69503872	69503872	+	Silent	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:69503872A>G	uc004dyc.2	+	6	528	c.528A>G	c.(526-528)AAA>AAG	p.K176K	RAB41_uc010nkv.2_Silent_p.K165K	NM_001032726	NP_001027898	Q5JT25	RAB41_HUMAN	RAB41, member RAS oncogene family	176					protein transport|small GTPase mediated signal transduction		GTP binding			ovary(2)|breast(2)	4						CCAGTGCCAAAACCGGTTACA	0.383												
DLG3	1741	broad.mit.edu	37	X	69669629	69669629	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:69669629C>A	uc004dyi.1	+	4	951	c.623C>A	c.(622-624)CCT>CAT	p.P208H	DLG3_uc004dyj.1_5'Flank	NM_021120	NP_066943	Q92796	DLG3_HUMAN	synapse-associated protein 102 isoform a	208	PDZ 1.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			large_intestine(1)|pancreas(1)	2	Renal(35;0.156)					GAGGCAGGCCCTGTGGTGCGA	0.642												
DLG3	1741	broad.mit.edu	37	X	69719839	69719839	+	Silent	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:69719839C>A	uc004dyi.1	+	16	2413	c.2085C>A	c.(2083-2085)GGC>GGA	p.G695G	DLG3_uc004dyj.1_Silent_p.G390G|DLG3_uc011mpn.1_Silent_p.G243G	NM_021120	NP_066943	Q92796	DLG3_HUMAN	synapse-associated protein 102 isoform a	695	Guanylate kinase-like.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			large_intestine(1)|pancreas(1)	2	Renal(35;0.156)					TCGAGGCGGGCCAATTTAATG	0.502												
NONO	4841	broad.mit.edu	37	X	70517705	70517705	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:70517705C>T	uc004dzo.2	+	10	1758	c.1048C>T	c.(1048-1050)CGC>TGC	p.R350C	BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.2_Missense_Mutation_p.R350C|NONO_uc004dzp.2_Missense_Mutation_p.R350C|NONO_uc011mpv.1_Missense_Mutation_p.R261C|NONO_uc004dzq.2_Missense_Mutation_p.R219C	NM_001145408	NP_001138880	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	350	Poly-Arg.|Potential.|DBHS.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	ovary(2)|kidney(2)	4	Renal(35;0.156)					AGAGCGCAGGCGCCGTGAAGA	0.512			T	TFE3	papillary renal cancer							
CXCR3	2833	broad.mit.edu	37	X	70836598	70836598	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:70836598G>A	uc004eaf.2	-	2	792	c.724C>T	c.(724-726)CTG>TTG	p.L242L	BCYRN1_uc011mpt.1_Intron|CXCR3_uc011mpx.1_Silent_p.L289L	NM_001504	NP_001495	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3 isoform A	242	Cytoplasmic (Potential).				cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			ovary(2)|central_nervous_system(1)	3	Renal(35;0.156)					GAAACCAGCAGCACGGCCAGG	0.682												
UPRT	139596	broad.mit.edu	37	X	74494453	74494453	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:74494453C>A	uc004ecb.1	+	1	493	c.364C>A	c.(364-366)CTA>ATA	p.L122I	UPRT_uc010nlu.1_Missense_Mutation_p.L122I|UPRT_uc004ecc.1_RNA|UPRT_uc004ecd.1_Missense_Mutation_p.L122I|UPRT_uc004ece.1_5'Flank	NM_145052	NP_659489	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog	122					nucleoside metabolic process	cytoplasm|nucleus					0						GATACGGGAGCTACAGACCAT	0.562												
MAGEE2	139599	broad.mit.edu	37	X	75004644	75004644	+	Silent	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:75004644C>T	uc004ecj.1	-	1	428	c.243G>A	c.(241-243)GCG>GCA	p.A81A		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	81										ovary(1)|skin(1)	2						GGACCCTGAGCGCCCCCAAAC	0.552												
MAGEE1	57692	broad.mit.edu	37	X	75649353	75649353	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:75649353G>A	uc004ecm.1	+	1	1237	c.1030G>A	c.(1030-1032)GTG>ATG	p.V344M		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	344	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						GAGCACCTCCGTGCCGCCCAC	0.682												
ATRX	546	broad.mit.edu	37	X	76920196	76920196	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:76920196T>C	uc004ecp.3	-	11	4113	c.3881A>G	c.(3880-3882)GAT>GGT	p.D1294G	ATRX_uc004ecq.3_Missense_Mutation_p.D1256G|ATRX_uc004eco.3_Missense_Mutation_p.D1079G|ATRX_uc004ecr.2_Missense_Mutation_p.D1226G	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1294					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)	TTCTGGCTCATCATCTGAAGA	0.353			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome					
HDX	139324	broad.mit.edu	37	X	83724232	83724232	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:83724232G>T	uc004eek.1	-	3	608	c.499C>A	c.(499-501)CTA>ATA	p.L167I	HDX_uc011mqv.1_Missense_Mutation_p.L167I|HDX_uc004eel.1_Missense_Mutation_p.L109I	NM_144657	NP_653258	Q7Z353	HDX_HUMAN	highly divergent homeobox	167						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)|ovary(1)	2						CCTAGGAGTAGGGAAGCATTT	0.358												
APOOL	139322	broad.mit.edu	37	X	84310876	84310876	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:84310876G>A	uc004eem.2	+	5	353	c.339G>A	c.(337-339)CCG>CCA	p.P113P	APOOL_uc010nmp.2_Intron	NM_198450	NP_940852	Q6UXV4	APOOL_HUMAN	apolipoprotein O-like precursor	113						extracellular region					0						ATTTTCTTCCGAAAATGGGAG	0.338												
POF1B	79983	broad.mit.edu	37	X	84600955	84600955	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:84600955G>T	uc004eer.2	-	6	780	c.634C>A	c.(634-636)CAA>AAA	p.Q212K	POF1B_uc004ees.2_Missense_Mutation_p.Q212K	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	212							actin binding				0						GCTTGGATTTGCTGGCTAGAA	0.458												
PABPC5	140886	broad.mit.edu	37	X	90690622	90690622	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:90690622C>T	uc004efg.2	+	2	486	c.46C>T	c.(46-48)CTC>TTC	p.L16F	PABPC5_uc004eff.1_Intron	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	16						cytoplasm	nucleotide binding|RNA binding			ovary(1)|lung(1)|pancreas(1)	3						AAAGAAGTATCTCAAGGCCGC	0.527												
TSPAN6	7105	broad.mit.edu	37	X	99891682	99891682	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:99891682G>T	uc004ega.1	-	1	113	c.10C>A	c.(10-12)CCG>ACG	p.P4T	TSPAN6_uc010nna.1_5'UTR	NM_003270	NP_003261	O43657	TSN6_HUMAN	transmembrane 4 superfamily member 6	4	Cytoplasmic (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			ovary(1)	1						CTCCGAGACGGGGACGCCATG	0.572												
TCEAL6	158931	broad.mit.edu	37	X	101396172	101396172	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:101396172G>A	uc004eiq.2	-	3	293	c.132C>T	c.(130-132)TGC>TGT	p.C44C		NM_001006938	NP_001006939	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	44	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1						gctttccctcgcattctgtct	0.184												
BHLHB9	80823	broad.mit.edu	37	X	102004814	102004814	+	Silent	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:102004814T>G	uc010nog.2	+	4	1462	c.891T>G	c.(889-891)CGT>CGG	p.R297R	BHLHB9_uc011mrq.1_Silent_p.R297R|BHLHB9_uc011mrr.1_Silent_p.R297R|BHLHB9_uc011mrs.1_Silent_p.R297R|BHLHB9_uc011mrt.1_Silent_p.R297R|BHLHB9_uc004ejo.2_Silent_p.R297R|BHLHB9_uc011mru.1_Silent_p.R297R|BHLHB9_uc011mrv.1_Silent_p.R297R	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class	297						cytoplasm|nucleus	binding			ovary(2)	2						AGATTAGACGTCAAATCAGGA	0.448												
PLP1	5354	broad.mit.edu	37	X	103041611	103041611	+	Missense_Mutation	SNP	C	C	T	rs132630295		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:103041611C>T	uc010nov.2	+	4	689	c.409C>T	c.(409-411)CGG>TGG	p.R137W	RAB9B_uc004eli.1_Intron|PLP1_uc004elk.2_Missense_Mutation_p.R137W|PLP1_uc004elj.2_Intron|PLP1_uc011msf.1_Missense_Mutation_p.R82W|PLP1_uc010now.1_Missense_Mutation_p.R141W|PLP1_uc010nox.2_Missense_Mutation_p.R91W	NM_001128834	NP_001122306	P60201	MYPR_HUMAN	proteolipid protein 1 isoform 1	137	Cytoplasmic (Probable).		R -> W (in SPG2).|Missing (in HLD1).		cell death|synaptic transmission	integral to membrane		p.R137W(1)		ovary(1)	1						TTCTTTGGAGCGGGTGTGTCA	0.552												
H2BFWT	158983	broad.mit.edu	37	X	103267881	103267881	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:103267881C>T	uc004elr.2	-	1	376	c.352G>A	c.(352-354)GCC>ACC	p.A118T		NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	118					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			ovary(1)	1						GCCTCGGTGGCGATGCGGTCC	0.647												
NRK	203447	broad.mit.edu	37	X	105152838	105152838	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:105152838A>C	uc004emd.2	+	13	1508	c.1205A>C	c.(1204-1206)CAG>CCG	p.Q402P	NRK_uc010npc.1_Missense_Mutation_p.Q70P	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	402	Gln-rich.						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						GAAGAGCCACAGGTCCAGGCA	0.577										HNSCC(51;0.14)		
GUCY2F	2986	broad.mit.edu	37	X	108636252	108636252	+	Silent	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:108636252A>G	uc004eod.3	-	13	2733	c.2457T>C	c.(2455-2457)AAT>AAC	p.N819N	GUCY2F_uc011msq.1_RNA	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	819	Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			lung(4)|breast(3)|central_nervous_system(1)	8						AATCAATAATATTGGTCTTCT	0.363												
AMMECR1	9949	broad.mit.edu	37	X	109441848	109441848	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:109441848T>C	uc004eoo.2	-	6	983	c.902A>G	c.(901-903)AAG>AGG	p.K301R	AMMECR1_uc004eop.2_Missense_Mutation_p.K264R|AMMECR1_uc004eoq.2_Missense_Mutation_p.K178R	NM_015365	NP_056180	Q9Y4X0	AMER1_HUMAN	AMMECR1 protein isoform 1	301	AMMECR1.										0						CAGGGTCATCTTTTCACTACG	0.373												
GLUD2	2747	broad.mit.edu	37	X	120181650	120181650	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:120181650G>A	uc004eto.2	+	1	189	c.112G>A	c.(112-114)GCC>ACC	p.A38T		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	38					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)	CGGACAGCCCGCCGCCGCCTC	0.756												
ELF4	2000	broad.mit.edu	37	X	129201411	129201411	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:129201411G>A	uc004evd.3	-	9	1662	c.1277C>T	c.(1276-1278)ACG>ATG	p.T426M	ELF4_uc004eve.3_Missense_Mutation_p.T426M	NM_001421	NP_001412	Q99607	ELF4_HUMAN	E74-like factor 4	426					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GGTCAGCACCGTGGTCAGTGG	0.592			T	ERG	AML							
MOSPD1	56180	broad.mit.edu	37	X	134025602	134025602	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:134025602G>T	uc004eyb.2	-	5	704	c.517C>A	c.(517-519)CTG>ATG	p.L173M	MOSPD1_uc004eya.2_Intron|MOSPD1_uc010nrv.2_RNA	NM_019556	NP_062456	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1	173	Helical; (Potential).				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	integral to membrane|nucleus|perinuclear region of cytoplasm	structural molecule activity			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(192;0.000127)					GGCAGCATCAGGGCTGCAATG	0.458												
DDX26B	203522	broad.mit.edu	37	X	134709114	134709114	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:134709114T>C	uc004eyw.3	+	13	2099	c.1736T>C	c.(1735-1737)CTG>CCG	p.L579P	DDX26B_uc004eyx.3_Missense_Mutation_p.L180P	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	579											0	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAAAAGACTGCATACTTTT	0.383												
MAP7D3	79649	broad.mit.edu	37	X	135314371	135314371	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:135314371C>T	uc004ezt.2	-	8	836	c.745G>A	c.(745-747)GTC>ATC	p.V249I	MAP7D3_uc004ezs.2_Missense_Mutation_p.V213I|MAP7D3_uc011mwc.1_Missense_Mutation_p.V231I|MAP7D3_uc010nsa.1_Intron	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	249						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)					TAATTGGTGACGCCTGTAACT	0.413												
GPR112	139378	broad.mit.edu	37	X	135405372	135405372	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:135405372G>A	uc004ezu.1	+	5	797	c.506G>A	c.(505-507)AGC>AAC	p.S169N	GPR112_uc010nsb.1_Intron	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	169	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					AATGAGAGCAGCGAGGTTAAA	0.443												
GPR112	139378	broad.mit.edu	37	X	135428617	135428617	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:135428617A>C	uc004ezu.1	+	6	3043	c.2752A>C	c.(2752-2754)ACC>CCC	p.T918P	GPR112_uc010nsb.1_Missense_Mutation_p.T713P|GPR112_uc010nsc.1_Missense_Mutation_p.T685P	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	918	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					ATTGGTGAAAACCACACCTAG	0.373												
GPR112	139378	broad.mit.edu	37	X	135431470	135431470	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:135431470A>G	uc004ezu.1	+	6	5896	c.5605A>G	c.(5605-5607)AGA>GGA	p.R1869G	GPR112_uc010nsb.1_Missense_Mutation_p.R1664G|GPR112_uc010nsc.1_Missense_Mutation_p.R1636G	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1869	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					TCTGGGAACAAGAATGACATC	0.423												
GPR101	83550	broad.mit.edu	37	X	136112734	136112734	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:136112734A>G	uc011mwh.1	-	1	1100	c.1100T>C	c.(1099-1101)GTC>GCC	p.V367A		NM_054021	NP_473362	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	367	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					CACTGCCTCGACGTCATCCTC	0.542												
ZIC3	7547	broad.mit.edu	37	X	136649262	136649262	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:136649262G>A	uc004fak.2	+	1	917	c.412G>A	c.(412-414)GGG>AGG	p.G138R		NM_003413	NP_003404	O60481	ZIC3_HUMAN	zinc finger protein of the cerebellum 3	138					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					CGGGCAGCACGGGCTCTTCGC	0.701												
MAGEC1	9947	broad.mit.edu	37	X	140995432	140995432	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:140995432T>A	uc004fbt.2	+	4	2528	c.2242T>A	c.(2242-2244)TCC>ACC	p.S748T	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	748							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTATCTGCTCCTCCTCCAC	0.567										HNSCC(15;0.026)		
AFF2	2334	broad.mit.edu	37	X	147743680	147743680	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:147743680G>A	uc004fcp.2	+	3	911	c.432G>A	c.(430-432)CTG>CTA	p.L144L	AFF2_uc004fco.2_Silent_p.L140L|AFF2_uc004fcq.2_Silent_p.L140L|AFF2_uc004fcr.2_Silent_p.L140L|AFF2_uc011mxb.1_Silent_p.L144L|AFF2_uc004fcs.2_Silent_p.L140L	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	144					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					TTGTGATACTGAATTCAACTC	0.443												
MTM1	4534	broad.mit.edu	37	X	149809853	149809853	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:149809853C>T	uc004fef.3	+	8	716	c.640C>T	c.(640-642)CGG>TGG	p.R214W	MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Missense_Mutation_p.R177W|MTM1_uc011mxz.1_Missense_Mutation_p.R99W|MTM1_uc010nte.2_Missense_Mutation_p.R82W	NM_000252	NP_000243	Q13496	MTM1_HUMAN	myotubularin	214	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TGATGACCTCCGGAGAGTTGC	0.423												
HMGB3	3149	broad.mit.edu	37	X	150156290	150156290	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:150156290C>T	uc004fep.2	+	5	598	c.506C>T	c.(505-507)GCA>GTA	p.A169V	HMGB3_uc004feq.2_3'UTR|HMGB3_uc004fer.2_Missense_Mutation_p.A169V	NM_005342	NP_005333	O15347	HMGB3_HUMAN	high-mobility group box 3	169					DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding				0	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGATGGTGCAAAGGGTCCT	0.284												
GPR50	9248	broad.mit.edu	37	X	150348782	150348782	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:150348782T>G	uc010ntg.1	+	2	862	c.727T>G	c.(727-729)TTC>GTC	p.F243V	uc004fes.1_5'Flank|GPR50_uc011myc.1_Intron	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	243	Helical; Name=6; (Potential).				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					GTTTGTGATCTTCCTCCTCTT	0.537												
CNGA2	1260	broad.mit.edu	37	X	150911720	150911720	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:150911720C>T	uc004fey.1	+	7	969	c.745C>T	c.(745-747)CGC>TGC	p.R249C		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	249	Extracellular (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GCGCTTCAACCGCCTGCTGCA	0.532												
MAGEA12	4111	broad.mit.edu	37	X	151899916	151899916	+	Silent	SNP	T	T	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:151899916T>C	uc010ntp.2	-	3	1239	c.885A>G	c.(883-885)GGA>GGG	p.G295G	MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Silent_p.G295G	NM_005367	NP_005358	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	295	MAGE.									skin(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					TGTGAGGTCCTCCACTGATCT	0.562												
PNMA5	114824	broad.mit.edu	37	X	152158876	152158876	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:152158876C>T	uc010ntw.2	-	3	1606	c.1267G>A	c.(1267-1269)GGG>AGG	p.G423R	PNMA5_uc004fha.3_Missense_Mutation_p.G423R|PNMA5_uc010ntx.2_Missense_Mutation_p.G423R|PNMA5_uc004fgy.3_Missense_Mutation_p.G423R	NM_001103151	NP_001096621	Q96PV4	PNMA5_HUMAN	paraneoplastic antigen like 5	423					apoptosis					ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)					GCCTGTGGCCCCTCCCTGCCT	0.602												
HAUS7	55559	broad.mit.edu	37	X	152721222	152721222	+	Silent	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:152721222G>A	uc004fho.1	-	8	1296	c.738C>T	c.(736-738)TAC>TAT	p.Y246Y	HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_Intron|HAUS7_uc004fhn.1_Silent_p.Y246Y|HAUS7_uc004fhp.1_Intron	NM_017518	NP_059988	Q99871	HAUS7_HUMAN	HAUS augmin-like complex subunit 7	246	Potential.				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding				0						GCTGTGCAAAGTACTGCAAAG	0.627												
ATP2B3	492	broad.mit.edu	37	X	152822455	152822455	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:152822455A>G	uc004fht.1	+	14	2533	c.2407A>G	c.(2407-2409)AAG>GAG	p.K803E	ATP2B3_uc004fhs.1_Missense_Mutation_p.K803E	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	803	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCGGCCCTCAAGAAGGCGGA	0.622												
AVPR2	554	broad.mit.edu	37	X	153171758	153171758	+	Silent	SNP	G	G	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:153171758G>T	uc004fjh.3	+	2	869	c.798G>T	c.(796-798)GTG>GTT	p.V266V	AVPR2_uc004fjg.3_Silent_p.V55V|AVPR2_uc004fji.2_Silent_p.V266V	NM_000054	NP_000045	P30518	V2R_HUMAN	arginine vasopressin receptor 2 isoform 1	266	Cytoplasmic (Potential).				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	CAGCAGCTGTGGCCAAGACTG	0.672												
TMEM187	8269	broad.mit.edu	37	X	153247849	153247849	+	Silent	SNP	G	G	A	rs145557117	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:153247849G>A	uc004fjq.2	+	2	870	c.336G>A	c.(334-336)GCG>GCA	p.A112A	hsa-mir-3202-2|MI0014253_5'Flank	NM_003492	NP_003483	Q14656	TM187_HUMAN	transmembrane protein 187	112						integral to membrane|transport vesicle					0	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCGTGCCGCGGTGCTGGACC	0.682												
VAMP7	6845	broad.mit.edu	37	X	155127786	155127786	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:155127786G>A	uc004fnr.2	+	4	389	c.215G>A	c.(214-216)CGT>CAT	p.R72H	VAMP7_uc004fnt.2_Missense_Mutation_p.R31H|VAMP7_uc011naa.1_Missense_Mutation_p.R33H|VAMP7_uc011nab.1_5'UTR|VAMP7_uc004fns.2_Missense_Mutation_p.R72H|VAMP7_uc011nac.1_Missense_Mutation_p.R5H	NM_005638	NP_005629	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7 isoform 1	72	Longin.|Cytoplasmic (Potential).				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GATTTTGAACGTTCCCGAGCC	0.368												
CYP2D6	1565	broad.mit.edu	37	22	42524948	42524949	+	Splice_Site	INS	-	-	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:42524948_42524949insG	uc003bce.2	-	4	596	c.506_splice	c.e4-1	p.G169_splice	uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Splice_Site|CYP2D6_uc003bcf.2_Splice_Site_p.G118_splice	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D,								electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			breast(1)|skin(1)	2						AGGGGCGTCCTGGGGGTGGGAG	0.668												
CEP350	9857	broad.mit.edu	37	1	179982981	179982981	+	Splice_Site	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:179982980_179982980AG>A	uc001gnt.3	+	10	1777	c.1394_splice	c.e10-2	p.G465_splice	CEP350_uc009wxl.2_Splice_Site_p.G464_splice|CEP350_uc001gnu.3_Splice_Site_p.G299_splice	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	465						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CATACTTTGCAGGGGGTCACA	0.358												
PSME4	23198	broad.mit.edu	37	2	54167140	54167140	+	Splice_Site	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAA	0.348												
RBM43	375287	broad.mit.edu	37	2	152112048	152112048	+	Splice_Site	DEL	T	T	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:152112047_152112047CT>C	uc002txh.3	-	2	362	c.214_splice	c.e2+1	p.V72_splice		NM_198557	NP_940959	Q6ZSC3	RBM43_HUMAN	Homo sapiens RNA binding motif protein 43 (RBM43), mRNA.	72	RRM.						RNA binding|nucleotide binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TTGGAAATACCTTTTTTTTCT	0.284												
PDZRN3	23024	broad.mit.edu	37	3	73437222	73437223	+	Splice_Site	INS	-	-	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:73437221_73437222C>CT	uc003dpl.1	-	8	1513	c.1417_splice	c.e8-1	p.I473_splice	PDZRN3_uc011bgh.1_Splice_Site_p.I130_splice|PDZRN3_uc010hoe.1_Splice_Site_p.I171_splice|PDZRN3_uc011bgf.1_Splice_Site_p.I190_splice|PDZRN3_uc011bgg.1_Splice_Site_p.I193_splice	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	473	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCCCATTAATCTTTTAAAAAAA	0.416												
UBA6	55236	broad.mit.edu	37	4	68530907	68530908	+	Splice_Site	INS	-	-	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:68530906_68530907C>CA	uc003hdg.4	-	10	949	c.897_splice	c.e10+1	p.F299_splice	UBA6_uc003hdi.3_Splice_Site_p.F299_splice|UBA6_uc003hdj.2_Splice_Site_p.F299_splice	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 6 (UBA6), mRNA.	299					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AAAATACTTACAAAAAAAACTG	0.322												
RNF145	153830	broad.mit.edu	37	5	158596066	158596066	+	Splice_Site	DEL	A	A	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:158596065_158596065TA>T	uc010jiq.2	-	8	1179	c.1029_splice	c.e8-1	p.R343_splice	RNF145_uc011ddy.2_Splice_Site_p.R327_splice|RNF145_uc003lxo.2_Splice_Site_p.R341_splice|RNF145_uc011ddz.2_Splice_Site_p.R330_splice|RNF145_uc003lxp.3_Splice_Site_p.R313_splice|RNF145_uc011dea.2_Intron	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	313						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCATGCCCCTAAAAAAAGCA	0.363												
NOX3	50508	broad.mit.edu	37	6	155761274	155761274	+	Splice_Site	DEL	A	A	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:155761273_155761273TA>T	uc003qqm.3	-	6	590	c.487_splice	c.e6-1	p.N163_splice		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	163	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GGTTGTGTTCTaaaaaaaaca	0.358												
COL5A1	1289	broad.mit.edu	37	9	137676834	137676834	+	Splice_Site	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:137676833_137676833AG>A	uc004cfe.3	+	30	2867	c.2485_splice	c.e30-2	p.G829_splice		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	829	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		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)		TCTGGCTTGCAGGGGGAGATC	0.632												
SLC16A9	220963	broad.mit.edu	37	10	61414350	61414350	+	Splice_Site	DEL	A	A	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:61414349_61414349TA>T	uc010qig.1	-	5	886	c.437_splice	c.e5-1	p.G146_splice		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	146					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CGCTTGAACCTAAAAAGGGAA	0.393												
ITGA11	22801	broad.mit.edu	37	15	68617582	68617582	+	Splice_Site	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:68617581_68617581TG>T	uc010bib.3	-	18	2299	c.2212_splice	c.e18-1	p.D738_splice	ITGA11_uc002ari.3_Splice_Site_p.D738_splice	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	738					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	AGCAGTGTCCTGGGGGGTGGA	0.582												
SRCAP	10847	broad.mit.edu	37	16	30745939	30745939	+	Splice_Site	DEL	A	A	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:30745938_30745938TA>T	uc002dze.1	+	31	7114	c.6729_splice	c.e31+2	p.Q2243_splice	SRCAP_uc002dzf.3_Splice_Site|SRCAP_uc002dzg.1_Splice_Site_p.Q2038_splice	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2243	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTGGAGCAGGTAAAAAAAGAG	0.473												
RFFL	117584	broad.mit.edu	37	17	33445634	33445645	+	Splice_Site	DEL	AGGGCCTGCCAA	AGGGCCTGCCAA	-	rs140317560	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:33445633_33445644CAGGGCCTGCCAA>C	uc002hir.2	-	3	401	c.145_splice	c.e3-1	p.A49_splice	RFFL_uc002hiq.2_Intron|RFFL_uc010wce.1_Splice_Site|RFFL_uc010wcd.1_Intron|RFFL_uc002hit.2_Intron|RFFL_uc002hiu.2_Intron|RFFL_uc002his.2_Intron|RFFL_uc010ctk.2_Splice_Site|RFFL_uc010wcf.1_Splice_Site|RFFL_uc002hiw.1_Splice_Site|RFFL_uc002hiv.1_Splice_Site|RFFL_uc010ctl.1_Splice_Site|RFFL_uc010ctm.1_Splice_Site|FNDC8_uc002hix.3_5'Flank	NM_002878	NP_002869	Q8WZ73	RFFL_HUMAN	Homo sapiens RAD51 homolog D (S. cerevisiae) (RAD51D), transcript variant 1, mRNA.	0					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TCAGGGCAACCAGGGCCTGCCAAAGGGCCCCA	0.575												
MYO9B	4650	broad.mit.edu	37	19	17322706	17322706	+	Splice_Site	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:17322705_17322705GC>G	uc010eak.3	+	40	6211	c.6059_splice	c.e40-1	p.G2020_splice	MYO9B_uc002nfi.3_Splice_Site|MYO9B_uc002nfm.1_3'UTR	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	2020	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TCTCAAAAGGGCCCCCTGCGC	0.706												
ISYNA1	51477	broad.mit.edu	37	19	18547690	18547690	+	Splice_Site	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:18547689_18547689TG>T	uc002njd.2	-	5	634	c.416_splice	c.e5-1	p.G139_splice	ISYNA1_uc002nja.2_Splice_Site_p.G11_splice|ISYNA1_uc002njb.2_5'UTR|ISYNA1_uc002njc.2_Splice_Site|ISYNA1_uc010xqh.2_Intron|ISYNA1_uc002nje.2_Splice_Site_p.G85_splice	NM_016368	NP_001164410	Q9NPH2	INO1_HUMAN	Homo sapiens inositol-3-phosphate synthase 1 (ISYNA1), transcript variant 1, mRNA.	139					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						TGTCCCAGCCTGGGGGGACCC	0.721												
ZNF43	7594	broad.mit.edu	37	19	22002026	22002026	+	Splice_Site	DEL	A	A	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACA	0.383												
AP2A1	160	broad.mit.edu	37	19	50304647	50304648	+	Splice_Site	INS	-	-	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:50304646_50304647G>GC	uc002ppn.3	+	13	1765	c.1554_splice	c.e13-1	p.S518_splice	AP2A1_uc010enj.1_Intron|AP2A1_uc002ppo.3_Splice_Site_p.S518_splice|AP2A1_uc002ppp.1_5'Flank	NM_014203	NP_055018	O95782	AP2A1_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 1 subunit (AP2A1), transcript variant 1, mRNA.	518					Golgi to endosome transport|axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CCTGCACACAGCCCCCCAGTGC	0.639												
ARID1A	8289	broad.mit.edu	37	1	27023769	27023769	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:27023769delC	uc001bmv.1	+	1	1248	c.875delC	c.(874-876)ACCfs	p.T292fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.T292fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.T292fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	292					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCACCGCCACCCCCACCCTC	0.761			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC							
MAP7D1	55700	broad.mit.edu	37	1	36644580	36644580	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:36644580delA	uc001bzz.2	+	12	2300	c.2084delA	c.(2083-2085)GAAfs	p.E695fs	MAP7D1_uc001caa.2_Frame_Shift_Del_p.E663fs|MAP7D1_uc001cab.2_Frame_Shift_Del_p.E658fs|MAP7D1_uc001cac.2_Frame_Shift_Del_p.E395fs|MAP7D1_uc001cad.2_Frame_Shift_Del_p.E232fs	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	695	Potential.					cytoplasm|spindle				ovary(3)|breast(2)	5		Myeloproliferative disorder(586;0.0393)				CTGGAGCGGGAAAAGCACTTC	0.677												
LEPREL2	10536	broad.mit.edu	37	12	6939061	6939063	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:6939061_6939063delCTT	uc001qra.1	+	4	571_573	c.537_539delCTT	c.(535-540)ACCTTC>ACC	p.F181del	LEPREL2_uc001qqz.1_5'UTR|LEPREL2_uc001qrb.1_5'UTR|GPR162_uc001qqy.1_In_Frame_Del_p.F116del	NM_014262	NP_055077	Q8IVL6	P3H3_HUMAN	leprecan-like 2 precursor	181	TPR 2.				negative regulation of cell proliferation	endoplasmic reticulum	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				0					L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CAGCACACACCTTCTTTGTAGCA	0.621											OREG0021637	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SIK1	150094	broad.mit.edu	37	21	44836942	44836942	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:44836942delG	uc002zdf.2	-	14	2159	c.2032delC	c.(2032-2034)CAGfs	p.Q678fs		NM_173354	NP_775490	P57059	SIK1_HUMAN	salt-inducible kinase 1	678					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(2)|testis(2)|ovary(1)|central_nervous_system(1)|skin(1)	7						GGGGCCGGCTGGGGGGCCTGG	0.736												
CYP2D6	1565	broad.mit.edu	37	22	42524948	42524949	+	Splice_Site	INS	-	-	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:42524948_42524949insG	uc003bce.2	-	4	596	c.506_splice	c.e4-1	p.G169_splice	uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Splice_Site|CYP2D6_uc003bcf.2_Splice_Site_p.G118_splice	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D,								electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			breast(1)|skin(1)	2						AGGGGCGTCCTGGGGGTGGGAG	0.668												
RABL2B	11158	broad.mit.edu	37	22	51207481	51207481	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:51207481delA	uc003bno.1	-	8	792	c.576delT	c.(574-576)TTTfs	p.F192fs	RPL23AP82_uc011asd.1_Intron|RPL23AP82_uc003bni.2_Intron|RABL2B_uc011ase.1_RNA|RABL2B_uc003bnm.1_Frame_Shift_Del_p.F202fs|RABL2B_uc011asf.1_Frame_Shift_Del_p.F193fs|RABL2B_uc003bnn.1_Frame_Shift_Del_p.F193fs|RABL2B_uc003bnk.1_Frame_Shift_Del_p.F193fs|RABL2B_uc011asg.1_Frame_Shift_Del_p.F193fs|RABL2B_uc003bnl.1_Frame_Shift_Del_p.F192fs|RABL2B_uc011ash.1_RNA	NM_001130922	NP_001124394	Q9UNT1	RBL2B_HUMAN	RAB, member of RAS oncogene family-like 2B	192					small GTPase mediated signal transduction		GTP binding|GTPase activity				0		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.0539)|LUAD - Lung adenocarcinoma(64;0.247)		CGAGCTCCTGAAAAATCTCAT	0.498												
BEND3	57673	broad.mit.edu	37	6	107391602	107391602	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:107391602delC	uc003prs.2	-	5	1443	c.793delG	c.(793-795)GACfs	p.D265fs		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	265	BEN 1.									ovary(3)	3						CAGGCCAGGTCCCCCCCTGAC	0.652												
RNF208	727800	broad.mit.edu	37	9	140115423	140115424	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:140115423_140115424insC	uc004clz.1	-	1	352_353	c.241_242insG	c.(241-243)GACfs	p.D81fs		NM_031297	NP_112587	Q9H0X6	RN208_HUMAN	ring finger protein 208	81							zinc ion binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GGCAGGCATGTCCCCCCCACAG	0.688												
BCORL1	63035	broad.mit.edu	37	X	129147854	129147854	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:129147854delC	uc004evb.1	+	4	1220	c.1106delC	c.(1105-1107)ACCfs	p.T369fs	BCORL1_uc010nrd.1_Frame_Shift_Del_p.T271fs	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	369	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						ccaccttctacccccaccctc	0.000												
CDK11B	984	broad.mit.edu	37	1	1635530	1635530	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:1635529_1635529CG>C	uc009vks.3	-	15	1851	c.1743_1743CG>G	c.(1741-1743)ccgfs	p.P581fs	CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.4_Intron|CDK11B_uc001ahj.4_Frame_Shift_Del_p.P88fs|CDK11B_uc009vkp.3_Frame_Shift_Del_p.P198fs|CDK11B_uc009vkq.3_Intron|CDK11B_uc009vkr.3_Frame_Shift_Del_p.P571fs	NM_024011	NP_076916	P21127	CD11B_HUMAN	Homo sapiens cyclin-dependent kinase 11A (CDK11A), transcript variant 1, mRNA.	596	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						TCACCACGACCGGGGTGTAGG	0.677												
PHF13	148479	broad.mit.edu	37	1	6680128	6680128	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:6680127_6680127AG>A	uc001aob.4	+	2	777	c.406_406AG>A	c.(406-408)aggfs	p.R136fs		NM_153812	NP_722519	Q86YI8	PHF13_HUMAN	Homo sapiens PHD finger protein 13 (PHF13), mRNA.	136					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		AGAGGGGTACAGGGGGGGCTT	0.602												
EIF4G3	8672	broad.mit.edu	37	1	21226332	21226332	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:21226331_21226331CT>C	uc001bec.3	-	10	1946	c.1690_1690AG>G	c.(1690-1692)gtgfs	p.V564fs	EIF4G3_uc010odi.2_Frame_Shift_Del_p.V168fs|EIF4G3_uc010odj.2_Frame_Shift_Del_p.V563fs|EIF4G3_uc009vpz.3_Frame_Shift_Del_p.V284fs|EIF4G3_uc001bef.3_Frame_Shift_Del_p.V563fs|EIF4G3_uc001bee.3_Frame_Shift_Del_p.V570fs	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	564					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ACAGCTTTCACTTTTTTTAGG	0.438												
ARID1A	8289	broad.mit.edu	37	1	27106804	27106804	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:27106803_27106803AC>A	uc001bmv.1	+	19	6787	c.6414_6414AC>A	c.(6412-6414)acafs	p.T2138fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.T1921fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.T984fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.T466fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.T380fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	2138					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTCTGGCCACACCCCCCTTCA	0.587			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
YTHDF2	51441	broad.mit.edu	37	1	29069013	29069013	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:29069012_29069012CG>C	uc021okf.1	+	4	493	c.230_230CG>C	c.(229-231)acgfs	p.T77fs	YTHDF2_uc001brc.3_Frame_Shift_Del_p.T77fs|YTHDF2_uc010ofx.2_Frame_Shift_Del_p.T27fs|YTHDF2_uc001bre.3_Frame_Shift_Del_p.T27fs	NM_001173128	NP_001166299	Q9Y5A9	YTHD2_HUMAN	Homo sapiens YTH domain family, member 2 (YTHDF2), transcript variant 2, mRNA.	77					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTGGTCTACGGGGGGTGAC	0.502												
HIVEP3	59269	broad.mit.edu	37	1	41979244	41979244	+	Frame_Shift_Del	DEL	G	G	-	rs150644975	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:41979243_41979243CG>C	uc001cgz.4	-	7	6862	c.5649_5649CG>G	c.(5647-5649)ccgfs	p.P1883fs	HIVEP3_uc001cha.4_Frame_Shift_Del_p.P1883fs|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1883					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GTGGGCCAGGCGGGGGCGCCT	0.657												
PODN	127435	broad.mit.edu	37	1	53543377	53543377	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:53543376_53543376TC>T	uc001cuv.3	+	6	1070	c.902_902TC>T	c.(901-903)atcfs	p.I301fs	PODN_uc010onr.2_Frame_Shift_Del_p.I282fs|PODN_uc010ons.2_Frame_Shift_Del_p.I159fs|PODN_uc001cuw.3_Frame_Shift_Del_p.I282fs	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	253					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTGGAGAAGATCCCCCCGGGG	0.617												
FGGY	55277	broad.mit.edu	37	1	59812017	59812018	+	Frame_Shift_Ins	INS	-	-	G	rs145440779	by1000genomes	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:59812016_59812017C>CG	uc009wac.3	+	3	623_624	c.411_412C>CG	c.(409-414)gtcgggfs	p.V137fs	FGGY_uc001czg.2_Frame_Shift_Ins_p.V25fs|FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Frame_Shift_Ins_p.V137fs|FGGY_uc001czl.4_Intron	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN	Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA.	137					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.500												
GNG12	55970	broad.mit.edu	37	1	68171151	68171152	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:68171150_68171151G>GT	uc001dea.2	-	3	407_408	c.202_203C>AC	c.(202-204)actfs	p.T68fs		NM_018841	NP_061329	Q9UBI6	GBG12_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 12 (GNG12), mRNA.	68					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			lung(3)	3						GATGATGCAAGTTTTTTTATCC	0.436												
PIAS3	10401	broad.mit.edu	37	1	145578385	145578385	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:145578384_145578384AC>A	uc001eoc.1	+	1	438	c.347_347AC>A	c.(346-348)cacfs	p.H116fs	PIAS3_uc010oyy.1_Frame_Shift_Del_p.H107fs|PIAS3_uc001eod.1_5'Flank	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA.	116	PINIT.|Pro-rich.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTGGACATGCACCCCCCTCTG	0.627												
PLEKHO1	51177	broad.mit.edu	37	1	150131249	150131249	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:150131248_150131248AC>A	uc001ett.3	+	5	1038	c.760_760AC>A	c.(760-762)accfs	p.T254fs	PLEKHO1_uc001ets.3_Frame_Shift_Del_p.T71fs|PLEKHO1_uc001etu.3_Frame_Shift_Del_p.T82fs|PLEKHO1_uc021oyc.1_Frame_Shift_Del_p.T71fs	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	Homo sapiens pleckstrin homology domain containing, family O member 1 (PLEKHO1), mRNA.	254	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCCACCTACACCCCCCAGGC	0.647												
RPTN	126638	broad.mit.edu	37	1	152128528	152128528	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:152128527_152128527CT>C	uc001ezs.1	-	2	1113	c.1048_1048AG>G	c.(1048-1050)ggcfs	p.G350fs		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	350	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TAACACTGGCCTTTTCTGTCC	0.493												
FLG2	388698	broad.mit.edu	37	1	152325256	152325257	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:152325255_152325256A>ATG	uc001ezw.4	-	2	5079_5080	c.5006_5007T>CAT	c.(5005-5007)catfs	p.H1669fs	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1669							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGTCCTGTATGTGTGTGTGA	0.505												
MEX3A	92312	broad.mit.edu	37	1	156046867	156046868	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:156046866_156046867T>TG	uc001fnd.4	-	1	1061_1062	c.1061_1062A>CA	c.(1060-1062)ccafs	p.P354fs		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	Homo sapiens mex-3 homolog A (C. elegans) (MEX3A), mRNA.	354						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					CACCCAGGCGTGGGGCCTCAAA	0.668												
VANGL2	57216	broad.mit.edu	37	1	160389203	160389203	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:160389202_160389202TG>T	uc001fwb.2	+	4	902	c.603_603TG>T	c.(601-603)ggtfs	p.G201fs	VANGL2_uc001fwc.2_Frame_Shift_Del_p.G201fs	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	Homo sapiens vang-like 2 (van gogh, Drosophila) (VANGL2), mRNA.	201					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTTCTATGGTGTGCGCATCC	0.642												
CEP350	9857	broad.mit.edu	37	1	179982981	179982981	+	Splice_Site	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:179982980_179982980AG>A	uc001gnt.3	+	10	1777	c.1394_splice	c.e10-2	p.G465_splice	CEP350_uc009wxl.2_Splice_Site_p.G464_splice|CEP350_uc001gnu.3_Splice_Site_p.G299_splice	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	465						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CATACTTTGCAGGGGGTCACA	0.358												
DHX9	1660	broad.mit.edu	37	1	182856514	182856515	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:182856513_182856514A>AG	uc001gpr.3	+	27	3932_3933	c.3757_3758A>AG	c.(3757-3759)aggfs	p.R1253fs	DHX9_uc001gps.3_Frame_Shift_Ins_p.R1039fs|DHX9_uc001gpt.3_Frame_Shift_Ins_p.R532fs|DHX9_uc009wyd.3_Frame_Shift_Ins_p.R218fs	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	1253	NTD.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGGAGGTGGTAGGGGGGCCTAT	0.525												
ZBTB41	360023	broad.mit.edu	37	1	197145703	197145703	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:197145702_197145702AT>A	uc001gtx.1	-	6	1940	c.1871_1871AT>T	c.(1870-1872)atafs	p.I624fs	ZBTB41_uc009wyz.1_Non-coding_Transcript	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	Homo sapiens zinc finger and BTB domain containing 41 (ZBTB41), mRNA.	624					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K623E(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						ACCTGAATGTATTTTTTTGTG	0.308												
CRB1	23418	broad.mit.edu	37	1	197404311	197404312	+	Frame_Shift_Del	DEL	TC	TC	-	rs115649214	by1000genomes	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:197404310_197404311ATC>A	uc001gtz.3	+	8	3526_3527	c.3317_3318ATC>A	c.(3316-3318)tatfs	p.Y1106fs	CRB1_uc010poz.2_Frame_Shift_Del_p.Y1082fs|CRB1_uc009wza.3_Frame_Shift_Del_p.Y994fs|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Frame_Shift_Del_p.Y587fs|CRB1_uc001gub.1_Frame_Shift_Del_p.Y755fs	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1106	Laminin G-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GGAGGCATTTATCTCTCTTACT	0.366												
KDM5B	10765	broad.mit.edu	37	1	202699003	202699003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:202699002_202699002TG>T	uc009xag.3	-	26	4554	c.4438_4438CA>A	c.(4438-4440)aagfs	p.K1480fs	KDM5B_uc001gyf.3_Frame_Shift_Del_p.K1444fs|KDM5B_uc001gyg.1_Frame_Shift_Del_p.K1286fs	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	1444					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			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TTCATGTCCTTGGGGTGGCTC	0.478												
PLEKHA6	22874	broad.mit.edu	37	1	204228411	204228411	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:204228410_204228410AC>A	uc001hau.3	-	7	1300	c.983_983GT>T	c.(982-984)gtafs	p.V328fs	PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	328	Pro-rich.							p.V328fs*172(3)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			AGGCGGGGGTACCCCCCGGCG	0.627												
CR1	1378	broad.mit.edu	37	1	207696973	207696973	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:207696972_207696972AC>A	uc001hfy.3	+	4	644	c.504_504AC>A	c.(502-504)ctafs	p.L168fs	CR1_uc009xcl.1_Frame_Shift_Del_p.L168fs|CR1_uc001hfx.3_Frame_Shift_Del_p.L168fs|CR1_uc021pij.1_Frame_Shift_Del_p.L168fs|CR1_uc009xcj.1_Frame_Shift_Del_p.L168fs|CR1_uc009xck.1_Frame_Shift_Del_p.L168fs	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	168	Sushi 3.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTGTGGGCTACCCCCCACCA	0.428												
IRF6	3664	broad.mit.edu	37	1	209961801	209961801	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:209961800_209961800TG>T	uc001hhq.2	-	8	1673	c.1369_1369CA>A	c.(1369-1371)agcfs	p.S457fs	IRF6_uc010psm.2_Frame_Shift_Del_p.S362fs	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	457					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		AGTTGCATGCTGGGGGTGGGC	0.483										HNSCC(57;0.16)		
RCOR3	55758	broad.mit.edu	37	1	211451507	211451507	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:211451506_211451506GA>G	uc010psw.2	+	5	759	c.564_564GA>G	c.(562-564)tggfs	p.W188fs	RCOR3_uc010psv.1_Non-coding_Transcript|RCOR3_uc001hie.3_Frame_Shift_Del_p.W188fs|RCOR3_uc001hif.3_Frame_Shift_Del_p.W188fs|RCOR3_uc001hig.3_Frame_Shift_Del_p.W130fs	NM_001136223	NP_060724	Q9P2K3	RCOR3_HUMAN	Homo sapiens REST corepressor 3 (RCOR3), transcript variant 1, mRNA.	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.T133fs*4(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		ACTATTCTTGGAAAAAAACTC	0.338												
RAB3GAP2	25782	broad.mit.edu	37	1	220324662	220324662	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr1:220324661_220324661GT>G	uc010puk.1	-	34	4278	c.4114_4114AC>C	c.(4114-4116)catfs	p.H1372fs	RAB3GAP2_uc021pjf.1_Frame_Shift_Del_p.H1372fs|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Frame_Shift_Del_p.H952fs	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	1372					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TATTGCCCATGTTTTTCTGGT	0.398												
ATP6V1C2	245973	broad.mit.edu	37	2	10904471	10904472	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:10904470_10904471C>CT	uc002ras.3	+	4	406_407	c.297_298C>CT	c.(295-300)tcctttfs	p.S99fs	ATP6V1C2_uc002rat.3_Frame_Shift_Ins_p.S99fs	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	99					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		ACTTAACATCCTTTGTGACCCA	0.485												
C2orf70	339778	broad.mit.edu	37	2	26800479	26800479	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:26800478_26800478AC>A	uc010eyn.3	+	2	443	c.443_443AC>A	c.(442-444)tacfs	p.Y148fs		NM_001105519	NP_001098989	A6NJV1	CB070_HUMAN	Homo sapiens chromosome 2 open reading frame 70 (C2orf70), mRNA.	148										breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						CCGGAACGGTACCCCCTCCCC	0.612											OREG0014506	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CCDC88A	55704	broad.mit.edu	37	2	55544436	55544436	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:55544435_55544435AT>A	uc002ryv.2	-	20	4492	c.3650_3650AT>T	c.(3649-3651)atgfs	p.M1217fs	CCDC88A_uc010ypa.1_Frame_Shift_Del_p.M1217fs|CCDC88A_uc010yoz.1_Frame_Shift_Del_p.M1218fs|CCDC88A_uc002ryu.2_Frame_Shift_Del_p.M500fs|CCDC88A_uc002rys.3_Frame_Shift_Del_p.M203fs|CCDC88A_uc002ryw.3_Frame_Shift_Del_p.M501fs|CCDC88A_uc010fby.1_Frame_Shift_Del_p.M97fs	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	1218					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	p.E1216G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TACTTTGAGCATTTTTTCCAA	0.299												
CEP68	23177	broad.mit.edu	37	2	65296702	65296702	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:65296701_65296701GC>G	uc002sdl.4	+	1	337	c.123_123GC>G	c.(121-123)cagfs	p.Q41fs	CEP68_uc002sdj.2_Frame_Shift_Del_p.Q41fs|CEP68_uc010yqb.1_Frame_Shift_Del_p.Q41fs|CEP68_uc002sdk.4_Frame_Shift_Del_p.Q41fs|CEP68_uc010yqc.2_Frame_Shift_Del_p.Q41fs|CEP68_uc010yqd.1_Frame_Shift_Del_p.Q41fs	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	Homo sapiens centrosomal protein 68kDa (CEP68), mRNA.	41					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						GTGGGGAGCAGCCCCCACGCC	0.642												
AUP1	550	broad.mit.edu	37	2	74754869	74754869	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:74754868_74754868TG>T	uc002smh.3	-	6	1250	c.563_563CA>A	c.(562-564)cagfs	p.Q188fs	DQX1_uc010yrw.2_5'Flank|AUP1_uc002sme.3_Frame_Shift_Del_p.Q12fs|AUP1_uc002smf.3_Frame_Shift_Del_p.Q279fs|AUP1_uc002smg.3_Non-coding_Transcript|AUP1_uc010yrx.2_Frame_Shift_Del_p.Q336fs|AUP1_uc021vjm.1_Frame_Shift_Del_p.Q188fs|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc010ffl.3_5'Flank			Q9Y679	AUP1_HUMAN	Homo sapiens ancient ubiquitous protein 1 (AUP1), mRNA.	345						endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						CATACCTGACTGGGGGCGCAA	0.507												
TBC1D8	11138	broad.mit.edu	37	2	101624336	101624337	+	Frame_Shift_Del	DEL	TT	TT	-	rs66489754		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:101624335_101624336GTT>G	uc010fiv.3	-	19	3501_3502	c.3370_3371AAC>C	c.(3370-3372)actfs	p.T1124fs	RPL31_uc010yvu.1_Intron|RPL31_uc010yvv.1_Intron|RPL31_uc010fiu.1_Intron|TBC1D8_uc002tau.4_Frame_Shift_Del_p.T881fs	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	1124					blood circulation|positive regulation of cell proliferation	intracellular|membrane	Rab GTPase activator activity|calcium ion binding			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CATTTCAAAAGTTTTGAGATTG	0.401												
TTN	7273	broad.mit.edu	37	2	179469822	179469822	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:179469821_179469821GT>G	uc021vsy.1	-	228	46604	c.46379_46379AC>C	c.(46378-46380)actfs	p.T15460fs	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Frame_Shift_Del_p.T9155fs|TTN_uc021vta.1_Frame_Shift_Del_p.T9088fs|TTN_uc021vtb.1_Frame_Shift_Del_p.T8963fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16387	Fibronectin type-III 12.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTAAGCTCAGTTTTTGCCTC	0.448												
SGOL2	151246	broad.mit.edu	37	2	201436289	201436289	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:201436288_201436288GA>G	uc002uvw.2	+	6	1332	c.1219_1219GA>G	c.(1219-1221)gaafs	p.E407fs	SGOL2_uc010zhd.1_Frame_Shift_Del_p.E407fs|SGOL2_uc010zhe.1_Frame_Shift_Del_p.E407fs	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	407					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TTCCAGCTCTGAAAAAAAGAG	0.323												
RAPH1	65059	broad.mit.edu	37	2	204305798	204305799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:204305797_204305798T>TG	uc002vad.3	-	13	2340_2341	c.2115_2116A>CA	c.(2113-2118)cccaatfs	p.P705fs		NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	705					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACAACTCCATTGGGGGGTACCA	0.614												
TRPM8	79054	broad.mit.edu	37	2	234879010	234879011	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:234879009_234879010A>AC	uc002vvh.3	+	16	2334_2335	c.2294_2295A>AC	c.(2293-2295)cacfs	p.H765fs	TRPM8_uc010fyj.3_Intron	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	765						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCGGTGCCACACCCCCCCGAGC	0.574												
HDLBP	3069	broad.mit.edu	37	2	242196134	242196134	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr2:242196133_242196133GT>G	uc002waz.3	-	5	712	c.539_539AC>C	c.(538-540)actfs	p.T180fs	HDLBP_uc002wba.3_Frame_Shift_Del_p.T180fs|HDLBP_uc021vzg.1_Frame_Shift_Del_p.T216fs|HDLBP_uc010fzn.1_5'UTR	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	180	KH 1.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	RNA binding|lipid binding|protein binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TTTGGTTGCAGTTTTTAGCTC	0.468												
VILL	50853	broad.mit.edu	37	3	38039625	38039626	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:38039624_38039625A>AC	uc003chj.3	+	7	1094_1095	c.808_809A>AC	c.(808-810)accfs	p.T270fs	VILL_uc003chk.1_Frame_Shift_Ins_p.T270fs|VILL_uc003chl.3_Frame_Shift_Ins_p.T270fs|VILL_uc010hgu.3_Frame_Shift_Ins_p.T100fs	NM_015873	NP_056957	O15195	VILL_HUMAN	Homo sapiens villin-like (VILL), mRNA.	270					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GGAGTTGGCGACCCCCCCACTG	0.644												
KLHDC8B	200942	broad.mit.edu	37	3	49210244	49210244	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:49210243_49210243TC>T	uc003cwh.3	+	1	276	c.41_41TC>T	c.(40-42)ttcfs	p.F14fs	KLHDC8B_uc003cwi.1_5'Flank	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN	Homo sapiens kelch domain containing 8B (KLHDC8B), mRNA.	14						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGGCAAGTGTTCCCCCCCATG	0.642												
GLT8D1	55830	broad.mit.edu	37	3	52731828	52731829	+	Frame_Shift_Ins	INS	-	-	C	rs115960994	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:52731827_52731828G>GC	uc003dfi.4	-	3	469_470	c.238_239C>GC	c.(238-240)gccfs	p.A80fs	GLT8D1_uc003dfk.3_Frame_Shift_Ins_p.A80fs|GLT8D1_uc003dfl.3_Frame_Shift_Ins_p.A80fs|GLT8D1_uc003dfm.3_Frame_Shift_Ins_p.A80fs|GLT8D1_uc003dfn.3_Frame_Shift_Ins_p.A80fs	NM_152932	NP_690909	Q68CQ7	GL8D1_HUMAN	Homo sapiens glycosyltransferase 8 domain containing 1 (GLT8D1), transcript variant 1, mRNA.	80						integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)	8				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AGCTGCAATGGCCCCCCCAAGC	0.485												
PDZRN3	23024	broad.mit.edu	37	3	73437222	73437223	+	Splice_Site	INS	-	-	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:73437221_73437222C>CT	uc003dpl.1	-	8	1513	c.1417_splice	c.e8-1	p.I473_splice	PDZRN3_uc011bgh.1_Splice_Site_p.I130_splice|PDZRN3_uc010hoe.1_Splice_Site_p.I171_splice|PDZRN3_uc011bgf.1_Splice_Site_p.I190_splice|PDZRN3_uc011bgg.1_Splice_Site_p.I193_splice	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	473	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCCCATTAATCTTTTAAAAAAA	0.416												
FILIP1L	11259	broad.mit.edu	37	3	99568273	99568273	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:99568272_99568272GT>G	uc003dtm.3	-	4	2711	c.2248_2248AC>C	c.(2248-2250)ctafs	p.L750fs	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Frame_Shift_Del_p.L750fs|FILIP1L_uc010hpf.3_Frame_Shift_Del_p.L326fs|FILIP1L_uc010hpg.3_Frame_Shift_Del_p.L510fs|FILIP1L_uc003dtn.3_Frame_Shift_Del_p.L510fs|FILIP1L_uc021xbr.1_Frame_Shift_Del_p.L510fs|FILIP1L_uc003dtp.1_Frame_Shift_Del_p.L510fs	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	750						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TGTTGATTTAGTTTTTTTTGC	0.403												
KIAA1407	57577	broad.mit.edu	37	3	113729626	113729626	+	Frame_Shift_Del	DEL	T	T	-	rs35258202		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:113729625_113729625AT>A	uc003eax.3	-	8	1554	c.1407_1407AT>T	c.(1405-1407)aatfs	p.N469fs	KIAA1407_uc011bin.1_Non-coding_Transcript|KIAA1407_uc011bio.1_Frame_Shift_Del_p.N447fs|KIAA1407_uc011bip.1_Frame_Shift_Del_p.N456fs	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	469										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GTACCTGTCCATTTTTTACTG	0.468												
GOLGB1	2804	broad.mit.edu	37	3	121416804	121416805	+	Frame_Shift_Ins	INS	-	-	C	rs146271119	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:121416803_121416804G>GC	uc010hrc.3	-	12	2692_2693	c.2566_2567C>GC	c.(2566-2568)gcafs	p.A856fs	GOLGB1_uc003eei.4_Frame_Shift_Ins_p.A851fs|GOLGB1_uc003eej.4_Frame_Shift_Ins_p.A817fs|GOLGB1_uc021xcy.1_Frame_Shift_Ins_p.A776fs|GOLGB1_uc011bjm.1_Frame_Shift_Ins_p.A737fs|GOLGB1_uc010hrd.1_Frame_Shift_Ins_p.A815fs	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	851					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TACACGTTCTGCCCCCTCAAGC	0.441												
PARP14	54625	broad.mit.edu	37	3	122418640	122418640	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:122418639_122418639TA>T	uc003efq.4	+	5	1297	c.1238_1238TA>T	c.(1237-1239)atafs	p.I413fs	PARP14_uc021xdc.1_Frame_Shift_Del_p.I277fs|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Frame_Shift_Del_p.I130fs|PARP14_uc003efs.1_Frame_Shift_Del_p.I130fs	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGGGACACCATAAAAAATGAT	0.393												
ATP2C1	27032	broad.mit.edu	37	3	130649322	130649323	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:130649321_130649322C>CA	uc011bli.2	+	1	466_467	c.170_171C>CA	c.(169-171)tcafs	p.S57fs	ATP2C1_uc011blg.2_Frame_Shift_Ins_p.S57fs|ATP2C1_uc011blh.2_Frame_Shift_Ins_p.S57fs|ATP2C1_uc003enk.3_Frame_Shift_Ins_p.S7fs|ATP2C1_uc003enl.3_Frame_Shift_Ins_p.S23fs|ATP2C1_uc003enm.3_Frame_Shift_Ins_p.S23fs|ATP2C1_uc003enn.3_Frame_Shift_Ins_p.S7fs|ATP2C1_uc003eno.3_Frame_Shift_Ins_p.S23fs|ATP2C1_uc003enp.3_Frame_Shift_Ins_p.S23fs|ATP2C1_uc003ent.3_Frame_Shift_Ins_p.S23fs|ATP2C1_uc003ens.3_Frame_Shift_Ins_p.S23fs	NM_001199180	NP_001186109	P98194	AT2C1_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 6, mRNA.	23					ATP biosynthetic process|Golgi calcium ion homeostasis|Golgi calcium ion transport|actin cytoskeleton reorganization|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	p.S23S(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	GTATTGACATCAAAAAAAGCAA	0.361									Hailey-Hailey disease			
CEP63	80254	broad.mit.edu	37	3	134251733	134251733	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:134251732_134251732CA>C	uc003eqo.1	+	5	880	c.431_431CA>C	c.(430-432)gcafs	p.A144fs	CEP63_uc003eql.1_Frame_Shift_Del_p.A144fs|CEP63_uc003eqm.3_Frame_Shift_Del_p.A144fs|CEP63_uc003eqn.1_Frame_Shift_Del_p.A144fs	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	Homo sapiens centrosomal protein 63kDa (CEP63), transcript variant 1, mRNA.	144					DNA damage checkpoint|G2/M transition of mitotic cell cycle|cell division|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGGTTAACTGCAAAAATAGAG	0.363												
SLC9A9	285195	broad.mit.edu	37	3	143567076	143567076	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:143567075_143567075CA>C	uc003evn.3	-	0	299	c.90_90TG>G	c.(88-90)ttgfs	p.L30fs	SLC9A9_uc011bnk.2_5'UTR	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	30					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TAAGGATGAGCAAAAAATTGA	0.413												
SI	6476	broad.mit.edu	37	3	164737394	164737395	+	Frame_Shift_Ins	INS	-	-	G	rs35558903		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:164737393_164737394A>AG	uc003fei.3	-	27	3482_3483	c.3419_3420T>CT	c.(3418-3420)cctfs	p.P1140fs		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1140	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TACCTACACCAGGGGGTTGGTC	0.436										HNSCC(35;0.089)		
FNDC3B	64778	broad.mit.edu	37	3	172096210	172096211	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:172096209_172096210T>TC	uc003fhy.3	+	23	3330_3331	c.3158_3159T>TC	c.(3157-3159)gtcfs	p.V1053fs	FNDC3B_uc003fhz.4_Frame_Shift_Ins_p.V1053fs	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	1053						endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ACCAAAAGTGTCCCCCCCACCA	0.470												
EPHB3	2049	broad.mit.edu	37	3	184295718	184295719	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:184295717_184295718T>TC	uc003foz.3	+	7	2108_2109	c.1671_1672T>TC	c.(1669-1674)cttcccfs	p.L557fs		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	557						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			AGGAGCAGCTTCCCCTCATCGT	0.644												
LIPH	200879	broad.mit.edu	37	3	185237031	185237032	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:185237030_185237031GCT>G	uc003fpm.3	-	5	895_896	c.785_786AGC>C	c.(784-786)agcfs	p.S262fs	LIPH_uc010hyh.3_Frame_Shift_Del_p.S228fs	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	262					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TGATGGTGCAGCTCTCTCTCAG	0.475												
LSG1	55341	broad.mit.edu	37	3	194362829	194362829	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr3:194362828_194362828CT>C	uc003fui.3	-	13	2261	c.1946_1946AG>G	c.(1945-1947)agtfs	p.S649fs		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	Homo sapiens large subunit GTPase 1 homolog (S. cerevisiae) (LSG1), mRNA.	649					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		GAGTCTACGACTTTTTTCTTT	0.498												
ZNF518B	85460	broad.mit.edu	37	4	10446746	10446747	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:10446745_10446746G>GT	uc003gmn.3	-	2	1694_1695	c.1207_1208C>AC	c.(1207-1209)acafs	p.T403fs	ZNF518B_uc021xme.1_Frame_Shift_Ins_p.T403fs	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CAGTGACTTTGTTTTTTCTGCA	0.386												
RFC1	5981	broad.mit.edu	37	4	39304169	39304169	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:39304168_39304168AG>A	uc003gty.2	-	17	2531	c.2391_2391CT>T	c.(2389-2391)cctfs	p.P797fs	RFC1_uc003gtx.2_Frame_Shift_Del_p.P796fs	NM_001204747	NP_001191676	P35251	RFC1_HUMAN	Homo sapiens replication factor C (activator 1) 1, 145kDa (RFC1), transcript variant 2, mRNA.	797					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TCATAGCTGGAGGGGGAATCT	0.323												
UBA6	55236	broad.mit.edu	37	4	68530907	68530908	+	Splice_Site	INS	-	-	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:68530906_68530907C>CA	uc003hdg.4	-	10	949	c.897_splice	c.e10+1	p.F299_splice	UBA6_uc003hdi.3_Splice_Site_p.F299_splice|UBA6_uc003hdj.2_Splice_Site_p.F299_splice	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 6 (UBA6), mRNA.	299					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AAAATACTTACAAAAAAAACTG	0.322												
UGT2B7	7364	broad.mit.edu	37	4	69962562	69962562	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:69962561_69962561AT>A	uc003heg.4	+	0	369	c.323_323AT>A	c.(322-324)tatfs	p.Y108fs	UGT2B7_uc010ihq.3_Frame_Shift_Del_p.Y108fs	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	108					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTTTGGTTATATTTTTCACAA	0.294												
SHROOM3	57619	broad.mit.edu	37	4	77675979	77675979	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:77675978_77675978GC>G	uc011cbx.2	+	6	5295	c.4342_4342GC>G	c.(4342-4344)gccfs	p.A1448fs	SHROOM3_uc003hkg.3_Frame_Shift_Del_p.A1226fs	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1448					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGAATCCTCAGCCCCTGATTT	0.567												
BANK1	55024	broad.mit.edu	37	4	102951317	102951317	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:102951316_102951316GA>G	uc003hvy.4	+	9	2068	c.1794_1794GA>G	c.(1792-1794)aagfs	p.K598fs	BANK1_uc003hvx.4_Frame_Shift_Del_p.K583fs|BANK1_uc010ill.3_Frame_Shift_Del_p.K465fs|BANK1_uc003hvz.4_Frame_Shift_Del_p.K568fs	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	598					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TGAGTATAAAGAAAAAAACTG	0.418												
SH3RF1	57630	broad.mit.edu	37	4	170037648	170037650	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:170037647_170037649GCAT>G	uc003isa.1	-	9	2245_2247	c.1910_1912ATGC>C	c.(1909-1914)atgcca>aCca	p.637_638MP>T	SH3RF1_uc010irc.1_In_Frame_Del_p.337_338MP>T	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	637						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GCTGAGCCTGGCATCAGAGGCGC	0.635												
GPM6A	2823	broad.mit.edu	37	4	176573029	176573031	+	In_Frame_Del	DEL	GTG	GTG	-	rs72702639	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr4:176573028_176573030TGTG>T	uc003iuf.3	-	3	1300_1302	c.496_498CACA>A	c.(496-498)aca>A	p.T166del	GPM6A_uc011ckj.2_In_Frame_Del_p.T159del|GPM6A_uc003iug.3_In_Frame_Del_p.T166del|GPM6A_uc003iuh.3_In_Frame_Del_p.T155del	NM_201591	NP_963885	P51674	GPM6A_HUMAN	Homo sapiens glycoprotein M6A (GPM6A), transcript variant 2, mRNA.	166						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		CCTCCACTAATGTGGTGTTCCGG	0.463												
CTNND2	1501	broad.mit.edu	37	5	11384949	11384949	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:11384948_11384948TG>T	uc003jfa.1	-	6	1151	c.1006_1006CA>A	c.(1006-1008)accfs	p.T336fs	CTNND2_uc010itt.2_Frame_Shift_Del_p.T245fs|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	336					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GACTGCACGGTGGGGGGCGAG	0.692												
EGFLAM	133584	broad.mit.edu	37	5	38407028	38407028	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:38407027_38407027TC>T	uc003jlc.2	+	7	1272	c.926_926TC>T	c.(925-927)atcfs	p.I309fs	EGFLAM_uc003jlb.2_Frame_Shift_Del_p.I309fs|EGFLAM_uc003jle.2_Frame_Shift_Del_p.I75fs|EGFLAM_uc003jlf.2_Intron	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	309						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TCTAGGCTCATCCCCCCTACC	0.483												
PPWD1	23398	broad.mit.edu	37	5	64867925	64867926	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:64867924_64867925C>CA	uc003jtv.4	+	4	787_788	c.780_781C>CA	c.(778-783)cccaaafs	p.P260fs	PPWD1_uc011cqv.2_Frame_Shift_Ins_p.P230fs|PPWD1_uc011cqw.2_Frame_Shift_Ins_p.P104fs	NM_015342	NP_056157	Q96BP3	PPWD1_HUMAN	Homo sapiens peptidylprolyl isomerase domain and WD repeat containing 1 (PPWD1), mRNA.	260					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		ATAAATTCCCCAAAAATGTGAA	0.396												
PCDHAC2	56134	broad.mit.edu	37	5	140181371	140181371	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:140181370_140181370GA>G	uc003lhf.2	+	0	588	c.588_588GA>G	c.(586-588)ttgfs	p.L196fs	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Frame_Shift_Del_p.L196fs	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	211	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTCGTGTTGAAAAAAAATT	0.363												
SLC36A1	206358	broad.mit.edu	37	5	150847389	150847389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:150847388_150847388GT>G	uc003luc.3	+	6	842	c.625_625GT>G	c.(625-627)gttfs	p.V209fs	SLC36A1_uc003lub.1_Frame_Shift_Del_p.V209fs|SLC36A1_uc010jhw.1_Frame_Shift_Del_p.V209fs	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 1 (SLC36A1), mRNA.	209					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	GGTGCTGCTGGTTTTCATCAG	0.527												
RNF145	153830	broad.mit.edu	37	5	158596066	158596066	+	Splice_Site	DEL	A	A	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr5:158596065_158596065TA>T	uc010jiq.2	-	8	1179	c.1029_splice	c.e8-1	p.R343_splice	RNF145_uc011ddy.2_Splice_Site_p.R327_splice|RNF145_uc003lxo.2_Splice_Site_p.R341_splice|RNF145_uc011ddz.2_Splice_Site_p.R330_splice|RNF145_uc003lxp.3_Splice_Site_p.R313_splice|RNF145_uc011dea.2_Intron	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	313						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCATGCCCCTAAAAAAAGCA	0.363												
DTNBP1	84062	broad.mit.edu	37	6	15651580	15651580	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:15651579_15651579CA>C	uc003nbm.3	-	2	315	c.126_126TG>G	c.(124-126)ttgfs	p.L42fs	DTNBP1_uc003nbl.3_5'UTR|DTNBP1_uc010jph.3_Frame_Shift_Del_p.L29fs|DTNBP1_uc003nbp.3_Frame_Shift_Del_p.L42fs	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA.	42					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			AGTACTTTGGCAAAAATGGAA	0.313									Hermansky-Pudlak syndrome			
KIF13A	63971	broad.mit.edu	37	6	17788023	17788024	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:17788022_17788023C>CT	uc003ncg.4	-	26	3505_3506	c.3345_3346G>AG	c.(3343-3348)aaagtcfs	p.K1115fs	KIF13A_uc003ncf.3_Frame_Shift_Ins_p.K1102fs|KIF13A_uc003nch.4_Frame_Shift_Ins_p.K1115fs|KIF13A_uc003nci.4_Frame_Shift_Ins_p.K1102fs	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1115					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTATTGCTGACTTTTTTTATCT	0.416												
HLA-C	3107	broad.mit.edu	37	6	31323363	31323364	+	Frame_Shift_Ins	INS	-	-	G	rs77061046		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:31323362_31323363T>TG	uc003nth.2	-	3	680_681	c.626_627A>CA	c.(625-627)ccafs	p.P209fs	HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_Frame_Shift_Ins_p.P88fs|HLA-C_uc003nti.1_Non-coding_Transcript|HLA-C_uc010jsn.1_Non-coding_Transcript|HLA-C_uc010jso.2_3'UTR|HLA-C_uc021yum.1_3'UTR	NM_005514	NP_005505	Q9TNN7	1C05_HUMAN	Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA.	209	Alpha-3.|Ig-like C1-type.				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	MHC class I protein complex|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CGTGTGTCTTTGGGGGGTCTGA	0.579												
BRD2	6046	broad.mit.edu	37	6	32945969	32945970	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:32945968_32945969AAG>A	uc010juh.3	+	8	2948_2949	c.1644_1645AAG>A	c.(1642-1647)aaaagafs	p.K548fs	BRD2_uc003ocn.4_Frame_Shift_Del_p.K548fs|BRD2_uc003oco.3_Non-coding_Transcript|BRD2_uc003ocp.4_Frame_Shift_Del_p.K428fs|BRD2_uc003ocq.4_Frame_Shift_Del_p.K548fs|BRD2_uc021ywf.1_Frame_Shift_Del_p.K501fs	NM_001199455	NP_001186384	P25440	BRD2_HUMAN	Homo sapiens bromodomain containing 2 (BRD2), transcript variant 3, mRNA.	548	Arg/Lys-rich (highly basic).				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CCAAGAGGAAAAGAGAGAAAAA	0.500												
UHRF1BP1	54887	broad.mit.edu	37	6	34839369	34839369	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:34839368_34839368TC>T	uc003oju.4	+	18	4223	c.3989_3989TC>T	c.(3988-3990)atcfs	p.I1330fs	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	1330										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CAGGATGATATCCCCCCCATC	0.512												
CUL9	23113	broad.mit.edu	37	6	43166564	43166566	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:43166563_43166565CCAA>C	uc003ouk.3	+	11	3095_3097	c.3020_3022CCAA>C	c.(3019-3024)cccaac>cCac	p.N1008del	CUL9_uc003oul.3_In_Frame_Del_p.N1008del|CUL9_uc010jyk.3_In_Frame_Del_p.N160del	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	1008					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCTCCGGGGCCCAACAAGACTCT	0.626												
GPR110	266977	broad.mit.edu	37	6	46977322	46977322	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:46977321_46977321CT>C	uc003oyt.3	-	10	2049	c.1850_1850AG>G	c.(1849-1851)agcfs	p.S617fs	GPR110_uc011dwl.2_Frame_Shift_Del_p.S305fs	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	617					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						AGAGGTTTGGCTTTTTTTAAT	0.448												
GCM1	8521	broad.mit.edu	37	6	52999110	52999110	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:52999109_52999109GT>G	uc003pbp.3	-	2	298	c.89_89AC>C	c.(88-90)accfs	p.T30fs	GCM1_uc010jzr.2_Frame_Shift_Del_p.T30fs	NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	Homo sapiens glial cells missing homolog 1 (Drosophila) (GCM1), mRNA.	30						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					GAACCAGTCGGTTTTTTTCAC	0.483												
HCRTR2	3062	broad.mit.edu	37	6	55039411	55039411	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:55039410_55039410TC>T	uc003pcl.3	+	0	340	c.25_25TC>T	c.(25-27)tccfs	p.S9fs	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzu.1_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGGAGGACTCCCCCCCTTG	0.562												
SNAP91	9892	broad.mit.edu	37	6	84269853	84269853	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:84269852_84269852AG>A	uc021zcf.1	-	26	2632	c.2602_2602CT>T	c.(2602-2604)tttfs	p.F868fs	SNAP91_uc011dzd.2_Frame_Shift_Del_p.F366fs|SNAP91_uc003pka.3_Frame_Shift_Del_p.F866fs|SNAP91_uc011dze.2_Frame_Shift_Del_p.F866fs|SNAP91_uc003pkc.3_Frame_Shift_Del_p.F838fs|SNAP91_uc003pkd.3_Frame_Shift_Del_p.F561fs|SNAP91_uc003pkb.3_Frame_Shift_Del_p.F777fs	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	868	Pro-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GCAGCTCCAAAGGGGGGCCTC	0.517												
MARCKS	4082	broad.mit.edu	37	6	114181730	114181731	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:114181729_114181730G>GC	uc003pvy.4	+	1	1368_1369	c.973_974G>GC	c.(973-975)gccfs	p.A325fs		NM_002356	NP_002347	P29966	MARCS_HUMAN	Homo sapiens myristoylated alanine-rich protein kinase C substrate (MARCKS), mRNA.	325					energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding			breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		CAGTCCAGAAGCCCCCCCAGCG	0.644												
NT5DC1	221294	broad.mit.edu	37	6	116560165	116560165	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:116560164_116560164CT>C	uc003pwj.3	+	10	1225	c.1130_1130CT>C	c.(1129-1131)tctfs	p.S377fs	NT5DC1_uc003pwl.3_Frame_Shift_Del_p.S327fs	NM_152729	NP_689942	Q5TFE4	NT5D1_HUMAN	Homo sapiens 5'-nucleotidase domain containing 1 (NT5DC1), mRNA.	377							hydrolase activity|metal ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		AAATGGGGCTCTTTTTTTATT	0.323												
NOX3	50508	broad.mit.edu	37	6	155761274	155761274	+	Splice_Site	DEL	A	A	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:155761273_155761273TA>T	uc003qqm.3	-	6	590	c.487_splice	c.e6-1	p.N163_splice		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	163	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GGTTGTGTTCTaaaaaaaaca	0.358												
TULP4	56995	broad.mit.edu	37	6	158900957	158900958	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:158900956_158900957G>GC	uc003qrf.3	+	6	2557_2558	c.1200_1201G>GC	c.(1198-1203)ctgcccfs	p.L400fs	TULP4_uc011efo.2_Frame_Shift_Ins_p.L400fs|TULP4_uc003qrg.3_Frame_Shift_Ins_p.L400fs	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	400	SOCS box.				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	p.R403fs*91(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		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)		AGCTGACTCTGCCCCCCCGCCT	0.644												
IGF2R	3482	broad.mit.edu	37	6	160485488	160485489	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr6:160485487_160485488C>CG	uc003qta.3	+	27	4089_4090	c.3941_3942C>CG	c.(3940-3942)acgfs	p.T1314fs		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	1314					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		ATGAACTTCACGGGGGGGGACA	0.505												
TMEM184A	202915	broad.mit.edu	37	7	1589528	1589530	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:1589527_1589529GGAT>G	uc003skv.4	-	5	922_924	c.605_607ATCC>C	c.(604-609)atcctc>aCtc	p.202_203IL>T	TMEM184A_uc003skt.4_5'UTR|TMEM184A_uc021zyr.1_In_Frame_Del_p.7_8IL>T	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN	Homo sapiens transmembrane protein 184A (TMEM184A), mRNA.	202						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		AATGCCTGGAGGATGATGGTGGT	0.690												
NUPL2	11097	broad.mit.edu	37	7	23224773	23224774	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:23224772_23224773T>TG	uc003svu.3	+	1	464_465	c.205_206T>TG	c.(205-207)tggfs	p.W69fs	NUPL2_uc003svv.3_Non-coding_Transcript|NUPL2_uc011jyw.2_Non-coding_Transcript	NM_007342	NP_031368	O15504	NUPL2_HUMAN	Homo sapiens nucleoporin like 2 (NUPL2), mRNA.	69					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCACACCATGGGGGGGCAGC	0.406												
HOXA3	3200	broad.mit.edu	37	7	27147962	27147963	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:27147961_27147962T>TG	uc011jzl.2	-	2	1104_1105	c.904_905A>CA	c.(904-906)cagfs	p.Q302fs	HOXA3_uc003syk.3_Frame_Shift_Ins_p.Q302fs	NM_030661	NP_705895	O43365	HXA3_HUMAN	Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA.	302					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GTAGGTACCCTGGGGGGGCTTG	0.718												
GPR141	353345	broad.mit.edu	37	7	37780671	37780671	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:37780670_37780670GA>G	uc003tfm.1	+	0	675	c.675_675GA>G	c.(673-675)ctgfs	p.L225fs	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	225						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Q224*(1)|p.Q224K(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGCTCAGCTGAAAAACCTAT	0.428												
DDC	1644	broad.mit.edu	37	7	50531075	50531075	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:50531074_50531074AT>A	uc003tpg.4	-	13	1499	c.1298_1298AT>T	c.(1297-1299)atcfs	p.I433fs	DDC_uc022ade.1_Frame_Shift_Del_p.I355fs|DDC_uc003tpf.4_Frame_Shift_Del_p.I433fs|DDC_uc022adb.1_Frame_Shift_Del_p.I395fs|DDC_uc022adc.1_Frame_Shift_Del_p.I385fs|DDC_uc022add.1_Frame_Shift_Del_p.I340fs	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	433					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	AACCAAGTGGATTTTTTTGGC	0.507												
SAMD9L	219285	broad.mit.edu	37	7	92762979	92762979	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:92762978_92762978GT>G	uc003umh.1	-	4	3523	c.2307_2307AC>C	c.(2305-2307)aacfs	p.N769fs	SAMD9L_uc003umj.1_Frame_Shift_Del_p.N769fs|SAMD9L_uc003umi.1_Frame_Shift_Del_p.N769fs|SAMD9L_uc010lfb.1_Frame_Shift_Del_p.N769fs|SAMD9L_uc003umk.1_Frame_Shift_Del_p.N769fs|SAMD9L_uc010lfc.1_Frame_Shift_Del_p.N769fs|SAMD9L_uc010lfd.1_Frame_Shift_Del_p.N769fs|SAMD9L_uc022ahh.1_Frame_Shift_Del_p.N769fs	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	769										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CAGTTGTCTTGTTTTTTAACA	0.423												
ZKSCAN1	7586	broad.mit.edu	37	7	99631749	99631750	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:99631748_99631749CAG>C	uc003usk.1	+	5	1839_1840	c.1620_1621CAG>C	c.(1618-1623)gccagafs	p.A540fs	ZKSCAN1_uc003usl.1_Frame_Shift_Del_p.A504fs|ZKSCAN1_uc003usm.1_Frame_Shift_Del_p.A327fs	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 1 (ZKSCAN1), mRNA.	540					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R543fs*3(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GAATCCATGCCAGAGAGAGAGC	0.515												
PLOD3	8985	broad.mit.edu	37	7	100855927	100855928	+	Frame_Shift_Ins	INS	-	-	G	rs138002558	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:100855926_100855927C>CG	uc003uyd.3	-	8	1345_1346	c.889_890G>CG	c.(889-891)cggfs	p.R297fs		NM_001084	NP_001075	O60568	PLOD3_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (PLOD3), mRNA.	297					protein modification process	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	p.R297fs*61(4)|p.P296L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CAGAAACACCCGGGGGGGAGGC	0.639												
CUX1	1523	broad.mit.edu	37	7	101839974	101839975	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:101839973_101839974G>GC	uc003uys.4	+	14	1442_1443	c.1315_1316G>GC	c.(1315-1317)gccfs	p.A439fs	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Frame_Shift_Ins_p.A428fs	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	428					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G439V(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						ATCTTTGCCGGCCCCCCCTCCT	0.564												
IFRD1	3475	broad.mit.edu	37	7	112108039	112108040	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:112108038_112108039C>CT	uc003vgh.3	+	9	1379_1380	c.909_910C>CT	c.(907-912)gactttfs	p.D303fs	IFRD1_uc011kmn.2_Frame_Shift_Ins_p.D253fs|IFRD1_uc003vgj.3_Frame_Shift_Ins_p.D303fs|IFRD1_uc011kmo.2_Non-coding_Transcript|IFRD1_uc011kmp.2_Frame_Shift_Ins_p.D253fs|IFRD1_uc003vgk.3_Frame_Shift_Ins_p.D20fs	NM_001007245	NP_001184009	O00458	IFRD1_HUMAN	Homo sapiens interferon-related developmental regulator 1 (IFRD1), transcript variant 2, mRNA.	303					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						TTGTCCAGGACTTTTTTTATGA	0.391												
SND1	27044	broad.mit.edu	37	7	127724828	127724828	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:127724827_127724827AC>A	uc003vmi.3	+	18	2388	c.2162_2162AC>A	c.(2161-2163)cacfs	p.H721fs	SND1_uc010lle.3_Frame_Shift_Del_p.H374fs	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA.	721					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|melanosome|nucleus	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						ATTGCCAGTCACCCCCCTGTA	0.562												
AKR1B10	57016	broad.mit.edu	37	7	134222396	134222396	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:134222395_134222395CA>C	uc003vrr.3	+	6	1043	c.723_723CA>C	c.(721-723)cacfs	p.H241fs		NM_020299	NP_064695	O60218	AK1BA_HUMAN	Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA.	241					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	p.H241N(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						CTGCAAAGCACAAAAAAACCG	0.443												
SLC4A2	6522	broad.mit.edu	37	7	150761764	150761764	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:150761763_150761763AG>A	uc022apz.1	+	3	1408	c.368_368AG>A	c.(367-369)gagfs	p.E123fs	SLC4A2_uc003wit.4_Frame_Shift_Del_p.E123fs|SLC4A2_uc011kve.2_Frame_Shift_Del_p.E114fs|SLC4A2_uc003wiu.4_Frame_Shift_Del_p.E109fs	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.	123	Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCATTGAGGAGGGGGAGGAA	0.701												
MLL3	58508	broad.mit.edu	37	7	151845524	151845524	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:151845523_151845523TA>T	uc003wla.3	-	51	13708	c.13489_13489TA>A	c.(13489-13491)aagfs	p.K4497fs	MLL3_uc003wkz.3_Frame_Shift_Del_p.K3615fs|MLL3_uc003wkx.3_Frame_Shift_Del_p.K655fs|MLL3_uc003wky.3_Frame_Shift_Del_p.K2061fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4497					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.M4551fs*17(1)|p.M4494fs*17(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	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)		GTTTTGTCCTTAAAAAACATG	0.433			N		medulloblastoma							
MLL3	58508	broad.mit.edu	37	7	151921130	151921132	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr7:151921129_151921131ATCT>A	uc003wla.3	-	19	3511_3513	c.3292_3294AGAT>T	c.(3292-3294)gat>T	p.D1098del	MLL3_uc003wkz.3_In_Frame_Del_p.D159del	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1098					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	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)		GCAGAATAAGATCTTCTTCTCTA	0.355			N		medulloblastoma							
SLC7A2	6542	broad.mit.edu	37	8	17409402	17409402	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:17409401_17409401GA>G	uc011kye.2	+	5	1129	c.1081_1081GA>G	c.(1081-1083)gaafs	p.E361fs	SLC7A2_uc011kyc.2_Frame_Shift_Del_p.E321fs|SLC7A2_uc011kyd.2_Frame_Shift_Del_p.E361fs	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	321					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	p.P361R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CCTCCTCGATGAAAAAAGCCC	0.468												
PRKDC	5591	broad.mit.edu	37	8	48701555	48701556	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:48701554_48701555G>GT	uc003xqi.3	-	76	10868_10869	c.10811_10812C>AC	c.(10810-10812)aacfs	p.N3604fs	PRKDC_uc003xqj.3_Frame_Shift_Ins_p.N3604fs	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	3605					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			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TTTTTTCAATGTTTTTTTTATT	0.401								Non-homologous end-joining				
TAF2	6873	broad.mit.edu	37	8	120816158	120816159	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:120816157_120816158CCT>C	uc003you.3	-	4	790_791	c.520_521AGG>G	c.(520-522)ggtfs	p.G174fs		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.	174					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AACATGAGCACCTCTCTCTGCC	0.342												
KLHL38	340359	broad.mit.edu	37	8	124663997	124663997	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:124663996_124663996TC>T	uc003yqs.1	-	0	1195	c.1171_1171GA>A	c.(1171-1173)attfs	p.I391fs		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA.	391										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CCTTCTCCAATCCCCCCGATG	0.587												
ZNF34	80778	broad.mit.edu	37	8	145998752	145998752	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr8:145998751_145998751TC>T	uc003zdy.4	-	5	1685	c.1583_1583GA>A	c.(1582-1584)gagfs	p.E528fs	ZNF34_uc010mgb.3_Frame_Shift_Del_p.E425fs|ZNF34_uc003zdx.4_Frame_Shift_Del_p.E507fs	NM_030580	NP_085057	Q8IZ26	ZNF34_HUMAN	Homo sapiens zinc finger protein 34 (ZNF34), mRNA.	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		GTAGGGCTTCTCCCCGGTGTG	0.562												
ALDH1A1	216	broad.mit.edu	37	9	75545894	75545894	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:75545893_75545893GA>G	uc004ajd.3	-	2	531	c.214_214TC>C	c.(214-216)cagfs	p.Q72fs	ALDH1A1_uc011lsh.2_5'UTR	NM_000689	NP_000680	P00352	AL1A1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A1 (ALDH1A1), mRNA.	72					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	Ras GTPase activator activity|aldehyde dehydrogenase (NAD) activity|androgen binding|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	GATCCAATCTGAAAAGCCTGT	0.458												
PTCH1	5727	broad.mit.edu	37	9	98209617	98209617	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:98209616_98209616TG>T	uc004avk.4	-	22	4110	c.3922_3922CA>A	c.(3922-3924)agafs	p.R1308fs	PTCH1_uc010mrn.3_Frame_Shift_Del_p.R100fs|PTCH1_uc010mro.3_Frame_Shift_Del_p.R1157fs|PTCH1_uc010mrp.3_Frame_Shift_Del_p.R1157fs|PTCH1_uc010mrq.3_Frame_Shift_Del_p.R1157fs|PTCH1_uc004avl.4_Frame_Shift_Del_p.R1157fs|PTCH1_uc004avm.4_Frame_Shift_Del_p.R1307fs|PTCH1_uc010mrr.3_Frame_Shift_Del_p.R1242fs	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	1308					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.R1308G(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AAGCCTTCTCTGGGGGGGTCC	0.662												
PTCH1	5727	broad.mit.edu	37	9	98268793	98268793	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:98268792_98268792GT>G	uc004avk.4	-	1	479	c.291_291AC>C	c.(289-291)aacfs	p.N97fs	PTCH1_uc010mro.3_5'UTR|PTCH1_uc010mrp.3_5'UTR|PTCH1_uc010mrq.3_5'UTR|PTCH1_uc004avl.4_5'UTR|PTCH1_uc004avm.4_Frame_Shift_Del_p.N96fs|PTCH1_uc010mrr.3_Frame_Shift_Del_p.N31fs|PTCH1_uc010mrt.1_Non-coding_Transcript|PTCH1_uc010mru.1_Non-coding_Transcript|PTCH1_uc004avo.2_Frame_Shift_Del_p.N31fs|PTCH1_uc010mrv.1_Intron|PTCH1_uc010mrw.1_Intron	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	97					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.C98fs*42(2)|p.N97fs*43(2)|p.K96*(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ACTTGCCGCAGTTTTTTTGAA	0.537												
ALG2	85365	broad.mit.edu	37	9	101980272	101980272	+	Frame_Shift_Del	DEL	A	A	-	rs140491089		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:101980271_101980271GA>G	uc004azf.3	-	1	1266	c.1196_1196TC>C	c.(1195-1197)tccfs	p.S399fs	ALG2_uc004azg.3_Frame_Shift_Del_p.S306fs	NM_033087	NP_149078	Q9H553	ALG2_HUMAN	Homo sapiens asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae) (ALG2), transcript variant 1, mRNA.	399					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in endoplasmic reticulum|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein N-terminus binding|protein anchor|protein heterodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				TGCTTCAGGGGAAAATTTTTC	0.413												
CRAT	1384	broad.mit.edu	37	9	131857690	131857690	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:131857689_131857689CG>C	uc004bxh.3	-	13	2150	c.1868_1868CG>G	c.(1867-1869)cggfs	p.R623fs	CRAT_uc004bxk.4_Frame_Shift_Del_p.R602fs	NM_000755	NP_000746	P43155	CACP_HUMAN	Homo sapiens carnitine O-acetyltransferase (CRAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	623					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GAGCTTGGCCCGGGGGTGGCT	0.677												
COL5A1	1289	broad.mit.edu	37	9	137676834	137676834	+	Splice_Site	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr9:137676833_137676833AG>A	uc004cfe.3	+	30	2867	c.2485_splice	c.e30-2	p.G829_splice		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	829	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		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)		TCTGGCTTGCAGGGGGAGATC	0.632												
GATA3	2625	broad.mit.edu	37	10	8115780	8115780	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:8115779_8115779CA>C	uc001ijz.3	+	5	1685	c.1128_1128CA>C	c.(1126-1128)tgcfs	p.C376fs	GATA3_uc001ika.3_Frame_Shift_Del_p.C375fs	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA.	375					T cell receptor signaling pathway|TOR signaling cascade|aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of T cell differentiation|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCAAAAAGTGCAAAAAAGTGC	0.463			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""					
MLLT10	8028	broad.mit.edu	37	10	21962452	21962452	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:21962451_21962451AG>A	uc021pny.1	+	9	1224	c.1224_1224AG>A	c.(1222-1224)gaafs	p.E408fs	MLLT10_uc001iqs.3_Frame_Shift_Del_p.E408fs|MLLT10_uc001iqv.3_Non-coding_Transcript|MLLT10_uc001iqt.3_Frame_Shift_Del_p.E408fs|MLLT10_uc001ira.3_Intron|MLLT10_uc001irb.3_5'Flank	NM_001195626	NP_001182555	P55197	AF10_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (MLLT10), transcript variant 3, mRNA.	408	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V411fs*3(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGCCAGGAAGGGGGGGTAA	0.438			T	"""MLL, PICALM, CDK6"""	AL							
MASTL	84930	broad.mit.edu	37	10	27459056	27459056	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:27459055_27459055TA>T	uc001itm.3	+	7	1770	c.1167_1167TA>T	c.(1165-1167)gctfs	p.A389fs	MASTL_uc001itl.3_Frame_Shift_Del_p.A389fs|MASTL_uc009xkw.2_Frame_Shift_Del_p.A389fs|MASTL_uc009xkx.2_Non-coding_Transcript	NM_001172303	NP_001165774	Q96GX5	GWL_HUMAN	Homo sapiens microtubule associated serine/threonine kinase-like (MASTL), transcript variant 1, mRNA.	389	Protein kinase.				G2/M transition of mitotic cell cycle|cell division|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	p.C392fs*17(2)		breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TAAACCTTGCTAAAAAATGCT	0.413												
SVIL	6840	broad.mit.edu	37	10	29821971	29821973	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:29821970_29821972ATCT>A	uc001iut.1	-	7	2077_2079	c.1324_1326AGAT>T	c.(1324-1326)gat>T	p.D442del	SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_In_Frame_Del_p.D442del	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	442					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGAAGCACACAtcttcttctttt	0.488												
SLC16A9	220963	broad.mit.edu	37	10	61414350	61414350	+	Splice_Site	DEL	A	A	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:61414349_61414349TA>T	uc010qig.1	-	5	886	c.437_splice	c.e5-1	p.G146_splice		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	146					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CGCTTGAACCTAAAAAGGGAA	0.393												
CTNNA3	29119	broad.mit.edu	37	10	67680138	67680138	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:67680137_67680137AT>A	uc009xpn.1	-	17	2762	c.2639_2639AT>T	c.(2638-2640)atcfs	p.I880fs	CTNNA3_uc001jmw.2_Frame_Shift_Del_p.I880fs	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	880					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CAATGGATGGATTTTTTTCTT	0.408												
CTNNA3	29119	broad.mit.edu	37	10	67680208	67680209	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:67680207_67680208G>GT	uc009xpn.1	-	17	2691_2692	c.2568_2569C>AC	c.(2566-2571)aaacccfs	p.K856fs	CTNNA3_uc001jmw.2_Frame_Shift_Ins_p.K856fs	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	856					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.P857fs*4(3)|p.K855E(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TTAATCAAGGGTTTTTTTGCAG	0.465												
SYNPO2L	79933	broad.mit.edu	37	10	75407589	75407589	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:75407588_75407588TG>T	uc001jut.4	-	3	1974	c.1822_1822CA>A	c.(1822-1824)agcfs	p.S608fs	SYNPO2L_uc001jus.4_Frame_Shift_Del_p.S384fs	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 1, mRNA.	608	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					TCGCGAGCGCTGGGGGGCTCA	0.701												
PANK1	53354	broad.mit.edu	37	10	91359120	91359120	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:91359119_91359119CT>C	uc001kgp.2	-	2	1470	c.1200_1200AG>G	c.(1198-1200)aagfs	p.K400fs	PANK1_uc001kgn.2_Frame_Shift_Del_p.K175fs|PANK1_uc001kgo.2_Frame_Shift_Del_p.K175fs|PANK1_uc009xtu.2_Frame_Shift_Del_p.K202fs	NM_148977	NP_683878	Q8TE04	PANK1_HUMAN	Homo sapiens pantothenate kinase 1 (PANK1), transcript variant alpha, mRNA.	400					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	GGCAGTACGGCTTTTTTTGAC	0.433												
BTRC	8945	broad.mit.edu	37	10	103310573	103310573	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:103310572_103310572AC>A	uc001kta.3	+	13	1886	c.1773_1773AC>A	c.(1771-1773)gaafs	p.E591fs	BTRC_uc001ktb.3_Frame_Shift_Del_p.E555fs|BTRC_uc001ktc.3_Frame_Shift_Del_p.E565fs	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA.	591					Wnt receptor signaling pathway|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction	SCF ubiquitin ligase complex|cytosol|nucleus				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCCAAGCTGAACCCCCCCGTT	0.433												
TACC2	10579	broad.mit.edu	37	10	123844364	123844364	+	Frame_Shift_Del	DEL	G	G	-	rs145103148	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:123844363_123844363AG>A	uc001lfv.3	+	3	2708	c.2348_2348AG>A	c.(2347-2349)cagfs	p.Q783fs	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Frame_Shift_Del_p.Q783fs|TACC2_uc010qtv.2_Frame_Shift_Del_p.Q783fs	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	783						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CATCCCCCCCAGGGGGAGAAC	0.627												
FAM24A	118670	broad.mit.edu	37	10	124672308	124672308	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr10:124672307_124672307TA>T	uc001lgv.3	+	2	276	c.155_155TA>T	c.(154-156)gtafs	p.V52fs		NM_001029888	NP_001025059	A6NFZ4	FA24A_HUMAN	Homo sapiens family with sequence similarity 24, member A (FAM24A), mRNA.	52						extracellular region				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		GCTGTGGCTGTAAAAAATCAC	0.478												
AMPD3	272	broad.mit.edu	37	11	10500145	10500145	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:10500144_10500144GC>G	uc001min.1	+	2	665	c.320_320GC>G	c.(319-321)ggcfs	p.G107fs	AMPD3_uc010rbz.1_Intron|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc009yfx.1_Frame_Shift_Del_p.G98fs|AMPD3_uc001mio.1_Frame_Shift_Del_p.G98fs|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Frame_Shift_Del_p.G105fs|AMPD3_uc009yfy.2_Frame_Shift_Del_p.G98fs	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	98					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GATTGGAAGGGCCCCCCGGCA	0.577												
PDE3B	5140	broad.mit.edu	37	11	14880717	14880717	+	Frame_Shift_Del	DEL	T	T	-	rs146384818		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:14880716_14880716GT>G	uc001mln.3	+	12	3001	c.2648_2648GT>G	c.(2647-2649)cgtfs	p.R883fs	PDE3B_uc010rcr.2_Frame_Shift_Del_p.R832fs	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	Homo sapiens phosphodiesterase 3B, cGMP-inhibited (PDE3B), mRNA.	883	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	Golgi apparatus|cytosol|endoplasmic reticulum|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	p.R883H(2)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AAGCGCTTTCGTTTTTTAGTC	0.383												
BDNF	627	broad.mit.edu	37	11	27679519	27679520	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:27679518_27679519G>GC	uc001mrv.3	-	1	951_952	c.593_594C>GC	c.(592-594)ggcfs	p.G198fs	BDNF-AS_uc009yip.3_Intron|BDNF-AS_uc001mrn.3_Intron|BDNF-AS_uc001mro.3_Intron|BDNF-AS_uc001mrm.3_Intron|BDNF-AS_uc009yiq.3_Intron|BDNF-AS_uc001mrp.3_Intron|BDNF-AS_uc009yij.3_Intron|BDNF-AS_uc009yik.3_Intron|BDNF-AS_uc009yil.3_Intron|BDNF-AS_uc009yin.3_Intron|BDNF-AS_uc009yio.3_Intron|BDNF-AS_uc009yim.3_Intron|BDNF-AS_uc009yir.3_Intron|BDNF-AS_uc009yis.3_Intron|BDNF-AS_uc009yiu.3_Intron|BDNF-AS_uc009yix.3_Intron|BDNF-AS_uc009yiy.3_Intron|BDNF-AS_uc001mrq.4_Intron|BDNF-AS_uc009yiw.3_Intron|BDNF-AS_uc009yiz.3_Intron|BDNF-AS_uc001mrr.4_Intron|BDNF-AS_uc009yit.3_Intron|BDNF-AS_uc009yiv.3_Intron|BDNF-AS_uc009yja.3_Intron|BDNF-AS_uc009yjb.3_Intron|BDNF_uc021qff.1_Frame_Shift_Ins_p.G198fs|BDNF_uc010rdu.2_Frame_Shift_Ins_p.G198fs|BDNF_uc001mrt.3_Frame_Shift_Ins_p.G213fs|BDNF_uc010rdw.2_Frame_Shift_Ins_p.G198fs|BDNF_uc009yjd.3_Frame_Shift_Ins_p.G198fs|BDNF_uc001mru.3_Frame_Shift_Ins_p.G198fs|BDNF_uc010rdx.2_Frame_Shift_Ins_p.G198fs|BDNF_uc009yjf.3_Frame_Shift_Ins_p.G227fs|BDNF_uc010rdy.2_Frame_Shift_Ins_p.G198fs|BDNF_uc009yjg.3_Frame_Shift_Ins_p.G198fs|BDNF_uc009yje.3_Frame_Shift_Ins_p.G280fs|BDNF_uc001mrw.4_Frame_Shift_Ins_p.G198fs|BDNF_uc001mry.4_Frame_Shift_Ins_p.G198fs|BDNF_uc001mrz.4_Frame_Shift_Ins_p.G198fs|BDNF_uc001mrx.3_Frame_Shift_Ins_p.G198fs|BDNF_uc001msa.3_Frame_Shift_Ins_p.G206fs	NM_170733	NP_733931	P23560	BDNF_HUMAN	Homo sapiens brain-derived neurotrophic factor (BDNF), transcript variant 5, mRNA.	198						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						TTTTGTCTATGCCCCTGCAGCC	0.485												
EML3	256364	broad.mit.edu	37	11	62377133	62377133	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:62377132_62377132GC>G	uc010rly.1	-	4	911	c.603_603GC>C	c.(601-603)ggcfs	p.G201fs	EML3_uc001ntr.1_Frame_Shift_Del_p.G173fs|EML3_uc001nts.1_Frame_Shift_Del_p.G173fs|EML3_uc001ntt.1_Frame_Shift_Del_p.G85fs|EML3_uc001ntu.1_Frame_Shift_Del_p.G201fs|EML3_uc009yny.1_5'UTR			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	201						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GAGATCCAGGGCCCCCAGGGC	0.577												
LTBP3	4054	broad.mit.edu	37	11	65314283	65314283	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:65314282_65314282GC>G	uc001oej.3	-	14	2486	c.2217_2217GC>C	c.(2215-2217)ggcfs	p.G739fs	LTBP3_uc001oef.3_5'Flank|LTBP3_uc001oeg.3_5'Flank|LTBP3_uc001oeh.3_Frame_Shift_Del_p.G169fs|LTBP3_uc010roi.2_Frame_Shift_Del_p.G622fs|LTBP3_uc001oei.3_Frame_Shift_Del_p.G739fs|LTBP3_uc010roj.2_Frame_Shift_Del_p.G440fs|LTBP3_uc010rok.1_Frame_Shift_Del_p.G650fs	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	739	Cys-rich.					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GACAGGCCCCGCCCCCCTGGC	0.726												
BIRC3	330	broad.mit.edu	37	11	102195491	102195491	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:102195490_102195490GA>G	uc001pgx.3	+	1	3045	c.250_250GA>G	c.(250-252)gaafs	p.E84fs		NM_182962	NP_892007	Q13489	BIRC3_HUMAN	Homo sapiens baculoviral IAP repeat containing 3 (BIRC3), transcript variant 2, mRNA.	84					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		CAGTCCTACTGAAAAGCATAA	0.428			T	MALT1	MALT							
CASP1	834	broad.mit.edu	37	11	104901070	104901070	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:104901069_104901069AT>A	uc001pim.4	-	4	615	c.615_615AT>T	c.(613-615)aatfs	p.N205fs	CASP1_uc001pig.3_Frame_Shift_Del_p.N112fs|CASP1_uc021qpq.1_Frame_Shift_Del_p.N184fs|CASP1_uc021qpr.1_Frame_Shift_Del_p.N112fs|CASP1_uc021qps.1_Intron|CASP1_uc021qpp.1_Frame_Shift_Del_p.N205fs|CASP1_uc021qpt.1_Frame_Shift_Del_p.N112fs|CASP1_uc010rve.2_Frame_Shift_Del_p.N205fs|CASP1_uc010rvf.2_Frame_Shift_Del_p.N112fs|CASP1_uc010rvg.2_Frame_Shift_Del_p.N184fs|CASP1_uc010rvh.2_Frame_Shift_Del_p.N112fs|CASP1_uc010rvi.2_Intron|CASP1_uc009yxi.3_Frame_Shift_Del_p.N184fs|CASP1_uc021qpu.1_Frame_Shift_Del_p.N112fs|CASP1_uc021qpv.1_Frame_Shift_Del_p.N184fs|CASP1_uc021qpw.1_Frame_Shift_Del_p.N112fs|CASP1_uc021qpx.1_Intron|CASP1_uc010rvj.2_Frame_Shift_Del_p.N205fs|CASP1_uc009yxj.3_Frame_Shift_Del_p.N50fs|CASP1_uc010rvk.2_Frame_Shift_Del_p.N166fs	NM_033292	NP_150634	P29466	CASP1_HUMAN	Homo sapiens caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) (CASP1), transcript variant alpha, mRNA.	205					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	p.N205I(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	AAGCAGTGAGATTTTTTTTCA	0.378												
ATM	472	broad.mit.edu	37	11	108114817	108114817	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:108114816_108114816CT>C	uc001pkb.1	+	5	1018	c.633_633CT>C	c.(631-633)gacfs	p.D211fs	ATM_uc009yxr.1_Frame_Shift_Del_p.D211fs	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	211					DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AATTTTTGGACTTTTTTTCCA	0.343			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)		
NCAM1	4684	broad.mit.edu	37	11	113103872	113103872	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:113103871_113103871AC>A	uc021qqp.1	+	13	1969	c.1597_1597AC>A	c.(1597-1599)accfs	p.T533fs	NCAM1_uc001pnp.3_Frame_Shift_Del_p.T497fs|NCAM1_uc021qqo.1_Frame_Shift_Del_p.T497fs|NCAM1_uc001pnq.3_Frame_Shift_Del_p.T507fs|NCAM1_uc001pnr.3_Frame_Shift_Del_p.T497fs	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	509	Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CCCCACAGACACCCCCTCTTC	0.547												
NLRX1	79671	broad.mit.edu	37	11	119044381	119044381	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:119044380_119044380TC>T	uc001pvu.3	+	4	637	c.422_422TC>T	c.(421-423)ctcfs	p.L141fs	NLRX1_uc010rzc.1_5'UTR|NLRX1_uc001pvv.3_Frame_Shift_Del_p.L141fs|NLRX1_uc001pvw.3_Frame_Shift_Del_p.L141fs|NLRX1_uc001pvx.3_Frame_Shift_Del_p.L141fs	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	141	Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CAGGCCGGGCTCCCCCCACTG	0.657												
C11orf45	219833	broad.mit.edu	37	11	128774338	128774338	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr11:128774337_128774337AC>A	uc001qeu.3	-	1	319	c.125_125GT>T	c.(124-126)gtgfs	p.V42fs	KCNJ5_uc001qet.3_Intron|KCNJ5_uc009zck.3_Intron|C11orf45_uc009zcl.3_Frame_Shift_Del_p.V42fs|C11orf45_uc001qev.3_Frame_Shift_Del_p.V42fs	NM_145013	NP_659450	Q8TAV5	CK045_HUMAN	Homo sapiens chromosome 11 open reading frame 45 (C11orf45), transcript variant 2, mRNA.	42						extracellular region				endometrium(1)|kidney(1)|lung(2)|pancreas(1)|prostate(2)	7	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)		TGTTGGAGTCACCTGGGGCCA	0.567												
FKBP4	2288	broad.mit.edu	37	12	2907011	2907011	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:2907010_2907010TC>T	uc001qkz.3	+	2	564	c.366_366TC>T	c.(364-366)attfs	p.I122fs		NM_002014	NP_002005	Q02790	FKBP4_HUMAN	Homo sapiens FK506 binding protein 4, 59kDa (FKBP4), mRNA.	122	PPIase FKBP-type 1.				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	CTCCAAAGATTCCCCCCAATG	0.552												
TAS2R8	50836	broad.mit.edu	37	12	10959322	10959322	+	Frame_Shift_Del	DEL	A	A	-	rs147403213		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:10959321_10959321TA>T	uc010shh.2	-	0	259	c.259_259TA>A	c.(259-261)accfs	p.T87fs		NM_023918	NP_076407	Q9NYW2	TA2R8_HUMAN	Homo sapiens taste receptor, type 2, member 8 (TAS2R8), mRNA.	87					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTCCAGAAGGTAAAAATGACT	0.348												
PRB1	5542	broad.mit.edu	37	12	11506346	11506346	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:11506345_11506345TG>T	uc001qzw.1	-	3	726	c.689_689CA>A	c.(688-690)caafs	p.Q230fs	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	292	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGGGGACCTTGGGGCTGGTT	0.607												
GXYLT1	283464	broad.mit.edu	37	12	42499816	42499817	+	Frame_Shift_Ins	INS	-	-	A	rs78939583		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:42499815_42499816T>TA	uc001rms.4	-	4	893_894	c.668_669A>TA	c.(667-669)ttafs	p.L223fs	GXYLT1_uc001rmt.4_Frame_Shift_Ins_p.L192fs	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	Homo sapiens glucoside xylosyltransferase 1 (GXYLT1), transcript variant 1, mRNA.	223					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						CAACTGGTCGTAAAAAAAGGAT	0.327												
MLL2	8085	broad.mit.edu	37	12	49445500	49445500	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:49445499_49445499AG>A	uc001rta.4	-	9	1967	c.1967_1967CT>T	c.(1966-1968)ctgfs	p.L656fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	656	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CACCACAGGCAGGGGGGATAG	0.642			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
MAP3K12	7786	broad.mit.edu	37	12	53874985	53874986	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:53874984_53874985T>TG	uc001sdn.2	-	13	2931_2932	c.2660_2661A>CA	c.(2659-2661)ccafs	p.P887fs	MAP3K12_uc001sdm.2_Frame_Shift_Ins_p.P854fs	NM_001193511	NP_001180440	Q12852	M3K12_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 12 (MAP3K12), transcript variant 1, mRNA.	854					JNK cascade|histone phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GGAGGGAAGCTGGGGGCCGCAA	0.416												
EEA1	8411	broad.mit.edu	37	12	93172940	93172940	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:93172939_93172939CT>C	uc001tck.3	-	24	3871	c.3606_3606AG>G	c.(3604-3606)aagfs	p.K1202fs		NM_003566	NP_003557	Q15075	EEA1_HUMAN	Homo sapiens early endosome antigen 1 (EEA1), mRNA.	1202	Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|GTP-dependent protein binding|calmodulin binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						CCTCTTCTTCCTTTTTCACCT	0.403												
NDUFA12	55967	broad.mit.edu	37	12	95387988	95387988	+	Frame_Shift_Del	DEL	T	T	-	rs146044204	by1000genomes	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:95387987_95387987GT>G	uc001tdl.3	-	2	271	c.216_216AC>C	c.(214-216)aacfs	p.N72fs		NM_018838	NP_061326	Q9UI09	NDUAC_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 (NDUFA12), nuclear gene encoding mitochondrial protein, mRNA.	72					respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|electron carrier activity			endometrium(1)|large_intestine(2)|lung(3)	6					NADH(DB00157)	CCCAGAATGTGTTTTTGCCAT	0.368												
DNAH10	196385	broad.mit.edu	37	12	124256216	124256217	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:124256215_124256216CAA>C	uc001uft.4	+	2	208_209	c.183_184CAA>C	c.(181-186)gacaaafs	p.D61fs		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	61	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAGAAATGGACAAAGAGATTTC	0.441												
EP400	57634	broad.mit.edu	37	12	132475215	132475215	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr12:132475214_132475214GA>G	uc001ujn.3	+	8	2736	c.2584_2584GA>G	c.(2584-2586)gaafs	p.E862fs	EP400_uc021rgq.1_Frame_Shift_Del_p.E861fs|EP400_uc001ujm.3_Frame_Shift_Del_p.E862fs|EP400_uc001ujj.2_Frame_Shift_Del_p.E825fs|EP400_uc001ujk.3_Frame_Shift_Del_p.E898fs	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	898	HSA.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	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)		AGAATTAGAAGAAAAAAGGAA	0.373												
UTP14C	9724	broad.mit.edu	37	13	52603836	52603836	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:52603835_52603835CA>C	uc001vgb.3	+	1	1457	c.895_895CA>C	c.(895-897)caafs	p.Q299fs	UTP14C_uc001vga.3_3'UTR|UTP14C_uc001vgc.3_Non-coding_Transcript|UTP14C_uc021rjw.1_Frame_Shift_Del_p.Q299fs	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) (UTP14C), mRNA.	299					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		CCTTAAGCACCAAAACAGTGG	0.438												
MYCBP2	23077	broad.mit.edu	37	13	77641917	77641917	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr13:77641916_77641916TG>T	uc021rks.1	-	70	12522	c.12255_12255CA>A	c.(12253-12255)ccafs	p.P4085fs	MYCBP2_uc010aev.3_Frame_Shift_Del_p.P3451fs|MYCBP2_uc001vke.3_Frame_Shift_Del_p.P664fs	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	4047					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGATATCTGCTGGGGGGAGGG	0.438												
OR10G2	26534	broad.mit.edu	37	14	22102925	22102926	+	Frame_Shift_Ins	INS	-	-	G	rs150140072		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr14:22102924_22102925T>TG	uc010tmc.2	-	0	74_75	c.74_75A>CA	c.(73-75)ccafs	p.P25fs		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P25T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TTCTTAGATTTGGGGGGTGAGA	0.480												
GJD2	57369	broad.mit.edu	37	15	35045250	35045250	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:35045249_35045249AC>A	uc001zis.1	-	1	396	c.396_396GT>T	c.(394-396)ggtfs	p.G132fs	AK092087_uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	Homo sapiens gap junction protein, delta 2, 36kDa (GJD2), mRNA.	132	Poly-Gly.				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		CACTGCCCCCACCCCCAGTTC	0.562												
MYO5A	4644	broad.mit.edu	37	15	52620058	52620058	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:52620057_52620057CT>C	uc002aby.2	-	34	4871	c.4627_4627AG>G	c.(4627-4629)gtafs	p.V1543fs	MYO5A_uc002abx.3_Frame_Shift_Del_p.V1516fs|MYO5A_uc010ugd.1_Frame_Shift_Del_p.V265fs	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	1543	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ACCTTCAATACTTTTTTGATG	0.368												
ITGA11	22801	broad.mit.edu	37	15	68617582	68617582	+	Splice_Site	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:68617581_68617581TG>T	uc010bib.3	-	18	2299	c.2212_splice	c.e18-1	p.D738_splice	ITGA11_uc002ari.3_Splice_Site_p.D738_splice	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	738					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	AGCAGTGTCCTGGGGGGTGGA	0.582												
BLM	641	broad.mit.edu	37	15	91292793	91292794	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr15:91292792_91292793AAC>A	uc002bpr.3	+	2	391_392	c.294_295AAC>A	c.(292-297)gaaacafs	p.E98fs	BLM_uc010uqh.2_Frame_Shift_Del_p.E98fs|BLM_uc010uqi.2_5'UTR|BLM_uc010bnx.3_Frame_Shift_Del_p.E98fs	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	98					G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CAGGACAGGAAACACAGAGAGG	0.426			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome			
ITFG3	83986	broad.mit.edu	37	16	304499	304500	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:304498_304499C>CA	uc002cgf.3	+	2	281_282	c.86_87C>CA	c.(85-87)tcafs	p.S29fs	LUC7L_uc021szo.1_Intron|ITFG3_uc010bqr.2_Intron|ITFG3_uc002cgg.2_Frame_Shift_Ins_p.S29fs|ITFG3_uc010uud.1_Non-coding_Transcript|ITFG3_uc002cgh.3_Frame_Shift_Ins_p.S29fs	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 3 (ITFG3), mRNA.	29						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				GGAAATCCATCAAAAAATGAGG	0.495											OREG0003695	type=REGULATORY REGION|Gene=C16orf9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
ZKSCAN2	342357	broad.mit.edu	37	16	25255311	25255311	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:25255310_25255310TG>T	uc002dod.4	-	5	2184	c.1777_1777CA>A	c.(1777-1779)agcfs	p.S593fs	ZKSCAN2_uc010vcl.2_Frame_Shift_Del_p.S389fs	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	593					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCTGGGGTGCTGGGGGAAGGA	0.547												
GTF3C1	2975	broad.mit.edu	37	16	27549671	27549671	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:27549670_27549670TC>T	uc002dov.2	-	2	479	c.439_439GA>A	c.(439-441)aagfs	p.K147fs	GTF3C1_uc002dou.3_Frame_Shift_Del_p.K147fs	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	147						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ATCAGTTTCTTCCCCCACCTG	0.478												
SEZ6L2	26470	broad.mit.edu	37	16	29891249	29891249	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:29891248_29891248TG>T	uc010vec.2	-	8	1755	c.1510_1510CA>A	c.(1510-1512)aatfs	p.N504fs	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Frame_Shift_Del_p.N434fs|SEZ6L2_uc002dur.4_Frame_Shift_Del_p.N434fs|SEZ6L2_uc002duq.4_Frame_Shift_Del_p.N504fs|SEZ6L2_uc010ved.2_Frame_Shift_Del_p.N460fs|SEZ6L2_uc002dus.4_Frame_Shift_Del_p.N390fs	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	504	Sushi 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCGATGGCATTGGGGGGCCCA	0.602												
SRCAP	10847	broad.mit.edu	37	16	30745939	30745939	+	Splice_Site	DEL	A	A	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:30745938_30745938TA>T	uc002dze.1	+	31	7114	c.6729_splice	c.e31+2	p.Q2243_splice	SRCAP_uc002dzf.3_Splice_Site|SRCAP_uc002dzg.1_Splice_Site_p.Q2038_splice	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2243	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTGGAGCAGGTAAAAAAAGAG	0.473												
NLRC5	84166	broad.mit.edu	37	16	57060196	57060196	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:57060195_57060195GC>G	uc021tiu.1	+	4	1467	c.1340_1340GC>G	c.(1339-1341)agcfs	p.S447fs	NLRC5_uc021tit.1_Frame_Shift_Del_p.S447fs|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Frame_Shift_Del_p.S252fs|NLRC5_uc021tiw.1_Frame_Shift_Del_p.S252fs|NLRC5_uc010ccr.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	447	NACHT.				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 MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|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|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTCGCCCTCAGCCCCCCTGGG	0.607												
TK2	7084	broad.mit.edu	37	16	66547656	66547656	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:66547655_66547655GA>G	uc002eos.3	-	8	1029	c.678_678TC>C	c.(676-678)ttcfs	p.F226fs	TK2_uc021tjp.1_Non-coding_Transcript|TK2_uc010vip.2_Frame_Shift_Del_p.F129fs|TK2_uc002eor.3_Frame_Shift_Del_p.F195fs|TK2_uc010cdq.3_Frame_Shift_Del_p.S139fs|TK2_uc010viq.2_Frame_Shift_Del_p.F208fs|TK2_uc010vir.2_Frame_Shift_Del_p.F201fs|TK2_uc010cdr.3_Frame_Shift_Del_p.F177fs	NM_004614	NP_004605	O00142	KITM_HUMAN	Homo sapiens thymidine kinase 2, mitochondrial (TK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	226					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		CTGCCATGGGGAAAAGGCTGC	0.537												
FAM65A	79567	broad.mit.edu	37	16	67575786	67575788	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:67575785_67575787CAGG>C	uc010vjp.2	+	12	1342_1344	c.1156_1158CAGG>C	c.(1156-1158)cag>C	p.Q386del	FAM65A_uc010cei.2_In_Frame_Del_p.Q208del|FAM65A_uc002eth.3_In_Frame_Del_p.Q366del|FAM65A_uc010cej.3_In_Frame_Del_p.Q370del|FAM65A_uc002eti.2_In_Frame_Del_p.Q329del|FAM65A_uc010vjq.2_In_Frame_Del_p.Q380del|FAM65A_uc002etj.1_In_Frame_Del_p.Q365del|FAM65A_uc002etk.3_In_Frame_Del_p.Q365del	NM_001193523	NP_078795	Q6ZS17	FA65A_HUMAN	Homo sapiens family with sequence similarity 65, member A (FAM65A), transcript variant 3, mRNA.	370						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GCTGCGACGGCAGGAGGAGCTGG	0.601												
CTCF	10664	broad.mit.edu	37	16	67645339	67645339	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:67645338_67645338CA>C	uc002etl.3	+	2	1047	c.603_603CA>C	c.(601-603)gccfs	p.A201fs	CTCF_uc010cek.3_Intron	NM_006565	NP_001177951	P49711	CTCF_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.	201					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGCCACCAGCCAAAAAAACAA	0.473												
ESRP2	80004	broad.mit.edu	37	16	68264442	68264442	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:68264441_68264441TG>T	uc010cfa.1	-	13	2133	c.1945_1945CA>A	c.(1945-1947)accfs	p.T649fs	ESRP2_uc002evp.1_Non-coding_Transcript|ESRP2_uc002evq.1_Frame_Shift_Del_p.T639fs	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	Homo sapiens epithelial splicing regulatory protein 2 (ESRP2), mRNA.	649					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CCCACAGTGGTGGGGGAGACT	0.617												
FOXC2	2303	broad.mit.edu	37	16	86601500	86601500	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr16:86601499_86601499GC>G	uc002fjq.3	+	0	643	c.558_558GC>G	c.(556-558)ccgfs	p.P186fs		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	Homo sapiens forkhead box C2 (MFH-1, mesenchyme forkhead 1) (FOXC2), mRNA.	186					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						TCAAGGAGCCGCCCCCGGCGG	0.687									Late-onset Hereditary Lymphedema			
ITGAE	3682	broad.mit.edu	37	17	3646898	3646900	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:3646897_3646899GTCC>G	uc002fwo.4	-	18	2431_2433	c.2332_2334GGAC>C	c.(2332-2334)gac>C	p.D778del		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	778					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TGGAGAAGCAGTCCTCCTCACAG	0.527												
EFNB3	1949	broad.mit.edu	37	17	7611436	7611436	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:7611435_7611435AC>A	uc002gis.3	+	1	679	c.282_282AC>A	c.(280-282)gcafs	p.A94fs		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	Homo sapiens ephrin-B3 (EFNB3), mRNA.	94					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				GCTGTGAGGCACCCCCTGCCC	0.612												
MYOCD	93649	broad.mit.edu	37	17	12642606	12642606	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:12642605_12642605GC>G	uc002gno.2	+	6	976	c.677_677GC>G	c.(676-678)ggcfs	p.G226fs	MYOCD_uc002gnn.2_Frame_Shift_Del_p.G226fs|MYOCD_uc002gnp.1_Frame_Shift_Del_p.G130fs	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	226					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CAGGGGCTTGGCCCCCCCAGC	0.582												
NLK	51701	broad.mit.edu	37	17	26449740	26449740	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:26449739_26449739GT>G	uc010crj.3	+	1	781	c.569_569GT>G	c.(568-570)tgtfs	p.C190fs		NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	Homo sapiens nemo-like kinase (NLK), mRNA.	190	Protein kinase.				Wnt receptor signaling pathway|intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	ATP binding|MAP kinase activity|SH2 domain binding|magnesium ion binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AAGATGTTGTGTTTTTTTAAG	0.388												
RFFL	117584	broad.mit.edu	37	17	33445634	33445645	+	Splice_Site	DEL	AGGGCCTGCCAA	AGGGCCTGCCAA	-	rs140317560	byFrequency	TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:33445633_33445644CAGGGCCTGCCAA>C	uc002hir.2	-	3	401	c.145_splice	c.e3-1	p.A49_splice	RFFL_uc002hiq.2_Intron|RFFL_uc010wce.1_Splice_Site|RFFL_uc010wcd.1_Intron|RFFL_uc002hit.2_Intron|RFFL_uc002hiu.2_Intron|RFFL_uc002his.2_Intron|RFFL_uc010ctk.2_Splice_Site|RFFL_uc010wcf.1_Splice_Site|RFFL_uc002hiw.1_Splice_Site|RFFL_uc002hiv.1_Splice_Site|RFFL_uc010ctl.1_Splice_Site|RFFL_uc010ctm.1_Splice_Site|FNDC8_uc002hix.3_5'Flank	NM_002878	NP_002869	Q8WZ73	RFFL_HUMAN	Homo sapiens RAD51 homolog D (S. cerevisiae) (RAD51D), transcript variant 1, mRNA.	0					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TCAGGGCAACCAGGGCCTGCCAAAGGGCCCCA	0.575												
SRCIN1	80725	broad.mit.edu	37	17	36708254	36708254	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:36708253_36708253TG>T	uc002hqd.3	-	13	2821	c.2596_2596CA>A	c.(2596-2598)agcfs	p.S866fs	SRCIN1_uc002hqf.1_Frame_Shift_Del_p.S738fs|SRCIN1_uc002hqe.2_Frame_Shift_Del_p.S720fs|SRCIN1_uc002hqg.3_Frame_Shift_Del_p.S172fs	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA.	738	Pro-rich.				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						AGCGGGGGGCTGGGGGGTGGC	0.617												
HOXB3	3213	broad.mit.edu	37	17	46628219	46628219	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:46628218_46628218GC>G	uc002inn.3	-	1	1174	c.774_774GC>C	c.(772-774)ggcfs	p.G258fs	HOXB3_uc010wlm.2_Frame_Shift_Del_p.G185fs|HOXB3_uc010dbf.3_Frame_Shift_Del_p.G258fs|HOXB3_uc010dbg.3_Frame_Shift_Del_p.G258fs|HOXB3_uc002ino.3_Frame_Shift_Del_p.G258fs|HOXB3_uc010wlk.2_Frame_Shift_Del_p.G126fs|HOXB3_uc010wll.2_Frame_Shift_Del_p.G185fs	NM_002146	NP_002137	P14651	HXB3_HUMAN	Homo sapiens homeobox B3 (HOXB3), mRNA.	258					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CTGGAGATGGGCCCCCCGACG	0.637											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
HOXB3	3213	broad.mit.edu	37	17	46629737	46629738	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:46629736_46629737T>TG	uc002inn.3	-	0	500_501	c.100_101A>CA	c.(100-102)caafs	p.Q34fs	HOXB3_uc010wlm.2_Intron|HOXB3_uc010dbf.3_Frame_Shift_Ins_p.Q34fs|HOXB3_uc010dbg.3_Frame_Shift_Ins_p.Q34fs|HOXB3_uc002ino.3_Frame_Shift_Ins_p.Q34fs|HOXB3_uc010wlk.2_Intron|HOXB3_uc010wll.2_Intron	NM_002146	NP_002137	P14651	HXB3_HUMAN	Homo sapiens homeobox B3 (HOXB3), mRNA.	34					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						AAATGGGGGTTGGGGGGGGACA	0.634												
XYLT2	64132	broad.mit.edu	37	17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TATGGCAGCTACCCCCCCGGC	0.602												
RNF43	54894	broad.mit.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597												
PRKCA	5578	broad.mit.edu	37	17	64683239	64683239	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:64683238_64683238CA>C	uc002jfo.1	+	6	644	c.152_152CA>C	c.(151-153)gcafs	p.A51fs	PRKCA_uc002jfp.1_Frame_Shift_Del_p.A180fs			P17252	KPCA_HUMAN	Homo sapiens protein kinase C, alpha (PRKCA), mRNA.	180					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GTACGAGATGCAAAAAATCTA	0.378												
UNC13D	201294	broad.mit.edu	37	17	73838637	73838638	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr17:73838636_73838637G>GC	uc002jpp.3	-	5	826_827	c.446_447C>GC	c.(445-447)ggcfs	p.G149fs	UNC13D_uc010wsk.1_Frame_Shift_Ins_p.G149fs|UNC13D_uc002jpq.1_5'UTR|UNC13D_uc010dgq.1_5'UTR	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	149	C2 1.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACCCGGGGCTGCCCCCTGGCAC	0.678									Familial Hemophagocytic Lymphohistiocytosis			
KLHL14	57565	broad.mit.edu	37	18	30350355	30350355	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:30350354_30350354AG>A	uc002kxm.1	-	1	589	c.201_201CT>T	c.(199-201)cctfs	p.P67fs		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	67	BTB.					cytosol|endoplasmic reticulum membrane		p.P66T(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CTCCCCCGAGAGGGGGGTGGC	0.721												
PIAS2	9063	broad.mit.edu	37	18	44444174	44444175	+	Frame_Shift_Ins	INS	-	-	A	rs146174831		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:44444173_44444174T>TA	uc002lck.3	-	2	724_725	c.537_538A>TA	c.(535-540)tttattfs	p.F179fs	PIAS2_uc010dnp.3_Intron|PIAS2_uc010xda.2_5'UTR|PIAS2_uc002lcl.3_Frame_Shift_Ins_p.F179fs|PIAS2_uc002lcm.3_Frame_Shift_Ins_p.F179fs|PIAS2_uc002lcn.1_Frame_Shift_Ins_p.F183fs	NM_004671	NP_004662	O75928	PIAS2_HUMAN	Homo sapiens protein inhibitor of activated STAT, 2 (PIAS2), transcript variant beta, mRNA.	179	PINIT.				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|protein binding|transcription coactivator activity|zinc ion binding	p.I180F(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						AAAGCAAAAATAAAAAACTTCT	0.312												
DSEL	92126	broad.mit.edu	37	18	65178798	65178799	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr18:65178797_65178798G>GA	uc002lke.1	-	1	4302_4303	c.3078_3079C>TC	c.(3076-3081)tttcagfs	p.F1026fs	DSEL_uc021ulg.1_Frame_Shift_Ins_p.F1026fs	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	1016						integral to membrane	isomerase activity|sulfotransferase activity	p.Q1027fs*4(2)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AAAACTTCCTGAAAAAAATGAA	0.406												
SLC39A3	29985	broad.mit.edu	37	19	2733111	2733111	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:2733110_2733110TC>T	uc010xgy.1	-	2	838	c.584_584GA>A	c.(583-585)gagfs	p.E195fs	SLC39A3_uc002lwg.3_Frame_Shift_Del_p.E195fs	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 3 (SLC39A3), transcript variant 1, mRNA.	195						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		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)		CACCACTTTCTCCCCCTCCTC	0.716												
SEMA6B	10501	broad.mit.edu	37	19	4552597	4552597	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:4552596_4552596CG>C	uc010dud.2	-	9	1089	c.827_827CG>G	c.(826-828)cgcfs	p.R276fs	SEMA6B_uc010xih.1_Frame_Shift_Del_p.R276fs	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B (SEMA6B), mRNA.	276	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCAGCACGCGGGGGGAGCC	0.647												
PTPRS	5802	broad.mit.edu	37	19	5231528	5231528	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:5231527_5231527GC>G	uc002mbv.3	-	13	2183	c.1949_1949GC>C	c.(1948-1950)gccfs	p.A650fs	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.2_Intron|PTPRS_uc002mbw.3_Frame_Shift_Del_p.A637fs|PTPRS_uc002mbx.3_Intron|PTPRS_uc002mby.3_Intron	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	650	Fibronectin type-III 4.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GCCCACCAGGGCCCCGTTGTG	0.657												
TMEM38A	79041	broad.mit.edu	37	19	16791226	16791226	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:16791225_16791225GC>G	uc002nes.3	+	2	390	c.299_299GC>G	c.(298-300)tgcfs	p.C100fs		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	Homo sapiens transmembrane protein 38A (TMEM38A), mRNA.	100						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						ATTTTCTTCTGCCCCCTGGAC	0.552												
MYO9B	4650	broad.mit.edu	37	19	17322706	17322706	+	Splice_Site	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:17322705_17322705GC>G	uc010eak.3	+	40	6211	c.6059_splice	c.e40-1	p.G2020_splice	MYO9B_uc002nfi.3_Splice_Site|MYO9B_uc002nfm.1_3'UTR	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	2020	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TCTCAAAAGGGCCCCCTGCGC	0.706												
PLVAP	83483	broad.mit.edu	37	19	17488051	17488051	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:17488050_17488050GC>G	uc002ngk.1	-	0	88	c.48_48GC>C	c.(46-48)ggcfs	p.G16fs		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	16						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCCGAGAGCTGCCCCCCGCCC	0.627												
ISYNA1	51477	broad.mit.edu	37	19	18547690	18547690	+	Splice_Site	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:18547689_18547689TG>T	uc002njd.2	-	5	634	c.416_splice	c.e5-1	p.G139_splice	ISYNA1_uc002nja.2_Splice_Site_p.G11_splice|ISYNA1_uc002njb.2_5'UTR|ISYNA1_uc002njc.2_Splice_Site|ISYNA1_uc010xqh.2_Intron|ISYNA1_uc002nje.2_Splice_Site_p.G85_splice	NM_016368	NP_001164410	Q9NPH2	INO1_HUMAN	Homo sapiens inositol-3-phosphate synthase 1 (ISYNA1), transcript variant 1, mRNA.	139					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						TGTCCCAGCCTGGGGGGACCC	0.721												
HAPLN4	404037	broad.mit.edu	37	19	19369444	19369444	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:19369443_19369443TC>T	uc002nmb.3	-	3	816	c.706_706GA>A	c.(706-708)accfs	p.T236fs	HAPLN4_uc002nmc.3_Frame_Shift_Del_p.T236fs	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 4 (HAPLN4), mRNA.	236	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.G235E(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			GCACTCCCGGTCCCCCCCAGG	0.711												
ZNF43	7594	broad.mit.edu	37	19	22002026	22002026	+	Splice_Site	DEL	A	A	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACA	0.383												
ZNF570	148268	broad.mit.edu	37	19	37975122	37975123	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:37975121_37975122T>TA	uc010efl.1	+	5	884_885	c.765_766T>TA	c.(763-768)tttaaafs	p.F255fs	ZNF570_uc002ogk.1_Frame_Shift_Ins_p.F199fs|ZNF570_uc010xtr.1_5'UTR	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	Homo sapiens zinc finger protein 570 (ZNF570), mRNA.	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAGAAGCTTTAAAAAAAATTT	0.366												
PRX	57716	broad.mit.edu	37	19	40900062	40900062	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:40900061_40900061TG>T	uc002onr.3	-	6	4467	c.4198_4198CA>A	c.(4198-4200)aagfs	p.K1400fs	PRX_uc002onq.3_Frame_Shift_Del_p.K1261fs|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	1400					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACGGGGGACTTGGGGGCTGCA	0.692												
ALDH16A1	126133	broad.mit.edu	37	19	49965948	49965948	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:49965947_49965947CG>C	uc002pnt.3	+	7	1149	c.1033_1033CG>C	c.(1033-1035)cggfs	p.R345fs	ALDH16A1_uc010yar.2_Frame_Shift_Del_p.R294fs|ALDH16A1_uc010yas.2_Frame_Shift_Del_p.R180fs|ALDH16A1_uc010yat.2_Frame_Shift_Del_p.R182fs	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	Homo sapiens aldehyde dehydrogenase 16 family, member A1 (ALDH16A1), transcript variant 1, mRNA.	345							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CATGGGGGCCCGGGGGGCTGC	0.682												
AP2A1	160	broad.mit.edu	37	19	50304647	50304648	+	Splice_Site	INS	-	-	C			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:50304646_50304647G>GC	uc002ppn.3	+	13	1765	c.1554_splice	c.e13-1	p.S518_splice	AP2A1_uc010enj.1_Intron|AP2A1_uc002ppo.3_Splice_Site_p.S518_splice|AP2A1_uc002ppp.1_5'Flank	NM_014203	NP_055018	O95782	AP2A1_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 1 subunit (AP2A1), transcript variant 1, mRNA.	518					Golgi to endosome transport|axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CCTGCACACAGCCCCCCAGTGC	0.639												
ZNF473	25888	broad.mit.edu	37	19	50549330	50549331	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:50549329_50549330A>AT	uc002prn.3	+	4	1866_1867	c.1629_1630A>AT	c.(1627-1632)ggatttfs	p.G543fs	ZNF473_uc002prm.3_Frame_Shift_Ins_p.G543fs|ZNF473_uc010ybo.2_Frame_Shift_Ins_p.G531fs	NM_001006656	NP_056243	Q8WTR7	ZN473_HUMAN	Homo sapiens zinc finger protein 473 (ZNF473), transcript variant 2, mRNA.	543	Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AAAAACAAGGATTTTTTGTGAG	0.446												
ZNF347	84671	broad.mit.edu	37	19	53643876	53643876	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr19:53643875_53643875GT>G	uc002qbc.2	-	4	2636	c.2209_2209AC>C	c.(2209-2211)cctfs	p.P737fs	ZNF347_uc002qbb.2_Frame_Shift_Del_p.P736fs|ZNF347_uc010eql.2_Frame_Shift_Del_p.P737fs	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN	Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.	736					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CATTTGTAAGGTTTTTTTCCA	0.423												
NKX2-2	4821	broad.mit.edu	37	20	21492611	21492611	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:21492610_21492610TG>T	uc002wsi.3	-	1	1130	c.773_773CA>A	c.(772-774)cagfs	p.Q258fs		NM_002509	NP_002500	O95096	NKX22_HUMAN	Homo sapiens NK2 homeobox 2 (NKX2-2), mRNA.	258					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	p.P257T(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TGTCGGGTACTGGGGGGTGCT	0.701												
NCOA6	23054	broad.mit.edu	37	20	33346694	33346694	+	Frame_Shift_Del	DEL	G	G	-	rs143078359		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:33346693_33346693CG>C	uc002xav.3	-	6	3129	c.558_558CG>G	c.(556-558)ccgfs	p.P186fs	NCOA6_uc002xaw.3_Frame_Shift_Del_p.P186fs|NCOA6_uc021wcd.1_Frame_Shift_Del_p.P186fs|NCOA6_uc021wce.1_Frame_Shift_Del_p.P186fs|NCOA6_uc021wcf.1_Frame_Shift_Del_p.P186fs|NCOA6_uc010gew.1_Intron	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	186	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CATTTCCACCCGGGGGTATCA	0.453												
KIAA1755	85449	broad.mit.edu	37	20	36870054	36870054	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:36870053_36870053AT>A	uc002xhy.1	-	2	752	c.480_480AT>T	c.(478-480)aatfs	p.N160fs	KIAA1755_uc002xhz.1_Frame_Shift_Del_p.N160fs	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	160										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGTGTAGGGGATTTCCCTCAA	0.512												
PMEPA1	56937	broad.mit.edu	37	20	56227349	56227349	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:56227348_56227348TG>T	uc002xyq.3	-	3	1018	c.625_625CA>A	c.(625-627)agcfs	p.S209fs	PMEPA1_uc002xyr.3_Frame_Shift_Del_p.S159fs|PMEPA1_uc002xys.3_Frame_Shift_Del_p.S174fs|PMEPA1_uc002xyt.3_Frame_Shift_Del_p.S159fs	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	209					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GAGTTACTGCTGGGGGGGCAG	0.687												
VAPB	9217	broad.mit.edu	37	20	56993331	56993331	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:56993330_56993330GT>G	uc002xza.3	+	1	463	c.122_122GT>G	c.(121-123)tgtfs	p.C41fs	VAPB_uc010zzo.2_5'UTR|VAPB_uc002xzd.2_Frame_Shift_Del_p.C41fs|VAPB_uc002xzb.3_Non-coding_Transcript	NM_004738	NP_004729	O95292	VAPB_HUMAN	Homo sapiens VAMP (vesicle-associated membrane protein)-associated protein B and C (VAPB), transcript variant 1, mRNA.	41	MSP.				cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			CGAAATGTGTGTTTTAAGGTG	0.498												
BIRC7	79444	broad.mit.edu	37	20	61869290	61869290	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr20:61869289_61869289TG>T	uc002yej.3	+	1	557	c.384_384TG>T	c.(382-384)tatfs	p.Y128fs	BIRC7_uc010gkc.1_Frame_Shift_Del_p.Y128fs|BIRC7_uc002yei.3_Frame_Shift_Del_p.Y128fs|MIR3196_uc021wga.1_5'Flank	NM_139317	NP_647478	Q96CA5	BIRC7_HUMAN	Homo sapiens baculoviral IAP repeat containing 7 (BIRC7), transcript variant 1, mRNA.	128					DNA fragmentation involved in apoptotic nuclear change|activation of JUN kinase activity|anti-apoptosis	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					TCTTCTGCTATGGGGGCCTGC	0.692												
ADAMTS5	11096	broad.mit.edu	37	21	28306794	28306794	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:28306793_28306793AT>A	uc002ymg.3	-	3	2410	c.1681_1681AT>T	c.(1681-1683)tatfs	p.Y561fs		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	561	Disintegrin.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						ACTGAATAATATTTTTTCTTG	0.478												
TIAM1	7074	broad.mit.edu	37	21	32493037	32493037	+	Frame_Shift_Del	DEL	G	G	-	rs143258724		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:32493036_32493036CG>C	uc002yow.1	-	28	4898	c.4426_4426CG>G	c.(4426-4428)ggtfs	p.G1476fs	TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Frame_Shift_Del_p.G1416fs	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	1476					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	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCCCCACCACCGGGGGGCTGC	0.567												
ICOSLG	23308	broad.mit.edu	37	21	45655413	45655413	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr21:45655412_45655412TG>T	uc010gpp.1	-	3	574	c.440_440CA>A	c.(439-441)cacfs	p.H147fs	ICOSLG_uc002zef.3_Frame_Shift_Del_p.H30fs|ICOSLG_uc002zee.3_Frame_Shift_Del_p.H147fs|ICOSLG_uc011afc.2_Frame_Shift_Del_p.H57fs	NM_015259	NP_056074	O75144	ICOSL_HUMAN	Homo sapiens inducible T-cell co-stimulator ligand (ICOSLG), mRNA.	147	Ig-like C2-type.				B cell activation|T cell activation|T cell costimulation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		GGAGGGGCTGTGGGGGGCGCT	0.577												
DGCR8	54487	broad.mit.edu	37	22	20094896	20094896	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:20094895_20094895CG>C	uc002zri.3	+	11	2527	c.2098_2098CG>C	c.(2098-2100)cgtfs	p.R700fs	DGCR8_uc010grz.3_Frame_Shift_Del_p.R667fs|DGCR8_uc002zrj.3_Frame_Shift_Del_p.R343fs	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.	700	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	p.R700L(1)		NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CATGTATGGCCGTGAGAGCAG	0.547												
FAM109B	150368	broad.mit.edu	37	22	42473377	42473378	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chr22:42473376_42473377T>TG	uc003bbz.3	+	2	266_267	c.79_80T>TG	c.(79-81)tggfs	p.W27fs	FAM109B_uc021wqi.1_Frame_Shift_Ins_p.W27fs|C22orf32_uc003bca.3_5'Flank	NM_001002034	NP_001002034	Q6ICB4	SESQ2_HUMAN	Homo sapiens family with sequence similarity 109, member B (FAM109B), mRNA.	27	PH.				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity			endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						CCTGCGCACCTGGGGGGGCCCA	0.634												
SATL1	340562	broad.mit.edu	37	X	84362677	84362677	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:84362676_84362676TG>T	uc004een.3	-	0	1299	c.1299_1299CA>A	c.(1297-1299)ccafs	p.P433fs		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.	246	Acetyl-CoA binding (By similarity).|N-acetyltransferase.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						ACATGCCTGGTGGACTCTTGT	0.562												
TAF7L	54457	broad.mit.edu	37	X	100530217	100530218	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:100530216_100530217A>AT	uc004ehb.3	-	11	1363_1364	c.1337_1338T>AT	c.(1336-1338)aatfs	p.N446fs	TAF7L_uc004eha.3_Frame_Shift_Ins_p.N286fs|TAF7L_uc004ehc.2_Frame_Shift_Ins_p.N360fs	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	446					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TTACCTTCTCATTTTTTTGTTT	0.337												
ARMCX1	51309	broad.mit.edu	37	X	100809163	100809163	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:100809162_100809162CT>C	uc022cak.1	+	0	1249	c.1249_1249CT>C	c.(1249-1251)cttfs	p.L417fs	ARMCX1_uc004ehv.3_Frame_Shift_Del_p.L417fs|ARMCX1_uc004ehw.3_Frame_Shift_Del_p.L417fs	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN	Homo sapiens armadillo repeat containing, X-linked 1 (ARMCX1), mRNA.	417						integral to membrane	binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						CAGAAGTTCACTTTTTTTCTT	0.333												
BHLHB9	80823	broad.mit.edu	37	X	102003967	102003967	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:102003966_102003966GA>G	uc022cbi.1	+	0	43	c.43_43GA>G	c.(43-45)gaafs	p.E15fs	BHLHB9_uc010nog.3_Frame_Shift_Del_p.E15fs|BHLHB9_uc011mrq.2_Frame_Shift_Del_p.E15fs|BHLHB9_uc011mrr.2_Frame_Shift_Del_p.E15fs|BHLHB9_uc011mrs.2_Frame_Shift_Del_p.E15fs|BHLHB9_uc011mrt.2_Frame_Shift_Del_p.E15fs|BHLHB9_uc004ejo.3_Frame_Shift_Del_p.E15fs|BHLHB9_uc011mru.2_Frame_Shift_Del_p.E15fs|BHLHB9_uc011mrv.2_Frame_Shift_Del_p.E15fs	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN	Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA.	15						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGCCAAAACTGAAAAAAAGGC	0.502												
COL4A5	1287	broad.mit.edu	37	X	107834822	107834822	+	Frame_Shift_Del	DEL	C	C	-	rs104886321		TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:107834821_107834821GC>G	uc022ccg.1	+	20	1572	c.1370_1370GC>G	c.(1369-1371)ggcfs	p.G457fs	COL4A5_uc004enz.1_Frame_Shift_Del_p.G457fs|COL4A5_uc004eob.1_Frame_Shift_Del_p.G65fs	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	457	Triple-helical region.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGCCCTCCAGGCCCCCCAGGA	0.408									Alport syndrome with Diffuse Leiomyomatosis			
PNMA3	29944	broad.mit.edu	37	X	152225667	152225668	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:152225666_152225667A>AG	uc022cho.1	+	0	254_255	c.254_255A>AG	c.(253-255)aagfs	p.K85fs	PNMA3_uc004fhc.2_Frame_Shift_Ins_p.K85fs|PNMA3_uc004fhd.3_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA.	85					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					ataccaggaaagggggggccct	0.530												
L1CAM	3897	broad.mit.edu	37	X	153132296	153132296	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:153132295_153132295TG>T	uc004fjb.3	-	17	2348	c.2240_2240CA>A	c.(2239-2241)cagfs	p.Q747fs	L1CAM_uc004fjc.3_Frame_Shift_Del_p.Q747fs|L1CAM_uc010nuo.3_Frame_Shift_Del_p.Q742fs	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	747	Fibronectin type-III 2.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	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)					GTACTGAACCTGGGGGGCGTT	0.657												
SLC10A3	8273	broad.mit.edu	37	X	153716473	153716473	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8363-01A-11D-2340-08	TCGA-BR-8363-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bceffa6-e5c3-4e22-b3a6-cec46af9cdf9	125f7197-7b54-4623-bad0-b0fbd39af62e	g.chrX:153716472_153716472TC>T	uc022cig.1	-	0	808	c.808_808GA>A	c.(808-810)agcfs	p.S270fs	UBL4A_uc004flo.3_5'Flank|SLC10A3_uc004flr.3_Frame_Shift_Del_p.S241fs|SLC10A3_uc004flq.3_Frame_Shift_Del_p.S270fs|SLC10A3_uc004flp.3_Frame_Shift_Del_p.S270fs	NM_019848	NP_062822	P09131	P3_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 3 (SLC10A3), transcript variant 1, mRNA.	270					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGAGGTAGCTCCCCCCGCCG	0.612