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
B3GALT6	126792	broad.mit.edu	37	1	1168142	1168142	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:1168142C>T	uc001adk.2	+	1	514	c.484C>T	c.(484-486)CGG>TGG	p.R162W	SDF4_uc001adh.3_5'Flank|SDF4_uc001adi.3_5'Flank|SDF4_uc009vjv.2_5'Flank|SDF4_uc009vjw.2_5'Flank	NM_080605	NP_542172	Q96L58	B3GT6_HUMAN	beta-1,3-galactosyltransferase 6	162	Lumenal (Potential).				glycosaminoglycan biosynthetic process|protein glycosylation	Golgi cisterna membrane|Golgi medial cisterna|integral to membrane	galactosylxylosylprotein 3-beta-galactosyltransferase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-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;0.199)		CTCCTTCGCGCGGCTGGACGC	0.572												
NADK	65220	broad.mit.edu	37	1	1686048	1686048	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:1686048C>T	uc009vkw.2	-	8	899	c.778G>A	c.(778-780)GGT>AGT	p.G260S	NADK_uc001aic.2_Missense_Mutation_p.G260S|NADK_uc001aid.3_Missense_Mutation_p.G260S|NADK_uc001aie.2_Missense_Mutation_p.G405S|NADK_uc010nyv.1_Missense_Mutation_p.G228S|NADK_uc009vkx.1_Missense_Mutation_p.G138S	NM_023018	NP_075394	O95544	NADK_HUMAN	NAD kinase	260					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein 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;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CCGTTCTCACCCAGCCCATTG	0.657												
PLCH2	9651	broad.mit.edu	37	1	2430252	2430252	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:2430252G>A	uc001aji.1	+	18	2693	c.2419G>A	c.(2419-2421)GTG>ATG	p.V807M	PLCH2_uc010nyz.1_Missense_Mutation_p.V595M|PLCH2_uc009vle.1_Missense_Mutation_p.V559M|PLCH2_uc001ajj.1_Missense_Mutation_p.V595M|PLCH2_uc001ajk.1_Missense_Mutation_p.V595M|PLCH2_uc001ajl.1_Translation_Start_Site	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	807	C2.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GCAGACCCGCGTGGTGGACGA	0.652												
TNFRSF14	8764	broad.mit.edu	37	1	2493160	2493160	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:2493160C>T	uc001ajr.2	+	6	899	c.600C>T	c.(598-600)CAC>CAT	p.H200H	TNFRSF14_uc001ajt.1_3'UTR|TNFRSF14_uc001ajs.2_Intron	NM_003820	NP_003811	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily,	200	Extracellular (Potential).				immune response|interspecies interaction between organisms|T cell costimulation		tumor necrosis factor receptor activity			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		GCAGCTCCCACTGGGTATGGT	0.597			Mis|N|F		follicular lymphoma							
ACTRT2	140625	broad.mit.edu	37	1	2939331	2939331	+	Missense_Mutation	SNP	G	G	A	rs149188311		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:2939331G>A	uc001ajz.2	+	1	1286	c.1081G>A	c.(1081-1083)GCC>ACC	p.A361T		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	actin-related protein M2	361						cytoplasm|cytoskeleton					0	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GTGGGTCACCGCCGCAGACTT	0.607												
PRDM16	63976	broad.mit.edu	37	1	3319366	3319366	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:3319366T>C	uc001akf.2	+	6	768	c.688T>C	c.(688-690)TTC>CTC	p.F230L	PRDM16_uc001akc.2_Missense_Mutation_p.F230L|PRDM16_uc001akd.2_Missense_Mutation_p.F230L|PRDM16_uc001ake.2_Missense_Mutation_p.F230L|PRDM16_uc009vlh.2_5'UTR	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	230	C2H2-type 1; atypical.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GGAGCCCACGTTCCGCTGTGA	0.622			T	EVI1	MDS|AML							
MEGF6	1953	broad.mit.edu	37	1	3425195	3425195	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:3425195G>A	uc001akl.2	-	13	1814	c.1587C>T	c.(1585-1587)AAC>AAT	p.N529N	MEGF6_uc001akk.2_Silent_p.N424N	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	529	EGF-like 9.					extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		AGGTCCCTCCGTTCCTGCAGT	0.637												
MEGF6	1953	broad.mit.edu	37	1	3425664	3425664	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:3425664G>A	uc001akl.2	-	12	1730	c.1503C>T	c.(1501-1503)GGC>GGT	p.G501G	MEGF6_uc001akk.2_Silent_p.G396G	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	501						extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCGTGTGTTCGCCCCGCAACT	0.692												
CHD5	26038	broad.mit.edu	37	1	6184642	6184642	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:6184642G>A	uc001amb.1	-	30	4574	c.4474C>T	c.(4474-4476)CGG>TGG	p.R1492W	CHD5_uc001alz.1_Missense_Mutation_p.R349W|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_Intron	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1492					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)		AGGCCCTCCCGGGGCACGCCG	0.647												
CASZ1	54897	broad.mit.edu	37	1	10713893	10713893	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:10713893A>G	uc001aro.2	-	11	2541	c.2221T>C	c.(2221-2223)TCC>CCC	p.S741P	CASZ1_uc001arp.1_Missense_Mutation_p.S741P|CASZ1_uc009vmx.2_Missense_Mutation_p.S765P	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	741					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CTGGTAGGGGAGGCGCTCAGG	0.662												
VPS13D	55187	broad.mit.edu	37	1	12409351	12409351	+	Silent	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:12409351C>A	uc001atv.2	+	46	9492	c.9351C>A	c.(9349-9351)ACC>ACA	p.T3117T	VPS13D_uc001atw.2_Silent_p.T3092T|VPS13D_uc001atx.2_Silent_p.T2304T	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	3116					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTCATTGGACCAATGTAGTGA	0.473												
AADACL3	126767	broad.mit.edu	37	1	12776289	12776289	+	Translation_Start_Site	SNP	T	T	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:12776289T>A	uc009vnn.1	+	1	172	c.-61T>A	c.(-63--59)GGTTG>GGATG		AADACL3_uc001aug.1_Translation_Start_Site	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3 isoform 1								hydrolase activity				0	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCAGCGGTTGGCCACCCT	0.527												
FBLIM1	54751	broad.mit.edu	37	1	16101262	16101262	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:16101262C>T	uc001axd.1	+	8	1304	c.861C>T	c.(859-861)AAC>AAT	p.N287N	FBLIM1_uc001axe.1_Silent_p.N287N|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axg.1_Silent_p.N287N|FBLIM1_uc001axh.1_Silent_p.N190N|FBLIM1_uc001axi.1_Silent_p.N190N	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	filamin-binding LIM protein-1 isoform a	287	PLEKHC1-binding.|LIM zinc-binding 2.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			skin(1)	1		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		GCAGCCAGAACGAGGTGTACT	0.627												
SPEN	23013	broad.mit.edu	37	1	16235876	16235876	+	Silent	SNP	A	A	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:16235876A>C	uc001axk.1	+	4	1146	c.942A>C	c.(940-942)GCA>GCC	p.A314A	SPEN_uc010obp.1_Silent_p.A273A	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	314	Ser-rich.|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)		AGTCTGCAGCAGTCCCTGCAC	0.458												
NBPF1	55672	broad.mit.edu	37	1	16893738	16893738	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:16893738C>T	uc009vos.1	-	26	3888	c.3000G>A	c.(2998-3000)CAG>CAA	p.Q1000Q	NBPF1_uc009vot.1_Silent_p.Q383Q|NBPF1_uc001ayz.1_Silent_p.Q383Q|NBPF1_uc010oce.1_Silent_p.Q654Q	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	hypothetical protein LOC55672	1000	NBPF 6.					cytoplasm					0				UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TTCTGTAGGGCTGGCATGAGT	0.478												
CROCC	9696	broad.mit.edu	37	1	17297237	17297237	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:17297237C>T	uc001azt.2	+	35	5828	c.5759C>T	c.(5758-5760)GCG>GTG	p.A1920V	CROCC_uc001azu.2_Missense_Mutation_p.A1223V|CROCC_uc001azv.2_Missense_Mutation_p.A256V	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	1920					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CTGGCAGAGGCGCAGAGGCAG	0.637												
PADI4	23569	broad.mit.edu	37	1	17634769	17634769	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:17634769G>A	uc001baj.2	+	1	80	c.52G>A	c.(52-54)GTG>ATG	p.V18M	PADI4_uc009vpc.2_Missense_Mutation_p.V18M	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	18					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CACCCATGCCGTGTGTGTGCT	0.617												
PLA2G2E	30814	broad.mit.edu	37	1	20246820	20246820	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:20246820C>A	uc001bct.1	-	4	467	c.409G>T	c.(409-411)GGG>TGG	p.G137W		NM_014589	NP_055404	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE precursor	137					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity				0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGTGGGCCCGGTGCACAGC	0.657												
MUL1	79594	broad.mit.edu	37	1	20827268	20827268	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:20827268T>C	uc001bdi.3	-	4	1131	c.974A>G	c.(973-975)GAG>GGG	p.E325G		NM_024544	NP_078820	Q969V5	MUL1_HUMAN	mitochondrial ubiquitin ligase activator of NFKB	325	Cytoplasmic (Potential).|RING-type.				activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding				0		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		GCGGTAGCACTCGGTGCAGGA	0.572												
ECE1	1889	broad.mit.edu	37	1	21605716	21605716	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:21605716C>T	uc001bek.2	-	3	323	c.248G>A	c.(247-249)TGC>TAC	p.C83Y	ECE1_uc001bem.2_Missense_Mutation_p.C67Y|ECE1_uc001bej.2_Missense_Mutation_p.C71Y|ECE1_uc001bei.2_Missense_Mutation_p.C80Y|ECE1_uc010odl.1_Missense_Mutation_p.C83Y|ECE1_uc009vqa.1_Missense_Mutation_p.C83Y|uc001ben.1_5'Flank	NM_001397	NP_001388	P42892	ECE1_HUMAN	endothelin converting enzyme 1 isoform 1	83	Helical; Signal-anchor for type II membrane protein; (Potential).				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			ovary(2)|skin(1)	3		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		TGCTGCCAAGCAGGCCACCAG	0.652												
USP48	84196	broad.mit.edu	37	1	22048163	22048163	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:22048163C>T	uc001bfb.2	-	13	1981	c.1743G>A	c.(1741-1743)CTG>CTA	p.L581L	USP48_uc001bfa.2_Silent_p.L120L|USP48_uc010odq.1_Silent_p.L580L|USP48_uc009vqc.2_Silent_p.L515L|USP48_uc001bfc.2_Silent_p.L581L|USP48_uc001bfe.1_Silent_p.L580L	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	ubiquitin specific protease 48 isoform a	581	DUSP 2.				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		CTGCTTTCAGCAGATTATTAA	0.358												
HSPG2	3339	broad.mit.edu	37	1	22157779	22157779	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:22157779C>T	uc001bfj.2	-	84	11531	c.11491G>A	c.(11491-11493)GTC>ATC	p.V3831I	HSPG2_uc001bfi.2_5'Flank|HSPG2_uc009vqd.2_Missense_Mutation_p.V3832I	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	3831	Laminin G-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TCATGGAAGACGATCTCCTCG	0.677												
MYOM3	127294	broad.mit.edu	37	1	24383880	24383880	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:24383880C>T	uc001bin.3	-	37	4451	c.4288G>A	c.(4288-4290)GAG>AAG	p.E1430K	MYOM3_uc001bil.3_Missense_Mutation_p.E323K|MYOM3_uc001bim.3_Missense_Mutation_p.E1087K	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	1430										skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCCTTGGGCTCGTCCCCGTGC	0.577												
SEPN1	57190	broad.mit.edu	37	1	26131655	26131655	+	Silent	SNP	C	C	T	rs141295085	by1000genomes	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:26131655C>T	uc010oer.1	+	6	481	c.426C>T	c.(424-426)TGC>TGT	p.C142C	SEPN1_uc010oes.1_Silent_p.C108C	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN	selenoprotein N, 1 isoform 1 precursor	142						endoplasmic reticulum membrane|extracellular region	protein binding			ovary(2)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		CGGCCAGCTGCGAGGAGGAGG	0.597												
UBXN11	91544	broad.mit.edu	37	1	26609150	26609150	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:26609150C>T	uc001blw.2	-	15	1555	c.1282G>A	c.(1282-1284)GCG>ACG	p.A428T	UBXN11_uc001blz.1_Missense_Mutation_p.A395T|UBXN11_uc001blv.2_Missense_Mutation_p.A390T|UBXN11_uc001bly.2_Missense_Mutation_p.A308T|UBXN11_uc001blx.2_Missense_Mutation_p.A186T|UBXN11_uc001bma.2_Missense_Mutation_p.A395T|UBXN11_uc001bmb.1_Missense_Mutation_p.A428T	NM_183008	NP_892120	Q5T124	UBX11_HUMAN	socius isoform 2	428	UBX.					cytoplasm|cytoskeleton				ovary(1)	1						CTGGCCTGCGCTAGCAGAGCT	0.637												
ARID1A	8289	broad.mit.edu	37	1	27101099	27101099	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:27101099C>T	uc001bmv.1	+	18	4754	c.4381C>T	c.(4381-4383)CGA>TGA	p.R1461*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.R1460*|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Nonsense_Mutation_p.R1078*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.R307*|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1461					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)		CCAGTTTGGCCGAGACCGTGT	0.582			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC							
ARID1A	8289	broad.mit.edu	37	1	27107205	27107205	+	Silent	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:27107205A>G	uc001bmv.1	+	20	7189	c.6816A>G	c.(6814-6816)TCA>TCG	p.S2272S	ARID1A_uc001bmu.1_Silent_p.S2055S|ARID1A_uc001bmx.1_Silent_p.S1118S|ARID1A_uc009vsm.1_Silent_p.S600S|ARID1A_uc009vsn.1_Silent_p.S514S	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	2272					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)		CATTGGTTTCACAAGTCATTT	0.502			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC							
NR0B2	8431	broad.mit.edu	37	1	27238427	27238427	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:27238427G>A	uc001bnf.2	-	2	819	c.683C>T	c.(682-684)CCG>CTG	p.P228L		NM_021969	NP_068804	Q15466	NR0B2_HUMAN	short heterodimer partner	228	Ligand-binding (By similarity).				cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity				0		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CAGGCTGGTCGGAATGGACTT	0.597												
PTPRU	10076	broad.mit.edu	37	1	29650164	29650164	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:29650164G>A	uc001bru.2	+	29	4116	c.4006G>A	c.(4006-4008)GTG>ATG	p.V1336M	PTPRU_uc001brv.2_Missense_Mutation_p.V1332M|PTPRU_uc001brw.2_Missense_Mutation_p.V1326M|PTPRU_uc009vtq.2_Missense_Mutation_p.V1330M|PTPRU_uc009vtr.2_Missense_Mutation_p.V1323M|PTPRU_uc001brx.2_Missense_Mutation_p.V62M	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1336	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GCACCTGCTGGTGCGGCACTT	0.632												
PUM1	9698	broad.mit.edu	37	1	31479860	31479860	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:31479860G>A	uc001bsi.1	-	4	635	c.522C>T	c.(520-522)GAC>GAT	p.D174D	PUM1_uc001bsg.1_5'Flank|PUM1_uc001bsh.1_Silent_p.D174D|PUM1_uc001bsj.1_Silent_p.D174D|PUM1_uc010oga.1_Intron|PUM1_uc001bsk.1_Silent_p.D210D|PUM1_uc010ogb.1_Intron	NM_014676	NP_055491	Q14671	PUM1_HUMAN	pumilio 1 isoform 2	174					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)		CCCAGGCACTGTCTCGCCATT	0.428												
COL16A1	1307	broad.mit.edu	37	1	32163529	32163529	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:32163529G>A	uc001btk.1	-	6	1000	c.635C>T	c.(634-636)GCT>GTT	p.A212V	COL16A1_uc001btj.1_Missense_Mutation_p.A41V|COL16A1_uc001btl.3_Missense_Mutation_p.A212V	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	212	TSP N-terminal.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GCCCTGCTCAGCATCCAAGCC	0.527												
TMEM39B	55116	broad.mit.edu	37	1	32568108	32568108	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:32568108A>G	uc010ogv.1	+	9	1459	c.1313A>G	c.(1312-1314)TAC>TGC	p.Y438C	TMEM39B_uc001bue.3_Missense_Mutation_p.Y439C|TMEM39B_uc001buf.3_Missense_Mutation_p.Y239C|TMEM39B_uc010ogw.1_Missense_Mutation_p.Y239C	NM_018056	NP_060526	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	438	Helical; (Potential).					integral to membrane					0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TATCAGCTGTACTCCCTAATG	0.562												
KIAA1522	57648	broad.mit.edu	37	1	33235543	33235543	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:33235543C>T	uc001bvv.2	+	6	722	c.586C>T	c.(586-588)CGC>TGC	p.R196C	KIAA1522_uc001bvu.1_Missense_Mutation_p.R255C|KIAA1522_uc010ohm.1_Missense_Mutation_p.R207C|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	hypothetical protein LOC57648	196											0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GGATGCCGTACGCATCCCCAC	0.721												
S100PBP	64766	broad.mit.edu	37	1	33291708	33291708	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:33291708G>A	uc001bvz.2	+	3	285	c.8G>A	c.(7-9)TGC>TAC	p.C3Y	S100PBP_uc001bwa.1_Missense_Mutation_p.C3Y|S100PBP_uc001bwb.1_Missense_Mutation_p.C3Y|S100PBP_uc001bwc.2_Missense_Mutation_p.C3Y|S100PBP_uc001bwd.2_RNA	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	S100P binding protein isoform a	3						nucleus	calcium-dependent protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GAAATGATGTGCTCACGGGTG	0.438												
RNF19B	127544	broad.mit.edu	37	1	33402698	33402698	+	Silent	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:33402698G>T	uc010oho.1	-	9	1908	c.1908C>A	c.(1906-1908)CCC>CCA	p.P636P	RNF19B_uc001bwm.3_3'UTR|RNF19B_uc010ohp.1_Silent_p.P635P	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B isoform a	636						integral to membrane	ligase activity|protein binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGTGTCTGCAGGGGGGATCCT	0.557												
RNF19B	127544	broad.mit.edu	37	1	33407887	33407887	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:33407887C>T	uc010oho.1	-	7	1579	c.1579G>A	c.(1579-1581)GGC>AGC	p.G527S	RNF19B_uc001bwm.3_Missense_Mutation_p.G526S|RNF19B_uc010ohp.1_Missense_Mutation_p.G526S	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B isoform a	527						integral to membrane	ligase activity|protein binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GAGAGAATGCCGCCACTCAGC	0.458												
GJB3	2707	broad.mit.edu	37	1	35250436	35250436	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:35250436C>T	uc001bxx.2	+	2	688	c.73C>T	c.(73-75)CTG>TTG	p.L25L	GJB3_uc001bxy.2_Silent_p.L25L|GJB3_uc001bxz.3_Silent_p.L25L|uc010ohs.1_RNA	NM_024009	NP_076872	O75712	CXB3_HUMAN	connexin 31	25	Helical; (Potential).				cell communication	connexon complex|integral to membrane	gap junction channel activity				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GCGCATCTGGCTGTCCGTGGT	0.622												
SFPQ	6421	broad.mit.edu	37	1	35650166	35650166	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:35650166G>A	uc001bys.2	-	10	2108	c.2015C>T	c.(2014-2016)GCG>GTG	p.A672V	SFPQ_uc001byr.2_Intron	NM_005066	NP_005057	P23246	SFPQ_HUMAN	splicing factor proline/glutamine rich	672					alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|protein binding|RNA binding		SFPQ/TFE3(6)	kidney(4)|soft_tissue(2)|ovary(1)|skin(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CACAGGCCCCGCACCTCCCTG	0.478			T	TFE3	papillary renal cell							
NCDN	23154	broad.mit.edu	37	1	36026428	36026428	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:36026428A>G	uc001bza.2	+	4	803	c.676A>G	c.(676-678)AGT>GGT	p.S226G	KIAA0319L_uc010ohw.1_5'Flank|NCDN_uc001bzb.2_Missense_Mutation_p.S226G|NCDN_uc001bzc.2_Missense_Mutation_p.S209G	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN	neurochondrin isoform 1	226					neuron projection development	cytosol|dendrite|neuronal cell body				large_intestine(2)|pancreas(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCGGGGCCTCAGTGAGGATTT	0.642												
ZC3H12A	80149	broad.mit.edu	37	1	37948942	37948942	+	Silent	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:37948942A>G	uc001cbb.3	+	6	1680	c.1530A>G	c.(1528-1530)CCA>CCG	p.P510P	ZC3H12A_uc001cbc.1_Silent_p.P305P	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	510	Pro-rich.				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGCCTTTCCACCTCGAGAGT	0.672												
C1orf109	54955	broad.mit.edu	37	1	38155444	38155444	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:38155444G>A	uc001cbp.2	-	2	299	c.109C>T	c.(109-111)CCC>TCC	p.P37S	C1orf109_uc010oig.1_Missense_Mutation_p.P100S|C1orf109_uc001cbo.2_Missense_Mutation_p.P99S|C1orf109_uc001cbq.1_Missense_Mutation_p.P37S|CDCA8_uc001cbr.2_5'Flank|CDCA8_uc001cbs.2_5'Flank	NM_017850	NP_060320	Q9NX04	CA109_HUMAN	hypothetical protein LOC54955	37											0		Myeloproliferative disorder(586;0.0393)				GACAGGAGGGGCTGGCAGTCC	0.652												
GJA9	81025	broad.mit.edu	37	1	39341336	39341336	+	Silent	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:39341336A>G	uc001cct.1	-	2	716	c.435T>C	c.(433-435)AAT>AAC	p.N145N	RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank	NM_030772	NP_110399	P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	145	Cytoplasmic (Potential).				cell communication	connexon complex|integral to membrane					0	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			GTGGAGCTTTATTTAGTTTCC	0.428												
MACF1	23499	broad.mit.edu	37	1	39888401	39888401	+	Splice_Site	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:39888401G>T	uc010oiu.1	+	24	11430	c.11299_splice	c.e24-1	p.V3767_splice	MACF1_uc010ois.1_Splice_Site_p.V3265_splice|MACF1_uc001cda.1_Splice_Site_p.V3152_splice|MACF1_uc001cdc.1_Splice_Site_p.V2331_splice	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker						cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCATGATACAGGTCGCACAAA	0.403												
HIVEP3	59269	broad.mit.edu	37	1	42048952	42048952	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:42048952C>T	uc001cgz.3	-	4	2730	c.1517G>A	c.(1516-1518)CGG>CAG	p.R506Q	HIVEP3_uc001cha.3_Missense_Mutation_p.R506Q|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	506	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CAGGGGCTCCCGGTAGAGGCT	0.627												
HIVEP3	59269	broad.mit.edu	37	1	42049693	42049693	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:42049693T>C	uc001cgz.3	-	4	1989	c.776A>G	c.(775-777)TAC>TGC	p.Y259C	HIVEP3_uc001cha.3_Missense_Mutation_p.Y259C|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	259	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CCCATGTGGGTACATCTCGCC	0.562												
SLC6A9	6536	broad.mit.edu	37	1	44466469	44466469	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:44466469G>A	uc001cll.2	-	12	1917	c.1725C>T	c.(1723-1725)TGC>TGT	p.C575C	SLC6A9_uc009vxe.2_Silent_p.C431C|SLC6A9_uc010okm.1_Silent_p.L532L|SLC6A9_uc001clm.2_Silent_p.C521C|SLC6A9_uc009vxd.2_RNA|SLC6A9_uc010okn.1_Silent_p.C506C|SLC6A9_uc001cln.2_Silent_p.C502C|SLC6A9_uc010oko.1_Silent_p.C391C|SLC6A9_uc010okp.1_RNA	NM_201649	NP_964012	P48067	SC6A9_HUMAN	solute carrier family 6 member 9 isoform 2	575	Helical; Name=11; (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)	CGAAGCGCCAGCAGATCTGAA	0.622												
KLF17	128209	broad.mit.edu	37	1	44595230	44595230	+	Missense_Mutation	SNP	G	G	A	rs147552179		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:44595230G>A	uc001clp.2	+	2	345	c.287G>A	c.(286-288)CGT>CAT	p.R96H	KLF17_uc009vxf.1_Missense_Mutation_p.R59H	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	zinc finger protein 393	96					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)					CTGCCTGAGCGTGGTATGAGC	0.567												
STIL	6491	broad.mit.edu	37	1	47716920	47716920	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:47716920A>G	uc001crc.1	-	17	3907	c.3752T>C	c.(3751-3753)ATT>ACT	p.I1251T	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.I1205T|STIL_uc010omo.1_Missense_Mutation_p.I1234T|STIL_uc001crd.1_Missense_Mutation_p.I1252T|STIL_uc001cre.1_Missense_Mutation_p.I1251T	NM_003035	NP_003026	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 2	1251					cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TTCAGGAAAAATTGTAATGTC	0.403												
ZCCHC11	23318	broad.mit.edu	37	1	52961127	52961127	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:52961127A>G	uc001ctx.2	-	6	1472	c.1238T>C	c.(1237-1239)GTT>GCT	p.V413A	ZCCHC11_uc001cty.2_Missense_Mutation_p.V413A|ZCCHC11_uc001ctz.2_Missense_Mutation_p.V413A|ZCCHC11_uc009vze.1_Missense_Mutation_p.V413A|ZCCHC11_uc009vzf.1_Missense_Mutation_p.V172A|ZCCHC11_uc001cub.2_Missense_Mutation_p.V413A|ZCCHC11_uc001cuc.2_RNA	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	413					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						ATCTATATTAACATCACTACT	0.318												
GPX7	2882	broad.mit.edu	37	1	53068182	53068182	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:53068182G>A	uc001cue.2	+	1	140	c.101G>A	c.(100-102)CGG>CAG	p.R34Q		NM_015696	NP_056511	Q96SL4	GPX7_HUMAN	glutathione peroxidase 7 precursor	34					response to oxidative stress	extracellular region	glutathione peroxidase activity				0					Glutathione(DB00143)	GTCAACATCCGGGGCAAACTG	0.721												
CPT2	1376	broad.mit.edu	37	1	53676142	53676142	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:53676142C>A	uc001cvb.3	+	4	1311	c.796C>A	c.(796-798)CCC>ACC	p.P266T		NM_000098	NP_000089	P23786	CPT2_HUMAN	carnitine O-palmitoyltransferase precursor	266	Mitochondrial matrix (By similarity).				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity				0					L-Carnitine(DB00583)|Perhexiline(DB01074)	CATTGTGAGCCCCTCGGAAAT	0.502												
TMEM48	55706	broad.mit.edu	37	1	54266463	54266463	+	Silent	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:54266463A>G	uc001cvs.2	-	11	1366	c.1125T>C	c.(1123-1125)GGT>GGC	p.G375G	TMEM48_uc010onu.1_Silent_p.G335G|TMEM48_uc001cvt.2_Silent_p.G252G|TMEM48_uc009vzk.2_RNA|TMEM48_uc010onv.1_Silent_p.G40G	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	transmembrane protein 48	375	Cytoplasmic (Potential).				mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			ovary(1)|pancreas(1)	2						TCTGAGTCATACCATTTAAAA	0.398												
ACOT11	26027	broad.mit.edu	37	1	55058251	55058251	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:55058251T>C	uc001cxm.1	+	4	426	c.344T>C	c.(343-345)GTG>GCG	p.V115A	ACOT11_uc001cxj.1_5'UTR|ACOT11_uc001cxk.2_Missense_Mutation_p.V81A|ACOT11_uc001cxl.1_Missense_Mutation_p.V115A	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	thioesterase, adipose associated isoform BFIT1	115	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			central_nervous_system(1)	1						AAGGCCAAGGTGAACCGGGCC	0.592												
TTC4	7268	broad.mit.edu	37	1	55186845	55186845	+	Missense_Mutation	SNP	G	G	A	rs78775654		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:55186845G>A	uc001cxx.3	+	4	454	c.401G>A	c.(400-402)CGT>CAT	p.R134H	C1orf175_uc001cxq.2_RNA|TTC4_uc001cxw.3_Missense_Mutation_p.R134H|TTC4_uc001cxv.2_Missense_Mutation_p.R145H	NM_004623	NP_004614	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	134	TPR 2.						binding				0						GGCAATTTTCGTTCTGCTCTC	0.308												
USP24	23358	broad.mit.edu	37	1	55548945	55548945	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:55548945C>A	uc001cyg.3	-	55	6495	c.6495G>T	c.(6493-6495)CAG>CAT	p.Q2165H		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	2325					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13						TAGTCCTTACCTGATTGTTTT	0.423												
ALG6	29929	broad.mit.edu	37	1	63876940	63876940	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:63876940C>T	uc010oow.1	+	8	923	c.618C>T	c.(616-618)CAC>CAT	p.H206H	ALG6_uc001daz.2_RNA|ALG6_uc009waj.2_RNA|ALG6_uc010oox.1_Silent_p.H5H	NM_013339	NP_037471	Q9Y672	ALG6_HUMAN	dolichyl pyrophosphate Man9GlcNAc2	206					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity				0						AACTTTACCACGCCTTGCCAT	0.383												
LEPR	3953	broad.mit.edu	37	1	66088619	66088619	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:66088619G>A	uc001dci.2	+	19	2830	c.2628G>A	c.(2626-2628)CCG>CCA	p.P876P	LEPR_uc001dcg.2_Silent_p.P876P|LEPR_uc001dch.2_Silent_p.P876P|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Silent_p.P876P|LEPR_uc001dck.2_Silent_p.P876P	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	876	Box 1 motif.|Cytoplasmic (Potential).				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AAGATGTTCCGAACCCCAAGA	0.348												
SLC44A5	204962	broad.mit.edu	37	1	75679397	75679397	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:75679397G>T	uc001dgu.2	-	22	2099	c.1955C>A	c.(1954-1956)CCT>CAT	p.P652H	SLC44A5_uc001dgt.2_Missense_Mutation_p.P652H|SLC44A5_uc001dgs.2_Missense_Mutation_p.P610H|SLC44A5_uc001dgr.2_Missense_Mutation_p.P610H|SLC44A5_uc010oqz.1_Missense_Mutation_p.P691H|SLC44A5_uc010ora.1_Missense_Mutation_p.P646H|SLC44A5_uc010orb.1_Missense_Mutation_p.P522H	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5 isoform A	652	Helical; (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			ovary(2)|skin(2)	4						TACCAGCAAAGGTACCCAGTA	0.259												
ZNF644	84146	broad.mit.edu	37	1	91405532	91405532	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:91405532C>T	uc001dnw.2	-	3	1521	c.1379G>A	c.(1378-1380)CGC>CAC	p.R460H	ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.R460H	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	460	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AAGTGAATTGCGATCTCGAAA	0.393												
HIAT1	64645	broad.mit.edu	37	1	100534100	100534100	+	Silent	SNP	G	G	A	rs35739983		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:100534100G>A	uc001dst.2	+	7	777	c.777G>A	c.(775-777)CCG>CCA	p.P259P		NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	259	Helical; Name=7; (Potential).				transmembrane transport	integral to membrane|plasma membrane	transporter activity				0		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		CCTACCTACCGGAGGCAGGCC	0.383												
SLC30A7	148867	broad.mit.edu	37	1	101440402	101440402	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:101440402G>A	uc001dtn.2	+	11	1307	c.1120G>A	c.(1120-1122)GCA>ACA	p.A374T	SLC30A7_uc001dto.2_Missense_Mutation_p.A374T	NM_001144884	NP_001138356	Q8NEW0	ZNT7_HUMAN	zinc transporter like 2	374	Cytoplasmic (Potential).				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding				0		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		GATTGACTTTGCAGCCATGTA	0.358												
S1PR1	1901	broad.mit.edu	37	1	101705500	101705500	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:101705500G>A	uc001dud.2	+	2	1474	c.960G>A	c.(958-960)CGG>CGA	p.R320R	S1PR1_uc009weg.2_Silent_p.R320R	NM_001400	NP_001391	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	320	Cytoplasmic (By similarity).				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)	3						AGATGCGTCGGGCCTTCATCC	0.562												
COL11A1	1301	broad.mit.edu	37	1	103453196	103453196	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:103453196C>T	uc001dul.2	-	30	2813	c.2495G>A	c.(2494-2496)GGA>GAA	p.G832E	COL11A1_uc001duk.2_Missense_Mutation_p.E23K|COL11A1_uc001dum.2_Missense_Mutation_p.G844E|COL11A1_uc001dun.2_Missense_Mutation_p.G793E|COL11A1_uc009weh.2_Missense_Mutation_p.G716E	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	832	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AACCTTTTCTCCTGCTTGACC	0.448												
NTNG1	22854	broad.mit.edu	37	1	107867369	107867369	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:107867369C>T	uc001dvh.3	+	3	1430	c.712C>T	c.(712-714)CGC>TGC	p.R238C	NTNG1_uc001dvf.3_Missense_Mutation_p.R238C|NTNG1_uc010out.1_Missense_Mutation_p.R238C|NTNG1_uc001dvc.3_Missense_Mutation_p.R238C|NTNG1_uc001dvd.1_Missense_Mutation_p.R238C	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	238	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ACCTCGCCTACGCAATATGGC	0.438												
FAM102B	284611	broad.mit.edu	37	1	109143275	109143275	+	Silent	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:109143275A>G	uc010ouy.1	+	2	305	c.225A>G	c.(223-225)CTA>CTG	p.L75L		NM_001010883	NP_001010883	Q5T8I3	F102B_HUMAN	hypothetical protein LOC284611	75										large_intestine(1)	1		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		CAGGCATCCTAGATCCTTGTA	0.433												
C1orf59	113802	broad.mit.edu	37	1	109192991	109192991	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:109192991G>A	uc001dvt.3	-	7	836	c.598C>T	c.(598-600)CGC>TGC	p.R200C	C1orf59_uc001dvu.3_Missense_Mutation_p.R200C|C1orf59_uc009wer.2_Missense_Mutation_p.R200C	NM_001102592	NP_001096062	Q5T8I9	HENMT_HUMAN	hypothetical protein LOC113802	200					gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity				0		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0152)|Lung(183;0.0895)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.163)		TAATCATAGCGATTTGCCACA	0.428												
PRPF38B	55119	broad.mit.edu	37	1	109235364	109235364	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:109235364G>T	uc001dvv.3	+	1	433	c.151G>T	c.(151-153)GGC>TGC	p.G51C	PRPF38B_uc001dvw.3_5'UTR|PRPF38B_uc010ouz.1_5'UTR	NM_018061	NP_060531	Q5VTL8	PR38B_HUMAN	PRP38 pre-mRNA processing factor 38 (yeast)	51					mRNA processing|RNA splicing	spliceosomal complex					0		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		CCCGCTCTGGGGCAACGAGAA	0.433												
KCNA3	3738	broad.mit.edu	37	1	111216961	111216961	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:111216961G>A	uc001dzv.1	-	1	695	c.471C>T	c.(469-471)GAC>GAT	p.D157D		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	157						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)		AGAGGATGGCGTCGAAGCTGG	0.642												
TTF2	8458	broad.mit.edu	37	1	117629087	117629087	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:117629087G>T	uc001egy.2	+	12	2123	c.2103G>T	c.(2101-2103)AAG>AAT	p.K701N		NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase	701	Helicase ATP-binding.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TCGTGGCCAAGGAGATTCCCA	0.507												
WDR3	10885	broad.mit.edu	37	1	118492448	118492448	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:118492448T>A	uc010oxe.1	+	14	1665	c.1599T>A	c.(1597-1599)AGT>AGA	p.S533R	WDR3_uc001ehi.2_Intron	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	WD repeat-containing protein 3	533	WD 9.					nuclear membrane|nucleolus				upper_aerodigestive_tract(1)	1	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		ATGAAAATAGTACCCAAAAGA	0.363												
NOTCH2	4853	broad.mit.edu	37	1	120497755	120497755	+	Silent	SNP	G	G	A	rs141051853		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:120497755G>A	uc001eik.2	-	13	2383	c.2127C>T	c.(2125-2127)CCC>CCT	p.P709P	NOTCH2_uc001eil.2_Silent_p.P709P|NOTCH2_uc001eim.3_Silent_p.P626P	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	709	EGF-like 18; calcium-binding (Potential).|Extracellular (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGGTCCCTCGGGGCATATAC	0.527			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome			
PEX11B	8799	broad.mit.edu	37	1	145518235	145518235	+	Missense_Mutation	SNP	C	C	T	rs150236235		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:145518235C>T	uc001eny.1	+	3	355	c.337C>T	c.(337-339)CGT>TGT	p.R113C	NBPF10_uc001emp.3_Intron|GNRHR2_uc009wiv.1_5'Flank|GNRHR2_uc010oyt.1_5'Flank|GNRHR2_uc001enx.2_5'Flank|PEX11B_uc010oyu.1_Missense_Mutation_p.R99C	NM_003846	NP_003837	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	113					peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding				0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACTGGCTCCCCGTGTGGATCA	0.468												
SV2A	9900	broad.mit.edu	37	1	149881071	149881071	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:149881071G>A	uc001etg.2	-	7	1723	c.1232C>T	c.(1231-1233)TCG>TTG	p.S411L	SV2A_uc009wlk.2_5'Flank|SV2A_uc001eth.2_Missense_Mutation_p.S411L	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	411	Cytoplasmic (Potential).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CCCTGTGTCCGACTGGATCTC	0.572												
PRPF3	9129	broad.mit.edu	37	1	150305577	150305577	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:150305577G>A	uc001eum.3	+	6	797	c.635G>A	c.(634-636)CGA>CAA	p.R212Q	PRPF3_uc009wlp.2_RNA|PRPF3_uc010pca.1_Missense_Mutation_p.R171Q|PRPF3_uc010pcb.1_Missense_Mutation_p.R163Q|PRPF3_uc009wlq.1_RNA	NM_004698	NP_004689	O43395	PRPF3_HUMAN	PRP3 pre-mRNA processing factor 3 homolog	212					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			ovary(1)	1	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CTGCAAGCTCGAATCCAAGCC	0.547												
ECM1	1893	broad.mit.edu	37	1	150485747	150485747	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:150485747G>A	uc001eus.2	+	10	1626	c.1427G>A	c.(1426-1428)CGA>CAA	p.R476Q	ECM1_uc001eut.2_Missense_Mutation_p.R351Q|ECM1_uc001euu.2_Missense_Mutation_p.R505Q|ECM1_uc001euv.2_Missense_Mutation_p.R503Q|ECM1_uc009wlu.2_Missense_Mutation_p.R236Q	NM_004425	NP_004416	Q16610	ECM1_HUMAN	extracellular matrix protein 1 isoform 1	476					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGTGGTCCCCGACGTAACATC	0.478												
PI4KB	5298	broad.mit.edu	37	1	151280270	151280270	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:151280270C>T	uc001ext.2	-	4	1377	c.962G>A	c.(961-963)CGA>CAA	p.R321Q	PI4KB_uc001exr.2_Missense_Mutation_p.R333Q|PI4KB_uc001exs.2_Missense_Mutation_p.R306Q|PI4KB_uc001exu.2_Missense_Mutation_p.R306Q|PI4KB_uc010pcw.1_5'UTR	NM_002651	NP_002642	Q9UBF8	PI4KB_HUMAN	catalytic phosphatidylinositol 4-kinase beta	321					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			ovary(2)|skin(2)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGGAGCCAGTCGAACAGGCTA	0.547												
CGN	57530	broad.mit.edu	37	1	151491113	151491113	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:151491113C>T	uc009wmw.2	+	2	262	c.118C>T	c.(118-120)CGA>TGA	p.R40*		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	34	Head.					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)			TCGAGGTGGACGACGCCCAGC	0.607												
TCHH	7062	broad.mit.edu	37	1	152080843	152080843	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:152080843C>T	uc001ezp.2	-	2	4850	c.4850G>A	c.(4849-4851)CGC>CAC	p.R1617H	TCHH_uc009wne.1_Missense_Mutation_p.R1617H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1617	23 X 26 AA approximate tandem repeats.			Missing (in Ref. 1; AAA65582).	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)			TTTTCTGTCGCGCTCCTGGCG	0.577												
TCHH	7062	broad.mit.edu	37	1	152082357	152082357	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:152082357C>A	uc001ezp.2	-	2	3336	c.3336G>T	c.(3334-3336)GAG>GAT	p.E1112D	TCHH_uc009wne.1_Missense_Mutation_p.E1112D	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1112	10 X 30 AA tandem repeats.|4-7.				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)			gctcctcttcctccCGACATT	0.174												
FLG2	388698	broad.mit.edu	37	1	152325220	152325220	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:152325220T>C	uc001ezw.3	-	3	5115	c.5042A>G	c.(5041-5043)CAT>CGT	p.H1681R	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1681							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTGTCCATGTTGAGATCC	0.478												
FLG2	388698	broad.mit.edu	37	1	152327682	152327682	+	Silent	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:152327682T>C	uc001ezw.3	-	3	2653	c.2580A>G	c.(2578-2580)CAA>CAG	p.Q860Q	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	860	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGACCCATGTTGACCATAGC	0.498												
INTS3	65123	broad.mit.edu	37	1	153730118	153730118	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:153730118A>G	uc009wom.2	+	11	1249	c.1028A>G	c.(1027-1029)CAG>CGG	p.Q343R	INTS3_uc001fct.2_Missense_Mutation_p.Q343R|INTS3_uc001fcu.2_Missense_Mutation_p.Q35R|INTS3_uc001fcv.2_Missense_Mutation_p.Q137R|INTS3_uc010peb.1_Missense_Mutation_p.Q137R|INTS3_uc001fcw.2_5'UTR|INTS3_uc010pec.1_5'UTR	NM_023015	NP_075391	Q68E01	INT3_HUMAN	integrator complex subunit 3	344					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCAGATAGTCAGTCTCTGCGC	0.502												
DENND4B	9909	broad.mit.edu	37	1	153904887	153904887	+	Silent	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:153904887T>C	uc001fdd.1	-	24	4190	c.3789A>G	c.(3787-3789)GCA>GCG	p.A1263A	uc001fdc.1_Intron	NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1263										ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGTATGCCCATGCCCCACTCT	0.642												
ZBTB7B	51043	broad.mit.edu	37	1	154987334	154987334	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:154987334C>T	uc001fgk.3	+	3	356	c.198C>T	c.(196-198)GGC>GGT	p.G66G	ZBTB7B_uc009wpa.2_Silent_p.G66G|ZBTB7B_uc001fgj.3_Silent_p.G100G|ZBTB7B_uc010peq.1_Silent_p.G100G|ZBTB7B_uc001fgl.3_Silent_p.G66G	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	66	BTB.				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding				0	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCACTGAGGGCGGTGGCGGAG	0.632												
TRIM46	80128	broad.mit.edu	37	1	155154492	155154492	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:155154492G>A	uc001fhs.1	+	9	1836	c.1753G>A	c.(1753-1755)GTG>ATG	p.V585M	RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.V459M|TRIM46_uc001fhu.1_Missense_Mutation_p.V562M|TRIM46_uc009wpg.1_Missense_Mutation_p.V572M|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	585	B30.2/SPRY.					intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTGGGCGACGTGGCTGTGAC	0.557												
HCN3	57657	broad.mit.edu	37	1	155254532	155254532	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:155254532G>A	uc001fjz.1	+	4	1081	c.1073G>A	c.(1072-1074)CGT>CAT	p.R358H	RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Missense_Mutation_p.R53H	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	358	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCTTCCCGGCGTCAGTACCAG	0.592												
PKLR	5313	broad.mit.edu	37	1	155265010	155265010	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:155265010C>T	uc001fkb.3	-	5	630	c.591G>A	c.(589-591)GCG>GCA	p.A197A	RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Silent_p.A166A	NM_000298	NP_000289	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC isoform 1	197					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			skin(4)|ovary(1)	5	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	ACACGGTGTTCGCGTTCCCCC	0.632												
PMF1	11243	broad.mit.edu	37	1	156206195	156206195	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:156206195T>G	uc001fnq.2	+	4	508	c.485T>G	c.(484-486)CTG>CGG	p.L162R	PMF1_uc001fnr.2_Missense_Mutation_p.W142G|BGLAP_uc001fns.1_Intron	NM_007221	NP_009152	Q6P1K2	PMF1_HUMAN	polyamine-modulated factor 1	162	Potential.				cell division|chromosome segregation|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytosol|MIS12/MIND type complex|transcription factor complex	leucine zipper domain binding|transcription coactivator activity				0	Hepatocellular(266;0.158)					AACCAGCAGCTGGCAGATGCC	0.647												
PAQR6	79957	broad.mit.edu	37	1	156214974	156214974	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:156214974C>T	uc001fnu.1	-	6	638	c.568G>A	c.(568-570)GCC>ACC	p.A190T	PAQR6_uc010phf.1_Silent_p.S56S|PAQR6_uc001fny.1_5'UTR|PAQR6_uc001fnv.1_Missense_Mutation_p.A166T|PAQR6_uc010phg.1_Missense_Mutation_p.A187T|PAQR6_uc001fnx.1_Missense_Mutation_p.A84T|PAQR6_uc001fnw.1_Missense_Mutation_p.A84T|PAQR6_uc001fnz.1_Missense_Mutation_p.A84T|PAQR6_uc010phh.1_Missense_Mutation_p.A190T|PAQR6_uc001foa.1_Missense_Mutation_p.A84T|PAQR6_uc001fob.1_RNA	NM_198406	NP_940798	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	190	Cytoplasmic (Potential).					integral to membrane	receptor activity				0	Hepatocellular(266;0.158)					AATGGATAGGCGAAGGCTCCT	0.602												
SMG5	23381	broad.mit.edu	37	1	156237904	156237904	+	Splice_Site	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:156237904A>G	uc001foc.3	-	9	1057	c.908_splice	c.e9+1	p.S303_splice		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay						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)					TCTTCCACTCACCTGCTTTTG	0.458												
RHBG	57127	broad.mit.edu	37	1	156339144	156339144	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:156339144G>A	uc010pho.1	+	1	142	c.104G>A	c.(103-105)CGC>CAC	p.R35H	RHBG_uc010phm.1_Missense_Mutation_p.R35H|RHBG_uc010phn.1_RNA|RHBG_uc001fos.2_5'UTR|RHBG_uc009wrz.2_5'UTR|RHBG_uc001for.2_5'UTR	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Rhesus blood group, B glycoprotein	35	Extracellular (Potential).				transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			ovary(2)	2	Hepatocellular(266;0.158)					GTCTTTGTCCGCTACAACCAC	0.627												
PRCC	5546	broad.mit.edu	37	1	156756757	156756757	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:156756757C>A	uc001fqa.2	+	3	1164	c.874C>A	c.(874-876)CCT>ACT	p.P292T	PRCC_uc001fqb.2_Missense_Mutation_p.P292T	NM_005973	NP_005964	Q92733	PRCC_HUMAN	papillary renal cell carcinoma	292					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	kidney(25)|central_nervous_system(2)	27	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGAGCCATACCCTTACCCCAT	0.562			T	TFE3	papillary renal 							
FCRL3	115352	broad.mit.edu	37	1	157666085	157666085	+	Missense_Mutation	SNP	G	G	A	rs146153982		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:157666085G>A	uc001frb.2	-	7	1169	c.877C>T	c.(877-879)CGG>TGG	p.R293W	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.R293W|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Missense_Mutation_p.R19W|FCRL3_uc001frc.1_Missense_Mutation_p.R293W	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	293	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					CCGGTGGGCCGGATCTCTAGA	0.532												
ATP1A4	480	broad.mit.edu	37	1	160136351	160136351	+	Missense_Mutation	SNP	C	C	T	rs143083729	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:160136351C>T	uc001fve.3	+	8	1560	c.1081C>T	c.(1081-1083)CGG>TGG	p.R361W	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_5'UTR	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	361	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCGCATGGCGCGGAAGAACTG	0.567												
DCAF8	50717	broad.mit.edu	37	1	160188206	160188206	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:160188206G>A	uc001fvo.2	-	13	1897	c.1585C>T	c.(1585-1587)CGG>TGG	p.R529W	DCAF8_uc001fvn.2_Missense_Mutation_p.R529W|DCAF8_uc009wth.2_Missense_Mutation_p.R529W|DCAF8_uc010pjb.1_Missense_Mutation_p.R529W|DCAF8_uc010pjc.1_Missense_Mutation_p.R683W	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	529						CUL4 RING ubiquitin ligase complex	protein binding			skin(2)	2						TCTTCATCCCGCTCCCGCTTG	0.512												
POGK	57645	broad.mit.edu	37	1	166819124	166819124	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:166819124C>T	uc001gdt.1	+	5	1428	c.1308C>T	c.(1306-1308)CAC>CAT	p.H436H	POGK_uc010ple.1_Silent_p.H351H|POGK_uc010plf.1_Silent_p.H318H	NM_017542	NP_060012	Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	436	DDE.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						TTCGCTGCCACCGGTATGGGT	0.547												
ILDR2	387597	broad.mit.edu	37	1	166944501	166944501	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:166944501T>C	uc001gdx.1	-	1	61	c.5A>G	c.(4-6)GAT>GGT	p.D2G		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor	2	Extracellular (Potential).					integral to membrane				ovary(1)	1						CAAGACCCTATCCATCTTCCC	0.403												
RCSD1	92241	broad.mit.edu	37	1	167653175	167653175	+	Silent	SNP	G	G	A	rs112577989	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:167653175G>A	uc001gem.2	+	2	232	c.45G>A	c.(43-45)TCG>TCA	p.S15S	RCSD1_uc010pli.1_Silent_p.S15S	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	15										ovary(2)|central_nervous_system(2)|skin(1)	5	all_hematologic(923;0.215)					TGGACAACTCGGCGTCCCCCT	0.592												
SELL	6402	broad.mit.edu	37	1	169672458	169672458	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:169672458C>A	uc001ggk.2	-	6	1088	c.890G>T	c.(889-891)GGG>GTG	p.G297V	C1orf112_uc001ggj.2_Intron|SELL_uc010pls.1_Missense_Mutation_p.G250V|SELL_uc001ggl.1_Missense_Mutation_p.G310V	NM_000655	NP_000646	P14151	LYAM1_HUMAN	selectin L precursor	297	Extracellular (Potential).|Sushi 2.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding				0	all_hematologic(923;0.208)					TTTCTTCTTCCCAATTAACTC	0.428												
SELE	6401	broad.mit.edu	37	1	169696562	169696562	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:169696562T>C	uc001ggm.3	-	10	1730	c.1573A>G	c.(1573-1575)ACG>GCG	p.T525A	C1orf112_uc001ggj.2_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	selectin E precursor	525	Extracellular (Potential).|Sushi 6.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			ovary(3)|skin(2)	5	all_hematologic(923;0.208)					CCATTGAGCGTCCATCCTTCA	0.542												
SCYL3	57147	broad.mit.edu	37	1	169823861	169823861	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:169823861G>A	uc001ggs.2	-	13	1917	c.1719C>T	c.(1717-1719)TGC>TGT	p.C573C	SCYL3_uc010plw.1_Silent_p.C165C|SCYL3_uc001ggt.2_Silent_p.C519C|SCYL3_uc001ggu.2_RNA	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	SCY1-like 3 isoform 2	573	Interaction with EZR.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			ovary(1)|skin(1)	2	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGCTGGGCTCGCAGTCATCCC	0.468												
SLC9A11	284525	broad.mit.edu	37	1	173494047	173494047	+	Silent	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:173494047A>G	uc001giz.2	-	20	2808	c.2385T>C	c.(2383-2385)GGT>GGC	p.G795G	SLC9A11_uc009wwe.2_Silent_p.G353G|SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	795					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						CAACATCACGACCCTCATGCT	0.313												
GPR52	9293	broad.mit.edu	37	1	174418193	174418193	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:174418193T>C	uc001gka.1	+	1	982	c.944T>C	c.(943-945)GTA>GCA	p.V315A	RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron|uc010pmu.1_RNA	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	315	Helical; Name=7; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1						TGTAACTGTGTAATATACAGC	0.433												
TNN	63923	broad.mit.edu	37	1	175066629	175066629	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:175066629G>T	uc001gkl.1	+	8	1778	c.1665G>T	c.(1663-1665)CAG>CAT	p.Q555H	TNN_uc010pmx.1_Intron	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	555	Fibronectin type-III 4.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACCCGGTACAGGCCACCATTG	0.547												
RASAL2	9462	broad.mit.edu	37	1	178414799	178414799	+	Splice_Site	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:178414799T>C	uc001glr.2	+	7	1308	c.1183_splice	c.e7+2	p.G395_splice	RASAL2_uc001glq.2_Splice_Site_p.G543_splice	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 1						negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5						ACGCACTGGGTATGAAAGAGA	0.373												
CACNA1E	777	broad.mit.edu	37	1	181453006	181453006	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:181453006G>A	uc001gow.2	+	1	291	c.126G>A	c.(124-126)ACG>ACA	p.T42T		NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	42	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						ACAAGCAGACGAAAGCACAGA	0.622												
PRG4	10216	broad.mit.edu	37	1	186282863	186282863	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:186282863A>G	uc001gru.3	+	13	4219	c.4168A>G	c.(4168-4170)ACT>GCT	p.T1390A	PRG4_uc001grt.3_Missense_Mutation_p.T1349A|PRG4_uc009wyl.2_Missense_Mutation_p.T1297A|PRG4_uc009wym.2_Missense_Mutation_p.T1256A|PRG4_uc010poo.1_RNA|TPR_uc001grv.2_3'UTR	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	1390					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						AGCAATTACTACTCGTTCTGG	0.343												
CDC73	79577	broad.mit.edu	37	1	193099372	193099372	+	Silent	SNP	G	G	A	rs141131532		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:193099372G>A	uc001gtb.2	+	3	549	c.306G>A	c.(304-306)GCG>GCA	p.A102A		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	parafibromin	102					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			parathyroid(46)|ovary(1)|breast(1)|pancreas(1)	49						ATGGTGAAGCGTGTGAGTACT	0.219									Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome			
CFHR5	81494	broad.mit.edu	37	1	196977710	196977710	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:196977710C>T	uc001gts.3	+	10	1735	c.1607C>T	c.(1606-1608)GCT>GTT	p.A536V		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	536	Sushi 9.				complement activation, alternative pathway	extracellular region				breast(1)|skin(1)	2						ACAGGGGATGCTGTTGAATTC	0.363												
CRB1	23418	broad.mit.edu	37	1	197411413	197411413	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:197411413C>T	uc001gtz.2	+	11	4131	c.3996C>T	c.(3994-3996)TGC>TGT	p.C1332C	CRB1_uc010poz.1_Silent_p.C1308C|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.C1220C|CRB1_uc010ppb.1_Silent_p.C796C|CRB1_uc010ppd.1_Silent_p.C813C|CRB1_uc001gub.1_3'UTR	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	1332	Extracellular (Potential).|EGF-like 19; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						GCGAGCGCTGCGAGGTGGACG	0.483												
DENND1B	163486	broad.mit.edu	37	1	197621403	197621403	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:197621403G>T	uc001guf.3	-	7	747	c.409C>A	c.(409-411)CCA>ACA	p.P137T	DENND1B_uc010ppe.1_Missense_Mutation_p.P137T|DENND1B_uc010ppf.1_RNA|DENND1B_uc001gue.3_Missense_Mutation_p.P127T|DENND1B_uc001gug.3_5'UTR	NM_144977	NP_659414	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B isoform 2	137	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity				0						TTTGGTACTGGGTGGTTATAC	0.333												
ZNF281	23528	broad.mit.edu	37	1	200376244	200376244	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:200376244A>G	uc001gve.2	-	2	2697	c.2590T>C	c.(2590-2592)TCA>CCA	p.S864P	ZNF281_uc001gvf.1_Missense_Mutation_p.S864P|ZNF281_uc001gvg.1_Missense_Mutation_p.S828P	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	864					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)	2						TCTGACACTGAAGTCCTTACT	0.443												
IGFN1	91156	broad.mit.edu	37	1	201184182	201184182	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:201184182C>T	uc001gwc.2	+	3	1147	c.375C>T	c.(373-375)CTC>CTT	p.L125L	IGFN1_uc001gwb.2_RNA	NM_178275	NP_840059			RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;											ovary(2)|pancreas(1)	3						AAGACGGTCTCGTGCACAGCC	0.602												
PKP1	5317	broad.mit.edu	37	1	201292264	201292264	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:201292264A>G	uc001gwd.2	+	10	1941	c.1690A>G	c.(1690-1692)ACC>GCC	p.T564A	PKP1_uc001gwe.2_Missense_Mutation_p.T543A|PKP1_uc009wzm.2_Missense_Mutation_p.T151A	NM_000299	NP_000290	Q13835	PKP1_HUMAN	plakophilin 1 isoform 1b	564	ARM 7.				cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			ovary(2)	2						GAAAGATGCTACCCTGGAGGC	0.597												
LMOD1	25802	broad.mit.edu	37	1	201868874	201868874	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:201868874G>T	uc001gxb.2	-	2	1515	c.1267C>A	c.(1267-1269)CAC>AAC	p.H423N	LMOD1_uc010ppu.1_Missense_Mutation_p.H372N	NM_012134	NP_036266	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	423					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			ovary(1)|pancreas(1)|skin(1)	3						CGCTGGTTGTGGAAGCGGAGC	0.572												
ATP2B4	493	broad.mit.edu	37	1	203672793	203672793	+	Silent	SNP	C	C	T	rs145839216	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:203672793C>T	uc001gzw.2	+	8	1835	c.951C>T	c.(949-951)GAC>GAT	p.D317D	ATP2B4_uc001gzv.2_Silent_p.D317D|ATP2B4_uc009xaq.2_Silent_p.D317D	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	317	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGACCCAAGACGGAGTGGCCC	0.522												
PIK3C2B	5287	broad.mit.edu	37	1	204438765	204438765	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:204438765A>G	uc001haw.2	-	3	645	c.166T>C	c.(166-168)TCT>CCT	p.S56P	PIK3C2B_uc010pqv.1_Missense_Mutation_p.S56P|PIK3C2B_uc001hax.1_Missense_Mutation_p.S56P|PIK3C2B_uc009xbd.1_RNA	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	56	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CTGATGAGAGAGGGGTCTGCG	0.592												
LRRN2	10446	broad.mit.edu	37	1	204588874	204588874	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:204588874G>A	uc001hbe.1	-	3	635	c.247C>T	c.(247-249)CGT>TGT	p.R83C	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.R83C|LRRN2_uc009xbf.1_Missense_Mutation_p.R83C|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	83	LRR 1.|Extracellular (Potential).				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TGGTCCACACGGACAATGCTG	0.597												
NFASC	23114	broad.mit.edu	37	1	204951139	204951139	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:204951139G>A	uc001hbj.2	+	21	2789	c.2461G>A	c.(2461-2463)GGA>AGA	p.G821R	NFASC_uc010pra.1_Missense_Mutation_p.G817R|NFASC_uc001hbi.2_Missense_Mutation_p.G817R|NFASC_uc010prb.1_Missense_Mutation_p.G832R|NFASC_uc010prc.1_Missense_Mutation_p.G388R|NFASC_uc001hbk.1_Missense_Mutation_p.G627R|NFASC_uc001hbl.1_Missense_Mutation_p.G71R	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	821	Extracellular (Potential).				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CGGTTACTCCGGAGAAGATTG	0.612												
TMCC2	9911	broad.mit.edu	37	1	205210873	205210873	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:205210873C>T	uc001hbz.1	+	3	892	c.448C>T	c.(448-450)CGC>TGC	p.R150C	TMCC2_uc010prf.1_Missense_Mutation_p.R72C	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	150						integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CGCCTTCAACCGCGTGCTGCA	0.532												
TMCC2	9911	broad.mit.edu	37	1	205211130	205211130	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:205211130C>T	uc001hbz.1	+	3	1149	c.705C>T	c.(703-705)AAC>AAT	p.N235N	TMCC2_uc010prf.1_Silent_p.N157N	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	235				TALLLADGSNVYLLAEEAEGIGDK -> MNQVVQPLMSRHS ACRGSQAHLSW (in Ref. 6).		integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACGGCAGCAACGTGTACCTCC	0.677												
IL10	3586	broad.mit.edu	37	1	206943240	206943240	+	Splice_Site	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:206943240C>T	uc001hen.1	-	4	438	c.379_splice	c.e4-1	p.H127_splice		NM_000572	NP_000563	P22301	IL10_HUMAN	interleukin 10 precursor						anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding				0	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GAAATCGATGCTGTGGAAGAA	0.498												
CR1	1378	broad.mit.edu	37	1	207739262	207739262	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:207739262T>C	uc001hfy.2	+	16	2736	c.2596T>C	c.(2596-2598)TGT>CGT	p.C866R	CR1_uc009xcl.1_Intron|CR1_uc001hfx.2_Missense_Mutation_p.C1316R|CR1_uc009xck.1_Intron	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	866	Extracellular (Potential).|Sushi 13.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						TGTTCCAGTGTGTGAACGTGA	0.413												
PTPN14	5784	broad.mit.edu	37	1	214557889	214557889	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:214557889G>A	uc001hkk.1	-	13	1580	c.1309C>T	c.(1309-1311)CCC>TCC	p.P437S	PTPN14_uc010pty.1_Missense_Mutation_p.P338S	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	437					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CTGTACGAGGGCACGATGATC	0.587												
USH2A	7399	broad.mit.edu	37	1	216073455	216073455	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:216073455G>A	uc001hku.1	-	40	7943	c.7556C>T	c.(7555-7557)GCA>GTA	p.A2519V		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2519	Extracellular (Potential).|Fibronectin type-III 11.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGAACTATGTGCACTGCCAAA	0.428										HNSCC(13;0.011)		
USH2A	7399	broad.mit.edu	37	1	216258044	216258044	+	Silent	SNP	T	T	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:216258044T>G	uc001hku.1	-	25	5550	c.5163A>C	c.(5161-5163)GGA>GGC	p.G1721G		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1721	Laminin G-like 2.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CATTACCTGCTCCTAGGAACT	0.398										HNSCC(13;0.011)		
TP53BP2	7159	broad.mit.edu	37	1	223976852	223976852	+	Silent	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:223976852T>C	uc010pvb.1	-	16	3313	c.3021A>G	c.(3019-3021)TCA>TCG	p.S1007S	TP53BP2_uc001hod.2_Silent_p.S878S|TP53BP2_uc010puz.1_Silent_p.S240S|TP53BP2_uc010pva.1_Silent_p.S646S	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	1001	ANK 2.|Mediates interaction with APC2.				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)		CGTTGTTACATGAGGCAGCAC	0.463												
TMEM63A	9725	broad.mit.edu	37	1	226053631	226053631	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:226053631C>A	uc001hpm.1	-	10	962	c.712G>T	c.(712-714)GAT>TAT	p.D238Y		NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	238						integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)					TTCCTGGCATCTCTGGGGAGT	0.617												
CDC42BPA	8476	broad.mit.edu	37	1	227259997	227259997	+	Silent	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:227259997T>C	uc001hqr.2	-	20	3682	c.2739A>G	c.(2737-2739)AAA>AAG	p.K913K	CDC42BPA_uc001hqq.2_Silent_p.K177K|CDC42BPA_uc001hqs.2_Silent_p.K832K|CDC42BPA_uc009xes.2_Silent_p.K913K|CDC42BPA_uc010pvs.1_Silent_p.K913K|CDC42BPA_uc001hqp.2_Silent_p.K69K|CDC42BPA_uc001hqu.1_Silent_p.K69K	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	CDC42-binding protein kinase alpha isoform B	913	Potential.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)				AATCTTTTAGTTTACTTAAAT	0.353												
OBSCN	84033	broad.mit.edu	37	1	228475489	228475489	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:228475489G>A	uc009xez.1	+	36	9683	c.9639G>A	c.(9637-9639)GCG>GCA	p.A3213A	OBSCN_uc001hsn.2_Silent_p.A3213A|OBSCN_uc001hsq.1_Silent_p.A469A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3213	Ig-like 32.				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)				CTGTGGCTGCGCCCGTGAAGT	0.637												
OBSCN	84033	broad.mit.edu	37	1	228494839	228494839	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:228494839C>T	uc009xez.1	+	45	12208	c.12164C>T	c.(12163-12165)ACG>ATG	p.T4055M	OBSCN_uc001hsn.2_Missense_Mutation_p.T4055M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4055	Ig-like 41.				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)				ACGGGCCACACGCAGAGCATG	0.632												
OBSCN	84033	broad.mit.edu	37	1	228538597	228538597	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:228538597C>T	uc009xez.1	+	77	18416	c.18372C>T	c.(18370-18372)GAC>GAT	p.D6124D	OBSCN_uc001hsn.2_Silent_p.D6124D|OBSCN_uc001hsr.1_Silent_p.D753D|OBSCN_uc009xfa.2_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6124	Ig-like 53.				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)				AGGGAGAGGACGCCCAGTTCA	0.592												
GALNT2	2590	broad.mit.edu	37	1	230391063	230391063	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:230391063C>T	uc010pwa.1	+	11	1181	c.1109C>T	c.(1108-1110)CCG>CTG	p.P370L	GALNT2_uc010pvy.1_Missense_Mutation_p.P332L|GALNT2_uc010pvz.1_RNA	NM_004481	NP_004472	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	370	Lumenal (Potential).				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TACACGTTCCCGGGTGGCAGT	0.597												
PGBD5	79605	broad.mit.edu	37	1	230492718	230492718	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:230492718G>A	uc010pwb.1	-	2	474	c.474C>T	c.(472-474)CAC>CAT	p.H158H	PGBD5_uc001htv.2_Silent_p.H257H	NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	158						integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TGTAGAGCCCGTGCGTGGTCT	0.622												
TRIM67	440730	broad.mit.edu	37	1	231337127	231337127	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:231337127C>T	uc009xfn.1	+	5	1440	c.1398C>T	c.(1396-1398)CGC>CGT	p.R466R		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	tripartite motif-containing 67	466	COS.					cytoplasm|cytoskeleton	zinc ion binding			ovary(2)|breast(1)|kidney(1)	4	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TGATCAAGCGCGTCCAGGTGT	0.537												
KIAA1383	54627	broad.mit.edu	37	1	232942219	232942219	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:232942219C>T	uc001hvh.2	+	1	1582	c.1450C>T	c.(1450-1452)CGT>TGT	p.R484C		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	hypothetical protein LOC54627	342										ovary(1)	1		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				TGAAAAAAAGCGTGTAAATCC	0.453												
C1orf57	84284	broad.mit.edu	37	1	233091397	233091397	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:233091397G>A	uc001hvj.1	+	2	216	c.129G>A	c.(127-129)CAG>CAA	p.Q43Q	C1orf57_uc001hvi.2_Silent_p.Q43Q|C1orf57_uc009xft.1_Intron	NM_032324	NP_115700	Q9BSD7	NTPCR_HUMAN	nucleoside-triphosphatase C1orf57	43							ATP binding|nucleoside-triphosphatase activity|nucleotide phosphatase activity|transferase activity				0		all_cancers(173;0.0818)|Prostate(94;0.137)				AAGTCAGACAGGGAGGGAGAA	0.438												
KIAA1804	84451	broad.mit.edu	37	1	233518334	233518334	+	Silent	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:233518334G>T	uc001hvt.3	+	10	3249	c.2988G>T	c.(2986-2988)GTG>GTT	p.V996V	KIAA1804_uc001hvu.3_Silent_p.V442V	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	mixed lineage kinase 4	996					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			lung(5)|central_nervous_system(2)|skin(1)	8		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				AATCCCATGTGCCTTCATTAC	0.542												
LYST	1130	broad.mit.edu	37	1	235973208	235973208	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:235973208C>T	uc001hxj.2	-	5	1085	c.910G>A	c.(910-912)GAC>AAC	p.D304N	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.D304N	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	304					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)			TCCAAGTTGTCGCTCAGACTG	0.478									Chediak-Higashi_syndrome			
HEATR1	55127	broad.mit.edu	37	1	236740202	236740202	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:236740202G>A	uc001hyd.1	-	21	2928	c.2803C>T	c.(2803-2805)CGT>TGT	p.R935C	HEATR1_uc009xgh.1_Missense_Mutation_p.R178C	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	935					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GCAGCCCTACGAACTTCTTTT	0.388												
ACTN2	88	broad.mit.edu	37	1	236899013	236899013	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:236899013C>T	uc001hyf.2	+	8	980	c.776C>T	c.(775-777)GCG>GTG	p.A259V	ACTN2_uc001hyg.2_Missense_Mutation_p.A14V|ACTN2_uc009xgi.1_Intron|ACTN2_uc010pxu.1_Intron	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	259					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TTTGCGGGCGCGGAGCAGGTA	0.498												
ACTN2	88	broad.mit.edu	37	1	236902618	236902618	+	Missense_Mutation	SNP	G	G	A	rs142482143	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:236902618G>A	uc001hyf.2	+	10	1097	c.893G>A	c.(892-894)CGT>CAT	p.R298H	ACTN2_uc001hyg.2_Missense_Mutation_p.R90H|ACTN2_uc009xgi.1_Missense_Mutation_p.R298H|ACTN2_uc010pxu.1_Intron|ACTN2_uc001hyh.2_5'UTR	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	298	Spectrin 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAATGGATTCGTCGCACGATC	0.517												
OPN3	23596	broad.mit.edu	37	1	241803320	241803320	+	Silent	SNP	G	G	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:241803320G>C	uc001hza.2	-	1	382	c.237C>G	c.(235-237)CTC>CTG	p.L79L	OPN3_uc001hzb.2_RNA|OPN3_uc001hzc.2_RNA	NM_014322	NP_055137	Q9H1Y3	OPN3_HUMAN	opsin 3	79	Helical; Name=2; (Potential).				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity				0	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TGTTGACCAGGAGGAGGTGAG	0.627												
OR2M5	127059	broad.mit.edu	37	1	248309326	248309326	+	Missense_Mutation	SNP	C	C	T	rs150445512	by1000genomes	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:248309326C>T	uc010pze.1	+	1	877	c.877C>T	c.(877-879)CGC>TGC	p.R293C		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	293	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CTACAGCCTCCGCAACAAGGA	0.493												
SH3BP5L	80851	broad.mit.edu	37	1	249106454	249106454	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:249106454C>T	uc001iew.1	-	7	1379	c.827G>A	c.(826-828)CGC>CAC	p.R276H	SH3BP5L_uc010pzp.1_Missense_Mutation_p.R169H|SH3BP5L_uc010pzq.1_Missense_Mutation_p.R244H|SH3BP5L_uc001iev.1_Missense_Mutation_p.R157H	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	276											0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CAGACCCCCGCGGCGCCGTGC	0.687												
DIP2C	22982	broad.mit.edu	37	10	429975	429975	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:429975G>A	uc001ifp.2	-	16	1958	c.1868C>T	c.(1867-1869)GCG>GTG	p.A623V	DIP2C_uc009xhj.1_Missense_Mutation_p.A319V	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	623						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ACAGGGGTTCGCGCCGTCCGC	0.507												
WDR37	22884	broad.mit.edu	37	10	1149661	1149661	+	Silent	SNP	C	C	T	rs12571177		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:1149661C>T	uc001igf.1	+	10	1019	c.846C>T	c.(844-846)GGC>GGT	p.G282G	WDR37_uc009xhm.1_Silent_p.G283G|WDR37_uc009xhn.1_RNA|WDR37_uc001igg.1_RNA	NM_014023	NP_054742	Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	282	WD 3.										0		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		GCCACCAGGGCGTGGTCATCG	0.647												
UCMA	221044	broad.mit.edu	37	10	13276241	13276241	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:13276241G>A	uc001imd.2	-	1	91	c.18C>T	c.(16-18)GCC>GCT	p.A6A		NM_145314	NP_660357	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix	6						proteinaceous extracellular matrix					0						ACAGCAGGACGGCCTGTCTCC	0.582												
SEPHS1	22929	broad.mit.edu	37	10	13370368	13370368	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:13370368G>A	uc001imk.2	-	7	1093	c.734C>T	c.(733-735)GCG>GTG	p.A245V	SEPHS1_uc001imh.2_Missense_Mutation_p.A169V|SEPHS1_uc010qbs.1_Missense_Mutation_p.A197V|SEPHS1_uc001imi.2_Missense_Mutation_p.A245V|SEPHS1_uc001imj.2_Missense_Mutation_p.A245V|SEPHS1_uc010qbt.1_Missense_Mutation_p.A178V	NM_012247	NP_036379	P49903	SPS1_HUMAN	selenophosphate synthetase 1	245					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			skin(1)	1						GTTGAGCCTCGCCATGTTCAT	0.368												
FAM107B	83641	broad.mit.edu	37	10	14816291	14816291	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:14816291G>A	uc001ina.1	-	1	606	c.372C>T	c.(370-372)CAC>CAT	p.H124H	FAM107B_uc010qbu.1_RNA	NM_031453	NP_113641	Q9H098	F107B_HUMAN	hypothetical protein LOC83641	Error:Variant_position_missing_in_Q9H098_after_alignment										breast(4)	4						GGATGGAAGCGTGAAACACCA	0.582												
CUBN	8029	broad.mit.edu	37	10	17146512	17146512	+	Silent	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:17146512A>G	uc001ioo.2	-	12	1375	c.1323T>C	c.(1321-1323)TGT>TGC	p.C441C		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	441	EGF-like 7; calcium-binding (Potential).				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCCATTCAAACAGGGGTTGC	0.463												
VIM	7431	broad.mit.edu	37	10	17275857	17275857	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:17275857G>A	uc001iou.2	+	5	1222	c.809G>A	c.(808-810)CGT>CAT	p.R270H	VIM_uc001iov.1_Missense_Mutation_p.R270H|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.R270H|VIM_uc001ioy.1_Missense_Mutation_p.R270H|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.R270H|VIM_uc001ipc.1_Missense_Mutation_p.R270H	NM_003380	NP_003371	P08670	VIME_HUMAN	vimentin	270	Rod.|Coil 2.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GCTGCCCTGCGTGACGTACGT	0.498												
NEBL	10529	broad.mit.edu	37	10	21106597	21106597	+	Missense_Mutation	SNP	G	G	A	rs114875104	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:21106597G>A	uc001iqi.2	-	21	2477	c.2080C>T	c.(2080-2082)CGG>TGG	p.R694W	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	694	Nebulin 20.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						GCAGTTCCCCGTTGAAGTTCT	0.383												
NEBL	10529	broad.mit.edu	37	10	21108359	21108359	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:21108359C>T	uc001iqi.2	-	20	2446	c.2049G>A	c.(2047-2049)CTG>CTA	p.L683L	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	683	Nebulin 19.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						TTGCCGCACTCAGCTGCTCCT	0.373												
ACBD5	91452	broad.mit.edu	37	10	27499857	27499857	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:27499857C>A	uc010qdp.1	-	9	1281	c.1090G>T	c.(1090-1092)GGA>TGA	p.G364*	ACBD5_uc010qdm.1_Nonsense_Mutation_p.G362*|ACBD5_uc010qdn.1_Nonsense_Mutation_p.G255*|ACBD5_uc010qdo.1_Nonsense_Mutation_p.G187*|ACBD5_uc001ito.2_Nonsense_Mutation_p.G329*|ACBD5_uc001itp.2_Nonsense_Mutation_p.G255*|ACBD5_uc001itq.2_Nonsense_Mutation_p.G255*|ACBD5_uc001itr.1_Nonsense_Mutation_p.G153*	NM_145698	NP_663736	Q5T8D3	ACBD5_HUMAN	acyl-Coenzyme A binding domain containing 5	373					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding				0						TCACCTTTTCCTTCAACTGCA	0.468												
MPP7	143098	broad.mit.edu	37	10	28378678	28378678	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:28378678C>T	uc001iua.1	-	14	1449	c.1045G>A	c.(1045-1047)GCT>ACT	p.A349T	MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Missense_Mutation_p.A349T|MPP7_uc009xla.2_Missense_Mutation_p.A349T|MPP7_uc010qdv.1_RNA	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	palmitoylated membrane protein 7	349					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			ovary(1)	1						GGTACGTCAGCTGTGTCGTAC	0.383												
ZNF438	220929	broad.mit.edu	37	10	31134324	31134324	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:31134324C>A	uc010qdz.1	-	8	2488	c.2053G>T	c.(2053-2055)GGA>TGA	p.G685*	ZNF438_uc001ivn.2_Nonsense_Mutation_p.G636*|ZNF438_uc010qdy.1_Nonsense_Mutation_p.G675*|ZNF438_uc001ivo.3_Nonsense_Mutation_p.G249*|ZNF438_uc009xlg.2_Nonsense_Mutation_p.G685*|ZNF438_uc001ivp.3_Nonsense_Mutation_p.G675*|ZNF438_uc010qea.1_Nonsense_Mutation_p.G685*|ZNF438_uc010qeb.1_Nonsense_Mutation_p.G685*	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438 isoform a	685					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2		Prostate(175;0.0587)				CCCTTGCTTCCTGGGAAGGTC	0.498												
C10orf68	79741	broad.mit.edu	37	10	33000652	33000652	+	Missense_Mutation	SNP	C	C	T	rs34466233		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:33000652C>T	uc001iwn.3	+	7	957	c.484C>T	c.(484-486)CGT>TGT	p.R162C	C10orf68_uc001iwl.1_Missense_Mutation_p.R170C|C10orf68_uc001iwm.1_Missense_Mutation_p.R138C|C10orf68_uc010qei.1_Missense_Mutation_p.R89C	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	162										skin(2)|ovary(1)	3						AGGAGAAGGACGTAGCAGTAA	0.299												
FZD8	8325	broad.mit.edu	37	10	35928685	35928685	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:35928685C>T	uc001iyz.1	-	1	1678	c.1673G>A	c.(1672-1674)CGC>CAC	p.R558H		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	frizzled 8 precursor	558	Extracellular (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding				0						CCAGCGCGGGCGGTTGTGCTG	0.667												
PPYR1	5540	broad.mit.edu	37	10	47087154	47087154	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:47087154C>T	uc001jee.2	+	3	790	c.371C>T	c.(370-372)TCG>TTG	p.S124L	ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Missense_Mutation_p.S124L	NM_005972	NP_005963	P50391	NPY4R_HUMAN	pancreatic polypeptide receptor 1	124	Helical; Name=3; (Potential).				blood circulation|digestion|feeding behavior	integral to plasma membrane				ovary(1)|skin(1)	2						CAGTGCATGTCGGTGACGGTC	0.592												
GDF10	2662	broad.mit.edu	37	10	48429172	48429172	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:48429172G>A	uc001jfb.2	-	2	1170	c.714C>T	c.(712-714)AGC>AGT	p.S238S	GDF10_uc009xnp.2_Silent_p.S237S|GDF10_uc009xnq.1_Silent_p.S238S	NM_004962	NP_004953	P55107	BMP3B_HUMAN	growth differentiation factor 10 precursor	238					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			lung(1)|central_nervous_system(1)	2						GCGCATAGGGGCTGGGCCGGG	0.667												
SLC18A3	6572	broad.mit.edu	37	10	50819158	50819158	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:50819158C>T	uc001jhw.2	+	1	812	c.372C>T	c.(370-372)ATC>ATT	p.I124I	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	124	Lumenal, vesicle (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						ACGTGAAGATCGGGGTGCTGT	0.652												
PCDH15	65217	broad.mit.edu	37	10	55973753	55973754	+	Missense_Mutation	DNP	AA	AA	GC			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:55973753_55973754AA>GC	uc001jju.1	-	10	1435_1436	c.1040_1041TT>GC	c.(1039-1041)CTT>CGC	p.L347R	PCDH15_uc010qhq.1_Missense_Mutation_p.L352R|PCDH15_uc010qhr.1_Missense_Mutation_p.L347R|PCDH15_uc010qhs.1_Missense_Mutation_p.L352R|PCDH15_uc010qht.1_Missense_Mutation_p.L347R|PCDH15_uc010qhu.1_Missense_Mutation_p.L347R|PCDH15_uc001jjv.1_Missense_Mutation_p.L325R|PCDH15_uc010qhv.1_Missense_Mutation_p.L347R|PCDH15_uc010qhw.1_Missense_Mutation_p.L310R|PCDH15_uc010qhx.1_Missense_Mutation_p.L347R|PCDH15_uc010qhy.1_Missense_Mutation_p.L352R|PCDH15_uc010qhz.1_Missense_Mutation_p.L347R|PCDH15_uc010qia.1_Missense_Mutation_p.L325R|PCDH15_uc010qib.1_Missense_Mutation_p.L325R|PCDH15_uc001jjw.2_Missense_Mutation_p.L347R	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	347	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)				CCAGGAGACTAAGTTCTGCTGT	0.366										HNSCC(58;0.16)		
PCDH15	65217	broad.mit.edu	37	10	56077174	56077174	+	Nonsense_Mutation	SNP	G	G	A	rs111033260	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:56077174G>A	uc001jju.1	-	8	1128	c.733C>T	c.(733-735)CGA>TGA	p.R245*	PCDH15_uc010qhq.1_Nonsense_Mutation_p.R250*|PCDH15_uc010qhr.1_Nonsense_Mutation_p.R245*|PCDH15_uc010qhs.1_Nonsense_Mutation_p.R250*|PCDH15_uc010qht.1_Nonsense_Mutation_p.R245*|PCDH15_uc010qhu.1_Nonsense_Mutation_p.R245*|PCDH15_uc001jjv.1_Nonsense_Mutation_p.R223*|PCDH15_uc010qhv.1_Nonsense_Mutation_p.R245*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.R208*|PCDH15_uc010qhx.1_Nonsense_Mutation_p.R245*|PCDH15_uc010qhy.1_Nonsense_Mutation_p.R250*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.R245*|PCDH15_uc010qia.1_Nonsense_Mutation_p.R223*|PCDH15_uc010qib.1_Nonsense_Mutation_p.R223*|PCDH15_uc001jjw.2_Nonsense_Mutation_p.R245*	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	245	Extracellular (Potential).|Cadherin 2.				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)				GTGGTGGTTCGCCTCTCATTC	0.413										HNSCC(58;0.16)		
BICC1	80114	broad.mit.edu	37	10	60273020	60273020	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:60273020G>A	uc001jki.1	+	1	117	c.117G>A	c.(115-117)GCG>GCA	p.A39A		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	39					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						TCGCCGGGGCGACCCTGCACA	0.677												
HKDC1	80201	broad.mit.edu	37	10	71007271	71007271	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:71007271G>A	uc001jpf.3	+	9	1320	c.1187G>A	c.(1186-1188)CGC>CAC	p.R396H	HKDC1_uc010qje.1_Missense_Mutation_p.R259H	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	396					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			ovary(4)|skin(1)	5						ATCCTGACACGCCTCCGGGAG	0.612												
TACR2	6865	broad.mit.edu	37	10	71175863	71175863	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:71175863C>T	uc001jpn.2	-	1	812	c.217G>A	c.(217-219)GTC>ATC	p.V73I		NM_001057	NP_001048	P21452	NK2R_HUMAN	tachykinin receptor 2	73	Helical; Name=2; (Potential).				excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			prostate(1)	1					Clonidine(DB00575)|Octreotide(DB00104)	GCCAGATTGACGATGAAGTAG	0.572												
COL13A1	1305	broad.mit.edu	37	10	71562436	71562436	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:71562436C>T	uc001jpr.1	+	1	793	c.257C>T	c.(256-258)ACG>ATG	p.T86M	COL13A1_uc001jqj.1_Missense_Mutation_p.T86M|COL13A1_uc001jps.1_Missense_Mutation_p.T86M|COL13A1_uc001jpt.1_Missense_Mutation_p.T86M|COL13A1_uc001jpu.1_Missense_Mutation_p.T86M|COL13A1_uc001jpv.1_Missense_Mutation_p.T86M|COL13A1_uc001jpx.1_Missense_Mutation_p.T86M|COL13A1_uc001jpw.1_Missense_Mutation_p.T86M|COL13A1_uc001jpy.1_Missense_Mutation_p.T86M|COL13A1_uc001jpz.1_Missense_Mutation_p.T86M|COL13A1_uc001jqa.1_Missense_Mutation_p.T86M|COL13A1_uc001jqc.1_Missense_Mutation_p.T86M|COL13A1_uc001jqb.1_Missense_Mutation_p.T86M|COL13A1_uc001jql.2_Missense_Mutation_p.T86M|COL13A1_uc001jqd.1_Missense_Mutation_p.T86M|COL13A1_uc001jqe.1_Missense_Mutation_p.T86M|COL13A1_uc001jqf.1_Missense_Mutation_p.T86M|COL13A1_uc001jqg.1_Missense_Mutation_p.T86M|COL13A1_uc001jqh.1_Missense_Mutation_p.T86M|COL13A1_uc001jqi.1_Missense_Mutation_p.T86M	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN	alpha 1 type XIII collagen isoform 1	86	Extracellular (Potential).|Nonhelical region 1 (NC1).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			ovary(1)	1					Atorvastatin(DB01076)|Simvastatin(DB00641)	CAAATGGAGACGGCTATTTTG	0.652												
KIAA1274	27143	broad.mit.edu	37	10	72285747	72285747	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:72285747G>A	uc001jrd.3	+	2	321	c.40G>A	c.(40-42)GCA>ACA	p.A14T		NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	14										ovary(2)|central_nervous_system(1)	3						GACGGTCTCGGCAGGCACCCC	0.597												
PRF1	5551	broad.mit.edu	37	10	72358862	72358862	+	Silent	SNP	G	G	A	rs141130900	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:72358862G>A	uc009xqg.2	-	3	776	c.615C>T	c.(613-615)AAC>AAT	p.N205N	PRF1_uc001jrf.3_Silent_p.N205N	NM_001083116	NP_001076585	P14222	PERF_HUMAN	perforin 1 precursor	205	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						GGGTGGAGGCGTTGAAGTGGT	0.632			M			various leukaemia|lymphoma	Type 2 familial hemophagocytic lymphohistiocytosis		Familial_Hemophagocytic_Lymphohistiocytosis			
PSAP	5660	broad.mit.edu	37	10	73578385	73578385	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:73578385C>T	uc001jsm.2	-	13	1632	c.1528G>A	c.(1528-1530)GCC>ACC	p.A510T	PSAP_uc001jsl.2_Missense_Mutation_p.A234T	NM_002778	NP_002769	P07602	SAP_HUMAN	prosaposin isoform a preproprotein	510	Saposin A-type 2.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			ovary(1)	1						TTGCACTGGGCTGCTGTCTCT	0.493												
DNAJB12	54788	broad.mit.edu	37	10	74095662	74095662	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:74095662T>C	uc010qjv.1	-	8	1286	c.1136A>G	c.(1135-1137)TAC>TGC	p.Y379C	DNAJB12_uc001jsz.2_Missense_Mutation_p.Y379C|DNAJB12_uc001jta.2_Missense_Mutation_p.Y379C	NM_017626	NP_060096	Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	345					protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding				0						GTCGCCAAAGTAGCGTGCCCG	0.597												
PPP3CB	5532	broad.mit.edu	37	10	75198132	75198132	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:75198132C>A	uc001jue.2	-	14	1578	c.1443G>T	c.(1441-1443)GAG>GAT	p.E481D	PPP3CB_uc001juf.2_Missense_Mutation_p.E482D|PPP3CB_uc001jug.2_Missense_Mutation_p.E472D|PPP3CB_uc010qkj.1_Missense_Mutation_p.E109D	NM_021132	NP_066955	P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta	481	Inhibitory domain.									skin(1)	1	Prostate(51;0.0119)					AACCCTTTGCCTCTTCAAAAC	0.393												
KCNMA1	3778	broad.mit.edu	37	10	78647231	78647231	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:78647231C>T	uc001jxn.2	-	28	3681	c.3504G>A	c.(3502-3504)CCG>CCA	p.P1168P	KCNMA1_uc001jxj.2_Silent_p.P1114P|KCNMA1_uc001jxk.1_Silent_p.P786P|KCNMA1_uc009xrt.1_Silent_p.P959P|KCNMA1_uc001jxl.1_Silent_p.P793P|KCNMA1_uc001jxo.2_Silent_p.P1151P|KCNMA1_uc001jxm.2_Silent_p.P1110P|KCNMA1_uc001jxq.2_Silent_p.P1140P|uc001jxp.2_5'Flank	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	1168	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)	TCAGGTCCGTCGGCACGAGCT	0.542												
KCNMA1	3778	broad.mit.edu	37	10	78872132	78872132	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:78872132A>G	uc001jxn.2	-	7	1130	c.953T>C	c.(952-954)ATC>ACC	p.I318T	KCNMA1_uc001jxj.2_Missense_Mutation_p.I318T|KCNMA1_uc001jxk.1_5'UTR|KCNMA1_uc009xrt.1_Missense_Mutation_p.I138T|KCNMA1_uc001jxl.1_5'Flank|KCNMA1_uc001jxo.2_Missense_Mutation_p.I318T|KCNMA1_uc001jxm.2_Missense_Mutation_p.I318T|KCNMA1_uc001jxq.2_Missense_Mutation_p.I318T	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	318	Helical; Name=Segment S5; (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)	CACCAAATGGATGAACCCGGC	0.453											OREG0020286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
POLR3A	11128	broad.mit.edu	37	10	79744971	79744971	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:79744971C>T	uc001jzn.2	-	24	3293	c.3199G>A	c.(3199-3201)GTG>ATG	p.V1067M		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	1067					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			ATCCGGGGCACGCCCAGGGTG	0.542												
EIF5AL1	143244	broad.mit.edu	37	10	81272647	81272647	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:81272647T>C	uc009xrx.2	+	1	291	c.242T>C	c.(241-243)GTC>GCC	p.V81A	uc010qls.1_5'Flank	NM_001099692	NP_001093162	Q6IS14	IF5AL_HUMAN	eukaryotic translation initiation factor 5A-like	81					mRNA transport|peptidyl-lysine modification to hypusine|positive regulation of translational elongation|positive regulation of translational termination|protein transport|translational frameshifting|transmembrane transport	endoplasmic reticulum membrane|nuclear pore	ribosome binding|translation elongation factor activity				0	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AATATGGATGTCCCCAACATC	0.502												
MAT1A	4143	broad.mit.edu	37	10	82036321	82036321	+	Silent	SNP	G	G	A	rs142189986		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:82036321G>A	uc001kbw.2	-	6	834	c.579C>T	c.(577-579)GGC>GGT	p.G193G		NM_000429	NP_000420	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	193					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GGATGACTGCGCCATTGTCCT	0.577												
NRG3	10718	broad.mit.edu	37	10	83635584	83635584	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:83635584G>T	uc001kco.2	+	1	515	c.488G>T	c.(487-489)CGG>CTG	p.R163L	NRG3_uc010qlz.1_Missense_Mutation_p.R163L|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	163	Ser/Thr-rich.|Extracellular (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		ACCATCACGCGGGCGCCCACT	0.597												
CDHR1	92211	broad.mit.edu	37	10	85972965	85972965	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:85972965C>T	uc001kcv.2	+	16	1901	c.1901C>T	c.(1900-1902)TCC>TTC	p.S634F	CDHR1_uc001kcw.2_Missense_Mutation_p.S634F|CDHR1_uc009xst.2_Missense_Mutation_p.S338F|CDHR1_uc001kcx.2_5'UTR	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	634	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						CTCAAGAATTCCATCCGCTCC	0.587												
PTEN	5728	broad.mit.edu	37	10	89653808	89653808	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:89653808G>T	uc001kfb.2	+	3	1137	c.106G>T	c.(106-108)GGA>TGA	p.G36*		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	36	Phosphatase tensin-type.		G -> R (in endometrial hyperplasia).|G -> E (in glioma).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.?(4)|p.G36E(4)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G36V(2)|p.G36*(1)|p.A34_G36del(1)|p.G36R(1)|p.G36fs*18(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TATTGCTATGGGATTTCCTGC	0.284		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
PTEN	5728	broad.mit.edu	37	10	89653842	89653842	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:89653842G>T	uc001kfb.2	+	3	1171	c.140G>T	c.(139-141)AGG>ATG	p.R47M		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	47	Phosphatase tensin-type.		R -> G (in CD).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.?(4)|p.R47G(2)|p.Y27_N212>Y(2)|p.Y27fs*1(2)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGCGTATACAGGAACAATATT	0.289		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
HTR7	3363	broad.mit.edu	37	10	92509172	92509172	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:92509172G>A	uc001kha.2	-	2	962	c.719C>T	c.(718-720)ACG>ATG	p.T240M	HTR7_uc001kgz.2_Missense_Mutation_p.T240M|HTR7_uc001khb.2_Missense_Mutation_p.T240M	NM_019859	NP_062873	P34969	5HT7R_HUMAN	5-hydroxytryptamine receptor 7 isoform d	240	Helical; Name=5; (By similarity).				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			ovary(1)	1					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	AGAGTAAATCGTATAGCCAAA	0.473												
CYP26A1	1592	broad.mit.edu	37	10	94834181	94834181	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:94834181C>T	uc001kil.2	+	2	351	c.306C>T	c.(304-306)CTC>CTT	p.L102L	CYP26A1_uc001kik.1_Silent_p.L33L|CYP26A1_uc001kim.1_Missense_Mutation_p.S7L	NM_000783	NP_000774	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A,	102					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		Colorectal(252;0.122)				GCATCTTGCTCGGAGAGCACC	0.622												
PDE6C	5146	broad.mit.edu	37	10	95381766	95381766	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:95381766G>A	uc001kiu.3	+	4	939	c.801G>A	c.(799-801)ACG>ACA	p.T267T		NM_006204	NP_006195	P51160	PDE6C_HUMAN	phosphodiesterase 6C	267	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			ovary(2)|kidney(1)|skin(1)	4		Colorectal(252;0.123)				CGCTCTACACGGTTAGATCAT	0.393												
MORN4	118812	broad.mit.edu	37	10	99377012	99377012	+	Silent	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:99377012A>G	uc001kob.3	-	3	406	c.135T>C	c.(133-135)AAT>AAC	p.N45N	PI4K2A_uc010qoy.1_Intron|MORN4_uc001koc.3_Silent_p.N103N|MORN4_uc001kod.3_3'UTR|MORN4_uc001koe.2_Silent_p.N45N|uc001kof.1_5'Flank	NM_178832	NP_849154	Q8NDC4	MORN4_HUMAN	MORN repeat containing 4	45	MORN 2.										0						TAAAGAGCCCATTCTCAAAAT	0.473												
MORN4	118812	broad.mit.edu	37	10	99379386	99379386	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:99379386T>C	uc001kob.3	-	2	296	c.25A>G	c.(25-27)ACC>GCC	p.T9A	PI4K2A_uc010qoy.1_Intron|MORN4_uc001koc.3_Intron|MORN4_uc001kod.3_Missense_Mutation_p.H99R|MORN4_uc001koe.2_Missense_Mutation_p.T9A|uc001kof.1_Intron|MORN4_uc009xvv.1_Missense_Mutation_p.H99R	NM_178832	NP_849154	Q8NDC4	MORN4_HUMAN	MORN repeat containing 4	9											0						CTGGAGTAGGTGAAGGAACCT	0.483												
GOT1	2805	broad.mit.edu	37	10	101180424	101180424	+	Missense_Mutation	SNP	C	C	T	rs146802616		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:101180424C>T	uc001kpr.2	-	2	465	c.257G>A	c.(256-258)CGT>CAT	p.R86H	GOT1_uc009xwh.2_RNA|GOT1_uc009xwi.2_Missense_Mutation_p.R86H|GOT1_uc001kpq.1_5'UTR	NM_002079	NP_002070	P17174	AATC_HUMAN	aspartate aminotransferase 1	86					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding				0		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AAGGGCAAGACGAGAAGCACA	0.463												
FBXW4	6468	broad.mit.edu	37	10	103372106	103372106	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:103372106C>T	uc001kto.2	-	7	1311	c.965G>A	c.(964-966)CGC>CAC	p.R322H		NM_022039	NP_071322	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	322	WD 3.				ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex				skin(1)	1		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		GACGCTGGTGCGGAGGTCCCA	0.622												
MGEA5	10724	broad.mit.edu	37	10	103569961	103569961	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:103569961A>T	uc001ktv.2	-	4	903	c.460T>A	c.(460-462)TTG>ATG	p.L154M	MGEA5_uc010qqe.1_Missense_Mutation_p.L154M|MGEA5_uc009xws.2_Missense_Mutation_p.L154M|MGEA5_uc001ktw.2_Missense_Mutation_p.L154M|MGEA5_uc009xwt.2_Intron|MGEA5_uc010qqf.1_RNA	NM_012215	NP_036347	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	154					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TTACGTTTCAATGTGGATACT	0.373												
C10orf76	79591	broad.mit.edu	37	10	103766310	103766310	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:103766310C>T	uc009xwy.1	-	14	1137	c.1035G>A	c.(1033-1035)CCG>CCA	p.P345P		NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	hypothetical protein LOC79591	345						integral to membrane					0		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		CAGAGGAAGGCGGTGTGGTCC	0.488												
GBF1	8729	broad.mit.edu	37	10	104122262	104122262	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:104122262A>G	uc001kux.1	+	15	1954	c.1714A>G	c.(1714-1716)ACA>GCA	p.T572A	GBF1_uc001kuy.1_Missense_Mutation_p.T572A|GBF1_uc001kuz.1_Missense_Mutation_p.T573A	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	572					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TCAACTCTATACAACACACCT	0.438												
NFKB2	4791	broad.mit.edu	37	10	104161010	104161010	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:104161010G>A	uc001kvb.2	+	19	2410	c.2145G>A	c.(2143-2145)TCG>TCA	p.S715S	NFKB2_uc001kva.2_Silent_p.S715S|NFKB2_uc001kvd.2_Silent_p.S715S|NFKB2_uc009xxc.2_Silent_p.S715S	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene	715			Missing (in truncated form p80HT).|Missing (in truncated form LB40).|Missing (in truncated form EB308).	S->A: Loss of phosphorylation; when associated with G-713 and A-717.	innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			lung(3)	3		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		ATAGCGACTCGGACTCTGAAG	0.632			T	IGH@	B-NHL							
TMEM180	79847	broad.mit.edu	37	10	104230750	104230750	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:104230750G>A	uc001kvt.2	+	5	799	c.580G>A	c.(580-582)GCT>ACT	p.A194T	TMEM180_uc001kvs.2_Intron|TMEM180_uc010qql.1_Intron|TMEM180_uc010qqm.1_Intron|TMEM180_uc001kvu.2_Missense_Mutation_p.A194T	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	transmembrane protein 180	194	Helical; (Potential).					integral to membrane				ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CTCCTTCCGCGCTTTCTGCGT	0.617												
TRIM8	81603	broad.mit.edu	37	10	104415893	104415893	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:104415893A>G	uc001kvz.2	+	4	1054	c.931A>G	c.(931-933)AGG>GGG	p.R311G		NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN	tripartite motif-containing 8	311						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCTGATGGACAGGTAAGCTGA	0.632												
PDCD11	22984	broad.mit.edu	37	10	105174079	105174079	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:105174079G>A	uc001kwy.1	+	11	1450	c.1363G>A	c.(1363-1365)GTG>ATG	p.V455M		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	455	S1 motif 5.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ACCTGGGGCAGTGGTAAAGGT	0.443												
ITPRIP	85450	broad.mit.edu	37	10	106074505	106074505	+	Silent	SNP	C	C	A	rs151096173	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:106074505C>A	uc001kye.2	-	2	1378	c.1305G>T	c.(1303-1305)ACG>ACT	p.T435T	ITPRIP_uc001kyf.2_Silent_p.T435T|ITPRIP_uc001kyg.2_Silent_p.T435T	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-triphosphate receptor interacting	435						plasma membrane					0						GCAGTAGGGCCGTCTTCAGGT	0.657												
SORCS3	22986	broad.mit.edu	37	10	107012564	107012564	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:107012564T>C	uc001kyi.1	+	23	3364	c.3137T>C	c.(3136-3138)ATT>ACT	p.I1046T	SORCS3_uc010qqz.1_RNA	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	1046	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAGATCCTCATTGCCGTGTTT	0.522												
SORCS1	114815	broad.mit.edu	37	10	108466322	108466322	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:108466322G>A	uc001kym.2	-	8	1222	c.1214C>T	c.(1213-1215)CCG>CTG	p.P405L	SORCS1_uc001kyl.2_Missense_Mutation_p.P405L|SORCS1_uc009xxs.2_Missense_Mutation_p.P405L|SORCS1_uc001kyn.1_Missense_Mutation_p.P405L|SORCS1_uc001kyo.2_Missense_Mutation_p.P405L	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	405	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AGCATATTTCGGAAGCTTCAT	0.463												
ADD3	120	broad.mit.edu	37	10	111872584	111872584	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:111872584G>A	uc001kyt.3	+	4	559	c.245G>A	c.(244-246)GGC>GAC	p.G82D	ADD3_uc001kys.3_Missense_Mutation_p.G82D|ADD3_uc001kyu.2_Missense_Mutation_p.G82D|ADD3_uc001kyv.2_Missense_Mutation_p.G82D|ADD3_uc001kyw.2_Missense_Mutation_p.G82D	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma) isoform a	82						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			ovary(2)|skin(2)|large_intestine(1)	5		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		ATGAAGAAAGGCCACAACCCA	0.418												
DCLRE1A	9937	broad.mit.edu	37	10	115612924	115612924	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:115612924G>A	uc001law.2	-	1	936	c.18C>T	c.(16-18)TCC>TCT	p.S6S	NHLRC2_uc001lax.1_5'Flank	NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	6	Nuclear localization region.				cell division|mitosis	nucleus	hydrolase activity			skin(2)	2				Epithelial(162;0.0157)|all cancers(201;0.0171)		TGTCTTCTTCGGAAATGTCTT	0.289								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function				
ABLIM1	3983	broad.mit.edu	37	10	116361697	116361697	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:116361697G>T	uc010qsg.1	-	2	367	c.268C>A	c.(268-270)CAC>AAC	p.H90N	ABLIM1_uc010qsh.1_Missense_Mutation_p.H30N|ABLIM1_uc010qsi.1_Missense_Mutation_p.H30N|ABLIM1_uc010qsk.1_Missense_Mutation_p.H14N|ABLIM1_uc009xyp.2_Missense_Mutation_p.H24N|ABLIM1_uc001lbz.1_Missense_Mutation_p.H13N	NM_002313	NP_002304	O14639	ABLM1_HUMAN	actin-binding LIM protein 1 isoform a	90					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TCTGATGGGTGGTGAGGGTCC	0.483												
FAM160B1	57700	broad.mit.edu	37	10	116608484	116608484	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:116608484C>T	uc001lcb.2	+	13	2126	c.1791C>T	c.(1789-1791)GAC>GAT	p.D597D	FAM160B1_uc001lcc.2_Silent_p.D597D	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	597										lung(1)	1						ACCTCCGAGACGCTCATAGGC	0.468												
HSPA12A	259217	broad.mit.edu	37	10	118434405	118434405	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:118434405G>A	uc001lct.2	-	12	2020	c.1915C>T	c.(1915-1917)CGG>TGG	p.R639W	HSPA12A_uc001lcu.2_Missense_Mutation_p.R556W	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	639							ATP binding			ovary(1)	1				all cancers(201;0.0158)		ATCTCCCTCCGGGCGGGCACC	0.572												
PDZD8	118987	broad.mit.edu	37	10	119078467	119078467	+	Silent	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:119078467G>T	uc001lde.1	-	3	1213	c.1014C>A	c.(1012-1014)TCC>TCA	p.S338S		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	338					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		CTCTGTCATAGGATCCAAAAA	0.323												
BAG3	9531	broad.mit.edu	37	10	121436479	121436479	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:121436479G>T	uc001lem.2	+	4	1719	c.1413G>T	c.(1411-1413)GAG>GAT	p.E471D	BAG3_uc001lel.2_Missense_Mutation_p.E470D	NM_004281	NP_004272	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	471	BAG.				anti-apoptosis|apoptosis|protein folding	cytosol				ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		TGGACCCCGAGGGACGAGCCG	0.502												
WDR11	55717	broad.mit.edu	37	10	122626116	122626116	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:122626116C>T	uc010qtf.1	+	8	1268	c.1030C>T	c.(1030-1032)CGA>TGA	p.R344*	WDR11_uc010qte.1_Intron|WDR11_uc001lfd.1_Translation_Start_Site	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	bromodomain and WD repeat domain containing 2	344						integral to membrane					0						CTATGATTTACGAAGCCAGTG	0.438												
TACC2	10579	broad.mit.edu	37	10	123846182	123846182	+	Silent	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:123846182A>G	uc001lfv.2	+	4	4527	c.4167A>G	c.(4165-4167)TCA>TCG	p.S1389S	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.S1389S|TACC2_uc010qtv.1_Silent_p.S1389S	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	1389						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)				AGGGCACATCAGGTGGTGTGG	0.602												
PTPRE	5791	broad.mit.edu	37	10	129861404	129861404	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:129861404C>T	uc001lkb.2	+	10	962	c.683C>T	c.(682-684)GCG>GTG	p.A228V	PTPRE_uc009yat.2_Missense_Mutation_p.A239V|PTPRE_uc010qup.1_RNA|PTPRE_uc009yau.2_Missense_Mutation_p.A228V|PTPRE_uc001lkd.2_Missense_Mutation_p.A170V|PTPRE_uc010quq.1_Missense_Mutation_p.A129V	NM_006504	NP_006495	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	228	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(1)	1		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				CAAAAGTCTGCGACCATCGTC	0.502												
ADAM8	101	broad.mit.edu	37	10	135084451	135084451	+	Missense_Mutation	SNP	C	C	A	rs137890445		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:135084451C>A	uc010qva.1	-	13	1432	c.1381G>T	c.(1381-1383)GGG>TGG	p.G461W	ADAM8_uc010quz.1_Missense_Mutation_p.G500W|ADAM8_uc009ybi.2_Missense_Mutation_p.G500W			P78325	ADAM8_HUMAN	SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8);	461					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			large_intestine(2)|central_nervous_system(1)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		CAGTAGCCCCCGGAGCAGGGC	0.672												
B4GALNT4	338707	broad.mit.edu	37	11	376350	376350	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:376350C>T	uc001lpb.2	+	13	1305	c.1296C>T	c.(1294-1296)GAC>GAT	p.D432D		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	beta	432	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			pancreas(1)	1		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCAACCCGGACGGTGAGTGTC	0.617												
MUC5B	727897	broad.mit.edu	37	11	1264187	1264187	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:1264187C>T	uc009ycr.1	+	47	8282	c.8156C>T	c.(8155-8157)ACG>ATG	p.T2719M	MUC5B_uc001ltb.2_Missense_Mutation_p.T2029M	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	2026	7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTTACCGCCACGGCCACCACA	0.637												
MUC5B	727897	broad.mit.edu	37	11	1271392	1271392	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:1271392G>A	uc009ycr.1	+	51	14827	c.14701G>A	c.(14701-14703)GCC>ACC	p.A4901T	MUC5B_uc001ltb.2_Missense_Mutation_p.A4431T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4428	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GACCACAACAGCCACTACGAC	0.657												
IGF2	3481	broad.mit.edu	37	11	2154748	2154748	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:2154748G>A	uc009yde.2	-	3	408	c.305C>T	c.(304-306)CCG>CTG	p.P102L	IGF2_uc001lvf.2_RNA|IGF2_uc001lvg.2_Missense_Mutation_p.P102L|IGF2_uc009ydf.2_Missense_Mutation_p.P158L|IGF2_uc001lvh.2_Missense_Mutation_p.P102L|INS-IGF2_uc001lvi.2_RNA	NM_001007139	NP_001007140	P01344	IGF2_HUMAN	insulin-like growth factor 2 isoform 1	102					glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)	1		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		GACCCTCACCGGAAGCACGGT	0.642												
NUP98	4928	broad.mit.edu	37	11	3720468	3720468	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:3720468G>A	uc001lyh.2	-	25	4144	c.3853C>T	c.(3853-3855)CGA>TGA	p.R1285*	NUP98_uc001lyi.2_Nonsense_Mutation_p.R1285*|NUP98_uc001lyg.2_Nonsense_Mutation_p.R250*	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1302					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)		GCTCTTCTTCGCTCCAGAATT	0.403			T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML							
DCHS1	8642	broad.mit.edu	37	11	6651700	6651700	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:6651700G>A	uc001mem.1	-	10	4735	c.4325C>T	c.(4324-4326)GCG>GTG	p.A1442V		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	1442	Extracellular (Potential).|Cadherin 14.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCGCCAGCGCCAGCGGGTC	0.741												
EIF4G2	1982	broad.mit.edu	37	11	10824633	10824633	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:10824633C>A	uc001mjc.2	-	11	1357	c.940G>T	c.(940-942)GCT>TCT	p.A314S	EIF4G2_uc001mjb.2_Missense_Mutation_p.A108S|EIF4G2_uc009ygf.2_Missense_Mutation_p.A108S|EIF4G2_uc001mjd.2_Missense_Mutation_p.A314S|EIF4G2_uc001mjf.1_Missense_Mutation_p.A108S|SNORD97_uc009yge.2_5'Flank	NM_001418	NP_001409	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4	314					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TCAAGAAAAGCCTTGCGAGGA	0.348												
INSC	387755	broad.mit.edu	37	11	15247376	15247376	+	Splice_Site	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:15247376T>C	uc001mly.2	+	9	1357	c.1311_splice	c.e9+2	p.Q437_splice	INSC_uc001mlz.2_Splice_Site_p.Q390_splice|INSC_uc001mma.2_Splice_Site_p.Q390_splice|INSC_uc010rcs.1_Splice_Site_p.Q425_splice|INSC_uc001mmb.2_Splice_Site_p.Q390_splice|INSC_uc001mmc.2_Splice_Site_p.Q348_splice	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN	inscuteable isoform a						cell differentiation|nervous system development	cytoplasm	binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						CGGGACCAGGTAAGACGCCCA	0.577												
SAA2	6289	broad.mit.edu	37	11	18266953	18266953	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:18266953G>A	uc001mnz.3	-	4	377	c.340C>T	c.(340-342)CGA>TGA	p.R114*	SAA2_uc009yhj.2_Intron	NM_030754	NP_110381	P02735	SAA_HUMAN	serum amyloid A2 isoform a	114					acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion	high-density lipoprotein particle	G-protein-coupled receptor binding				0					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CCAGCAGGTCGGAAGTGATTG	0.572												
SPTY2D1	144108	broad.mit.edu	37	11	18636955	18636955	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:18636955T>C	uc001moy.2	-	3	1082	c.866A>G	c.(865-867)AAG>AGG	p.K289R	SPTY2D1_uc010rdi.1_Missense_Mutation_p.K289R	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1	289	Ser-rich.									breast(1)	1						AGATCCTGCCTTGATCCTCTC	0.507												
MRGPRX1	259249	broad.mit.edu	37	11	18955405	18955405	+	Silent	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:18955405A>G	uc001mpg.2	-	1	1145	c.927T>C	c.(925-927)CCT>CCC	p.P309P		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	309	Cytoplasmic (Potential).				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(2)|central_nervous_system(1)	3						GGATTTCCTCAGGAAGCTGCC	0.572												
CSRP3	8048	broad.mit.edu	37	11	19213981	19213981	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:19213981G>A	uc001mpk.2	-	2	132	c.15C>T	c.(13-15)GGC>GGT	p.G5G		NM_003476	NP_003467	P50461	CSRP3_HUMAN	cysteine and glycine-rich protein 3	5					cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding				0						TTGCGCCTCCGCCCCAGTTTG	0.488												
NAV2	89797	broad.mit.edu	37	11	19961240	19961240	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:19961240C>T	uc010rdm.1	+	9	2497	c.2136C>T	c.(2134-2136)GCC>GCT	p.A712A	NAV2_uc001mpp.2_Silent_p.A625A|NAV2_uc001mpr.3_Silent_p.A689A	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	712						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						ATGTTACTGCCGAGTCAAGCT	0.532												
PAX6	5080	broad.mit.edu	37	11	31824281	31824281	+	Silent	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:31824281G>T	uc001mtd.3	-	4	1002	c.112C>A	c.(112-114)CGG>AGG	p.R38R	PAX6_uc001mte.3_Silent_p.R38R|PAX6_uc001mtg.3_Silent_p.R38R|PAX6_uc001mtf.3_Silent_p.R38R|PAX6_uc001mth.3_Silent_p.R38R|PAX6_uc009yjr.2_Silent_p.R38R	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	paired box gene 6 isoform a	38	Paired.		Missing (in AN).		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	Lung SC(675;0.225)					TCGCACGGCCGGGCCCCGCTG	0.647									Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation			
C11orf41	25758	broad.mit.edu	37	11	33565470	33565470	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:33565470G>A	uc001mup.3	+	1	1594	c.1470G>A	c.(1468-1470)GTG>GTA	p.V490V	C11orf41_uc001mun.1_Silent_p.V490V	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	490						integral to membrane				ovary(2)	2						AGCAGCCTGTGCAACAGTCAG	0.448												
LDLRAD3	143458	broad.mit.edu	37	11	36250715	36250715	+	Missense_Mutation	SNP	C	C	T	rs149451273		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:36250715C>T	uc001mwk.1	+	6	843	c.806C>T	c.(805-807)GCG>GTG	p.A269V	LDLRAD3_uc010rey.1_Missense_Mutation_p.A220V|LDLRAD3_uc010rez.1_Missense_Mutation_p.A148V|LDLRAD3_uc010rfa.1_RNA	NM_174902	NP_777562	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain	269	Cytoplasmic (Potential).					integral to membrane	receptor activity			central_nervous_system(1)	1	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CACAGGCCTGCGTGGTATGAC	0.587												
RAG1	5896	broad.mit.edu	37	11	36596057	36596057	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:36596057G>A	uc001mwu.3	+	2	1327	c.1203G>A	c.(1201-1203)TCG>TCA	p.S401S	RAG1_uc001mwt.2_RNA	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	401	NBD.		S -> P (in OS).		histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	all_lung(20;0.226)	all_hematologic(20;0.107)				ATCTTCTGTCGCTGACTCGGA	0.483									Familial_Hemophagocytic_Lymphohistiocytosis			
GYLTL1B	120071	broad.mit.edu	37	11	45949753	45949753	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:45949753G>A	uc001nbv.1	+	13	1891	c.1780G>A	c.(1780-1782)GCA>ACA	p.A594T	GYLTL1B_uc001nbw.1_Missense_Mutation_p.A563T|GYLTL1B_uc001nbx.1_Missense_Mutation_p.A594T|GYLTL1B_uc001nby.1_Missense_Mutation_p.A277T|GYLTL1B_uc001nbz.1_Intron	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	594	Lumenal (Potential).				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.226)		CCGAGGCCACGCACCCACAGA	0.672												
NUP160	23279	broad.mit.edu	37	11	47814391	47814391	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:47814391G>A	uc001ngm.2	-	28	3482	c.3397C>T	c.(3397-3399)CGA>TGA	p.R1133*	NUP160_uc009ylw.2_RNA	NM_015231	NP_056046	Q12769	NU160_HUMAN	nucleoporin 160kDa	1133					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						CGAATAAGTCGTAAACAATTG	0.463												
PTPRJ	5795	broad.mit.edu	37	11	48145173	48145173	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:48145173C>A	uc001ngp.3	+	5	980	c.625C>A	c.(625-627)CCA>ACA	p.P209T	PTPRJ_uc001ngo.3_Missense_Mutation_p.P209T	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	209	Extracellular (Potential).|Fibronectin type-III 2.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						AGAGCCGATCCCAGTTTCTGA	0.488												
OR4S1	256148	broad.mit.edu	37	11	48328602	48328602	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:48328602G>A	uc010rhu.1	+	1	828	c.828G>A	c.(826-828)ATG>ATA	p.M276I		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S,	276	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ACATTGTGATGCCACCTTTGC	0.463												
OR4S2	219431	broad.mit.edu	37	11	55418833	55418833	+	Silent	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:55418833T>C	uc001nhs.1	+	1	454	c.454T>C	c.(454-456)TTA>CTA	p.L152L		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S,	152	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.0748)				AGGTGGGTTCTTACACTCCAT	0.428												
OR8H3	390152	broad.mit.edu	37	11	55890450	55890450	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:55890450T>A	uc001nii.1	+	1	602	c.602T>A	c.(601-603)ATT>AAT	p.I201N		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	201	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)					CTGATATTCATTATCGCTGGT	0.408												
TNKS1BP1	85456	broad.mit.edu	37	11	57080198	57080198	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:57080198C>T	uc001njr.2	-	4	2276	c.1964G>A	c.(1963-1965)CGG>CAG	p.R655Q	TNKS1BP1_uc001njs.2_Missense_Mutation_p.R655Q|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.R106Q	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	655	Pro-rich.|Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				GGTCTCAGCCCGGGCTAGGGT	0.652												
OR10Q1	219960	broad.mit.edu	37	11	57995829	57995829	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:57995829G>A	uc010rkd.1	-	1	519	c.519C>T	c.(517-519)TGC>TGT	p.C173C		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	173	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)				GGTGGTGGCCGCAAAAGGGCA	0.652												
ZFP91	80829	broad.mit.edu	37	11	58385066	58385066	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:58385066A>T	uc001nmx.3	+	11	1768	c.1600A>T	c.(1600-1602)ATC>TTC	p.I534F	ZFP91_uc001nmy.3_Missense_Mutation_p.I533F|ZFP91-CNTF_uc010rkm.1_Intron	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN	zinc finger protein 91	534					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TGATGGGAAGATCTTTGTGGG	0.378												
OR5A1	219982	broad.mit.edu	37	11	59211158	59211158	+	Missense_Mutation	SNP	G	G	A	rs140829988		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:59211158G>A	uc001nnx.1	+	1	517	c.517G>A	c.(517-519)GGA>AGA	p.G173R		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A,	173	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2						TCACTTTTGCGGACCCAACAT	0.547												
STX3	6809	broad.mit.edu	37	11	59560902	59560902	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:59560902G>A	uc001nog.2	+	8	780	c.590G>A	c.(589-591)CGA>CAA	p.R197Q	STX3_uc010rkx.1_Missense_Mutation_p.R197Q|STX3_uc010rky.1_Missense_Mutation_p.R100Q|STX3_uc009ymt.1_Missense_Mutation_p.R100Q	NM_004177	NP_004168	Q13277	STX3_HUMAN	syntaxin 3	197	t-SNARE coiled-coil homology.|Cytoplasmic (Potential).				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity			ovary(2)	2						ATTGAGGGACGACACAAGGAC	0.512												
MS4A1	931	broad.mit.edu	37	11	60230571	60230571	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:60230571T>C	uc001npp.2	+	4	672	c.256T>C	c.(256-258)TAC>CAC	p.Y86H	MS4A1_uc009ymy.1_Missense_Mutation_p.Y86H|MS4A1_uc001npq.2_Missense_Mutation_p.Y86H|MS4A1_uc009yna.2_Missense_Mutation_p.Y86H|MS4A1_uc009ymz.2_Missense_Mutation_p.Y86H|MS4A1_uc010rlc.1_Intron	NM_152866	NP_690605	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member	86	Helical; (Potential).				B cell activation|immune response	integral to plasma membrane				ovary(3)|lung(2)	5					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	GACTGTGTGGTACCCTCTCTG	0.498												
MS4A10	341116	broad.mit.edu	37	11	60557821	60557821	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:60557821G>T	uc001npz.1	+	2	109	c.13G>T	c.(13-15)GCC>TCC	p.A5S		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member	5	Cytoplasmic (Potential).					integral to membrane	receptor activity			ovary(1)|skin(1)	2						GAAAGCAGAAGCCACAGTTAT	0.607												
SLC15A3	51296	broad.mit.edu	37	11	60711286	60711286	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:60711286G>A	uc001nqn.2	-	3	1105	c.871C>T	c.(871-873)CTG>TTG	p.L291L	SLC15A3_uc001nqo.2_Silent_p.L291L	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	solute carrier family 15, member 3	291					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity				0						TCGTCGGCCAGCACGCGGGCA	0.483												
DDB1	1642	broad.mit.edu	37	11	61079513	61079513	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:61079513C>T	uc001nrc.3	-	17	2339	c.2113G>A	c.(2113-2115)GAT>AAT	p.D705N	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.D705N	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	705	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						TGGATCTCATCGATGGTGCCA	0.552								NER				
C11orf9	745	broad.mit.edu	37	11	61539203	61539203	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:61539203G>A	uc001nsc.1	+	6	1068	c.972G>A	c.(970-972)CCG>CCA	p.P324P	C11orf9_uc001nse.1_Silent_p.P315P	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	myelin gene regulatory factor isoform 2	324	NDT80.|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						CTTGGCACCCGCCAGGTGCCC	0.697												
C11orf9	745	broad.mit.edu	37	11	61541548	61541548	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:61541548G>A	uc001nsc.1	+	8	1321	c.1225G>A	c.(1225-1227)GGC>AGC	p.G409S	C11orf9_uc001nse.1_Missense_Mutation_p.G400S	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	myelin gene regulatory factor isoform 2	409	NDT80.				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						AGTGTACATCGGCATGCTGGG	0.587												
RAB3IL1	5866	broad.mit.edu	37	11	61672092	61672092	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:61672092C>T	uc001nso.2	-	7	983	c.825G>A	c.(823-825)ACG>ACA	p.T275T	RAB3IL1_uc001nsp.2_Silent_p.T249T	NM_013401	NP_037533	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	275							protein binding			skin(2)|central_nervous_system(1)	3						CAATGGTGAGCGTGTTGTCCT	0.647												
MTA2	9219	broad.mit.edu	37	11	62361501	62361501	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:62361501T>C	uc001ntq.1	-	18	2234	c.1853A>G	c.(1852-1854)AAG>AGG	p.K618R	TUT1_uc001nto.2_5'Flank|MTA2_uc010rlx.1_Missense_Mutation_p.K445R	NM_004739	NP_004730	O94776	MTA2_HUMAN	metastasis-associated protein 2	618					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						GGTCAGAGCCTTCCGTAGGGC	0.567											OREG0021027	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
EML3	256364	broad.mit.edu	37	11	62376578	62376578	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:62376578C>T	uc001ntu.1	-	7	1093	c.785G>A	c.(784-786)CGC>CAC	p.R262H	EML3_uc001ntr.1_Missense_Mutation_p.R234H|EML3_uc001nts.1_Missense_Mutation_p.R234H|EML3_uc001ntt.1_Missense_Mutation_p.R146H|EML3_uc010rly.1_Missense_Mutation_p.R262H|EML3_uc009yny.1_Missense_Mutation_p.R45H	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like	262						cytoplasm|microtubule	protein binding			ovary(1)	1						CAGATTAGAGCGGGAGTCACG	0.582												
TMEM179B	374395	broad.mit.edu	37	11	62557411	62557411	+	Silent	SNP	C	C	T	rs149169067		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:62557411C>T	uc001nvd.3	+	5	582	c.552C>T	c.(550-552)GTC>GTT	p.V184V		NM_199337	NP_955369	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	184	Helical; (Potential).					integral to membrane					0						TGCTCCAGGTCGTGCAGTGGA	0.557												
NXF1	10482	broad.mit.edu	37	11	62569689	62569689	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:62569689A>G	uc001nvf.1	-	4	549	c.413T>C	c.(412-414)ATG>ACG	p.M138T	NXF1_uc001nvg.1_Missense_Mutation_p.M138T|NXF1_uc009yog.1_Missense_Mutation_p.M181T|NXF1_uc010rmh.1_Missense_Mutation_p.M1T	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1 isoform 1	138	Interaction with THOC4.|RRM.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			skin(3)	3						GCTCTGAATCATGCTCAGGAG	0.502												
OTUB1	55611	broad.mit.edu	37	11	63764868	63764868	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:63764868G>A	uc001nyf.1	+	7	1270	c.666G>A	c.(664-666)GCG>GCA	p.A222A	OTUB1_uc001nyg.1_Silent_p.A265A|OTUB1_uc010rmz.1_Silent_p.A259A|OTUB1_uc010rna.1_Silent_p.A231A|OTUB1_uc009ypa.2_Silent_p.A121A|OTUB1_uc009ypb.1_Silent_p.A192A	NM_017670	NP_060140	Q96FW1	OTUB1_HUMAN	otubain 1	222	OTU.				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity			breast(1)	1						ACATCATTGCGCTGGCCCAGG	0.677												
RPS6KA4	8986	broad.mit.edu	37	11	64137189	64137189	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:64137189G>A	uc001oae.2	+	14	1704	c.1621G>A	c.(1621-1623)GAC>AAC	p.D541N	RPS6KA4_uc001oad.2_Missense_Mutation_p.D535N|RPS6KA4_uc010rnl.1_Missense_Mutation_p.D478N|RPS6KA4_uc001oaf.2_Missense_Mutation_p.D534N|RPS6KA4_uc009ypp.2_Intron	NM_003942	NP_003933	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	541	Protein kinase 2.				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						GTACGCCGACGACACGCCCGG	0.726												
PYGM	5837	broad.mit.edu	37	11	64527250	64527250	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:64527250C>T	uc001oax.3	-	1	938	c.121G>A	c.(121-123)GTA>ATA	p.V41I	PYGM_uc001oay.3_Missense_Mutation_p.V41I	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	41					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	CGGTCCTTTACGAGTGTGAAA	0.577												
SNX15	29907	broad.mit.edu	37	11	64803137	64803137	+	Splice_Site	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:64803137T>C	uc001oci.3	+	9	1317	c.664_splice	c.e9+2	p.E222_splice	SNX15_uc009ypy.2_Splice_Site_p.E222_splice|SNX15_uc001ocj.2_Splice_Site_p.E222_splice|SNX15_uc001ock.2_Splice_Site_p.G222_splice	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN	sorting nexin 15 isoform A						cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			ovary(1)	1						CCAAGGAAGGTAATGAGCTGG	0.637												
ZFPL1	7542	broad.mit.edu	37	11	64854021	64854021	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:64854021G>A	uc001ocq.1	+	4	514	c.349G>A	c.(349-351)GCA>ACA	p.A117T	CDCA5_uc001ocp.2_5'Flank	NM_006782	NP_006773	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	117	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			ovary(1)	1						CGTGGCCTCCGCACTGAGAGA	0.657												
MAP3K11	4296	broad.mit.edu	37	11	65367021	65367021	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:65367021C>T	uc001oew.2	-	9	2543	c.2050G>A	c.(2050-2052)GCG>ACG	p.A684T	MAP3K11_uc001oev.2_Missense_Mutation_p.A100T|MAP3K11_uc010rol.1_Missense_Mutation_p.A427T|MAP3K11_uc001oex.1_Missense_Mutation_p.A191T	NM_002419	NP_002410	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase	684	Pro-rich.				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						GGGCAGGGCGCGGGCGTTGGC	0.751												
CFL1	1072	broad.mit.edu	37	11	65623611	65623611	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:65623611C>T	uc001ofs.2	-	2	340	c.106G>A	c.(106-108)GTG>ATG	p.V36M	CFL1_uc001oft.2_Missense_Mutation_p.V36M|CFL1_uc001ofu.2_3'UTR	NM_005507	NP_005498	P23528	COF1_HUMAN	cofilin 1 (non-muscle)	36	ADF-H.				actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding				0				READ - Rectum adenocarcinoma(159;0.169)		CAGAAGAGCACCGCCTTCTTG	0.567												
FIBP	9158	broad.mit.edu	37	11	65651890	65651890	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:65651890G>A	uc001ogd.2	-	9	1119	c.998C>T	c.(997-999)GCG>GTG	p.A333V	FIBP_uc009yqu.2_Silent_p.S318S|FIBP_uc001oge.2_Missense_Mutation_p.A326V	NM_198897	NP_942600	O43427	FIBP_HUMAN	FGF intracellular binding protein isoform a	333					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.166)		GTGGACAGACGCTGAATACTG	0.612											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SART1	9092	broad.mit.edu	37	11	65732567	65732567	+	Silent	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:65732567G>T	uc001ogl.2	+	4	524	c.432G>T	c.(430-432)GCG>GCT	p.A144A	SART1_uc010rot.1_5'UTR	NM_005146	NP_005137	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T	144					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				ovary(1)	1						TTCCAGAGGCGGGCACCAAGG	0.672												
CD248	57124	broad.mit.edu	37	11	66084234	66084234	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:66084234G>A	uc001ohm.1	-	1	282	c.265C>T	c.(265-267)CGG>TGG	p.R89W		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	89	C-type lectin.|Extracellular (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	CGGGCCTGCCGCTGCAGCCCG	0.726												
ACTN3	89	broad.mit.edu	37	11	66327746	66327746	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:66327746G>A	uc001oio.1	+	14	1659	c.1641G>A	c.(1639-1641)CAG>CAA	p.Q547Q	ACTN3_uc010rpi.1_RNA	NM_001104	NP_001095	Q08043	ACTN3_HUMAN	actinin, alpha 3	547	Spectrin 3.				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle				0						AGGACCTGCAGGACGTGTGGC	0.622												
RCE1	9986	broad.mit.edu	37	11	66611801	66611801	+	Silent	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:66611801T>C	uc001ojk.1	+	4	461	c.417T>C	c.(415-417)CCT>CCC	p.P139P	RCE1_uc001ojl.1_Silent_p.P35P	NM_005133	NP_005124	Q9Y256	FACE2_HUMAN	prenyl protein peptidase RCE1 isoform 1	139					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			ovary(1)|breast(1)	2						TGGATTGCCCTTGTGACCTGG	0.537												
PPP1CA	5499	broad.mit.edu	37	11	67168671	67168671	+	Splice_Site	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:67168671C>T	uc001okw.1	-	2	179	c.56_splice	c.e2-1	p.V19_splice	PPP1CA_uc009yro.1_Splice_Site|PPP1CA_uc001okt.1_Missense_Mutation_p.V24M|PPP1CA_uc001oku.1_Missense_Mutation_p.V30M|PPP1CA_uc001okv.1_Intron|PPP1CA_uc001okx.1_Splice_Site_p.V107_splice|PPP1CA_uc001oky.2_Splice_Site_p.V19_splice|TBC1D10C_uc001okz.2_5'Flank|TBC1D10C_uc001ola.2_5'Flank|TBC1D10C_uc001olb.2_5'Flank	NM_002708	NP_002699	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha						cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity			breast(1)|pancreas(1)	2			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GAGCCCTGCACTGGGGCGCAA	0.642												
CABP4	57010	broad.mit.edu	37	11	67223133	67223133	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:67223133C>T	uc001olo.2	+	1	316	c.239C>T	c.(238-240)CCG>CTG	p.P80L	GPR152_uc001olm.2_5'Flank|CABP4_uc001oln.2_Intron	NM_145200	NP_660201	P57796	CABP4_HUMAN	calcium binding protein 4	80					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding				0			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GGAGAGGGGCCGGCGGGCGCA	0.701												
TCIRG1	10312	broad.mit.edu	37	11	67808841	67808841	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:67808841G>A	uc001one.2	+	2	211	c.103G>A	c.(103-105)GTG>ATG	p.V35M	TCIRG1_uc001ond.1_Missense_Mutation_p.V35M|TCIRG1_uc001onf.1_Missense_Mutation_p.V35M|TCIRG1_uc001ong.2_5'Flank|TCIRG1_uc001onh.2_5'Flank|TCIRG1_uc001oni.2_5'Flank	NM_006019	NP_006010	Q13488	VPP3_HUMAN	T-cell, immune regulator 1 isoform a	35	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			ovary(1)	1						GCTGGGCCTCGTGGAGTTCAG	0.687												
SUV420H1	51111	broad.mit.edu	37	11	67926307	67926307	+	Silent	SNP	G	G	A	rs145782213	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:67926307G>A	uc001onm.1	-	11	1762	c.1506C>T	c.(1504-1506)GCC>GCT	p.A502A	SUV420H1_uc009yse.1_Silent_p.A88A|SUV420H1_uc001onn.1_Silent_p.A330A|SUV420H1_uc009ysf.2_Silent_p.A262A	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3						TGGCAACTGCGGCTTGGGCTG	0.507												
LRP5	4041	broad.mit.edu	37	11	68191056	68191056	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:68191056G>A	uc001ont.2	+	14	3202	c.3127G>A	c.(3127-3129)GAG>AAG	p.E1043K	LRP5_uc009ysg.2_Missense_Mutation_p.E453K	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	1043	LDL-receptor class B 17.|Beta-propeller 4.|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						CTGGACGTGCGAGGCCACCAA	0.622												
CLPB	81570	broad.mit.edu	37	11	72004579	72004579	+	Silent	SNP	C	C	A	rs140281600		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:72004579C>A	uc001osj.2	-	17	2006	c.1956G>T	c.(1954-1956)ACG>ACT	p.T652T	CLPB_uc010rqx.1_Silent_p.T607T|CLPB_uc010rqy.1_Silent_p.T593T|CLPB_uc001osk.2_Silent_p.T622T|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Silent_p.T451T|CLPB_uc001osi.2_Silent_p.T260T	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	caseinolytic peptidase B	652					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			pancreas(1)	1						AGTCCTCCACCGTGATGCGCA	0.607												
P2RY2	5029	broad.mit.edu	37	11	72946051	72946051	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:72946051G>A	uc001otj.2	+	3	1180	c.847G>A	c.(847-849)GCC>ACC	p.A283T	P2RY2_uc001otk.2_Missense_Mutation_p.A283T|P2RY2_uc001otl.2_Missense_Mutation_p.A283T	NM_002564	NP_002555	P41231	P2RY2_HUMAN	purinergic receptor P2Y2	283	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(2)|lung(1)|skin(1)	4					Suramin(DB04786)	CACCCTCAACGCCATCAACAT	0.617												
P2RY6	5031	broad.mit.edu	37	11	73007984	73007984	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:73007984C>T	uc001otm.2	+	4	826	c.421C>T	c.(421-423)CGC>TGC	p.R141C	P2RY6_uc001otn.2_Missense_Mutation_p.R141C|P2RY6_uc001oto.2_Missense_Mutation_p.R141C|P2RY6_uc001otp.2_Missense_Mutation_p.R141C|P2RY6_uc001otq.2_Missense_Mutation_p.R141C|P2RY6_uc001otr.2_Missense_Mutation_p.R141C|P2RY6_uc001ots.2_Missense_Mutation_p.R141C	NM_176796	NP_789766	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y6	141	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1						ACGTGGGGGCCGCCGGGCTGC	0.662												
DNAJB13	374407	broad.mit.edu	37	11	73662142	73662142	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:73662142G>A	uc001ouo.2	+	1	779	c.28G>A	c.(28-30)GGG>AGG	p.G10R		NM_153614	NP_705842	P59910	DJB13_HUMAN	testis spermatogenesis apoptosis-related protein	10	J.				apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding				0	Breast(11;7.42e-05)					CTCTGTGCTCGGGATCACTCG	0.582												
UVRAG	7405	broad.mit.edu	37	11	75562938	75562938	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:75562938G>A	uc001oxc.2	+	2	369	c.128G>A	c.(127-129)CGA>CAA	p.R43Q	UVRAG_uc010rrw.1_5'UTR	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	43					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			skin(4)|lung(2)	6						CGGCGTCTTCGACATCTTCGG	0.363												
GDPD4	220032	broad.mit.edu	37	11	76944092	76944092	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:76944092A>G	uc001oyf.2	-	13	1618	c.1367T>C	c.(1366-1368)CTT>CCT	p.L456P		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain	456	Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			skin(1)	1						AGGGTGATCAAGCTGACTCAG	0.527												
GAB2	9846	broad.mit.edu	37	11	77934561	77934561	+	Silent	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:77934561T>C	uc001ozh.2	-	6	1464	c.1464A>G	c.(1462-1464)TCA>TCG	p.S488S	GAB2_uc001ozg.2_Silent_p.S450S	NM_080491	NP_536739	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2 isoform a	488					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity			ovary(5)|lung(1)	6	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GGTAGCCAAGTGAGTCAAAGT	0.557												
PRCP	5547	broad.mit.edu	37	11	82561043	82561043	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:82561043C>T	uc001ozs.2	-	5	777	c.664G>A	c.(664-666)GTA>ATA	p.V222I	PRCP_uc001ozr.2_Missense_Mutation_p.V243I	NM_005040	NP_005031	P42785	PCP_HUMAN	prolylcarboxypeptidase isoform 1 preproprotein	222	SKS domain.				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			skin(1)	1						TCTGTAGTTACGATCTTCATA	0.403												
C11orf82	220042	broad.mit.edu	37	11	82644690	82644690	+	Silent	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:82644690A>G	uc001ozt.2	+	6	2554	c.2310A>G	c.(2308-2310)CCA>CCG	p.P770P	C11orf82_uc010rsr.1_Silent_p.P469P|C11orf82_uc010rss.1_Silent_p.P469P|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	nitric oxide-inducible gene protein	770					apoptosis|cell cycle arrest	cytoplasm|nucleus				ovary(2)	2						ACTTTGTTCCATGTTCACAGT	0.353												
DLG2	1740	broad.mit.edu	37	11	83770433	83770433	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:83770433C>T	uc001paj.2	-	6	832	c.529G>A	c.(529-531)GTT>ATT	p.V177I	DLG2_uc001pai.2_Missense_Mutation_p.V126I|DLG2_uc010rsy.1_Missense_Mutation_p.V144I|DLG2_uc010rsz.1_Missense_Mutation_p.V177I|DLG2_uc010rta.1_Missense_Mutation_p.V177I|DLG2_uc001pak.2_Missense_Mutation_p.V282I|DLG2_uc010rtb.1_Missense_Mutation_p.V144I|DLG2_uc001pal.1_Missense_Mutation_p.V177I|DLG2_uc001pam.1_Missense_Mutation_p.V216I	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	177	PDZ 1.			V -> A (in Ref. 1; AAB04949).		cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TACAGCCGAACGATAGACCCT	0.453												
CCDC89	220388	broad.mit.edu	37	11	85396668	85396668	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:85396668A>G	uc001pau.1	-	1	653	c.506T>C	c.(505-507)CTG>CCG	p.L169P		NM_152723	NP_689936	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	169	Potential.					cytoplasm|nucleus					0		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CTCATCCTTCAGAGCCTGGCT	0.537												
GRM5	2915	broad.mit.edu	37	11	88583111	88583111	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:88583111G>A	uc001pcq.2	-	2	1074	c.874C>T	c.(874-876)CGC>TGC	p.R292C	GRM5_uc009yvm.2_Missense_Mutation_p.R292C	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	292	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AGACCCAGGCGCCTCATGGCC	0.522												
FAT3	120114	broad.mit.edu	37	11	92533683	92533683	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:92533683G>A	uc001pdj.3	+	9	7521	c.7504G>A	c.(7504-7506)GTA>ATA	p.V2502I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2502	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)				AAGCACATACGTAGCTGAGGT	0.498										TCGA Ovarian(4;0.039)		
MTNR1B	4544	broad.mit.edu	37	11	92703084	92703084	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:92703084G>A	uc001pdk.1	+	1	296	c.193G>A	c.(193-195)GTG>ATG	p.V65M		NM_005959	NP_005950	P49286	MTR1B_HUMAN	melatonin receptor 1B	65	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	GATCCTCTCCGTGCTCAGGAA	0.647												
PANX1	24145	broad.mit.edu	37	11	93912987	93912987	+	Silent	SNP	C	C	T	rs74832612	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:93912987C>T	uc001per.2	+	4	1150	c.765C>T	c.(763-765)AAC>AAT	p.N255N	PANX1_uc001peq.2_Silent_p.N255N	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	pannexin 1	255	Extracellular (Potential).			N->Q: Impairs glycosylation.	positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCCTGAGAAACGACAGCACCG	0.488												
ANKRD49	54851	broad.mit.edu	37	11	94231635	94231635	+	Silent	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:94231635A>G	uc001pew.2	+	3	796	c.657A>G	c.(655-657)ACA>ACG	p.T219T	ANKRD49_uc001pex.2_3'UTR|ANKRD49_uc001pey.2_RNA	NM_017704	NP_060174	Q8WVL7	ANR49_HUMAN	fetal globin inducing factor	219					positive regulation of transcription, DNA-dependent					central_nervous_system(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCAGGAGGACAAGTATCTATC	0.393												
SFRS2B	10929	broad.mit.edu	37	11	94800992	94800992	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:94800992C>T	uc001pff.2	+	2	938	c.603C>T	c.(601-603)AGC>AGT	p.S201S	SFRS2B_uc001pfg.1_5'Flank	NM_032102	NP_115285	Q9BRL6	SRSF8_HUMAN	splicing factor, arginine/serine-rich 2B	201	Arg-rich.				mRNA processing|RNA splicing	nucleus	nucleotide binding|RNA binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTCGCTACAGCCGATATCACA	0.562												
MMP20	9313	broad.mit.edu	37	11	102487787	102487787	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:102487787A>G	uc001phc.2	-	2	143	c.130T>C	c.(130-132)TAT>CAT	p.Y44H		NM_004771	NP_004762	O60882	MMP20_HUMAN	matrix metalloproteinase 20 preproprotein	44					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			urinary_tract(1)|skin(1)	2	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		TTGTCAAGATACGCCTGAAAT	0.448												
MMP10	4319	broad.mit.edu	37	11	102650323	102650323	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:102650323G>A	uc001phg.1	-	2	281	c.259C>T	c.(259-261)CGC>TGC	p.R87C		NM_002425	NP_002416	P09238	MMP10_HUMAN	matrix metalloproteinase 10 preproprotein	87					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			kidney(1)|lung(1)|breast(1)|central_nervous_system(1)	4	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		CTGGGCTTGCGCATCACCTCC	0.488												
CWF19L2	143884	broad.mit.edu	37	11	107299920	107299920	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:107299920C>T	uc010rvp.1	-	8	1068	c.1038G>A	c.(1036-1038)ACG>ACA	p.T346T	CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control	346							catalytic activity				0		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CTCTTCTACACGTTTCTAAAG	0.348												
ATM	472	broad.mit.edu	37	11	108115583	108115583	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:108115583C>T	uc001pkb.1	+	7	1116	c.731C>T	c.(730-732)GCT>GTT	p.A244V	ATM_uc009yxr.1_Missense_Mutation_p.A244V	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	244					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AAGACTTTGGCTGTCAACTTT	0.363			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)		
USP28	57646	broad.mit.edu	37	11	113704197	113704197	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:113704197G>A	uc001poh.2	-	7	737	c.704C>T	c.(703-705)CCG>CTG	p.P235L	USP28_uc010rwy.1_Missense_Mutation_p.P110L|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.P235L|USP28_uc010rwz.1_Missense_Mutation_p.P235L	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	235					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GGCTGCAGACGGGTCTACAAA	0.398												
APOA5	116519	broad.mit.edu	37	11	116661360	116661360	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:116661360G>A	uc001ppr.2	-	3	593	c.585C>T	c.(583-585)GCC>GCT	p.A195A	ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Silent_p.A195A|APOA5_uc009yzf.2_Silent_p.A195A|APOA5_uc009yzg.2_Silent_p.A221A	NM_052968	NP_443200	Q6Q788	APOA5_HUMAN	apolipoprotein AV precursor	195					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding				0	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CCAGGCTCTCGGCGTATGGGT	0.711												
APOA4	337	broad.mit.edu	37	11	116692251	116692251	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:116692251G>T	uc001pps.1	-	3	627	c.523C>A	c.(523-525)CTG>ATG	p.L175M		NM_000482	NP_000473			apolipoprotein A-IV precursor												0	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GAGGCCTGCAGGCTGTCGGCG	0.672												
SIK3	23387	broad.mit.edu	37	11	116730138	116730138	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:116730138G>A	uc001ppy.2	-	19	2326	c.2290C>T	c.(2290-2292)CCA>TCA	p.P764S	SIK3_uc001ppz.2_Missense_Mutation_p.P663S|SIK3_uc001pqa.2_Missense_Mutation_p.P764S|SIK3_uc001ppw.2_Missense_Mutation_p.P181S|SIK3_uc001ppx.2_Missense_Mutation_p.P202S|SIK3_uc001pqb.2_Missense_Mutation_p.P67S	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	764	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						GCTGTGCCTGGCATGTTGCTG	0.597											OREG0003491	type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
CEP164	22897	broad.mit.edu	37	11	117253626	117253626	+	Silent	SNP	G	G	A	rs143512199	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:117253626G>A	uc001prc.2	+	14	1839	c.1692G>A	c.(1690-1692)GCG>GCA	p.A564A	CEP164_uc001prb.2_Silent_p.A567A|CEP164_uc010rxk.1_Silent_p.A538A|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_5'Flank	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	564	Glu-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AGAAGGTGGCGGTCAGCCCCA	0.632												
CEP164	22897	broad.mit.edu	37	11	117265117	117265117	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:117265117C>T	uc001prc.2	+	21	2815	c.2668C>T	c.(2668-2670)CGC>TGC	p.R890C	CEP164_uc001prb.2_Missense_Mutation_p.R893C|CEP164_uc010rxk.1_Missense_Mutation_p.R864C|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Missense_Mutation_p.R323C	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	890	Glu-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AGAGCTGGAGCGCCTGCAGAG	0.662												
CEP164	22897	broad.mit.edu	37	11	117267320	117267320	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:117267320T>G	uc001prc.2	+	26	3418	c.3271T>G	c.(3271-3273)TTG>GTG	p.L1091V	CEP164_uc001prb.2_Missense_Mutation_p.L1094V|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Missense_Mutation_p.L524V	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1091					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GGACTTATACTTGGACAGGTG	0.483												
DSCAML1	57453	broad.mit.edu	37	11	117376306	117376306	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:117376306C>T	uc001prh.1	-	9	2107	c.2105G>A	c.(2104-2106)GGC>GAC	p.G702D		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	642	Extracellular (Potential).|Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GATGGTCACGCCCGAGCCTGA	0.577												
USP2	9099	broad.mit.edu	37	11	119243494	119243494	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:119243494G>A	uc001pwm.3	-	2	992	c.697C>T	c.(697-699)CGC>TGC	p.R233C	USP2_uc001pwn.3_Intron	NM_004205	NP_004196	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2 isoform a	233					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			ovary(2)|urinary_tract(1)|skin(1)	4		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		AGCGTGTAGCGGCCAATGGGT	0.647												
GRIK4	2900	broad.mit.edu	37	11	120702624	120702624	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:120702624G>A	uc001pxn.2	+	7	862	c.575G>A	c.(574-576)CGC>CAC	p.R192H	GRIK4_uc009zav.1_Missense_Mutation_p.R192H|GRIK4_uc009zaw.1_Missense_Mutation_p.R192H|GRIK4_uc009zax.1_Missense_Mutation_p.R192H	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	192	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CTGTCCGTCCGCATGCTGGAT	0.607												
UBASH3B	84959	broad.mit.edu	37	11	122659932	122659932	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:122659932C>T	uc001pyi.3	+	6	1256	c.896C>T	c.(895-897)ACG>ATG	p.T299M		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing,	299	SH3.					cytoplasm|nucleus	protein tyrosine phosphatase activity			central_nervous_system(1)	1		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		ATCTATGGCACGTCCTTAACC	0.527												
ROBO3	64221	broad.mit.edu	37	11	124738967	124738967	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:124738967G>A	uc001qbc.2	+	2	622	c.430G>A	c.(430-432)GTG>ATG	p.V144M		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3	144	Ig-like C2-type 1.|Extracellular (Potential).				axon midline choice point recognition	integral to membrane	receptor activity			breast(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CTACACTTGCGTGGCTCGCAA	0.682												
ROBO4	54538	broad.mit.edu	37	11	124757063	124757063	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:124757063C>A	uc001qbg.2	-	15	2385	c.2245G>T	c.(2245-2247)GCC>TCC	p.A749S	ROBO4_uc010sas.1_Missense_Mutation_p.A604S|ROBO4_uc001qbh.2_Missense_Mutation_p.A639S|ROBO4_uc001qbi.2_Missense_Mutation_p.A307S	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	749	Pro/Ser-rich.				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)		GGGATGGGGGCTGCTGGCAGC	0.637												
CCDC15	80071	broad.mit.edu	37	11	124845023	124845023	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:124845023G>A	uc001qbm.3	+	5	807	c.548G>A	c.(547-549)CGG>CAG	p.R183Q		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	183	Potential.					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)		GCACGTCACCGGCTAGCATCC	0.383												
PKNOX2	63876	broad.mit.edu	37	11	125281699	125281699	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:125281699C>T	uc001qbu.2	+	10	1188	c.874C>T	c.(874-876)CGA>TGA	p.R292*	PKNOX2_uc010saz.1_Nonsense_Mutation_p.R263*|PKNOX2_uc010sba.1_Nonsense_Mutation_p.R263*|PKNOX2_uc010sbb.1_Nonsense_Mutation_p.R228*|PKNOX2_uc001qbv.2_Nonsense_Mutation_p.R57*	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	292	Homeobox.					nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CAAGAACAAACGAGGAGTCTT	0.517												
SRPR	6734	broad.mit.edu	37	11	126135202	126135202	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:126135202G>A	uc001qdh.2	-	10	1323	c.1272C>T	c.(1270-1272)TGC>TGT	p.C424C	SRPR_uc010sbm.1_Silent_p.C396C	NM_003139	NP_003130	P08240	SRPR_HUMAN	signal recognition particle receptor	424					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)		CATTAACGCCGCAGAAGGTGA	0.532												
PRDM10	56980	broad.mit.edu	37	11	129802014	129802014	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:129802014T>A	uc001qfm.2	-	10	1502	c.1270A>T	c.(1270-1272)AGT>TGT	p.S424C	PRDM10_uc001qfj.2_Missense_Mutation_p.S338C|PRDM10_uc001qfk.2_Missense_Mutation_p.S338C|PRDM10_uc001qfl.2_Missense_Mutation_p.S338C|PRDM10_uc010sbx.1_Missense_Mutation_p.S338C|PRDM10_uc001qfn.2_Missense_Mutation_p.S424C|PRDM10_uc009zct.1_Missense_Mutation_p.S456C	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	PR domain containing 10 isoform 1	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CCATCGTCACTCTTTTCCCCA	0.582												
PRDM10	56980	broad.mit.edu	37	11	129802017	129802017	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:129802017T>C	uc001qfm.2	-	10	1499	c.1267A>G	c.(1267-1269)AAG>GAG	p.K423E	PRDM10_uc001qfj.2_Missense_Mutation_p.K337E|PRDM10_uc001qfk.2_Missense_Mutation_p.K337E|PRDM10_uc001qfl.2_Missense_Mutation_p.K337E|PRDM10_uc010sbx.1_Missense_Mutation_p.K337E|PRDM10_uc001qfn.2_Missense_Mutation_p.K423E|PRDM10_uc009zct.1_Missense_Mutation_p.K455E	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	PR domain containing 10 isoform 1	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TCGTCACTCTTTTCCCCATTT	0.582												
IGSF9B	22997	broad.mit.edu	37	11	133814114	133814114	+	Splice_Site	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:133814114C>T	uc001qgx.3	-	3	640	c.409_splice	c.e3+1	p.A137_splice		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B							integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCGTCACTCACCGTTGATGGT	0.617												
NCAPD3	23310	broad.mit.edu	37	11	134063940	134063940	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:134063940C>T	uc001qhd.1	-	15	2401	c.1795G>A	c.(1795-1797)GCC>ACC	p.A599T	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	599	HEAT 3.				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GACTGGAGGGCCTGCTTCCGG	0.443												
KDM5A	5927	broad.mit.edu	37	12	432818	432818	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:432818G>A	uc001qif.1	-	15	2461	c.2098C>T	c.(2098-2100)CTC>TTC	p.L700F	KDM5A_uc001qie.1_Missense_Mutation_p.L700F|KDM5A_uc010sdn.1_Missense_Mutation_p.L659F|KDM5A_uc010sdo.1_Missense_Mutation_p.L319F	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	700					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						GGATGGTAGAGACATACAAGC	0.428			T 	NUP98	AML							
CACNA1C	775	broad.mit.edu	37	12	2800302	2800302	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:2800302C>T	uc009zdu.1	+	50	6916	c.6603C>T	c.(6601-6603)CGC>CGT	p.R2201R	CACNA1C_uc009zdv.1_Silent_p.R2115R|CACNA1C_uc001qkb.2_Silent_p.R2118R|CACNA1C_uc001qkc.2_Silent_p.R2137R|CACNA1C_uc001qke.2_Silent_p.R2107R|CACNA1C_uc001qkf.2_Silent_p.R2126R|CACNA1C_uc001qjz.2_Silent_p.R2118R|CACNA1C_uc001qkd.2_Silent_p.R2137R|CACNA1C_uc001qkg.2_Silent_p.R2124R|CACNA1C_uc009zdw.1_Silent_p.R2159R|CACNA1C_uc001qkh.2_Silent_p.R2126R|CACNA1C_uc001qkl.2_Silent_p.R2166R|CACNA1C_uc001qkn.2_Silent_p.R2118R|CACNA1C_uc001qko.2_Silent_p.R2138R|CACNA1C_uc001qkp.2_Silent_p.R2118R|CACNA1C_uc001qkr.2_Silent_p.R2135R|CACNA1C_uc001qku.2_Silent_p.R2153R|CACNA1C_uc001qkq.2_Silent_p.R2146R|CACNA1C_uc001qks.2_Silent_p.R2118R|CACNA1C_uc001qkt.2_Silent_p.R2137R|CACNA1C_uc001qki.1_Silent_p.R1925R|CACNA1C_uc001qkj.1_Silent_p.R1889R|CACNA1C_uc001qkk.1_Silent_p.R1854R|CACNA1C_uc001qkm.1_Silent_p.R1914R|CACNA1C_uc010sea.1_Silent_p.R809R|uc001qkx.1_5'Flank|CACNA1C_uc001qky.1_Silent_p.R436R	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	2201	Cytoplasmic (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)	GCTGTGTGCGCGCGCGGGGTC	0.652												
NRIP2	83714	broad.mit.edu	37	12	2939904	2939904	+	Silent	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:2939904T>C	uc001qlc.2	-	2	537	c.465A>G	c.(463-465)ACA>ACG	p.T155T	NRIP2_uc010sed.1_Silent_p.T155T	NM_031474	NP_113662	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	155					proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CTGGAATCTCTGTCCTGCTGG	0.577												
KCNA6	3742	broad.mit.edu	37	12	4919519	4919519	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:4919519C>T	uc001qng.2	+	1	1178	c.312C>T	c.(310-312)GGC>GGT	p.G104G		NM_002235	NP_002226	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related	104						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(2)|ovary(1)	3						AGTCTGGGGGCCGCCTGCGGA	0.662										HNSCC(72;0.22)		
VWF	7450	broad.mit.edu	37	12	6128559	6128559	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:6128559C>T	uc001qnn.1	-	28	4275	c.4025G>A	c.(4024-4026)CGC>CAC	p.R1342H	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1342	VWFA 1; binding site for platelet glycoprotein Ib.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	GCTGGCAATGCGCCGCAGCTC	0.617												
CDCA3	83461	broad.mit.edu	37	12	6958314	6958314	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:6958314C>A	uc001qrg.2	-	6	828	c.700G>T	c.(700-702)GGA>TGA	p.G234*	CDCA3_uc001qre.2_Intron|uc001qrf.1_5'Flank|USP5_uc001qri.3_5'Flank|USP5_uc001qrh.3_5'Flank	NM_031299	NP_112589	Q99618	CDCA3_HUMAN	cell division cycle associated 3	234					cell division|mitosis	cytosol					0						AGAATGGCTCCTTCCTTTAGT	0.502												
CLSTN3	9746	broad.mit.edu	37	12	7287981	7287981	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:7287981C>T	uc001qsr.2	+	4	720	c.442C>T	c.(442-444)CGG>TGG	p.R148W	CLSTN3_uc001qss.2_Missense_Mutation_p.R160W	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	148	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1						GTTTGTGGAACGGCTGTATCG	0.582												
A2M	2	broad.mit.edu	37	12	9251308	9251308	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:9251308G>A	uc001qvk.1	-	15	1859	c.1746C>T	c.(1744-1746)CAC>CAT	p.H582H	A2M_uc009zgk.1_Silent_p.H432H	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	582					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	GCAGGTGGGCGTGTGAGGCTG	0.547												
TAS2R31	259290	broad.mit.edu	37	12	11183704	11183704	+	Silent	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:11183704A>G	uc001qzo.1	-	1	303	c.231T>C	c.(229-231)AGT>AGC	p.S77S	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176885	NP_795366	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	77	Extracellular (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity				0						TTACTTCTACACTATAAAAAG	0.408												
PRB4	5545	broad.mit.edu	37	12	11461556	11461556	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:11461556C>A	uc001qzf.1	-	3	395	c.361G>T	c.(361-363)GAA>TAA	p.E121*	PRB4_uc001qzt.2_Nonsense_Mutation_p.E121*	NM_002723	NP_002714	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	184	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.|8.		Missing (in allele S).			extracellular region				ovary(1)	1						GGTGGTCTTTCTGGCTTTCCT	0.607										HNSCC(22;0.051)		
PRB4	5545	broad.mit.edu	37	12	11461619	11461619	+	Nonsense_Mutation	SNP	C	C	A	rs1063752		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:11461619C>A	uc001qzf.1	-	3	332	c.298G>T	c.(298-300)GAA>TAA	p.E100*	PRB4_uc001qzt.2_Nonsense_Mutation_p.E100*	NM_002723	NP_002714	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	121	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.|5.		Missing (in allele M and allele S).			extracellular region				ovary(1)	1						GGTGGTCTTTCTGGCTTTCCT	0.617										HNSCC(22;0.051)		
LRP6	4040	broad.mit.edu	37	12	12339973	12339973	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:12339973C>T	uc001rah.3	-	4	870	c.728G>A	c.(727-729)AGC>AAC	p.S243N	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.S243N	NM_002336	NP_002327	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein	243	Extracellular (Potential).|Beta-propeller 1.|LDL-receptor class B 5.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12		Prostate(47;0.0865)				GGAGTGTGTGCTCCAGTCAGT	0.438												
GRIN2B	2904	broad.mit.edu	37	12	13716215	13716215	+	Silent	SNP	C	C	T	rs141730031		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:13716215C>T	uc001rbt.2	-	13	4136	c.3957G>A	c.(3955-3957)CCG>CCA	p.P1319P		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1319	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)	TTACGCTGCGCGGGGCCAGGG	0.582												
GRIN2B	2904	broad.mit.edu	37	12	13716527	13716527	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:13716527G>A	uc001rbt.2	-	13	3824	c.3645C>T	c.(3643-3645)TGC>TGT	p.C1215C		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1215	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)	GACAGCTGCGGCAGAAGTTGC	0.637												
PLBD1	79887	broad.mit.edu	37	12	14664194	14664194	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:14664194C>A	uc001rcc.1	-	8	1347	c.1186G>T	c.(1186-1188)GGA>TGA	p.G396*		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	396					lipid catabolic process	extracellular region	hydrolase activity				0						AAGAAAGTACCTTTCCGTAGA	0.408												
PIK3C2G	5288	broad.mit.edu	37	12	18435062	18435062	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:18435062A>G	uc001rdt.2	+	2	163	c.47A>G	c.(46-48)GAA>GGA	p.E16G	PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.E16G|PIK3C2G_uc010sic.1_5'UTR	NM_004570	NP_004561	O75747	P3C2G_HUMAN	phosphoinositide-3-kinase, class 2 gamma	16					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21		Hepatocellular(102;0.194)				GAATCACACGAAAAGCAGTAT	0.383												
PDE3A	5139	broad.mit.edu	37	12	20766472	20766472	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:20766472C>T	uc001reh.1	+	3	1129	c.1107C>T	c.(1105-1107)AAC>AAT	p.N369N		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	369				HGLITDLLADPSLPPNVC -> TASLPTSWQTLLFHQTCA (in Ref. 3 and 4).	lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TTCCACCAAACGTGTGCACAT	0.567												
OVCH1	341350	broad.mit.edu	37	12	29592284	29592284	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:29592284T>C	uc001rix.1	-	26	3241	c.3241A>G	c.(3241-3243)ATG>GTG	p.M1081V		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	1081					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)					catatatgcatgatatatgtg	0												
DDX11	1663	broad.mit.edu	37	12	31250882	31250882	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:31250882T>C	uc001rjt.1	+	18	2077	c.1826T>C	c.(1825-1827)GTG>GCG	p.V609A	DDX11_uc001rjr.1_Missense_Mutation_p.V609A|DDX11_uc001rjs.1_Missense_Mutation_p.V609A|DDX11_uc001rju.1_Missense_Mutation_p.V287A|DDX11_uc001rjv.1_Missense_Mutation_p.V609A|DDX11_uc001rjw.1_Missense_Mutation_p.V583A|DDX11_uc009zjn.1_RNA	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	609					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(3)	3	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TTTGCCCAAGTGGTGAAGGAA	0.587										Multiple Myeloma(12;0.14)		
CPNE8	144402	broad.mit.edu	37	12	39087578	39087578	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:39087578T>C	uc001rls.1	-	15	1108	c.1024A>G	c.(1024-1026)ATG>GTG	p.M342V	CPNE8_uc001rlr.1_Missense_Mutation_p.M1V	NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN	copine VIII	342	VWFA.									pancreas(1)	1	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				TTTAGTGCCATACCATAGGCA	0.423												
KIF21A	55605	broad.mit.edu	37	12	39695397	39695397	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:39695397C>A	uc001rly.2	-	37	4962	c.4816G>T	c.(4816-4818)GGC>TGC	p.G1606C	KIF21A_uc001rlv.2_Missense_Mutation_p.G551C|KIF21A_uc001rlw.2_Missense_Mutation_p.G876C|KIF21A_uc001rlx.2_Missense_Mutation_p.G1593C|KIF21A_uc001rlz.2_Missense_Mutation_p.G1553C|KIF21A_uc010skl.1_Missense_Mutation_p.G1569C|KIF21A_uc001rlt.2_Missense_Mutation_p.G226C|KIF21A_uc001rlu.2_Missense_Mutation_p.G226C	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1606	WD 6.				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)				TTCAAAATGCCCCCTCTGCAG	0.458												
PUS7L	83448	broad.mit.edu	37	12	44130313	44130313	+	Silent	SNP	G	G	A	rs149201016		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:44130313G>A	uc001rnq.3	-	7	2085	c.1596C>T	c.(1594-1596)CAC>CAT	p.H532H	PUS7L_uc001rnr.3_Silent_p.H532H|PUS7L_uc001rns.3_Silent_p.H532H|PUS7L_uc009zkb.2_Silent_p.H219H	NM_001098615	NP_001092085	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S.	532	TRUD.				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			pancreas(1)	1	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TGGTATATGCGTGAACATAGA	0.458												
SFRS2IP	9169	broad.mit.edu	37	12	46327972	46327972	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:46327972A>G	uc001rox.2	-	8	906	c.619T>C	c.(619-621)TAT>CAT	p.Y207H	SFRS2IP_uc001roy.1_Missense_Mutation_p.Y281H	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	207					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)		TAAGCTCTATAGGTAAAGGAA	0.318												
FAM113B	91523	broad.mit.edu	37	12	47629390	47629390	+	Missense_Mutation	SNP	C	C	T	rs148925320		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:47629390C>T	uc001rpn.2	+	4	1275	c.544C>T	c.(544-546)CGG>TGG	p.R182W	FAM113B_uc010slj.1_Missense_Mutation_p.R62W|FAM113B_uc001rpq.2_Missense_Mutation_p.R182W	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	hypothetical protein LOC91523	182							hydrolase activity			skin(3)|ovary(2)	5	Renal(347;0.138)|Lung SC(27;0.192)					GCCCAAGCTCCGGCGGCAGAA	0.597												
CCDC65	85478	broad.mit.edu	37	12	49298120	49298120	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:49298120A>G	uc001rso.2	+	1	228	c.1A>G	c.(1-3)ATG>GTG	p.M1V		NM_033124	NP_149115	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	1										ovary(1)|skin(1)	2						CCCTGCCCCCATGCCTAAGAA	0.532											OREG0021772	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NCKAP5L	57701	broad.mit.edu	37	12	50188791	50188791	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:50188791C>T	uc009zlk.2	-	8	3054	c.2852G>A	c.(2851-2853)CGG>CAG	p.R951Q	NCKAP5L_uc001rvc.3_Missense_Mutation_p.R155Q|NCKAP5L_uc001rvb.2_Missense_Mutation_p.R544Q	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	947										central_nervous_system(1)	1						GACTTCCCTCCGGAGCGGGGA	0.647												
AQP2	359	broad.mit.edu	37	12	50344854	50344854	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:50344854G>A	uc001rvn.2	+	1	331	c.241G>A	c.(241-243)GTC>ATC	p.V81I		NM_000486	NP_000477	P41181	AQP2_HUMAN	aquaporin 2	81	Cytoplasmic (Potential).				cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			ovary(2)	2						GGGCTGCCACGTCTCCGTTCT	0.662												
CSRNP2	81566	broad.mit.edu	37	12	51457853	51457853	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:51457853C>T	uc001rxu.1	-	5	1606	c.1308G>A	c.(1306-1308)ACG>ACA	p.T436T		NM_030809	NP_110436	Q9H175	CSRN2_HUMAN	TGF-beta induced apoptosis protein 12	436					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						AGCCTTCTTCCGTACCAGGCT	0.547												
DAZAP2	9802	broad.mit.edu	37	12	51634661	51634661	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:51634661C>T	uc010snd.1	+	3	323	c.139C>T	c.(139-141)CGT>TGT	p.R47C	DAZAP2_uc001ryb.2_Missense_Mutation_p.R47C|DAZAP2_uc010snc.1_Intron|DAZAP2_uc010sne.1_Intron|DAZAP2_uc010snf.1_Missense_Mutation_p.R47C	NM_001136266	NP_001129738	Q15038	DAZP2_HUMAN	DAZ associated protein 2 isoform c	47	Pro-rich.			R -> S (in Ref. 1; AAR11454).			WW domain binding				0						CTAGCTCTATCGTCCGAGCTT	0.483												
ANKRD33	341405	broad.mit.edu	37	12	52284398	52284398	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:52284398G>A	uc001rzf.3	+	5	872	c.293G>A	c.(292-294)CGG>CAG	p.R98Q	ANKRD33_uc001rzh.3_3'UTR|ANKRD33_uc001rzd.2_Missense_Mutation_p.R223Q|ANKRD33_uc001rze.2_Missense_Mutation_p.R119Q|ANKRD33_uc001rzg.3_Missense_Mutation_p.R25Q|ANKRD33_uc001rzi.3_Missense_Mutation_p.R98Q	NM_001130015	NP_001123487	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33 isoform 1	98	ANK 3.										0				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GACCCTGTTCGGGGCAAGACG	0.617												
C12orf44	60673	broad.mit.edu	37	12	52467515	52467515	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:52467515G>A	uc001rzu.3	+	3	556	c.81G>A	c.(79-81)ACG>ACA	p.T27T	C12orf44_uc009zmd.2_Silent_p.T27T	NM_021934	NP_068753	Q9BSB4	ATGA1_HUMAN	Atg13-interacting protein	27					autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding				0				BRCA - Breast invasive adenocarcinoma(357;0.0978)		TGCTGCACACGGTGCTTCTGC	0.612												
KRT3	3850	broad.mit.edu	37	12	53189822	53189822	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:53189822C>T	uc001say.2	-	1	71	c.5G>A	c.(4-6)AGC>AAC	p.S2N		NM_057088	NP_476429	P12035	K2C3_HUMAN	keratin 3	2	Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity				0						GGCTTGTCTGCTCATGGTAAG	0.547												
EIF4B	1975	broad.mit.edu	37	12	53412624	53412624	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:53412624C>T	uc001sbh.3	+	3	400	c.194C>T	c.(193-195)GCG>GTG	p.A65V	EIF4B_uc009zmp.1_RNA|EIF4B_uc010snu.1_Missense_Mutation_p.A65V|EIF4B_uc010snv.1_Missense_Mutation_p.A65V|EIF4B_uc001sbi.2_5'UTR	NM_001417	NP_001408	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	65					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(1)|kidney(1)	2						GTGTATAGGGCGCCTCCAATT	0.502												
CSAD	51380	broad.mit.edu	37	12	53564239	53564239	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:53564239G>A	uc001sby.2	-	8	741	c.615C>T	c.(613-615)ACC>ACT	p.T205T	CSAD_uc001sbw.2_Silent_p.T58T|CSAD_uc009zmt.2_5'UTR|CSAD_uc010snx.1_Silent_p.T232T|CSAD_uc001sbz.2_Silent_p.T205T|CSAD_uc009zmu.2_Silent_p.T58T|CSAD_uc001sca.3_RNA	NM_015989	NP_057073	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	205					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			ovary(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	GGACACTGTCGGTGCCAAGTC	0.572									Hereditary_Prostate_Cancer			
SP1	6667	broad.mit.edu	37	12	53776653	53776653	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:53776653G>A	uc001scw.2	+	3	1019	c.922G>A	c.(922-924)GCC>ACC	p.A308T	SP1_uc010sog.1_Missense_Mutation_p.A301T	NM_138473	NP_612482	P08047	SP1_HUMAN	Sp1 transcription factor isoform a	308	Transactivation domain B (Gln-rich).|Ser/Thr-rich.				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CATCAGTTCTGCCAGCTTGGT	0.512												
MAP3K12	7786	broad.mit.edu	37	12	53879249	53879249	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:53879249T>C	uc001sdm.1	-	6	831	c.733A>G	c.(733-735)ACC>GCC	p.T245A	MAP3K12_uc001sdn.1_Missense_Mutation_p.T278A	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	245	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)|skin(1)	5						TCGTCGTAGGTGATTAGCATG	0.493												
MAP3K12	7786	broad.mit.edu	37	12	53880257	53880257	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:53880257G>A	uc001sdm.1	-	4	594	c.496C>T	c.(496-498)CGA>TGA	p.R166*	MAP3K12_uc001sdn.1_Nonsense_Mutation_p.R199*	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	166	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)|skin(1)	5						TTCAGCTTTCGCAAGTGCTTG	0.592												
PDE1B	5153	broad.mit.edu	37	12	54966477	54966477	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:54966477C>T	uc001sgd.1	+	7	853	c.687C>T	c.(685-687)GCC>GCT	p.A229A	PDE1B_uc010soz.1_Silent_p.A92A|PDE1B_uc010spa.1_Silent_p.A188A|PDE1B_uc001sgf.2_Silent_p.A92A|PDE1B_uc001sge.2_Silent_p.A209A|PDE1B_uc009znq.2_Silent_p.A25A	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	phosphodiesterase 1B isoform 1	229	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						TCCACGCAGCCGATGTTACCC	0.517												
KIAA0748	9840	broad.mit.edu	37	12	55360195	55360195	+	Silent	SNP	G	G	A	rs149630377	by1000genomes	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:55360195G>A	uc001sgn.3	-	6	434	c.324C>T	c.(322-324)GCC>GCT	p.A108A	KIAA0748_uc001sgl.3_5'UTR|KIAA0748_uc001sgm.3_5'UTR|KIAA0748_uc010spb.1_5'UTR|KIAA0748_uc010spc.1_5'UTR|KIAA0748_uc010spd.1_Silent_p.A108A|KIAA0748_uc001sgo.3_RNA	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	108										ovary(1)|central_nervous_system(1)	2						TGCCATTGGCGGCCAGTAGTG	0.323												
OR6C1	390321	broad.mit.edu	37	12	55714989	55714989	+	Silent	SNP	G	G	A	rs144216844	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:55714989G>A	uc010spi.1	+	1	606	c.606G>A	c.(604-606)GCG>GCA	p.A202A		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C,	202	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2						CTTGTGCTGCGTTTACTCTAA	0.353												
ITGA7	3679	broad.mit.edu	37	12	56091513	56091513	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:56091513C>T	uc001shh.2	-	9	1607	c.1387G>A	c.(1387-1389)GTG>ATG	p.V463M	ITGA7_uc001shg.2_Missense_Mutation_p.V459M|ITGA7_uc010sps.1_Missense_Mutation_p.V366M|ITGA7_uc009znw.2_5'Flank|ITGA7_uc009znx.2_Missense_Mutation_p.V346M	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	503	FG-GAP 7.|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						AGGGAGCCCACCAGCAGGTCA	0.617												
DNAJC14	85406	broad.mit.edu	37	12	56215796	56215796	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:56215796G>A	uc001shx.1	-	7	2278	c.2074C>T	c.(2074-2076)CGG>TGG	p.R692W	DNAJC14_uc001shu.1_Missense_Mutation_p.R692W|DNAJC14_uc009zob.1_Missense_Mutation_p.R692W	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	dopamine receptor interacting protein	692					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			ovary(3)|large_intestine(1)	4						TTCTTCCGCCGCTTAGGTTTG	0.552												
APOF	319	broad.mit.edu	37	12	56755798	56755798	+	Silent	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:56755798G>T	uc001sle.1	-	2	246	c.192C>A	c.(190-192)TCC>TCA	p.S64S		NM_001638	NP_001629	Q13790	APOF_HUMAN	apolipoprotein F precursor	64					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding				0						GAAATTGGCAGGACAAGGGGT	0.527												
LRP1	4035	broad.mit.edu	37	12	57567081	57567081	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:57567081G>T	uc001snd.2	+	21	3760	c.3294G>T	c.(3292-3294)GAG>GAT	p.E1098D		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1098	Extracellular (Potential).|LDL-receptor class A 8.				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)	AGAGCTGTGAGGGAGTGACCC	0.592											OREG0021936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KIF5A	3798	broad.mit.edu	37	12	57962772	57962772	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:57962772C>T	uc001sor.1	+	9	949	c.741C>T	c.(739-741)GCC>GCT	p.A247A	KIF5A_uc010srr.1_Silent_p.A158A	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	247	Kinesin-motor.|Microtubule-binding.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)|skin(1)	3						CAGAGGGAGCCGTGCTGGACG	0.562												
GEFT	115557	broad.mit.edu	37	12	58008142	58008142	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:58008142C>T	uc001spb.2	+	7	1145	c.685C>T	c.(685-687)CTG>TTG	p.L229L	GEFT_uc009zpy.2_Silent_p.L268L|GEFT_uc001soz.1_Silent_p.L103L|GEFT_uc001spa.2_Silent_p.L123L|uc001spc.2_Intron|GEFT_uc001spd.2_5'UTR	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN	RhoA/RAC/CDC42 exchange factor isoform 1	229	DH.				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity				0	Melanoma(17;0.122)					ACAACGGTGTCTGAAAGATCC	0.552												
METTL1	4234	broad.mit.edu	37	12	58163384	58163384	+	Silent	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:58163384G>T	uc010ssd.1	-	4	585	c.537C>A	c.(535-537)ACC>ACA	p.T179T	CYP27B1_uc001spz.1_5'Flank|CYP27B1_uc001sqa.1_5'Flank|METTL1_uc009zqc.2_Missense_Mutation_p.P118T|FAM119B_uc001sqf.2_5'Flank|FAM119B_uc001sqg.2_5'Flank|FAM119B_uc009zqd.2_5'Flank	NM_005371	NP_005362	Q9UBP6	TRMB_HUMAN	methyltransferase-like protein 1 isoform a	179						cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding				0	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.211)			CTGCTAGCAGGGTGGGACTGA	0.527												
AVIL	10677	broad.mit.edu	37	12	58201166	58201166	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:58201166G>A	uc001sqj.1	-	12	1468	c.1439C>T	c.(1438-1440)ACG>ATG	p.T480M	AVIL_uc009zqe.1_Missense_Mutation_p.T473M|AVIL_uc001sqk.1_Missense_Mutation_p.T58M|AVIL_uc001sql.3_Missense_Mutation_p.T457M	NM_006576	NP_006567	O75366	AVIL_HUMAN	advillin	480	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			central_nervous_system(1)	1	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GCGTGGCTCCGTTCCCATCCT	0.537												
SLC16A7	9194	broad.mit.edu	37	12	60168466	60168466	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:60168466C>T	uc001sqs.2	+	5	689	c.390C>T	c.(388-390)CCC>CCT	p.P130P	SLC16A7_uc001sqt.2_Silent_p.P130P|SLC16A7_uc001squ.2_Silent_p.P130P|SLC16A7_uc009zqi.2_Silent_p.P31P|SLC16A7_uc010ssi.1_Silent_p.P31P	NM_004731	NP_004722	O60669	MOT2_HUMAN	solute carrier family 16, member 7	130	Helical; (Potential).					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			ovary(1)	1				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	ACCTGCAACCCGCCTTAACCA	0.413												
LEMD3	23592	broad.mit.edu	37	12	65564319	65564319	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:65564319G>T	uc001ssl.1	+	1	949	c.943G>T	c.(943-945)GGA>TGA	p.G315*	LEMD3_uc009zqo.1_Nonsense_Mutation_p.G315*	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	315	Poly-Gly.				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)		GGGAGGGGGAGGACTCGCGAT	0.657												
IRAK3	11213	broad.mit.edu	37	12	66638373	66638373	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:66638373G>A	uc001sth.2	+	9	1097	c.995G>A	c.(994-996)AGC>AAC	p.S332N	IRAK3_uc010ssy.1_Missense_Mutation_p.S271N	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	332	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8				GBM - Glioblastoma multiforme(28;0.0203)		AATATGACCAGCAGCAGCAGT	0.428												
HELB	92797	broad.mit.edu	37	12	66704320	66704320	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:66704320G>T	uc001sti.2	+	4	1640	c.1612G>T	c.(1612-1614)GCA>TCA	p.A538S	HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	538					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TTTGCTCACAGCACCTACAGG	0.413												
GRIP1	23426	broad.mit.edu	37	12	66742824	66742824	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:66742824G>A	uc001stk.2	-	24	3447	c.3206C>T	c.(3205-3207)ACA>ATA	p.T1069I	GRIP1_uc001stj.2_Missense_Mutation_p.T836I	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	1121					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GGGTTCTCGTGTCTCCAAATT	0.408												
DYRK2	8445	broad.mit.edu	37	12	68051937	68051937	+	Missense_Mutation	SNP	C	C	T	rs140246773		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:68051937C>T	uc001str.3	+	3	1652	c.1250C>T	c.(1249-1251)ACG>ATG	p.T417M	DYRK2_uc001sts.3_Missense_Mutation_p.T344M	NM_006482	NP_006473	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	417	Protein kinase.				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)		GAGCTCCTGACGGGTTACCCC	0.552												
TPH2	121278	broad.mit.edu	37	12	72372756	72372756	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:72372756C>T	uc009zrw.1	+	7	971	c.830C>T	c.(829-831)CCG>CTG	p.P277L	TPH2_uc001swy.2_Missense_Mutation_p.P187L	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	277					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			ovary(2)|central_nervous_system(1)|skin(1)	4					L-Tryptophan(DB00150)	ACGGTGAGGCCGGTGGCTGGA	0.522												
E2F7	144455	broad.mit.edu	37	12	77444495	77444495	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:77444495G>A	uc001sym.3	-	4	635	c.399C>T	c.(397-399)GAC>GAT	p.D133D	E2F7_uc001syn.2_Silent_p.D133D	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	133					cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						TTTCAAATTCGTCCACAGCAC	0.463												
ACSS3	79611	broad.mit.edu	37	12	81503375	81503375	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:81503375C>T	uc001szl.1	+	2	439	c.348C>T	c.(346-348)GCC>GCT	p.A116A	ACSS3_uc001szm.1_Silent_p.A115A	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	116						mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						GTTACAATGCCGTTGATCGTC	0.328												
C12orf26	84190	broad.mit.edu	37	12	82752576	82752576	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:82752576C>T	uc001szq.2	+	1	253	c.232C>T	c.(232-234)CCC>TCC	p.P78S	CCDC59_uc001szp.3_5'Flank	NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN	hypothetical protein LOC84190	78											0						AGAGACGCGCCCCCTAGTGGA	0.687											OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LRRIQ1	84125	broad.mit.edu	37	12	85450750	85450750	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:85450750T>A	uc001tac.2	+	8	2290	c.2179T>A	c.(2179-2181)TGC>AGC	p.C727S	LRRIQ1_uc001tab.1_Missense_Mutation_p.C727S|LRRIQ1_uc001taa.1_Missense_Mutation_p.C702S	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	727										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		TAGCATGACCTGCTGTGTATC	0.353												
ALX1	8092	broad.mit.edu	37	12	85695137	85695137	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:85695137G>A	uc001tae.3	+	4	869	c.865G>A	c.(865-867)GCA>ACA	p.A289T		NM_006982	NP_008913	Q15699	ALX1_HUMAN	cartilage paired-class homeoprotein 1	289					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(134;0.134)		TCTTACTGGGGCAACCAATGG	0.478												
LTA4H	4048	broad.mit.edu	37	12	96412600	96412600	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:96412600A>T	uc001ten.1	-	8	861	c.793T>A	c.(793-795)TCC>ACC	p.S265T	LTA4H_uc010suy.1_Missense_Mutation_p.S227T|LTA4H_uc010suz.1_Missense_Mutation_p.S227T|LTA4H_uc010sva.1_RNA	NM_000895	NP_000886	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	265					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)	1						TAAGGGAAGGATGGTGGCAGG	0.393												
UTP20	27340	broad.mit.edu	37	12	101739426	101739426	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:101739426A>G	uc001tia.1	+	37	4856	c.4700A>G	c.(4699-4701)TAC>TGC	p.Y1567C		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	1567					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						CTTACTCATTACCATGACCCA	0.358												
GNPTAB	79158	broad.mit.edu	37	12	102164318	102164318	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:102164318C>T	uc001tit.2	-	9	1158	c.979G>A	c.(979-981)GAA>AAA	p.E327K	GNPTAB_uc001tiu.1_Missense_Mutation_p.E327K	NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	327					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			ovary(1)|skin(1)	2						CTCAGTTCTTCGTTATCTTCA	0.448												
ASCL1	429	broad.mit.edu	37	12	103352324	103352324	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:103352324G>A	uc001tjr.3	+	1	873	c.302G>A	c.(301-303)CGC>CAC	p.R101H		NM_004316	NP_004307	P50553	ASCL1_HUMAN	achaete-scute complex homolog 1	101					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						CGCTGCAAACGCCGGCTCAAC	0.697												
C12orf42	374470	broad.mit.edu	37	12	103696040	103696040	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:103696040G>A	uc001tjt.2	-	6	1017	c.929C>T	c.(928-930)GCG>GTG	p.A310V	C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.A310V|C12orf42_uc001tju.2_Missense_Mutation_p.A215V	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	hypothetical protein LOC374470	310										ovary(1)|central_nervous_system(1)	2						AGGAAGGGGCGCTCCTGCCAG	0.642												
STAB2	55576	broad.mit.edu	37	12	104078853	104078853	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:104078853C>T	uc001tjw.2	+	27	3174	c.2988C>T	c.(2986-2988)AAC>AAT	p.N996N		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	996	Extracellular (Potential).|FAS1 3.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						GCTATGGAAACGCAGCAGTGG	0.413												
RIC8B	55188	broad.mit.edu	37	12	107208552	107208552	+	Missense_Mutation	SNP	C	C	T	rs141049479		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:107208552C>T	uc001tlx.2	+	3	336	c.211C>T	c.(211-213)CGC>TGC	p.R71C	RIC8B_uc001tlw.2_Missense_Mutation_p.R71C|RIC8B_uc001tly.2_Missense_Mutation_p.R31C|RIC8B_uc001tlz.2_RNA	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN	resistance to inhibitors of cholinesterase 8	71					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			ovary(1)	1						GGAAGTACTCCGCATTCTCTC	0.403												
DAO	1610	broad.mit.edu	37	12	109278931	109278931	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:109278931G>A	uc001tnr.3	+	2	302	c.149G>A	c.(148-150)GGC>GAC	p.G50D	DAO_uc001tnq.3_Missense_Mutation_p.G50D|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA	NM_001917	NP_001908	P14920	OXDA_HUMAN	D-amino-acid oxidase	50	FAD.				glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			ovary(1)|skin(1)	2						GTGGCTGCCGGCCTCTGGCAG	0.612												
FOXN4	121643	broad.mit.edu	37	12	109723308	109723308	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:109723308G>A	uc001toe.3	-	8	807	c.702C>T	c.(700-702)CCC>CCT	p.P234P	FOXN4_uc009zvg.2_Silent_p.P31P|FOXN4_uc001tof.3_Silent_p.P54P	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN	forkhead box N4	234	Fork-head.				axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(1)|lung(1)	2						TCCACCCGTCGGGGGCCGTCT	0.607												
MYL2	4633	broad.mit.edu	37	12	111356964	111356964	+	Missense_Mutation	SNP	C	C	T	rs104894363		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:111356964C>T	uc001try.3	-	2	108	c.37G>A	c.(37-39)GCC>ACC	p.A13T	MYL2_uc001trx.3_5'UTR	NM_000432	NP_000423	P10916	MLRV_HUMAN	slow cardiac myosin regulatory light chain 2	13			A -> T (in MVC2).		cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			ovary(1)	1						TTGGAGTTGGCGCCCCCGGCT	0.507												
CUX2	23316	broad.mit.edu	37	12	111785560	111785560	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:111785560A>G	uc001tsa.1	+	22	4045	c.3892A>G	c.(3892-3894)ATC>GTC	p.I1298V		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	1298						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						CCAAGTGAGGATCAAGCAGGA	0.607												
FAM109A	144717	broad.mit.edu	37	12	111800988	111800988	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:111800988G>A	uc001tsd.3	-	3	635	c.244C>T	c.(244-246)CGC>TGC	p.R82C	FAM109A_uc009zvu.2_Silent_p.C62C|FAM109A_uc001tsc.2_Missense_Mutation_p.R105C	NM_144671	NP_653272	Q8N4B1	SESQ1_HUMAN	hypothetical protein LOC144717	82	PH.				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity				0						CCCGCAAAGCGCACAGCGAAG	0.682												
NAA25	80018	broad.mit.edu	37	12	112485518	112485518	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:112485518G>A	uc001ttm.2	-	17	1977	c.1957C>T	c.(1957-1959)CGA>TGA	p.R653*	NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Nonsense_Mutation_p.R625*|NAA25_uc009zwa.1_Nonsense_Mutation_p.R653*	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	653						cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						CTGTTGTCTCGCAAATCTTCC	0.353												
DTX1	1840	broad.mit.edu	37	12	113515382	113515382	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:113515382C>T	uc001tuk.1	+	2	749	c.413C>T	c.(412-414)CCG>CTG	p.P138L		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	138	WWE 2.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4						AAGCAGCACCCGTGGCTCGAC	0.502												
KSR2	283455	broad.mit.edu	37	12	118199032	118199032	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:118199032G>A	uc001two.2	-	4	738	c.683C>T	c.(682-684)GCG>GTG	p.A228V		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	257	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGTGCGGACCGCGTGCCGCTG	0.736												
CIT	11113	broad.mit.edu	37	12	120172994	120172994	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:120172994G>A	uc001txi.1	-	24	3054	c.3001C>T	c.(3001-3003)CGA>TGA	p.R1001*	CIT_uc001txh.1_Nonsense_Mutation_p.R535*|CIT_uc001txj.1_Nonsense_Mutation_p.R1043*	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	1001	Potential.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGCATCTCTCGTTCCGTGATC	0.512												
GCN1L1	10985	broad.mit.edu	37	12	120621397	120621397	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:120621397C>T	uc001txo.2	-	5	414	c.401G>A	c.(400-402)CGA>CAA	p.R134Q		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	134					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCTCCTTGTCGCTTGGCTCT	0.542												
CLIP1	6249	broad.mit.edu	37	12	122825691	122825691	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:122825691G>A	uc001ucg.1	-	10	2166	c.2060C>T	c.(2059-2061)GCC>GTC	p.A687V	CLIP1_uc001uch.1_Missense_Mutation_p.A676V|CLIP1_uc001uci.1_Missense_Mutation_p.A641V|CLIP1_uc001ucj.1_Missense_Mutation_p.A377V|CLIP1_uc009zxo.1_Missense_Mutation_p.A243V	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	687	Potential.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTTAGCATGGGCAGCCCGTTC	0.393												
HIP1R	9026	broad.mit.edu	37	12	123343608	123343608	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:123343608G>A	uc001udj.1	+	22	2218	c.2159G>A	c.(2158-2160)CGC>CAC	p.R720H	HIP1R_uc001udk.1_5'UTR	NM_003959	NP_003950	O75146	HIP1R_HUMAN	huntingtin interacting protein-1-related	720					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CTCACCCCAGGCCTCATAGAC	0.667												
PITPNM2	57605	broad.mit.edu	37	12	123485614	123485614	+	Silent	SNP	C	C	T	rs145437742	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:123485614C>T	uc001uej.1	-	8	1279	c.1140G>A	c.(1138-1140)CCG>CCA	p.P380P	PITPNM2_uc001uek.1_Silent_p.P380P|PITPNM2_uc009zxu.1_Silent_p.P380P	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein,	380					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)		GTGTGTCTTCCGGCTCTGGGC	0.597												
MPHOSPH9	10198	broad.mit.edu	37	12	123651237	123651237	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:123651237G>A	uc001uel.2	-	13	2207	c.2100C>T	c.(2098-2100)AAC>AAT	p.N700N	MPHOSPH9_uc010tal.1_Silent_p.N154N|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Silent_p.N154N	NM_022782	NP_073619	Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	700					M phase of mitotic cell cycle	centriole|Golgi membrane					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GGTTATCCACGTTACTGTCCT	0.458												
ATP6V0A2	23545	broad.mit.edu	37	12	124229435	124229435	+	Missense_Mutation	SNP	C	C	A	rs142454880	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:124229435C>A	uc001ufr.2	+	13	1769	c.1521C>A	c.(1519-1521)AGC>AGA	p.S507R		NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	507	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		ACAGTGACAGCGTCGTTAGAC	0.527												
ATP6V0A2	23545	broad.mit.edu	37	12	124235765	124235765	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:124235765G>A	uc001ufr.2	+	16	2292	c.2044G>A	c.(2044-2046)GGG>AGG	p.G682R		NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	682	Cytoplasmic (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TAGTTGCTTCGGGGTGAACCG	0.502												
DNAH10	196385	broad.mit.edu	37	12	124411254	124411254	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:124411254T>C	uc001uft.3	+	68	11663	c.11638T>C	c.(11638-11640)TTT>CTT	p.F3880L	DNAH10_uc001ufu.3_5'UTR	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3880	AAA 6 (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)		GCCCATTGTGTTTATCCTGAG	0.468												
SCARB1	949	broad.mit.edu	37	12	125298818	125298818	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:125298818A>G	uc001ugo.3	-	4	813	c.560T>C	c.(559-561)CTT>CCT	p.L187P	SCARB1_uc001ugn.3_Missense_Mutation_p.L187P|SCARB1_uc001ugm.3_Missense_Mutation_p.L187P|SCARB1_uc010tbd.1_Missense_Mutation_p.L187P|SCARB1_uc010tbe.1_Missense_Mutation_p.L146P|SCARB1_uc001ugp.3_Missense_Mutation_p.L187P	NM_005505	NP_005496	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1 isoform 1	187	Extracellular (Potential).				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			kidney(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	GAGATTCACAAGGGGGTCCTT	0.517												
FZD10	11211	broad.mit.edu	37	12	130648820	130648820	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:130648820G>A	uc001uii.2	+	1	1789	c.1333G>A	c.(1333-1335)GGG>AGG	p.G445R	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	445	Helical; Name=6; (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)		GGTGCGTATCGGGCTCTTCTC	0.587												
GPR133	283383	broad.mit.edu	37	12	131488738	131488738	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:131488738C>T	uc001uit.3	+	11	1711	c.1152C>T	c.(1150-1152)TCC>TCT	p.S384S	GPR133_uc010tbm.1_Silent_p.S416S	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	384	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(5)|ovary(3)|skin(2)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CAGAGTTTTCCGTGGCCAAAA	0.577												
EP400	57634	broad.mit.edu	37	12	132539679	132539679	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:132539679G>A	uc001ujn.2	+	44	7845	c.7810G>A	c.(7810-7812)GCA>ACA	p.A2604T	EP400_uc001ujl.2_Missense_Mutation_p.A2603T|EP400_uc001ujm.2_Missense_Mutation_p.A2523T	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2640	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GAACACCATCGCAGGGGTCCC	0.602												
MPHOSPH8	54737	broad.mit.edu	37	13	20237231	20237231	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:20237231G>A	uc001umh.2	+	9	1993	c.1984G>A	c.(1984-1986)GTC>ATC	p.V662I	MPHOSPH8_uc001umg.2_Missense_Mutation_p.V662I	NM_017520	NP_059990	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	662	ANK 2.				cell cycle	cytoplasm|nucleus					0		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		TTTTGTAAATGTCCAGCAAAG	0.398												
ZMYM5	9205	broad.mit.edu	37	13	20426142	20426142	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:20426142A>T	uc010tcn.1	-	3	444	c.179T>A	c.(178-180)GTT>GAT	p.V60D	ZMYM5_uc001umm.1_Translation_Start_Site|ZMYM5_uc001umn.2_Missense_Mutation_p.V60D|ZMYM5_uc001umo.2_Missense_Mutation_p.V60D	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	zinc finger protein 237 isoform 3	60						nucleus	zinc ion binding				0		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		AATAAACACAAcatcatcatc	0.338												
ZMYM2	7750	broad.mit.edu	37	13	20608488	20608488	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:20608488A>C	uc001umr.2	+	12	2361	c.2063A>C	c.(2062-2064)AAG>ACG	p.K688T	ZMYM2_uc001ums.2_Missense_Mutation_p.K688T|ZMYM2_uc001umt.2_Missense_Mutation_p.K688T|ZMYM2_uc010tco.1_RNA|ZMYM2_uc001umv.2_Missense_Mutation_p.K68T|ZMYM2_uc001umw.2_Missense_Mutation_p.K141T	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	688	MYM-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			lung(3)|ovary(2)|prostate(1)	6		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CAAGAGGAGAAGACTCTTCAT	0.348												
XPO4	64328	broad.mit.edu	37	13	21429838	21429838	+	Silent	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:21429838T>C	uc001unq.3	-	4	420	c.384A>G	c.(382-384)TTA>TTG	p.L128L	XPO4_uc010tcr.1_Silent_p.L54L	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	128					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TTGATTTATCTAATGATCCTC	0.323												
LATS2	26524	broad.mit.edu	37	13	21557370	21557370	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:21557370G>A	uc009zzs.2	-	5	2840	c.2475C>T	c.(2473-2475)TAC>TAT	p.Y825Y	LATS2_uc001unr.3_Silent_p.Y825Y	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	825	Protein kinase.				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)		TACCTTTCTGGTAATATTTGG	0.423												
LATS2	26524	broad.mit.edu	37	13	21557772	21557772	+	Silent	SNP	G	G	A	rs146555029	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:21557772G>A	uc009zzs.2	-	5	2438	c.2073C>T	c.(2071-2073)CAC>CAT	p.H691H	LATS2_uc001unr.3_Silent_p.H691H	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	LATS, large tumor suppressor, homolog 2	691	Protein kinase.|ATP (By similarity).				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)		CGTACAGGGCGTGAGTGTCCA	0.537												
FGF9	2254	broad.mit.edu	37	13	22275388	22275388	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:22275388G>A	uc001uog.2	+	3	1278	c.441G>A	c.(439-441)ACG>ACA	p.T147T		NM_002010	NP_002001	P31371	FGF9_HUMAN	fibroblast growth factor 9 precursor	147					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding				0		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		GGTATAATACGTACTCATCAA	0.348												
GPR12	2835	broad.mit.edu	37	13	27333685	27333685	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:27333685C>T	uc010aal.2	-	2	502	c.280G>A	c.(280-282)GGC>AGC	p.G94S	GPR12_uc010tdl.1_Intron	NM_005288	NP_005279	P47775	GPR12_HUMAN	G protein-coupled receptor 12	94	Helical; Name=2; (Potential).					integral to plasma membrane					0	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		AGTCCAATGCCGGCCAGCAGG	0.532												
GSX1	219409	broad.mit.edu	37	13	28367781	28367781	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:28367781G>A	uc001urr.1	+	2	539	c.491G>A	c.(490-492)CGC>CAC	p.R164H		NM_145657	NP_663632	Q9H4S2	GSX1_HUMAN	GS homeobox 1	164	Homeobox.				positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		GAGCTGGAGCGCGAGTTCGCT	0.567												
B3GALTL	145173	broad.mit.edu	37	13	31897940	31897940	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:31897940T>C	uc010aaz.2	+	14	1347	c.1237T>C	c.(1237-1239)TGC>CGC	p.C413R	B3GALTL_uc001utn.3_RNA|B3GALTL_uc001uto.3_Missense_Mutation_p.C18R	NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	413	Lumenal (Potential).				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)	2		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		TAAATGTCGATGCTACAGCAA	0.517												
DCLK1	9201	broad.mit.edu	37	13	36699914	36699914	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:36699914C>A	uc001uvf.2	-	2	594	c.361G>T	c.(361-363)GAC>TAC	p.D121Y		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	121	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ACCAGTTGGTCCAGGCTGGAA	0.527												
DGKH	160851	broad.mit.edu	37	13	42784857	42784857	+	Silent	SNP	G	G	A	rs142298264		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:42784857G>A	uc001uyl.1	+	24	2991	c.2970G>A	c.(2968-2970)TCG>TCA	p.S990S	DGKH_uc010tfh.1_Silent_p.S990S|DGKH_uc001uym.1_Silent_p.S990S|DGKH_uc010tfi.1_Silent_p.S745S|DGKH_uc010tfj.1_Silent_p.S845S|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Silent_p.S845S|DGKH_uc001uyp.2_RNA	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	990					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(2)	2		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AAGAGGTGTCGCAGATGCAGC	0.493												
AKAP11	11215	broad.mit.edu	37	13	42874000	42874000	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:42874000T>C	uc001uys.1	+	8	1293	c.1118T>C	c.(1117-1119)CTG>CCG	p.L373P		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	A-kinase anchor protein 11	373					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GAGACTTGCCTGTTTAACAAA	0.368												
SIAH3	283514	broad.mit.edu	37	13	46425658	46425658	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:46425658C>T	uc001vap.2	-	1	189	c.107G>A	c.(106-108)TGT>TAT	p.C36Y		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	seven in absentia homolog 3	36					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			ovary(1)|skin(1)	2						GTTGACGACACAGACAAGTTG	0.522												
MLNR	2862	broad.mit.edu	37	13	49795007	49795007	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:49795007C>T	uc010tgj.1	+	1	534	c.534C>T	c.(532-534)GGC>GGT	p.G178G		NM_001507	NP_001498	O43193	MTLR_HUMAN	motilin receptor	178	Helical; Name=4; (Potential).				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity				0		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		TCCTGGTGGGCGTCGAGCAGG	0.726												
RCBTB1	55213	broad.mit.edu	37	13	50115828	50115828	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:50115828C>T	uc001vde.1	-	11	1569	c.1308G>A	c.(1306-1308)CCG>CCA	p.P436P		NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and	436	BTB 1.				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(1)	1		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		CATCTTCTGGCGGCAGGTCGA	0.453												
CKAP2	26586	broad.mit.edu	37	13	53049228	53049228	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:53049228C>T	uc001vgv.2	+	9	2201	c.2004C>T	c.(2002-2004)CGC>CGT	p.R668R	CKAP2_uc001vgu.2_Silent_p.R667R|CKAP2_uc010tha.1_Silent_p.R619R	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2 isoform 2	668					apoptosis|cell cycle	centrosome|microtubule|spindle pole				ovary(1)|skin(1)	2		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		TTGTATGCCGCCCTAATGCAG	0.408												
PCDH17	27253	broad.mit.edu	37	13	58208617	58208617	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:58208617G>A	uc001vhq.1	+	1	2829	c.1937G>A	c.(1936-1938)CGC>CAC	p.R646H	PCDH17_uc010aec.1_Missense_Mutation_p.R646H	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	646	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGCGAGATCCGCACGCTGCAC	0.647												
KLF12	11278	broad.mit.edu	37	13	74420073	74420073	+	Silent	SNP	G	G	A	rs150481048	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:74420073G>A	uc001vjf.2	-	4	783	c.561C>T	c.(559-561)CCC>CCT	p.P187P	KLF12_uc010aeq.2_Silent_p.P187P|KLF12_uc001vjg.3_Silent_p.P187P	NM_007249	NP_009180	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	187					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		GTACCACCACGGGGATGCGGT	0.507												
MYCBP2	23077	broad.mit.edu	37	13	77720321	77720321	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:77720321C>T	uc001vkf.2	-	49	7140	c.7049G>A	c.(7048-7050)CGT>CAT	p.R2350H	MYCBP2_uc010aev.2_Missense_Mutation_p.R1754H	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	2350	Filamin.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGATGCAAAACGTAGTTCTTC	0.323												
SLITRK5	26050	broad.mit.edu	37	13	88327910	88327910	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:88327910C>T	uc001vln.2	+	2	486	c.267C>T	c.(265-267)TCC>TCT	p.S89S	SLITRK5_uc010tic.1_Intron	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	89	LRR 1.|Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TCTTGTTGTCCGGAAACCTTT	0.458												
GPC5	2262	broad.mit.edu	37	13	92346050	92346050	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:92346050T>C	uc010tif.1	+	3	1301	c.935T>C	c.(934-936)ATT>ACT	p.I312T		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	312						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ACATACGACATTGGACACGTG	0.488												
GPC6	10082	broad.mit.edu	37	13	93879765	93879765	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:93879765T>C	uc001vlt.2	+	1	688	c.56T>C	c.(55-57)CTC>CCC	p.L19P	GPC6_uc010tig.1_Missense_Mutation_p.L19P	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	glypican 6 precursor	19						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				CTGCTCTCCCTCCCCGCCGGG	0.642											OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
HS6ST3	266722	broad.mit.edu	37	13	97485156	97485156	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:97485156T>C	uc001vmw.2	+	2	1144	c.1120T>C	c.(1120-1122)TCC>CCC	p.S374P		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	374	Lumenal (Potential).					integral to membrane	sulfotransferase activity			ovary(1)|skin(1)	2	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					CAAGTTCATCTCCCCCTTCAC	0.493												
RAP2A	5911	broad.mit.edu	37	13	98086825	98086825	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:98086825C>A	uc001vnd.2	+	1	351	c.101C>A	c.(100-102)CCC>CAC	p.P34H		NM_021033	NP_066361	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family precursor	34	Effector region (Probable).				actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding			central_nervous_system(1)	1	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			AAATACGACCCCACCATCGAG	0.622												
TM9SF2	9375	broad.mit.edu	37	13	100191700	100191700	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:100191700C>A	uc001voj.1	+	7	850	c.717C>A	c.(715-717)AGC>AGA	p.S239R	TM9SF2_uc010afz.1_Intron	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2 precursor	239	Lumenal (Potential).				transport	endosome membrane|integral to plasma membrane				ovary(1)	1	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					CTTCCCACAGCTTCAAACATA	0.383												
NALCN	259232	broad.mit.edu	37	13	102029117	102029117	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:102029117C>T	uc001vox.1	-	6	767	c.578G>A	c.(577-579)GGA>GAA	p.G193E	NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.G193E|NALCN_uc001vpa.2_Missense_Mutation_p.G193E	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	193	Helical; Name=S5 of repeat I; (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCTAAAATTCCATAAAGAAG	0.323												
NALCN	259232	broad.mit.edu	37	13	102047697	102047697	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:102047697C>T	uc001vox.1	-	3	317	c.128G>A	c.(127-129)CGC>CAC	p.R43H	NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.R43H|NALCN_uc001vpa.2_Missense_Mutation_p.R43H	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	43	Helical; Name=S1 of repeat I; (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGCACAGATGCGCAGCAAAGA	0.433												
ERCC5	2073	broad.mit.edu	37	13	103528225	103528225	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:103528225G>A	uc001vpw.2	+	15	3976	c.3533G>A	c.(3532-3534)CGT>CAT	p.R1178H		NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	1178					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AAACTAAGACGTGCGAGGGGA	0.398			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum			
COL4A1	1282	broad.mit.edu	37	13	110839513	110839513	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:110839513G>A	uc001vqw.3	-	25	1822	c.1700C>T	c.(1699-1701)CCG>CTG	p.P567L	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	567	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)			AGGAAGACCCGGATGGCCATC	0.517												
CARKD	55739	broad.mit.edu	37	13	111289536	111289536	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:111289536C>T	uc001vrb.2	+	9	847	c.833C>T	c.(832-834)TCG>TTG	p.S278L	CARKD_uc010tjj.1_Missense_Mutation_p.S260L|CARKD_uc001vqz.2_RNA|CARKD_uc001vra.2_RNA|CARKD_uc010tjk.1_Missense_Mutation_p.S168L|CARKD_uc010tjl.1_Missense_Mutation_p.S147L|CARKD_uc001vrc.2_Missense_Mutation_p.S278L			Q8IW45	CARKD_HUMAN	RecName: Full=Carbohydrate kinase domain-containing protein; Flags: Precursor;	278	YjeF C-terminal.									skin(1)	1						GACCTCCTGTCGGGCTCCCTG	0.582												
MCF2L	23263	broad.mit.edu	37	13	113730324	113730324	+	Silent	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:113730324A>G	uc001vsu.2	+	12	1546	c.1524A>G	c.(1522-1524)CAA>CAG	p.Q508Q	MCF2L_uc001vsq.2_Silent_p.Q508Q|MCF2L_uc010tjr.1_Silent_p.Q451Q|MCF2L_uc001vsr.2_Silent_p.Q455Q|MCF2L_uc001vss.3_Silent_p.Q449Q|MCF2L_uc010tjs.1_Silent_p.Q449Q|MCF2L_uc001vst.1_Silent_p.Q413Q	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	481					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TGGCCTCACAACCTGTGGACA	0.572												
F10	2159	broad.mit.edu	37	13	113793763	113793763	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:113793763G>A	uc001vsx.2	+	4	406	c.349G>A	c.(349-351)GAA>AAA	p.E117K	F10_uc010agq.1_RNA|F10_uc001vsy.2_Missense_Mutation_p.E117K|F10_uc001vsz.2_Missense_Mutation_p.E117K	NM_000504	NP_000495	P00742	FA10_HUMAN	coagulation factor X preproprotein	117	EGF-like 1; calcium-binding (Potential).				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			pancreas(1)	1	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAAGGATTCGAAGGCAAAAA	0.512												
LAMP1	3916	broad.mit.edu	37	13	113973833	113973833	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:113973833G>A	uc001vtm.1	+	5	893	c.612G>A	c.(610-612)GCG>GCA	p.A204A	LAMP1_uc010tka.1_Silent_p.A151A	NM_005561	NP_005552	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	204	Hinge.|Lumenal (Potential).					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				central_nervous_system(2)	2	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			CGCCCCCTGCGCCACCCAGCC	0.637												
OR4K15	81127	broad.mit.edu	37	14	20444274	20444274	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:20444274C>T	uc010tkx.1	+	1	597	c.597C>T	c.(595-597)GAC>GAT	p.D199D		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K,	199	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATAAGGTAGACAGTTTTTTCT	0.423												
OR11G2	390439	broad.mit.edu	37	14	20665777	20665777	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:20665777G>A	uc010tlb.1	+	1	283	c.283G>A	c.(283-285)GCC>ACC	p.A95T		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G,	95	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GAGACTCCACGCCCCCATGTA	0.527												
TTC5	91875	broad.mit.edu	37	14	20763608	20763608	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:20763608C>T	uc001vwt.2	-	8	978	c.921G>A	c.(919-921)GGG>GGA	p.G307G	TTC5_uc001vwu.2_Silent_p.G164G	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	307					DNA repair	cytoplasm|nucleus	binding			ovary(1)	1	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		ACTGATAGTGCCCATCACTGC	0.567												
TEP1	7011	broad.mit.edu	37	14	20864060	20864060	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:20864060G>T	uc001vxe.2	-	11	1748	c.1708C>A	c.(1708-1710)CAT>AAT	p.H570N	TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.H462N	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	570	TROVE.				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)		ATGGCATCATGGGCGTTAAGA	0.502												
OSGEP	55644	broad.mit.edu	37	14	20916116	20916116	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:20916116C>T	uc001vxf.2	-	8	1096	c.740G>A	c.(739-741)CGA>CAA	p.R247Q		NM_017807	NP_060277	Q9NPF4	OSGEP_HUMAN	O-sialoglycoprotein endopeptidase	247					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding				0	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		TGCCATGGCTCGCTCTGTGAT	0.458												
PSMB11	122706	broad.mit.edu	37	14	23511563	23511563	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:23511563C>T	uc010ake.1	+	1	188	c.129C>T	c.(127-129)GGC>GGT	p.G43G		NM_001099780	NP_001093250	A5LHX3	PSB11_HUMAN	proteasome beta 11 subunit precursor	43					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity				0	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		AGATCCATGGCCCCAGACTGG	0.647												
ACIN1	22985	broad.mit.edu	37	14	23564354	23564354	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:23564354C>A	uc001wit.3	-	1	470	c.142G>T	c.(142-144)GCC>TCC	p.A48S	ACIN1_uc010akg.2_Missense_Mutation_p.A48S|ACIN1_uc010tnj.1_Missense_Mutation_p.A48S|C14orf119_uc001wiu.2_5'Flank	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	48					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GTCCCGACGGCTTCGGGCATC	0.617												
MYH6	4624	broad.mit.edu	37	14	23854244	23854244	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:23854244T>C	uc001wjv.2	-	35	5237	c.5170A>G	c.(5170-5172)AGC>GGC	p.S1724G		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1724	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TTGATGAGGCTGGTGTTCTAG	0.458												
MYH6	4624	broad.mit.edu	37	14	23869968	23869968	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:23869968G>A	uc001wjv.2	-	13	1427	c.1360C>T	c.(1360-1362)CGC>TGC	p.R454C	MYH6_uc010akp.1_Missense_Mutation_p.R454C	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	454	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AAGTACTGGCGTGGCTGCTTG	0.552												
LRRC16B	90668	broad.mit.edu	37	14	24525593	24525593	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:24525593G>A	uc001wlj.2	+	11	1013	c.856G>A	c.(856-858)GAG>AAG	p.E286K		NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	286	LRR 2.									ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		CAACCCCATCGAGGACAAGGG	0.617												
SDR39U1	56948	broad.mit.edu	37	14	24909407	24909407	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:24909407C>T	uc001wpm.2	-	6	796	c.764G>A	c.(763-765)CGA>CAA	p.R255Q	KHNYN_uc010tpc.1_3'UTR|KHNYN_uc001wph.3_3'UTR|KHNYN_uc010alw.2_3'UTR|SDR39U1_uc001wpi.2_Missense_Mutation_p.R147Q|SDR39U1_uc001wpj.2_Missense_Mutation_p.R173Q|SDR39U1_uc001wpk.2_Missense_Mutation_p.R147Q|SDR39U1_uc001wpl.2_Missense_Mutation_p.R200Q|SDR39U1_uc001wpn.2_Missense_Mutation_p.R130Q|uc001wpo.1_5'Flank	NM_020195	NP_064580	Q9NRG7	D39U1_HUMAN	short chain dehydrogenase/reductase family 39U,	281							binding			pancreas(1)	1						GGCACGCTGTCGCCCAAAGAC	0.617												
FOXG1	2290	broad.mit.edu	37	14	29237213	29237213	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:29237213C>T	uc001wqe.2	+	1	927	c.728C>T	c.(727-729)CCG>CTG	p.P243L		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	243	Fork-head.				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GTGAAGGTGCCGCGCCACTAC	0.612												
AKAP6	9472	broad.mit.edu	37	14	33292184	33292184	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:33292184T>C	uc001wrq.2	+	13	5335	c.5165T>C	c.(5164-5166)CTG>CCG	p.L1722P		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1722					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGGAAGCGTCTGACTCGTTCA	0.468												
RPL10L	140801	broad.mit.edu	37	14	47120800	47120800	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:47120800G>A	uc001wwg.2	-	1	229	c.140C>T	c.(139-141)CCA>CTA	p.P47L		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	ribosomal protein L10-like protein	47					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			ovary(1)	1						GCCACCGAGTGGGAACTCATC	0.502												
SOS2	6655	broad.mit.edu	37	14	50585161	50585161	+	Silent	SNP	A	A	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:50585161A>T	uc001wxs.3	-	23	3998	c.3900T>A	c.(3898-3900)CCT>CCA	p.P1300P	SOS2_uc010ans.2_Silent_p.P135P|SOS2_uc010tql.1_Silent_p.P1267P|C14orf138_uc001wxn.1_5'Flank|C14orf138_uc001wxo.1_5'Flank|C14orf138_uc001wxp.1_5'Flank|C14orf138_uc001wxq.1_5'Flank	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	1300					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					TTGGCAGATGAGGGCTTGAAT	0.507												
SAV1	60485	broad.mit.edu	37	14	51107479	51107479	+	Silent	SNP	T	T	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:51107479T>G	uc001wyg.1	-	5	1100	c.939A>C	c.(937-939)CGA>CGC	p.R313R	SAV1_uc001wyh.1_Silent_p.R313R	NM_021818	NP_068590	Q9H4B6	SAV1_HUMAN	WW45 protein	313					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)	1	all_epithelial(31;0.000611)|Breast(41;0.0333)					TCACAGGGGCTCGTGCGTAAA	0.463												
NIN	51199	broad.mit.edu	37	14	51259462	51259462	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:51259462G>A	uc001wym.2	-	5	594	c.403C>T	c.(403-405)CCT>TCT	p.P135S	NIN_uc001wyi.2_Missense_Mutation_p.P135S|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.P135S|NIN_uc010tqp.1_Missense_Mutation_p.P141S|NIN_uc001wyo.2_Missense_Mutation_p.P135S|NIN_uc001wyp.1_Missense_Mutation_p.P97S	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	135					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					ATGTGTGAAGGCCGCGCTTCT	0.572			T	PDGFRB	MPD							
FRMD6	122786	broad.mit.edu	37	14	52186867	52186867	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:52186867G>A	uc001wzd.2	+	11	1404	c.1119G>A	c.(1117-1119)GCG>GCA	p.A373A	FRMD6_uc001wzb.2_Silent_p.A365A|FRMD6_uc001wzc.2_Silent_p.A365A|FRMD6_uc001wze.2_Silent_p.A296A|FRMD6_uc001wzf.2_Silent_p.A66A|FRMD6_uc001wzg.2_Silent_p.A15A	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	373						cytoskeleton|mitochondrion|plasma membrane	binding			ovary(1)|breast(1)|central_nervous_system(1)	3	all_epithelial(31;0.0163)|Breast(41;0.089)					GGAGCAGTGCGGGCAGCATGA	0.607												
PTGDR	5729	broad.mit.edu	37	14	52735331	52735331	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:52735331C>T	uc001wzq.2	+	1	901	c.799C>T	c.(799-801)CTG>TTG	p.L267L		NM_000953	NP_000944	Q13258	PD2R_HUMAN	prostaglandin D2 receptor	267	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CCTCCTGCTGCTGGCGCTGAT	0.687												
STYX	6815	broad.mit.edu	37	14	53217434	53217434	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:53217434A>G	uc010tqy.1	+	5	240	c.178A>G	c.(178-180)ATA>GTA	p.I60V	STYX_uc001xaa.2_Missense_Mutation_p.I60V	NM_001130701	NP_001124173	Q8WUJ0	STYX_HUMAN	serine/threonine/tyrosine interacting protein	60					protein dephosphorylation|spermatogenesis	cytoplasm	protein tyrosine/serine/threonine phosphatase activity				0	Breast(41;0.176)					AATAACCCATATAATATGCAT	0.289												
ACTR10	55860	broad.mit.edu	37	14	58678052	58678052	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:58678052C>T	uc001xdf.2	+	5	488	c.385C>T	c.(385-387)CTG>TTG	p.L129L	C14orf37_uc010tro.1_Intron|ACTR10_uc001xdg.2_5'UTR|ACTR10_uc001xdh.2_5'UTR|ACTR10_uc010trp.1_5'Flank|ACTR10_uc010apc.2_5'Flank	NM_018477	NP_060947	Q9NZ32	ARP10_HUMAN	uncharacterized hypothalamus protein HARP11	129						cytoplasm				central_nervous_system(1)	1						AATGGCTCTTCTGACGCTTGG	0.403												
SIX6	4990	broad.mit.edu	37	14	60976534	60976534	+	Missense_Mutation	SNP	C	C	T	rs142958302	by1000genomes	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:60976534C>T	uc001xfa.3	+	1	597	c.418C>T	c.(418-420)CGG>TGG	p.R140W		NM_007374	NP_031400	O95475	SIX6_HUMAN	SIX homeobox 6	140	Homeobox.				organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.088)		GGAGCGCACGCGGCACCTGCT	0.607												
SLC8A3	6547	broad.mit.edu	37	14	70634521	70634521	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:70634521C>T	uc001xly.2	-	2	1373	c.619G>A	c.(619-621)GCT>ACT	p.A207T	SLC8A3_uc001xlw.2_Missense_Mutation_p.A207T|SLC8A3_uc001xlx.2_Missense_Mutation_p.A207T|SLC8A3_uc001xlz.2_Missense_Mutation_p.A207T|SLC8A3_uc010ara.2_RNA	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	207	Helical; (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CTCCAAGCAGCGGTGATGAAG	0.498												
PCNX	22990	broad.mit.edu	37	14	71576248	71576248	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:71576248G>A	uc001xmo.2	+	35	7270	c.6824G>A	c.(6823-6825)CGG>CAG	p.R2275Q	PCNX_uc010are.1_Missense_Mutation_p.R2164Q|PCNX_uc010arf.1_Missense_Mutation_p.R1063Q|PCNX_uc001xmp.2_Missense_Mutation_p.R359Q	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	2275						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GAAGGAATCCGGTTAAAAGCT	0.473												
SIPA1L1	26037	broad.mit.edu	37	14	72190562	72190562	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:72190562C>T	uc001xms.2	+	16	4818	c.4470C>T	c.(4468-4470)CCC>CCT	p.P1490P	SIPA1L1_uc001xmt.2_Silent_p.P1469P|SIPA1L1_uc001xmu.2_Silent_p.P1469P|SIPA1L1_uc001xmv.2_Silent_p.P1490P|SIPA1L1_uc010ttm.1_Silent_p.P944P|SIPA1L1_uc001xmw.2_Silent_p.P255P	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1490					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGAAAAAACCCGAAGGAACCA	0.398												
ALDH6A1	4329	broad.mit.edu	37	14	74534089	74534089	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:74534089T>C	uc001xpo.2	-	8	1135	c.1036A>G	c.(1036-1038)AAT>GAT	p.N346D	C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010asa.2_Missense_Mutation_p.N191D|ALDH6A1_uc010tuq.1_Missense_Mutation_p.N333D	NM_005589	NP_005580	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6A1 precursor	346						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)	TTACCTGCATTGACTCTCAGG	0.517												
LTBP2	4053	broad.mit.edu	37	14	74973960	74973960	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:74973960C>T	uc001xqa.2	-	26	4216	c.3829G>A	c.(3829-3831)GAA>AAA	p.E1277K		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	1277	EGF-like 14; calcium-binding (Potential).|Cys-rich.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGGCTGTTTTCACACTTCCAG	0.592												
LTBP2	4053	broad.mit.edu	37	14	75022288	75022288	+	Silent	SNP	G	G	A	rs141536587		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:75022288G>A	uc001xqa.2	-	4	1326	c.939C>T	c.(937-939)AAC>AAT	p.N313N		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	313					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)		GGGGCAGGGCGTTGGAAGAGA	0.652												
PGF	5228	broad.mit.edu	37	14	75415222	75415222	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:75415222C>T	uc010ase.1	-	4	726	c.380G>A	c.(379-381)CGC>CAC	p.R127H	PGF_uc001xqz.2_Missense_Mutation_p.R127H|PGF_uc001xra.2_Missense_Mutation_p.R126H|PGF_uc001xrb.2_Missense_Mutation_p.R127H|PGF_uc010asf.1_3'UTR	NM_002632	NP_002623	P49763	PLGF_HUMAN	placental growth factor, vascular endothelial	127					angiogenesis|cell differentiation|cell-cell signaling|positive regulation of cell division|positive regulation of cell proliferation|vascular endothelial growth factor receptor signaling pathway	extracellular region|membrane	growth factor activity|heparin binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00668)		GCATTCGCAGCGAACGTGCTG	0.602												
EIF2B2	8892	broad.mit.edu	37	14	75470355	75470355	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:75470355T>G	uc001xrc.1	+	3	468	c.386T>G	c.(385-387)CTC>CGC	p.L129R		NM_014239	NP_055054	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B,	129					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00661)		TATGCCCAACTCCAGTCCAAC	0.527												
AHSA1	10598	broad.mit.edu	37	14	77935581	77935581	+	Missense_Mutation	SNP	C	C	T	rs147994825	by1000genomes	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:77935581C>T	uc001xtw.2	+	9	1166	c.1006C>T	c.(1006-1008)CGC>TGC	p.R336C		NM_012111	NP_036243	O95433	AHSA1_HUMAN	activator of heat shock 90kDa protein ATPase	336					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CTATGGCGCACGCTTATTTTA	0.597												
C14orf145	145508	broad.mit.edu	37	14	81259426	81259426	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:81259426T>C	uc001xux.2	-	13	1409	c.1238A>G	c.(1237-1239)GAA>GGA	p.E413G	C14orf145_uc010asz.1_RNA	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	413	Potential.					centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)		TTGCTGTTTTTCCCCATTCTC	0.413												
SEL1L	6400	broad.mit.edu	37	14	81993096	81993096	+	Silent	SNP	T	T	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:81993096T>G	uc010tvv.1	-	3	438	c.321A>C	c.(319-321)CCA>CCC	p.P107P	SEL1L_uc001xvo.3_Silent_p.P107P	NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like precursor	107	Lumenal (Potential).|Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0299)		GTACTTTCTTTGGCTCTTCAT	0.403												
ZC3H14	79882	broad.mit.edu	37	14	89039116	89039116	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:89039116G>A	uc001xww.2	+	6	851	c.626G>A	c.(625-627)CGC>CAC	p.R209H	ZC3H14_uc010twd.1_Missense_Mutation_p.R209H|ZC3H14_uc010twe.1_Missense_Mutation_p.R209H|ZC3H14_uc001xwx.2_Missense_Mutation_p.R209H|ZC3H14_uc010twf.1_Missense_Mutation_p.R54H|ZC3H14_uc001xwy.2_Missense_Mutation_p.R175H|ZC3H14_uc010twg.1_Missense_Mutation_p.R54H	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14 isoform 1	209						cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			ovary(2)|skin(1)	3						GGTTCTTCTCGCCCTTCTATT	0.398												
PSMC1	5700	broad.mit.edu	37	14	90738656	90738656	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:90738656C>T	uc001xyf.2	+	11	1276	c.1228C>T	c.(1228-1230)CGT>TGT	p.R410C	PSMC1_uc001xyg.2_Missense_Mutation_p.R337C|PSMC1_uc001xyh.2_Missense_Mutation_p.R337C	NM_002802	NP_002793	P62191	PRS4_HUMAN	proteasome 26S ATPase subunit 1	410					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		CTTAAGAGAACGTAGAATGAA	0.363												
C14orf102	55051	broad.mit.edu	37	14	90744727	90744727	+	Missense_Mutation	SNP	G	G	A	rs78302825		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:90744727G>A	uc001xyi.1	-	14	3479	c.3448C>T	c.(3448-3450)CGG>TGG	p.R1150W	C14orf102_uc010atp.1_Missense_Mutation_p.R655W|C14orf102_uc001xyj.1_Missense_Mutation_p.R919W	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	1150							protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		AGGCGCACCCGGAGCTCCTTC	0.637												
RIN3	79890	broad.mit.edu	37	14	93043773	93043773	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:93043773C>T	uc001yap.2	+	3	470	c.318C>T	c.(316-318)AAC>AAT	p.N106N	RIN3_uc010auk.2_Translation_Start_Site|RIN3_uc001yaq.2_Silent_p.N31N	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	106	SH2.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)				CTTCTCTGAACGAAAGCTCGG	0.527												
KIAA1409	57578	broad.mit.edu	37	14	94120340	94120340	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:94120340G>T	uc001ybv.1	+	36	5986	c.5903G>T	c.(5902-5904)AGC>ATC	p.S1968I	KIAA1409_uc001ybs.1_Missense_Mutation_p.S1946I	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	2123						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		AATGAGCTGAGCTCCATCGCA	0.517												
SERPINA5	5104	broad.mit.edu	37	14	95056470	95056470	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:95056470C>A	uc001ydm.2	+	4	922	c.712C>A	c.(712-714)CGC>AGC	p.R238S	SERPINA5_uc010ave.2_Missense_Mutation_p.R238S|SERPINA3_uc001ydo.3_5'Flank	NM_000624	NP_000615	P05154	IPSP_HUMAN	serine (or cysteine) proteinase inhibitor, clade	238					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			ovary(2)	2				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CATGATGAGCCGCGAGGATCA	0.562												
SERPINA3	12	broad.mit.edu	37	14	95081256	95081256	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:95081256C>T	uc001ydp.2	+	2	557	c.478C>T	c.(478-480)CTG>TTG	p.L160L	SERPINA3_uc001ydo.3_Silent_p.L185L|SERPINA3_uc010avf.1_RNA|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Silent_p.L160L|SERPINA3_uc001yds.2_Silent_p.L160L|SERPINA3_uc010avg.2_Silent_p.L160L	NM_001085	NP_001076	P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A, member 3	160					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TGCCAAGAGGCTGTATGGCTC	0.512												
BDKRB2	624	broad.mit.edu	37	14	96706825	96706825	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:96706825G>T	uc010avm.1	+	3	356	c.160G>T	c.(160-162)GGC>TGC	p.G54C	BDKRB2_uc010avl.1_3'UTR|BDKRB2_uc010twu.1_Missense_Mutation_p.G27C|BDKRB2_uc001yfg.2_Missense_Mutation_p.G54C	NM_000623	NP_000614	P30411	BKRB2_HUMAN	bradykinin receptor B2	54	Extracellular (Potential).				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			ovary(3)|breast(1)|kidney(1)	5		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		GGAGTGGCTGGGCTGGCTCAA	0.577												
BDKRB2	624	broad.mit.edu	37	14	96706965	96706965	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:96706965C>T	uc010avm.1	+	3	496	c.300C>T	c.(298-300)GCC>GCT	p.A100A	BDKRB2_uc010avl.1_3'UTR|BDKRB2_uc010twu.1_Silent_p.A73A|BDKRB2_uc001yfg.2_Silent_p.A100A	NM_000623	NP_000614	P30411	BKRB2_HUMAN	bradykinin receptor B2	100	Helical; Name=2; (Potential).				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			ovary(3)|breast(1)|kidney(1)	5		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		GGAACCTGGCCGCAGCAGACC	0.607												
CYP46A1	10858	broad.mit.edu	37	14	100182183	100182183	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:100182183C>T	uc001ygo.2	+	8	730	c.730C>T	c.(730-732)CGG>TGG	p.R244W	CYP46A1_uc001ygp.2_Missense_Mutation_p.R91W	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46	244					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity				0		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CCGGGAGGTCCGGGAGAGCAT	0.637												
PPP2R5C	5527	broad.mit.edu	37	14	102368058	102368058	+	Silent	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:102368058G>T	uc001yko.2	+	9	995	c.855G>T	c.(853-855)GTG>GTT	p.V285V	PPP2R5C_uc010txr.1_Silent_p.V316V|PPP2R5C_uc001ykk.2_Silent_p.V340V|PPP2R5C_uc010txt.1_Silent_p.V275V|PPP2R5C_uc001ykn.2_Silent_p.V285V|PPP2R5C_uc001ykp.2_Silent_p.V285V|PPP2R5C_uc001ykq.2_Silent_p.V183V	NM_002719	NP_002710	Q13362	2A5G_HUMAN	gamma isoform of regulatory subunit B56, protein	285					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein binding|protein phosphatase type 2A regulator activity|protein phosphatase type 2A regulator activity			ovary(1)|breast(1)	2						TTTTGTAGGTGGTGATGGCAC	0.453												
DYNC1H1	1778	broad.mit.edu	37	14	102452268	102452268	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:102452268G>A	uc001yks.2	+	8	1870	c.1706G>A	c.(1705-1707)CGG>CAG	p.R569Q		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	569	Interaction with DYNC1I2 (By similarity).|Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						GCTCGCCTTCGGGATCAGCTT	0.547												
WDR20	91833	broad.mit.edu	37	14	102675164	102675164	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:102675164C>T	uc001ykz.2	+	3	706	c.657C>T	c.(655-657)GGC>GGT	p.G219G	WDR20_uc001yky.1_Intron|WDR20_uc001yla.2_Silent_p.G95G|WDR20_uc001ylb.2_Silent_p.G158G|WDR20_uc010txu.1_Silent_p.G250G|WDR20_uc001ylc.2_Intron|WDR20_uc001yld.2_Silent_p.G219G|WDR20_uc001yle.2_Silent_p.G158G|WDR20_uc001ylf.2_Silent_p.G231G	NM_144574	NP_653175	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20 isoform 2	219	WD 2.										0						GGACGGTGGGCGAGGGGGCCC	0.577												
TECPR2	9895	broad.mit.edu	37	14	102915976	102915976	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:102915976C>T	uc001ylw.1	+	14	3234	c.3086C>T	c.(3085-3087)ACG>ATG	p.T1029M	TECPR2_uc010awl.2_Missense_Mutation_p.T1029M|TECPR2_uc010txx.1_Missense_Mutation_p.T192M	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1029							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3						GTGAGCATCACGGACTATGTG	0.532												
CDC42BPB	9578	broad.mit.edu	37	14	103404710	103404710	+	Silent	SNP	G	G	A	rs137905470		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:103404710G>A	uc001ymi.1	-	35	5098	c.4866C>T	c.(4864-4866)CCC>CCT	p.P1622P		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	1622					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGGTGGGAGCGGGGCCCGGCC	0.667												
CDC42BPB	9578	broad.mit.edu	37	14	103410756	103410756	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:103410756T>C	uc001ymi.1	-	30	4112	c.3880A>G	c.(3880-3882)ATC>GTC	p.I1294V	CDC42BPB_uc001ymj.1_Missense_Mutation_p.I396V	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	1294	CNH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CAGAGGAGGATTACGATCTTC	0.567												
C14orf73	91828	broad.mit.edu	37	14	103566851	103566851	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:103566851C>T	uc001ymk.2	+	1	371	c.295C>T	c.(295-297)CAT>TAT	p.H99Y		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	hypothetical protein LOC91828	99											0		Melanoma(154;0.155)	Epithelial(46;0.221)			AGCTACCGGCCATTCCCAGGC	0.642												
KLC1	3831	broad.mit.edu	37	14	104139470	104139470	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:104139470C>T	uc001yno.2	+	8	1415	c.1107C>T	c.(1105-1107)TAC>TAT	p.Y369Y	KLC1_uc010tyd.1_Silent_p.Y528Y|KLC1_uc010tye.1_Silent_p.Y365Y|KLC1_uc001ynm.1_Silent_p.Y369Y|KLC1_uc001ynn.1_Silent_p.Y363Y|KLC1_uc010tyf.1_Silent_p.Y369Y|KLC1_uc001ynp.1_5'Flank|KLC1_uc001ynr.1_5'Flank|KLC1_uc010awu.1_5'Flank|KLC1_uc001ynq.1_5'Flank|KLC1_uc001yns.2_5'Flank	NM_182923	NP_891553	Q07866	KLC1_HUMAN	kinesin light chain 1 isoform 2	369	TPR 4.				blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0		Melanoma(154;0.155)|all_epithelial(191;0.19)				TCGAGATCTACCAGACAAAAC	0.483												
ZFYVE21	79038	broad.mit.edu	37	14	104194188	104194188	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:104194188T>C	uc001yoc.2	+	3	329	c.295T>C	c.(295-297)TGC>CGC	p.C99R	ZFYVE21_uc001yod.2_Missense_Mutation_p.C99R	NM_024071	NP_076976	Q9BQ24	ZFY21_HUMAN	zinc finger, FYVE domain containing 21	99	FYVE-type.					cytoplasmic membrane-bounded vesicle|focal adhesion	metal ion binding				0		Melanoma(154;0.226)		Epithelial(152;0.245)		GTGCGCGGAGTGCGCCCTCGT	0.667												
AHNAK2	113146	broad.mit.edu	37	14	105413904	105413904	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:105413904C>T	uc010axc.1	-	7	8004	c.7884G>A	c.(7882-7884)GCG>GCA	p.A2628A	AHNAK2_uc001ypx.2_Silent_p.A2528A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2628						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTCCAGCCGCGCACCATCCA	0.592												
AHNAK2	113146	broad.mit.edu	37	14	105415580	105415580	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:105415580G>A	uc010axc.1	-	7	6328	c.6208C>T	c.(6208-6210)CAC>TAC	p.H2070Y	AHNAK2_uc001ypx.2_Missense_Mutation_p.H1970Y	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2070						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGGGCAGGTGCCCTTTGAGG	0.622												
AHNAK2	113146	broad.mit.edu	37	14	105416463	105416463	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:105416463C>T	uc010axc.1	-	7	5445	c.5325G>A	c.(5323-5325)GCG>GCA	p.A1775A	AHNAK2_uc001ypx.2_Silent_p.A1675A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1775						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCATCACCTCCGCCTTGGGGC	0.652												
AHNAK2	113146	broad.mit.edu	37	14	105417304	105417304	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:105417304A>G	uc010axc.1	-	7	4604	c.4484T>C	c.(4483-4485)ATG>ACG	p.M1495T	AHNAK2_uc001ypx.2_Missense_Mutation_p.M1395T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1495						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAACTTGGGCATTTTGAACTT	0.602												
OR4M2	390538	broad.mit.edu	37	15	22369288	22369288	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:22369288C>T	uc010tzu.1	+	1	713	c.713C>T	c.(712-714)GCC>GTC	p.A238V	LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M,	238	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ACCAACAGGGCCATGTCCACC	0.453												
TUBGCP5	114791	broad.mit.edu	37	15	22851104	22851104	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:22851104C>T	uc001yur.3	+	11	1496	c.1366C>T	c.(1366-1368)CAA>TAA	p.Q456*	TUBGCP5_uc001yuq.2_Nonsense_Mutation_p.Q456*|TUBGCP5_uc010axz.1_Silent_p.S27S	NM_052903	NP_443135	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	456					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			skin(1)	1		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		AGCCTCTGAGCAAACCGTAAG	0.468												
CYFIP1	23191	broad.mit.edu	37	15	22928162	22928162	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:22928162G>A	uc001yus.2	+	4	345	c.241G>A	c.(241-243)GTC>ATC	p.V81I	CYFIP1_uc001yut.2_Missense_Mutation_p.V81I|CYFIP1_uc010aya.1_Missense_Mutation_p.V109I	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	81					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		AGAATATGCTGTCATGCTGTA	0.607												
OCA2	4948	broad.mit.edu	37	15	28326974	28326974	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:28326974G>A	uc001zbh.3	-	2	157	c.47C>T	c.(46-48)GCG>GTG	p.A16V	OCA2_uc010ayv.2_Missense_Mutation_p.A16V	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	16	Cytoplasmic (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GAGCTCCACCGCCGGCGCGCC	0.662									Oculocutaneous_Albinism			
NDNL2	56160	broad.mit.edu	37	15	29561064	29561064	+	Nonsense_Mutation	SNP	G	G	T	rs145182709		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:29561064G>T	uc001zco.2	-	1	954	c.846C>A	c.(844-846)TAC>TAA	p.Y282*	FAM189A1_uc010azk.1_Intron	NM_138704	NP_619649	Q96MG7	MAGG1_HUMAN	necdin-like 2	282	MAGE.				regulation of growth	cytoplasm|nucleus					0		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AAGCCTCACAGTACTGCGCTG	0.562												
TJP1	7082	broad.mit.edu	37	15	30029534	30029534	+	Silent	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:30029534T>C	uc001zcr.2	-	11	1816	c.1341A>G	c.(1339-1341)GTA>GTG	p.V447V	TJP1_uc010azl.2_Silent_p.V435V|TJP1_uc001zcq.2_Silent_p.V451V|TJP1_uc001zcs.2_Silent_p.V447V	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	447	PDZ 3.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GAACGCCAGCTACAAATATTC	0.423												
ARHGAP11A	9824	broad.mit.edu	37	15	32929210	32929210	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:32929210G>T	uc001zgy.1	+	12	2958	c.2236G>T	c.(2236-2238)GGT>TGT	p.G746C	ARHGAP11A_uc010ubw.1_Missense_Mutation_p.G557C|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.G557C	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A isoform 1	746					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			skin(3)|breast(2)|urinary_tract(1)	6		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TATGATGGAAGGTAACTTACC	0.388												
SLC12A6	9990	broad.mit.edu	37	15	34532875	34532875	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:34532875A>G	uc001zhw.2	-	18	2587	c.2423T>C	c.(2422-2424)TTA>TCA	p.L808S	SLC12A6_uc001zhv.2_Missense_Mutation_p.L757S|SLC12A6_uc001zhx.2_Missense_Mutation_p.L793S|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.L749S|SLC12A6_uc001zib.2_Missense_Mutation_p.L799S|SLC12A6_uc001zic.2_Missense_Mutation_p.L808S|SLC12A6_uc010bau.2_Missense_Mutation_p.L808S|SLC12A6_uc001zid.2_Missense_Mutation_p.L749S|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Missense_Mutation_p.L620S	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	solute carrier family 12, member 6 isoform a	808					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|ovary(1)|skin(1)	7		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CTCAGCAGCTAAAGCTTCACC	0.458												
LPCAT4	254531	broad.mit.edu	37	15	34652412	34652412	+	Splice_Site	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:34652412T>C	uc001zig.2	-	12	1238	c.1144_splice	c.e12-1	p.D382_splice		NM_153613	NP_705841	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4						phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding				0						CTTGGTATCCTGGTGTGAAAA	0.552												
MEIS2	4212	broad.mit.edu	37	15	37390290	37390290	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:37390290G>A	uc001zjr.2	-	2	1160	c.123C>T	c.(121-123)CAC>CAT	p.H41H	MEIS2_uc001zjl.2_Silent_p.H28H|MEIS2_uc010ucj.1_Silent_p.H28H|MEIS2_uc001zjm.2_Translation_Start_Site|MEIS2_uc001zjn.2_Translation_Start_Site|MEIS2_uc001zjo.2_Silent_p.H41H|MEIS2_uc001zjp.2_Silent_p.H41H|MEIS2_uc001zjs.2_Silent_p.H41H|MEIS2_uc001zju.2_Silent_p.H28H|MEIS2_uc001zjt.2_Silent_p.H41H	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Meis homeobox 2 isoform c	41					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)	2		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GCGGCGGCCCGTGGTTCAGGT	0.682												
BUB1B	701	broad.mit.edu	37	15	40512803	40512803	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:40512803G>A	uc001zkx.3	+	23	3208	c.2996G>A	c.(2995-2997)CGG>CAG	p.R999Q	PAK6_uc010bbl.2_Intron|PAK6_uc010bbm.2_Intron	NM_001211	NP_001202	O60566	BUB1B_HUMAN	budding uninhibited by benzimidazoles 1 beta	999	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|kidney(1)	4		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TTCTTTGTGCGGATTCTGAAT	0.368			Mis|N|F|S			rhabdomyosarcoma			Mosaic_Variegated_Aneuploidy_Syndrome			
DISP2	85455	broad.mit.edu	37	15	40661464	40661464	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:40661464C>T	uc001zlk.1	+	8	3240	c.3151C>T	c.(3151-3153)CGT>TGT	p.R1051C		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	1051					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)		CCGCCTGAGCCGTGTGGCCTT	0.632												
CASC5	57082	broad.mit.edu	37	15	40954324	40954324	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:40954324C>A	uc010bbs.1	+	27	7128	c.6967C>A	c.(6967-6969)CTG>ATG	p.L2323M	CASC5_uc010bbt.1_Missense_Mutation_p.L2297M	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5 isoform 1	2323					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(3)|central_nervous_system(1)|skin(1)	5		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GAACAACTACCTGAAGAATGT	0.358												
RHOV	171177	broad.mit.edu	37	15	41165405	41165405	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:41165405C>T	uc001znd.2	-	3	712	c.562G>A	c.(562-564)GCC>ACC	p.A188T		NM_133639	NP_598378	Q96L33	RHOV_HUMAN	ras homolog gene family, member V	188					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome membrane|plasma membrane	GTP binding|metal ion binding				0		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		TGCGTCAAGGCTGAGCACTCA	0.577												
VPS18	57617	broad.mit.edu	37	15	41194934	41194934	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:41194934G>A	uc001zne.2	+	5	2656	c.2317G>A	c.(2317-2319)GCC>ACC	p.A773T		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	773	Clathrin.				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TGTACAGACAGCCATGGCTTG	0.557												
NUSAP1	51203	broad.mit.edu	37	15	41641419	41641419	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:41641419C>T	uc001zns.3	+	3	516	c.286C>T	c.(286-288)CGT>TGT	p.R96C	NUSAP1_uc001znq.3_5'UTR|NUSAP1_uc001znr.3_Missense_Mutation_p.R96C|NUSAP1_uc010bce.2_Missense_Mutation_p.R96C|NUSAP1_uc001znt.3_Missense_Mutation_p.R96C|NUSAP1_uc001znv.3_Missense_Mutation_p.R96C|NUSAP1_uc001znu.3_Missense_Mutation_p.R96C|NUSAP1_uc010ucw.1_Missense_Mutation_p.R73C|NUSAP1_uc001znw.3_5'UTR	NM_016359	NP_057443	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	96					cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding				0		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		CAAGACTGTCCGTGTGGACCC	0.423												
CAPN3	825	broad.mit.edu	37	15	42703188	42703188	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:42703188G>T	uc001zpn.1	+	22	2676	c.2370G>T	c.(2368-2370)GAG>GAT	p.E790D	CAPN3_uc001zpk.1_Missense_Mutation_p.E557D|CAPN3_uc001zpl.1_Missense_Mutation_p.E697D|CAPN3_uc010udf.1_Missense_Mutation_p.E703D|CAPN3_uc010udg.1_Missense_Mutation_p.E655D|CAPN3_uc001zpo.1_Missense_Mutation_p.E784D|CAPN3_uc001zpp.1_Missense_Mutation_p.E698D|CAPN3_uc001zpq.1_Missense_Mutation_p.E278D|CAPN3_uc010bcv.1_Missense_Mutation_p.E125D|CAPN3_uc001zpr.1_Missense_Mutation_p.E125D|CAPN3_uc001zps.1_Missense_Mutation_p.E125D|CAPN3_uc001zpt.1_Missense_Mutation_p.E125D	NM_000070	NP_000061	P20807	CAN3_HUMAN	calpain 3 isoform a	790	EF-hand 4.|Domain IV.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			central_nervous_system(1)	1		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TTAGGCTGGAGGGCATGTTCA	0.517												
UBR1	197131	broad.mit.edu	37	15	43378309	43378309	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:43378309A>G	uc001zqq.2	-	2	277	c.211T>C	c.(211-213)TTC>CTC	p.F71L	UBR1_uc010udk.1_Missense_Mutation_p.F71L	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin	71					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			lung(1)	1		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AGTGGAGTGAATATTGACATT	0.403												
CATSPER2	117155	broad.mit.edu	37	15	43924970	43924970	+	Silent	SNP	G	G	T	rs140242525		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:43924970G>T	uc001zsh.2	-	11	1556	c.1341C>A	c.(1339-1341)TCC>TCA	p.S447S	STRC_uc010udz.1_5'Flank|CATSPER2_uc010bdm.2_Intron|CATSPER2_uc001zsi.2_Silent_p.S445S|CATSPER2_uc001zsj.2_Silent_p.S445S	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	sperm-associated cation channel 2 isoform 2	447	Cytoplasmic (Potential).|Ser-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			ovary(1)	1		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		aggatgtggaggagacacagg	0.264												
CATSPER2	117155	broad.mit.edu	37	15	43925000	43925000	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:43925000C>T	uc001zsh.2	-	11	1526	c.1311G>A	c.(1309-1311)AAG>AAA	p.K437K	STRC_uc010udz.1_5'Flank|CATSPER2_uc010bdm.2_Intron|CATSPER2_uc001zsi.2_Silent_p.K435K|CATSPER2_uc001zsj.2_Silent_p.K435K	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	sperm-associated cation channel 2 isoform 2	437	Cytoplasmic (Potential).|Ser-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			ovary(1)	1		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GGTACTCTCTCTTTTTTGACA	0.294												
WDR76	79968	broad.mit.edu	37	15	44127316	44127316	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:44127316G>A	uc001zti.1	+	3	543	c.520G>A	c.(520-522)GCA>ACA	p.A174T		NM_024908	NP_079184	Q9H967	WDR76_HUMAN	WD repeat domain 76	174											0		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		ATCAGAAAACGCAGACTTTTT	0.294												
DUOX1	53905	broad.mit.edu	37	15	45445636	45445636	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:45445636C>T	uc001zus.1	+	27	3829	c.3483C>T	c.(3481-3483)AGC>AGT	p.S1161S	DUOX1_uc001zut.1_Silent_p.S1161S|DUOX1_uc010bee.1_Silent_p.S541S	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	1161	Helical; (Potential).|Interaction with TXNDC11 (By similarity).|Ferric oxidoreductase.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GCCCCCTCAGCGTCCTCTCTT	0.428												
SLC12A1	6557	broad.mit.edu	37	15	48566829	48566829	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:48566829T>C	uc001zwn.3	+	20	2680	c.2464T>C	c.(2464-2466)TCT>CCT	p.S822P	SLC12A1_uc010uew.1_Missense_Mutation_p.S628P|SLC12A1_uc001zwq.3_Missense_Mutation_p.S593P|SLC12A1_uc001zwr.3_Missense_Mutation_p.S549P	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	822	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ATTTGACATCTCTCAGGTTCT	0.279												
HDC	3067	broad.mit.edu	37	15	50534848	50534848	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:50534848G>T	uc001zxz.2	-	12	1704	c.1598C>A	c.(1597-1599)CCC>CAC	p.P533H	HDC_uc001zxy.2_Missense_Mutation_p.P276H|HDC_uc010uff.1_Missense_Mutation_p.P500H	NM_002112	NP_002103	P19113	DCHS_HUMAN	histidine decarboxylase	533					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CCTTTTCATGGGACCGGCTCC	0.567												
HDC	3067	broad.mit.edu	37	15	50544900	50544900	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:50544900G>A	uc001zxz.2	-	8	965	c.859C>T	c.(859-861)CGG>TGG	p.R287W	HDC_uc001zxy.2_Missense_Mutation_p.R30W|HDC_uc010uff.1_Missense_Mutation_p.R287W	NM_002112	NP_002103	P19113	DCHS_HUMAN	histidine decarboxylase	287					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	AGAAACCCCCGGAACTCGGGG	0.557												
HDC	3067	broad.mit.edu	37	15	50546332	50546332	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:50546332C>T	uc001zxz.2	-	6	821	c.715G>A	c.(715-717)GTC>ATC	p.V239I	HDC_uc001zxy.2_5'Flank|HDC_uc010uff.1_Missense_Mutation_p.V239I|HDC_uc010bet.1_Missense_Mutation_p.V160I|HDC_uc010beu.1_Missense_Mutation_p.V239I	NM_002112	NP_002103	P19113	DCHS_HUMAN	histidine decarboxylase	239					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CTTACAAAGACGGGCACCAAG	0.463												
MYO5C	55930	broad.mit.edu	37	15	52534329	52534329	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:52534329G>A	uc010bff.2	-	20	2609	c.2472C>T	c.(2470-2472)CGC>CGT	p.R824R	MYO5C_uc010uga.1_Intron|MYO5C_uc010ugb.1_Intron	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	824	IQ 3.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14				all cancers(107;0.0137)		GATACAGGCTGCGAACAAGAT	0.507												
UNC13C	440279	broad.mit.edu	37	15	54786884	54786884	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:54786884A>G	uc002ack.2	+	18	5012	c.5012A>G	c.(5011-5013)TAT>TGT	p.Y1671C		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1671	MHD1.				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)		TATAATGAATATGTGCGTGAA	0.338												
SLTM	79811	broad.mit.edu	37	15	59186705	59186705	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:59186705C>T	uc002afp.2	-	10	1392	c.1304G>A	c.(1303-1305)AGC>AAC	p.S435N	SLTM_uc002afn.2_Missense_Mutation_p.S4N|SLTM_uc002afo.2_Missense_Mutation_p.S417N|SLTM_uc002afq.2_Missense_Mutation_p.S4N|SLTM_uc010bgd.2_Missense_Mutation_p.S4N	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	435	RRM.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						CACCTCTGTGCTTGAAGACAT	0.413												
FOXB1	27023	broad.mit.edu	37	15	60297193	60297193	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:60297193G>A	uc002agj.1	+	2	510	c.31G>A	c.(31-33)GAC>AAC	p.D11N	FOXB1_uc010bgh.1_Intron	NM_012182	NP_036314	Q99853	FOXB1_HUMAN	forkhead box B1	11					axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(1)|central_nervous_system(1)	2						CACGTACAGCGACCAGAAGCC	0.627												
RORA	6095	broad.mit.edu	37	15	60806925	60806925	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:60806925G>A	uc002agv.2	-	5	569	c.413C>T	c.(412-414)GCC>GTC	p.A138V	uc002ags.1_Intron|RORA_uc002agt.3_Missense_Mutation_p.A50V|RORA_uc002agw.2_Missense_Mutation_p.A130V|RORA_uc002agx.2_Missense_Mutation_p.A105V	NM_134260	NP_599022	P35398	RORA_HUMAN	RAR-related orphan receptor A isoform b	138	Nuclear receptor.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			large_intestine(1)|ovary(1)	2						GGAGTAGGTGGCATTGCTTTG	0.433												
TPM1	7168	broad.mit.edu	37	15	63353977	63353977	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:63353977A>G	uc002alg.2	+	6	820	c.629A>G	c.(628-630)CAG>CGG	p.Q210R	TPM1_uc002alh.2_Intron|TPM1_uc010bgn.2_Intron|TPM1_uc002ali.2_Missense_Mutation_p.Q210R|TPM1_uc002alj.2_Missense_Mutation_p.Q210R|TPM1_uc002alk.2_Intron|TPM1_uc002all.2_Intron|TPM1_uc002alm.2_Missense_Mutation_p.Q252R|TPM1_uc010uie.1_Missense_Mutation_p.Q210R|TPM1_uc002alp.2_Missense_Mutation_p.Q210R|TPM1_uc010uif.1_Intron|TPM1_uc002alr.2_Intron|TPM1_uc002als.2_Missense_Mutation_p.Q174R|TPM1_uc010uig.1_Missense_Mutation_p.Q174R|TPM1_uc002alt.2_Intron|TPM1_uc010bgp.2_Intron	NM_001018005	NP_001018005	P09493	TPM1_HUMAN	tropomyosin 1 alpha chain isoform 1	210	By similarity.				cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle				0						CTGGAGGCTCAGGCTGAGAAG	0.483												
CILP	8483	broad.mit.edu	37	15	65497795	65497795	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:65497795C>T	uc002aon.2	-	5	615	c.434G>A	c.(433-435)CGC>CAC	p.R145H		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	145					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7						TGTGTCTCGGCGCAGGGATCC	0.557												
CILP	8483	broad.mit.edu	37	15	65499345	65499345	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:65499345C>T	uc002aon.2	-	4	380	c.199G>A	c.(199-201)GGG>AGG	p.G67R		NM_003613	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein	67					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				ovary(4)|pancreas(2)|skin(1)	7						TCGCCCTTCCCGCCTGGGTAG	0.602												
IGDCC4	57722	broad.mit.edu	37	15	65681222	65681222	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:65681222C>T	uc002aou.1	-	15	2841	c.2631G>A	c.(2629-2631)GAG>GAA	p.E877E	IGDCC4_uc002aot.1_Silent_p.E465E	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	877	Extracellular (Potential).|Fibronectin type-III 5.					integral to membrane|plasma membrane				ovary(1)|pancreas(1)|skin(1)	3						ACTCCACGATCTCCCCGTTGG	0.667												
SMAD6	4091	broad.mit.edu	37	15	67073733	67073733	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:67073733G>A	uc002aqf.2	+	4	2274	c.1351G>A	c.(1351-1353)GAG>AAG	p.E451K	SMAD6_uc010bhx.2_RNA|SMAD6_uc002aqg.2_Missense_Mutation_p.E190K	NM_005585	NP_005576	O43541	SMAD6_HUMAN	SMAD family member 6 isoform 1	451	MH2.				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			skin(1)	1						GCACGCGCCCGAGCCCGACGC	0.726												
SMAD3	4088	broad.mit.edu	37	15	67457691	67457691	+	Silent	SNP	C	C	A	rs138395233		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:67457691C>A	uc002aqj.2	+	3	799	c.501C>A	c.(499-501)CCC>CCA	p.P167P	SMAD3_uc010ujr.1_Silent_p.P62P|SMAD3_uc010ujs.1_Silent_p.P123P|SMAD3_uc010ujt.1_5'Flank	NM_005902	NP_005893	P84022	SMAD3_HUMAN	mothers against decapentaplegic homolog 3	167	Linker.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CTAACTTCCCCGCAGGCATCG	0.627												
GRAMD2	196996	broad.mit.edu	37	15	72459385	72459385	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:72459385C>T	uc002atq.2	-	6	445	c.421G>A	c.(421-423)GCA>ACA	p.A141T	GRAMD2_uc010bis.2_Missense_Mutation_p.A141T	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	141						integral to membrane					0						AGGAGCCGTGCCATCTTGTGT	0.572												
HCN4	10021	broad.mit.edu	37	15	73617718	73617718	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:73617718T>C	uc002avp.2	-	5	2652	c.1658A>G	c.(1657-1659)GAC>GGC	p.D553G		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	553	Cytoplasmic (Potential).		D -> N (in a patient with cardiac arrhythmia).		blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		CTCGTAGTAGTCGTGGATGCG	0.652												
CSK	1445	broad.mit.edu	37	15	75090973	75090973	+	Silent	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:75090973T>C	uc010bkb.1	+	4	216	c.33T>C	c.(31-33)GGT>GGC	p.G11G	CSK_uc010bka.2_Missense_Mutation_p.Y82H|CSK_uc002ays.2_Silent_p.G11G|CSK_uc010bkc.1_5'Flank	NM_001127190	NP_001120662	P41240	CSK_HUMAN	c-src tyrosine kinase	11	Interaction with PTPN8 (By similarity).|SH3.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			lung(2)|central_nervous_system(1)	3						GGCCATCCGGTACAGAATGTA	0.632												
LMAN1L	79748	broad.mit.edu	37	15	75108796	75108796	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:75108796A>G	uc002ayt.1	+	3	361	c.359A>G	c.(358-360)CAT>CGT	p.H120R	LMAN1L_uc010bkd.2_Missense_Mutation_p.H48R|LMAN1L_uc010ulo.1_Intron|LMAN1L_uc010bke.1_Missense_Mutation_p.H120R	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like precursor	120	Lumenal (Potential).|L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding				0						GGCAGGGGCCATGTAGGCTCT	0.632												
SCAMP2	10066	broad.mit.edu	37	15	75142904	75142904	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:75142904T>C	uc002azb.1	-	6	657	c.583A>G	c.(583-585)ACT>GCT	p.T195A	SCAMP2_uc002aza.1_Missense_Mutation_p.T45A|SCAMP2_uc010bkg.1_Intron	NM_005697	NP_005688	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	195	Helical; (Potential).				post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding			ovary(1)	1						GCACAGGGAGTGAAGATCAGA	0.557												
NEIL1	79661	broad.mit.edu	37	15	75644525	75644525	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:75644525T>C	uc002bad.2	+	3	1014	c.508T>C	c.(508-510)TTC>CTC	p.F170L	NEIL1_uc002bae.2_Missense_Mutation_p.F256L	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1	170					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding			ovary(1)	1						GGACCAGAGGTTCTTCAATGG	0.592								BER_DNA_glycosylases				
NEIL1	79661	broad.mit.edu	37	15	75644698	75644698	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:75644698G>A	uc002bad.2	+	4	1094	c.588G>A	c.(586-588)TCG>TCA	p.S196S	NEIL1_uc002bae.2_Silent_p.S282S	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1	196					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding			ovary(1)	1						AGGCCCGCTCGGTCCTGGAGG	0.652								BER_DNA_glycosylases				
SIN3A	25942	broad.mit.edu	37	15	75706642	75706642	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:75706642G>A	uc002bai.2	-	4	636	c.377C>T	c.(376-378)GCG>GTG	p.A126V	SIN3A_uc002baj.2_Missense_Mutation_p.A126V|SIN3A_uc010uml.1_Missense_Mutation_p.A126V	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	transcriptional co-repressor Sin3A	126	Interaction with HCFC1.|PAH 1.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			skin(3)|ovary(1)|lung(1)	5						ATAAGATAGCGCATCCTCCAC	0.353												
SGK269	79834	broad.mit.edu	37	15	77473630	77473630	+	Silent	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:77473630C>A	uc002bcm.2	-	3	947	c.639G>T	c.(637-639)GGG>GGT	p.G213G	SGK269_uc002bcn.2_Silent_p.G213G	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	213					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		CTTCTGTGCTCCCACTCAGAA	0.443												
ZFAND6	54469	broad.mit.edu	37	15	80414053	80414053	+	Splice_Site	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:80414053G>A	uc002bfe.1	+	4	466	c.155_splice	c.e4-1	p.A52_splice	ZFAND6_uc002bff.1_Splice_Site_p.A52_splice|ZFAND6_uc002bfg.1_Intron|ZFAND6_uc002bfh.1_Splice_Site_p.A52_splice|ZFAND6_uc002bfi.1_Splice_Site_p.A52_splice	NM_019006	NP_061879	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6								DNA binding|zinc ion binding				0						TACTGTTACAGCAACCTCTGT	0.398												
HOMER2	9455	broad.mit.edu	37	15	83523551	83523551	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:83523551C>T	uc002bjg.2	-	6	715	c.529G>A	c.(529-531)GCA>ACA	p.A177T	HOMER2_uc002bjh.2_Missense_Mutation_p.A166T|HOMER2_uc002bjj.2_Missense_Mutation_p.A166T|HOMER2_uc002bji.2_Missense_Mutation_p.A177T	NM_199330	NP_955362	Q9NSB8	HOME2_HUMAN	homer 2 isoform 2	177	Potential.				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane					0						ACGTTGGCTGCGCTGCAGGAC	0.672												
MFGE8	4240	broad.mit.edu	37	15	89453092	89453092	+	Nonsense_Mutation	SNP	G	G	A	rs141213799		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:89453092G>A	uc002bng.3	-	2	249	c.136C>T	c.(136-138)CGA>TGA	p.R46*	MFGE8_uc002bnf.3_5'UTR|MFGE8_uc002bnh.3_Nonsense_Mutation_p.R46*|MFGE8_uc010bnn.2_Nonsense_Mutation_p.R38*|MFGE8_uc010upq.1_Intron|MFGE8_uc010upr.1_Nonsense_Mutation_p.R46*|MFGE8_uc010bno.2_Intron	NM_005928	NP_005919	Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein isoform a	46	Cell attachment site.|EGF-like.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					ovary(1)	1	Lung NSC(78;0.0392)|all_lung(78;0.077)					ACATCTCCTCGCACTTCTTGG	0.532												
C15orf42	90381	broad.mit.edu	37	15	90168494	90168494	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:90168494C>T	uc002boe.2	+	20	4953	c.4953C>T	c.(4951-4953)CAC>CAT	p.H1651H	C15orf42_uc010upv.1_RNA	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	1651					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCCCCACCCACGGCCCTTCTA	0.577												
SEMA4B	10509	broad.mit.edu	37	15	90764988	90764988	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:90764988C>T	uc002boy.2	+	8	1135	c.852C>T	c.(850-852)CGC>CGT	p.R284R	SEMA4B_uc002boz.2_Silent_p.R284R|SEMA4B_uc010uqd.1_Silent_p.R122R|SEMA4B_uc002bpa.2_Silent_p.R122R|SEMA4B_uc010bnv.1_5'UTR	NM_020210	NP_064595			semaphorin 4B precursor											ovary(1)|breast(1)|kidney(1)	3	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			GCATTGCCCGCATCTGCAAGG	0.552											OREG0023469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FURIN	5045	broad.mit.edu	37	15	91424619	91424619	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:91424619C>T	uc002bpu.1	+	16	2112	c.1896C>T	c.(1894-1896)GAC>GAT	p.D632D		NM_002569	NP_002560	P09958	FURIN_HUMAN	furin preproprotein	632	Cys-rich.				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			central_nervous_system(4)|lung(2)|breast(1)	7	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CCGAGAATGACGTGGAGACCA	0.662												
IGF1R	3480	broad.mit.edu	37	15	99465555	99465555	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:99465555C>T	uc002bul.2	+	11	2430	c.2380C>T	c.(2380-2382)CGG>TGG	p.R794W	IGF1R_uc010urq.1_Missense_Mutation_p.R794W|IGF1R_uc010bon.2_Missense_Mutation_p.R794W|IGF1R_uc010boo.1_5'Flank	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	794	Extracellular (Potential).				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)	TTCTAACCTTCGGCCTTTCAC	0.517												
LYSMD4	145748	broad.mit.edu	37	15	100269416	100269416	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:100269416G>T	uc002bvk.2	-	3	866	c.803C>A	c.(802-804)CCA>CAA	p.P268Q	LYSMD4_uc002bvj.1_Intron|LYSMD4_uc010bou.1_Intron|LYSMD4_uc002bvl.2_Missense_Mutation_p.P269Q|LYSMD4_uc002bvm.2_3'UTR|LYSMD4_uc010bov.2_Missense_Mutation_p.P268Q			Q5XG99	LYSM4_HUMAN	SubName: Full=cDNA FLJ77040, highly similar to Homo sapiens LysM, putative peptidoglycan-binding, domain containing 4, mRNA; SubName: Full=LysM, putative peptidoglycan-binding, domain containing 4, isoform CRA_c;	268	Cytoplasmic (Potential).				cell wall macromolecule catabolic process	integral to membrane					0	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			GGCTTGCCCTGGAACTGTACC	0.493												
LRRK1	79705	broad.mit.edu	37	15	101565120	101565120	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:101565120C>T	uc002bwr.2	+	16	2499	c.2180C>T	c.(2179-2181)GCG>GTG	p.A727V	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	727	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGGAACCTGGCGCTGGGGGAG	0.622												
OR4F6	390648	broad.mit.edu	37	15	102345982	102345982	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:102345982G>A	uc010utr.1	+	1	60	c.60G>A	c.(58-60)TCG>TCA	p.S20S		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TCTCTGACTCGCGGAAGATCC	0.493												
IFT140	9742	broad.mit.edu	37	16	1642178	1642178	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:1642178G>A	uc002cmb.2	-	6	995	c.633C>T	c.(631-633)GAC>GAT	p.D211D		NM_014714	NP_055529	Q96RY7	IF140_HUMAN	intraflagellar transport 140	211										ovary(3)|pancreas(1)|skin(1)	5		Hepatocellular(780;0.219)				GTTCCTCACCGTCCATCAGAC	0.468												
CRAMP1L	57585	broad.mit.edu	37	16	1706049	1706049	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:1706049C>T	uc010uvh.1	+	9	1291	c.1291C>T	c.(1291-1293)CGG>TGG	p.R431W	CRAMP1L_uc002cmf.2_Intron	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Crm, cramped-like	431						nucleus	DNA binding				0						GGAGGGCGGCCGGTGCAAGCA	0.682												
ZNF598	90850	broad.mit.edu	37	16	2051135	2051135	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:2051135C>T	uc002cof.1	-	9	1086	c.1071G>A	c.(1069-1071)CAG>CAA	p.Q357Q	ZNF598_uc002coe.1_5'UTR	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	zinc finger protein 598	357						intracellular	zinc ion binding			lung(1)|breast(1)	2						CCTCCTCCTGCTGCTGTGCGG	0.682												
PKD1	5310	broad.mit.edu	37	16	2160688	2160688	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:2160688G>A	uc002cos.1	-	15	4689	c.4480C>T	c.(4480-4482)CGC>TGC	p.R1494C	PKD1_uc002cot.1_Missense_Mutation_p.R1494C	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	1494	Extracellular (Potential).|PKD 10.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						CTGGCGGGGCGCCCACGGCCC	0.652												
SRRM2	23524	broad.mit.edu	37	16	2814062	2814062	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:2814062C>T	uc002crk.2	+	11	4082	c.3533C>T	c.(3532-3534)GCA>GTA	p.A1178V	SRRM2_uc002crj.1_Missense_Mutation_p.A1082V|SRRM2_uc002crl.1_Missense_Mutation_p.A1178V|SRRM2_uc010bsu.1_Missense_Mutation_p.A1082V	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	1178	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GATGCTACTGCATCACCTCCT	0.473												
SRRM2	23524	broad.mit.edu	37	16	2817604	2817604	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:2817604G>A	uc002crk.2	+	11	7624	c.7075G>A	c.(7075-7077)GCA>ACA	p.A2359T	SRRM2_uc002crj.1_Missense_Mutation_p.A2263T|SRRM2_uc002crl.1_Missense_Mutation_p.A2359T|SRRM2_uc010bsu.1_Missense_Mutation_p.A2263T	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	2359	Ala-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CAGAACCGCCGCAGCCTTGGC	0.632												
PRSS21	10942	broad.mit.edu	37	16	2871411	2871411	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:2871411G>T	uc002crt.2	+	6	856	c.750G>T	c.(748-750)TGG>TGT	p.W250C	PRSS21_uc002crs.2_Missense_Mutation_p.W248C|PRSS21_uc002crr.2_Missense_Mutation_p.W236C	NM_006799	NP_006790	Q9Y6M0	TEST_HUMAN	testisin isoform 1	250	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			ovary(1)|skin(1)	2						ATGGACTGTGGTATCAGATTG	0.612												
MMP25	64386	broad.mit.edu	37	16	3100409	3100409	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:3100409G>C	uc002cth.2	+	4	760	c.523G>C	c.(523-525)GCC>CCC	p.A175P	MMP25_uc002cti.1_Missense_Mutation_p.A111P	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN	matrix metalloproteinase 25 preproprotein	175					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0						CATCGACTTTGCCCGCGCCTT	0.637												
ZSCAN10	84891	broad.mit.edu	37	16	3139433	3139433	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:3139433C>T	uc002ctv.1	-	5	1925	c.1837G>A	c.(1837-1839)GGC>AGC	p.G613S	ZSCAN10_uc002cty.1_Missense_Mutation_p.G274S|ZSCAN10_uc002ctw.1_Missense_Mutation_p.G531S|ZSCAN10_uc002ctx.1_Missense_Mutation_p.G541S	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	613	C2H2-type 11.				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1						AAACGGTGGCCGCAGGTGTCG	0.711												
TIGD7	91151	broad.mit.edu	37	16	3349597	3349597	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:3349597G>A	uc002cus.2	-	1	1804	c.1018C>T	c.(1018-1020)CGG>TGG	p.R340W	ZNF263_uc002cur.2_3'UTR	NM_033208	NP_149985	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	340	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0						CTATACAGCCGTTTGCAGCTC	0.274												
CREBBP	1387	broad.mit.edu	37	16	3777887	3777887	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:3777887G>A	uc002cvv.2	-	31	7365	c.7161C>T	c.(7159-7161)CTC>CTT	p.L2387L	CREBBP_uc002cvw.2_Silent_p.L2349L	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	2387					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)		TGGTGACTGCGAGTCCGGGGT	0.642			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome			
CREBBP	1387	broad.mit.edu	37	16	3781302	3781302	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:3781302G>A	uc002cvv.2	-	30	5267	c.5063C>T	c.(5062-5064)ACG>ATG	p.T1688M	CREBBP_uc002cvw.2_Missense_Mutation_p.T1650M	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1688	Interaction with TRERF1.				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)		CATGCAGAGCGTGGACCACTT	0.632			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome			
CREBBP	1387	broad.mit.edu	37	16	3786655	3786655	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:3786655T>C	uc002cvv.2	-	27	4760	c.4556A>G	c.(4555-4557)TAC>TGC	p.Y1519C	CREBBP_uc002cvw.2_Missense_Mutation_p.Y1481C	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1519	Interaction with TRERF1.				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)		GGGTACCTTGTAGTCATGGAT	0.478			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome			
SRL	6345	broad.mit.edu	37	16	4292061	4292061	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:4292061G>A	uc002cvz.3	-	1	21	c.8C>T	c.(7-9)GCG>GTG	p.A3V	SRL_uc002cvy.3_RNA	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	sarcalumenin	3						sarcoplasmic reticulum lumen	GTP binding|GTPase activity			ovary(3)|skin(2)	5						CAGGACCAGCGCCCTCATGGT	0.667												
SEPT12	124404	broad.mit.edu	37	16	4834042	4834042	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:4834042G>A	uc002cxq.2	-	5	543	c.402C>T	c.(400-402)AAC>AAT	p.N134N	SEPT12_uc002cxr.2_Intron|SEPT12_uc010bty.2_RNA	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	septin 12 isoform 2	134					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			skin(1)	1						CGTATTGCTCGTTGATGTAGC	0.627												
A2BP1	54715	broad.mit.edu	37	16	7680608	7680608	+	Missense_Mutation	SNP	C	C	T	rs145006582		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:7680608C>T	uc002cys.2	+	11	1668	c.680C>T	c.(679-681)ACG>ATG	p.T227M	A2BP1_uc010buf.1_Missense_Mutation_p.T227M|A2BP1_uc002cyr.1_Missense_Mutation_p.T226M|A2BP1_uc002cyt.2_Intron|A2BP1_uc010uxz.1_Missense_Mutation_p.T270M|A2BP1_uc010uya.1_Missense_Mutation_p.T184M|A2BP1_uc002cyv.1_Missense_Mutation_p.T227M|A2BP1_uc010uyb.1_Missense_Mutation_p.T227M|A2BP1_uc002cyw.2_Missense_Mutation_p.T247M|A2BP1_uc002cyy.2_Missense_Mutation_p.T247M|A2BP1_uc002cyx.2_Missense_Mutation_p.T247M|A2BP1_uc010uyc.1_Intron	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	227					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	p.T247M(1)			0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		TTCGTAGGCACGGTCCTGTTG	0.498												
NDE1	54820	broad.mit.edu	37	16	15781279	15781279	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:15781279C>T	uc002ddt.1	+	4	477	c.434C>T	c.(433-435)GCC>GTC	p.A145V	NDE1_uc010uzy.1_Missense_Mutation_p.A145V|NDE1_uc002dds.2_Missense_Mutation_p.A145V|NDE1_uc002ddu.1_Missense_Mutation_p.A82V	NM_017668	NP_060138	Q9NXR1	NDE1_HUMAN	nuclear distribution gene E homolog 1	145	Interaction with PAFAH1B1 (By similarity).|Potential.				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			ovary(1)	1						TTGAATCAGGCCATCGAAAGA	0.498												
MYH11	4629	broad.mit.edu	37	16	15813528	15813528	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:15813528C>T	uc002ddy.2	-	35	5103	c.4996G>A	c.(4996-4998)GCC>ACC	p.A1666T	MYH11_uc002ddv.2_Missense_Mutation_p.A1673T|MYH11_uc002ddw.2_Missense_Mutation_p.A1666T|MYH11_uc002ddx.2_Missense_Mutation_p.A1673T|MYH11_uc010bvg.2_Missense_Mutation_p.A1498T|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Missense_Mutation_p.A372T|NDE1_uc002ddz.1_5'Flank	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1666	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						TCTCTGGAGGCACGGGCATCT	0.512			T	CBFB	AML							
SMG1	23049	broad.mit.edu	37	16	18880551	18880551	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:18880551C>T	uc002dfm.2	-	20	3071	c.2708G>A	c.(2707-2709)CGC>CAC	p.R903H	SMG1_uc010bwb.2_Missense_Mutation_p.R763H	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	903	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						CAGGAGATTGCGTGGAATTGT	0.468												
C16orf62	57020	broad.mit.edu	37	16	19702698	19702698	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:19702698G>A	uc002dgn.1	+	29	2563	c.2551G>A	c.(2551-2553)GGG>AGG	p.G851R	C16orf62_uc002dgo.1_Missense_Mutation_p.G758R|C16orf62_uc002dgp.1_Missense_Mutation_p.G600R	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	hypothetical protein LOC57020	851						integral to membrane				ovary(1)	1						CAGCCTCTACGGGGGAGACTC	0.572												
GGA2	23062	broad.mit.edu	37	16	23480253	23480253	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:23480253G>T	uc002dlq.2	-	16	1761	c.1685C>A	c.(1684-1686)CCT>CAT	p.P562H		NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	ADP-ribosylation factor binding protein 2	562	GAE.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.0386)		CACAGCTGGAGGCATCAAAGG	0.507												
TNRC6A	27327	broad.mit.edu	37	16	24801392	24801392	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:24801392A>G	uc002dmm.2	+	6	1543	c.1429A>G	c.(1429-1431)AGT>GGT	p.S477G	TNRC6A_uc010bxs.2_Missense_Mutation_p.S224G|TNRC6A_uc010vcc.1_Missense_Mutation_p.S224G|TNRC6A_uc002dmn.2_Missense_Mutation_p.S224G|TNRC6A_uc002dmo.2_Missense_Mutation_p.S224G	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	477	Sufficient for interaction with EIF2C2.|Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		TGAGCTGCCTAGTAGTAACAC	0.443												
ZKSCAN2	342357	broad.mit.edu	37	16	25251835	25251835	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:25251835C>T	uc002dod.3	-	7	2613	c.2206G>A	c.(2206-2208)GTT>ATT	p.V736I	ZKSCAN2_uc010vcl.1_Missense_Mutation_p.V532I	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	736					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|breast(1)	4				GBM - Glioblastoma multiforme(48;0.0378)		TGATGCACAACGGCTTTCCCT	0.473												
HS3ST4	9951	broad.mit.edu	37	16	26147016	26147016	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:26147016G>A	uc002dof.2	+	2	1210	c.818G>A	c.(817-819)CGC>CAC	p.R273H		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	heparan sulfate D-glucosaminyl	273	Lumenal (Potential).				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			large_intestine(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.0988)		GCTCCCAAGCGCATTCACTCC	0.493												
KIAA0556	23247	broad.mit.edu	37	16	27761081	27761081	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:27761081C>T	uc002dow.2	+	16	2824	c.2800C>T	c.(2800-2802)CGG>TGG	p.R934W		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	934										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						AAAGAGCAGCCGGCACAGCGA	0.642												
XPO6	23214	broad.mit.edu	37	16	28164076	28164076	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:28164076C>T	uc002dpa.1	-	8	1629	c.1128G>A	c.(1126-1128)CGG>CGA	p.R376R	XPO6_uc002dpb.1_Silent_p.R362R|XPO6_uc010vcp.1_Silent_p.R376R	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	exportin 6	376					protein export from nucleus		protein binding|protein transporter activity			ovary(1)|skin(1)	2						TCACAAAGAGCCGAAGAAAGT	0.393												
ATP2A1	487	broad.mit.edu	37	16	28909569	28909569	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:28909569G>A	uc002dro.1	+	14	1745	c.1561G>A	c.(1561-1563)GTC>ATC	p.V521I	uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.V521I|ATP2A1_uc002drp.1_Missense_Mutation_p.V396I	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	521	Cytoplasmic (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CCCTGAGGGCGTCATCGACCG	0.597												
SEPHS2	22928	broad.mit.edu	37	16	30455992	30455992	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:30455992C>T	uc010ves.1	-	2	1233	c.1057G>A	c.(1057-1059)GTC>ATC	p.V353I	SEPHS2_uc002dyh.1_Missense_Mutation_p.V296I|SEPHS2_uc010vet.1_Missense_Mutation_p.V235I	NM_012248	NP_036380	Q99611	SPS2_HUMAN	selenophosphate synthetase 2	353					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(2)	2						GCCTTGCTGACGGCAGCCATC	0.478												
ZNF768	79724	broad.mit.edu	37	16	30536304	30536304	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:30536304G>A	uc002dyk.3	-	2	1333	c.1157C>T	c.(1156-1158)TCG>TTG	p.S386L	ZNF768_uc010vex.1_Missense_Mutation_p.S355L|uc002dyl.1_5'Flank|ZNF768_uc010vew.1_Missense_Mutation_p.S355L	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	386	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding				0						GCGCAGGGACGAGTTCTGGCT	0.652												
SRCAP	10847	broad.mit.edu	37	16	30750269	30750269	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:30750269C>A	uc002dze.1	+	34	9293	c.8908C>A	c.(8908-8910)CCA>ACA	p.P2970T	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.P2765T	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	2970	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			ACAGCCACCCCCACACCCATC	0.577												
SETD1A	9739	broad.mit.edu	37	16	30982758	30982758	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:30982758G>A	uc002ead.1	+	13	3762	c.3076G>A	c.(3076-3078)GAA>AAA	p.E1026K		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	1026	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						CTCAGATGGCGAAAATGACAG	0.393												
ZNF646	9726	broad.mit.edu	37	16	31091411	31091411	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:31091411C>T	uc002eap.2	+	2	4055	c.3766C>T	c.(3766-3768)CGA>TGA	p.R1256*		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	1256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						TGCAGATCCCCGACGTTTCCG	0.652												
ZNF646	9726	broad.mit.edu	37	16	31092651	31092651	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:31092651C>T	uc002eap.2	+	2	5295	c.5006C>T	c.(5005-5007)GCG>GTG	p.A1669V		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	1669					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						ACGTCCATGGCGGCTGAGGAC	0.667												
FUS	2521	broad.mit.edu	37	16	31195533	31195533	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:31195533C>T	uc002ebf.2	+	5	422	c.339C>T	c.(337-339)TAC>TAT	p.Y113Y	FUS_uc002ebe.1_Silent_p.Y113Y|FUS_uc002ebh.2_Silent_p.Y112Y|FUS_uc002ebg.2_Translation_Start_Site|FUS_uc002ebi.2_Silent_p.Y113Y|FUS_uc002ebj.2_Translation_Start_Site|FUS_uc002ebk.1_5'Flank	NM_004960	NP_004951	P35637	FUS_HUMAN	fusion (involved in t(12;16) in malignant	113	Gln/Gly/Ser/Tyr-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/DDIT3(623)|FUS/ERG(163)|FUS/CREB3L2(158)|FUS/CREB3L1(6)|FUS/ATF1(4)|FUS/FEV(2)	soft_tissue(791)|haematopoietic_and_lymphoid_tissue(153)|bone(12)|breast(2)	958		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		TCCCTAGTTACGGTAGCAGTT	0.507			T	DDIT3|ERG|FEV|ATF1|CREB3L2|CREB3L1	liposarcoma|AML|Ewing sarcoma|angiomatoid fibrous histiocytoma|fibromyxoid sarcoma							
PYDC1	260434	broad.mit.edu	37	16	31228091	31228091	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:31228091G>A	uc002ebo.2	-	1	308	c.259C>T	c.(259-261)CGG>TGG	p.R87W	TRIM72_uc002ebn.1_Intron	NM_152901	NP_690865	Q8WXC3	PYDC1_HUMAN	pyrin domain containing 1	87	DAPIN.				innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex|nucleus	cysteine-type endopeptidase activity|protein binding				0						CACGCAGCCCGCTGCAGCCGT	0.677												
ADCY7	113	broad.mit.edu	37	16	50342322	50342322	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:50342322G>A	uc002egd.1	+	15	2203	c.1935G>A	c.(1933-1935)TCG>TCA	p.S645S	ADCY7_uc002egc.1_Silent_p.S645S	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	645					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CCAAGTTCTCGGTAAGTGGGG	0.682												
ADCY7	113	broad.mit.edu	37	16	50346848	50346848	+	Silent	SNP	C	C	T	rs143161770		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:50346848C>T	uc002egd.1	+	21	2920	c.2652C>T	c.(2650-2652)TCC>TCT	p.S884S		NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	884	Cytoplasmic (Potential).|Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TGTTTGCCTCCGTGCCGGACT	0.532												
BRD7	29117	broad.mit.edu	37	16	50354205	50354205	+	Silent	SNP	C	C	T	rs148031885	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:50354205C>T	uc002egf.1	-	16	1777	c.1710G>A	c.(1708-1710)CCG>CCA	p.P570P	BRD7_uc002ege.1_Silent_p.P571P	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	bromodomain containing 7	570					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding				0		all_cancers(37;0.0127)				AGATCATGTTCGGAGGGGGTC	0.468												
CHD9	80205	broad.mit.edu	37	16	53276875	53276875	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:53276875A>G	uc002ehb.2	+	12	3165	c.3001A>G	c.(3001-3003)AGG>GGG	p.R1001G	CHD9_uc002egy.2_Missense_Mutation_p.R1001G|CHD9_uc002eha.1_Missense_Mutation_p.R1001G|CHD9_uc002ehc.2_Missense_Mutation_p.R1001G|CHD9_uc002ehf.2_Missense_Mutation_p.R115G|CHD9_uc002ehd.2_Missense_Mutation_p.R527G|CHD9_uc002ehe.1_Missense_Mutation_p.R115G	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1001	Helicase ATP-binding.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				TGAAGCACATAGGTTAAAAAA	0.338												
AMFR	267	broad.mit.edu	37	16	56419830	56419830	+	Splice_Site	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:56419830C>T	uc002eiy.2	-	10	1585	c.1380_splice	c.e10+1	p.M460_splice	AMFR_uc002eix.2_Splice_Site_p.M94_splice	NM_001144	NP_001135	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor						endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)	2						GCAGACCTTACCATTGCATTG	0.502												
NLRC5	84166	broad.mit.edu	37	16	57100498	57100498	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:57100498G>T	uc002ekk.1	+	34	4519	c.4294G>T	c.(4294-4296)GAA>TAA	p.E1432*	NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_Nonsense_Mutation_p.E319*	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	1432					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				TCCTCGCCAGGAAGAGAATCC	0.622												
NLRC5	84166	broad.mit.edu	37	16	57111659	57111659	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:57111659G>A	uc002ekk.1	+	42	5173	c.4948G>A	c.(4948-4950)GGG>AGG	p.G1650R	NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekq.1_Missense_Mutation_p.G192R|NLRC5_uc002ekr.1_Missense_Mutation_p.G537R	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	1650	LRR 21.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				CAGCTCAGCCGGGGGAGTGCA	0.642												
CNOT1	23019	broad.mit.edu	37	16	58581543	58581543	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:58581543C>T	uc002env.2	-	26	3859	c.3566G>A	c.(3565-3567)CGT>CAT	p.R1189H	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.R1184H|CNOT1_uc002enx.2_Missense_Mutation_p.R1189H|CNOT1_uc010vik.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1189					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAGCAAAGAACGATCTGAGAA	0.358												
CDH8	1006	broad.mit.edu	37	16	61688000	61688000	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:61688000C>T	uc002eog.1	-	12	2164	c.1912G>A	c.(1912-1914)GTG>ATG	p.V638M		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	638	Helical; (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AACAGCACCACGATGACTAGA	0.358												
CDH16	1014	broad.mit.edu	37	16	66943992	66943992	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:66943992G>A	uc002eql.2	-	16	2245	c.2172C>T	c.(2170-2172)TCC>TCT	p.S724S	CDH16_uc010cdy.2_Silent_p.S702S|CDH16_uc002eqm.2_Silent_p.S627S	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	724	Extracellular (Potential).|Ectodomain G.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GGTAGGCATGGGAACCTTTTG	0.622												
ELMO3	79767	broad.mit.edu	37	16	67236560	67236560	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:67236560C>T	uc002esa.2	+	15	1631	c.1588C>T	c.(1588-1590)CGC>TGC	p.R530C	ELMO3_uc002esb.2_Missense_Mutation_p.R513C|ELMO3_uc002esc.2_Missense_Mutation_p.R364C|uc010vjf.1_5'Flank|MIR328_hsa-mir-328|MI0000804_5'Flank	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	477	ELMO.				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GCAGCTGGCCCGCACTCTGGC	0.662												
LRRC36	55282	broad.mit.edu	37	16	67410682	67410682	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:67410682G>A	uc002esv.2	+	11	1732	c.1713G>A	c.(1711-1713)CCG>CCA	p.P571P	LRRC36_uc002esw.2_RNA|LRRC36_uc002esx.2_Silent_p.P450P|LRRC36_uc010vjk.1_Intron|LRRC36_uc010vjl.1_Intron|LRRC36_uc002esy.2_Silent_p.P81P	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36 isoform 1	571											0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CTTCTCAGCCGAGGTGTTGCT	0.527												
FAM65A	79567	broad.mit.edu	37	16	67576629	67576629	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:67576629G>C	uc010vjp.1	+	13	2096	c.2000G>C	c.(1999-2001)GGT>GCT	p.G667A	FAM65A_uc010cei.1_Missense_Mutation_p.G489A|FAM65A_uc002eth.2_Missense_Mutation_p.G647A|FAM65A_uc010cej.2_Missense_Mutation_p.G650A|FAM65A_uc002eti.1_Missense_Mutation_p.G610A|FAM65A_uc010vjq.1_Missense_Mutation_p.G661A|FAM65A_uc002etj.1_Missense_Mutation_p.G646A|FAM65A_uc002etk.2_Missense_Mutation_p.G646A	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	651	Pro-rich.					cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		ACCCCCAGTGGTATGGGCCTA	0.562												
C16orf48	84080	broad.mit.edu	37	16	67697400	67697400	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:67697400G>A	uc002etw.1	-	6	1086	c.803C>T	c.(802-804)CCG>CTG	p.P268L	ACD_uc002etp.3_5'Flank|ACD_uc002etq.3_5'Flank|ACD_uc002etr.3_5'Flank|ACD_uc010vjt.1_5'Flank|C16orf48_uc002etv.1_Missense_Mutation_p.P150L|C16orf48_uc010cem.1_Silent_p.A213A	NM_032140	NP_115516	Q9H0I2	CP048_HUMAN	hypothetical protein LOC84080	268						microtubule cytoskeleton	protein binding				0		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGCAGGGTCCGGCTGGCTCTG	0.662												
CTRL	1506	broad.mit.edu	37	16	67964403	67964403	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:67964403C>T	uc002euw.2	-	5	417	c.407G>A	c.(406-408)CGC>CAC	p.R136H		NM_001907	NP_001898	P40313	CTRL_HUMAN	chymotrypsin-like precursor	136	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		TGGCGAGATGCGTGTTGTGTA	0.602												
LCAT	3931	broad.mit.edu	37	16	67974268	67974268	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:67974268C>T	uc002euy.1	-	6	873	c.862G>A	c.(862-864)GTG>ATG	p.V288M		NM_000229	NP_000220	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase precursor	288					cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		GAAATGAACACGTGGTCCTCA	0.557												
TMCO7	79613	broad.mit.edu	37	16	68941368	68941368	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:68941368C>A	uc002ewi.3	+	10	1702	c.1690C>A	c.(1690-1692)CTG>ATG	p.L564M		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	564						integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		AGATGAAGCCCTGTACCAGAA	0.468												
FUK	197258	broad.mit.edu	37	16	70505166	70505166	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:70505166C>T	uc002eyy.2	+	13	1310	c.1252C>T	c.(1252-1254)CGT>TGT	p.R418C	FUK_uc010cft.2_Missense_Mutation_p.R450C|FUK_uc002eyz.2_5'UTR	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	fucokinase	418						cytoplasm	ATP binding|fucokinase activity			ovary(1)	1		Ovarian(137;0.0694)				CCGGGAGCTGCGTGACCTTGT	0.672												
FTSJD1	55783	broad.mit.edu	37	16	71318067	71318067	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:71318067G>A	uc010cga.2	-	3	2163	c.1757C>T	c.(1756-1758)TCG>TTG	p.S586L	FTSJD1_uc002ezy.3_Missense_Mutation_p.S586L|FTSJD1_uc002ezz.3_Missense_Mutation_p.S586L	NM_001099642	NP_001093112	Q8IYT2	FTSJ1_HUMAN	FtsJ methyltransferase domain containing 1	586						integral to membrane	methyltransferase activity|nucleic acid binding			skin(1)	1						ACGGAGAGTCGAAAAGCCCAC	0.433												
PHLPP2	23035	broad.mit.edu	37	16	71748635	71748635	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:71748635C>T	uc002fax.2	-	1	70	c.64G>A	c.(64-66)GAC>AAC	p.D22N	PHLPP2_uc010cgf.2_Missense_Mutation_p.D22N|PHLPP2_uc002fay.1_Missense_Mutation_p.D22N	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	22						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						CTTAGCCAGTCTCTTTCTCGA	0.363												
PKD1L2	114780	broad.mit.edu	37	16	81167281	81167281	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:81167281C>T	uc002fgh.1	-	35	5744	c.5744G>A	c.(5743-5745)CGA>CAA	p.R1915Q	PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	1915	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GCTGTTTCTTCGTGCTCGGAA	0.562												
BANP	54971	broad.mit.edu	37	16	88061178	88061178	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:88061178C>T	uc002fkr.2	+	8	1182	c.958C>T	c.(958-960)CGC>TGC	p.R320C	BANP_uc002fkp.2_Missense_Mutation_p.R290C|BANP_uc002fkq.2_Missense_Mutation_p.R290C|BANP_uc010vow.1_Missense_Mutation_p.R328C|BANP_uc002fks.3_Missense_Mutation_p.R289C|BANP_uc002fko.1_Missense_Mutation_p.R226C|BANP_uc010vov.1_Missense_Mutation_p.R295C	NM_079837	NP_524576	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein isoform b	321	Necessary and sufficient for TP53 activation (By similarity).|Interaction with CUX1 and HDAC1 (By similarity).|BEN.				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0				BRCA - Breast invasive adenocarcinoma(80;0.00551)		GGCGTGGCGGCGCAAGCAGCG	0.592												
SNAI3	333929	broad.mit.edu	37	16	88747890	88747890	+	Silent	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:88747890T>C	uc002flj.2	-	2	377	c.309A>G	c.(307-309)GTA>GTG	p.V103V	MGC23284_uc002fli.3_Intron	NM_178310	NP_840101	Q3KNW1	SNAI3_HUMAN	snail homolog 3	103					oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.048)		CTTTGAGGGGTACAATGGCGG	0.697												
FAM57A	79850	broad.mit.edu	37	17	644552	644552	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:644552G>A	uc002frp.2	+	5	557	c.516G>A	c.(514-516)CAG>CAA	p.Q172Q	FAM57A_uc002frq.2_Silent_p.Q140Q|FAM57A_uc002frr.2_Silent_p.Q82Q	NM_024792	NP_079068	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	172	TLC.					integral to membrane|plasma membrane					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		TAAAGCAGCAGCACACCCTTC	0.547												
RNMTL1	55178	broad.mit.edu	37	17	686479	686479	+	Silent	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:686479C>A	uc002frw.2	+	2	577	c.471C>A	c.(469-471)GTC>GTA	p.V157V	GLOD4_uc002fru.2_5'Flank|GLOD4_uc010vqc.1_5'Flank|GLOD4_uc002frv.2_5'Flank	NM_018146	NP_060616	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	157					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		AGTTGCCAGTCGATAAGCTGA	0.463												
SCARF1	8578	broad.mit.edu	37	17	1542125	1542125	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:1542125C>G	uc002fsz.1	-	8	1389	c.1339G>C	c.(1339-1341)GCC>CCC	p.A447P	SCARF1_uc002fsy.1_Missense_Mutation_p.A447P|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Missense_Mutation_p.A361P	NM_003693	NP_003684	Q14162	SREC_HUMAN	scavenger receptor class F, member 1 isoform 1	447	Cytoplasmic (Potential).				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GATCGGGGGGCCCAGCAGCAG	0.667												
SMG6	23293	broad.mit.edu	37	17	2200609	2200609	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:2200609C>T	uc002fub.1	-	4	2134	c.2079G>A	c.(2077-2079)CAG>CAA	p.Q693Q		NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	693					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			central_nervous_system(2)|lung(1)|kidney(1)	4						TGTAAGTAACCTGCAGCTTCT	0.368												
SGSM2	9905	broad.mit.edu	37	17	2282421	2282421	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:2282421C>T	uc002fun.3	+	22	3031	c.2856C>T	c.(2854-2856)CTC>CTT	p.L952L	SGSM2_uc002fum.3_Silent_p.L997L|SGSM2_uc010vqw.1_Silent_p.L952L|SGSM2_uc002fup.1_Silent_p.L130L|SGSM2_uc002fuq.2_Silent_p.L114L	NM_001098509	NP_001091979	O43147	SGSM2_HUMAN	RUN and TBC1 domain containing 1 isoform 2	952						intracellular	Rab GTPase activator activity				0				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		TCATCGCCCTCGCCCTGGTGG	0.537												
RABEP1	9135	broad.mit.edu	37	17	5250183	5250183	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:5250183G>A	uc002gbm.3	+	6	971	c.747G>A	c.(745-747)CAG>CAA	p.Q249Q	RABEP1_uc010clc.1_Silent_p.Q249Q|RABEP1_uc010cld.1_Silent_p.Q206Q|RABEP1_uc010vsw.1_Silent_p.Q206Q|RABEP1_uc002gbl.3_Silent_p.Q249Q	NM_004703	NP_004694	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	249	Potential.				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			large_intestine(1)|ovary(1)	2						CTGTTCTACAGGAAGATGCTG	0.333												
AIPL1	23746	broad.mit.edu	37	17	6331701	6331701	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:6331701G>A	uc002gcp.2	-	3	497	c.402C>T	c.(400-402)TAC>TAT	p.Y134Y	AIPL1_uc002gcq.2_Silent_p.Y74Y|AIPL1_uc002gcr.2_Intron|AIPL1_uc010clk.2_Silent_p.Y112Y|AIPL1_uc010cll.2_Silent_p.Y134Y|AIPL1_uc002gcs.2_Silent_p.Y134Y	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting	134	PPIase FKBP-type.				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding				0				COAD - Colon adenocarcinoma(228;0.141)		CCAGGTCCTCGTAGCCCAGCG	0.662												
PITPNM3	83394	broad.mit.edu	37	17	6380417	6380417	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:6380417C>T	uc002gdd.3	-	9	1168	c.1017G>A	c.(1015-1017)CCG>CCA	p.P339P	PITPNM3_uc010cln.2_Silent_p.P303P|PITPNM3_uc002gdc.3_5'UTR	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	339					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TCTGTTTCCGCGGCAACGGCC	0.582												
DVL2	1856	broad.mit.edu	37	17	7133463	7133463	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:7133463G>T	uc002gez.1	-	4	704	c.422C>A	c.(421-423)TCC>TAC	p.S141Y	DVL2_uc010vtr.1_Intron|DVL2_uc010vts.1_Missense_Mutation_p.S43Y|DVL2_uc010clz.1_Missense_Mutation_p.S141Y	NM_004422	NP_004413	O14641	DVL2_HUMAN	dishevelled 2	141					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			lung(1)|kidney(1)	2						ATGGCTGCTGGACACATTAGG	0.597												
C17orf74	201243	broad.mit.edu	37	17	7329696	7329696	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:7329696G>A	uc002ggw.2	+	3	459	c.386G>A	c.(385-387)CGC>CAC	p.R129H	FGF11_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	hypothetical protein LOC201243	129	Arg-rich.					integral to membrane					0		Prostate(122;0.157)				cgccgccgccgccgccaccgc	0.413												
C17orf74	201243	broad.mit.edu	37	17	7329702	7329702	+	Missense_Mutation	SNP	A	A	G	rs113604978		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:7329702A>G	uc002ggw.2	+	3	465	c.392A>G	c.(391-393)CAC>CGC	p.H131R	FGF11_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	hypothetical protein LOC201243	131	Arg-rich.					integral to membrane					0		Prostate(122;0.157)				cgccgccgccaccgccgttgt	0.423												
POLR2A	5430	broad.mit.edu	37	17	7402445	7402445	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:7402445C>T	uc002ghf.3	+	9	1657	c.1423C>T	c.(1423-1425)CGC>TGC	p.R475C	POLR2A_uc002ghe.2_Missense_Mutation_p.R475C	NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	475					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			pancreas(1)	1		Prostate(122;0.173)				GCATCGGGTCCGCATTCTCCC	0.567												
SENP3	26168	broad.mit.edu	37	17	7469041	7469041	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:7469041A>G	uc002ghm.2	+	6	1496	c.1223A>G	c.(1222-1224)AAC>AGC	p.N408S	EIF4A1_uc002gho.1_5'UTR|SENP3_uc002ghn.1_3'UTR	NM_015670	NP_056485	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific protease 3	408	Protease.				proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			ovary(1)|central_nervous_system(1)	2		Prostate(122;0.157)				CAGGTGATGAACATGTATGGA	0.562												
CHD3	1107	broad.mit.edu	37	17	7794347	7794347	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:7794347G>A	uc002gje.2	+	4	624	c.474G>A	c.(472-474)ACG>ACA	p.T158T	CHD3_uc002gjd.2_Silent_p.T217T|CHD3_uc002gjf.2_Silent_p.T158T|CHD3_uc002gjg.1_5'UTR	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	158					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				ATTACCACACGCTCACCAACT	0.473												
AURKB	9212	broad.mit.edu	37	17	8108286	8108286	+	Missense_Mutation	SNP	G	G	A	rs144169786		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:8108286G>A	uc002gkm.2	-	9	999	c.938C>T	c.(937-939)TCG>TTG	p.S313L	AURKB_uc010cnu.2_Missense_Mutation_p.S133L|AURKB_uc002gkn.2_Missense_Mutation_p.S314L|AURKB_uc010vuu.1_Missense_Mutation_p.S272L|AURKB_uc002gko.2_RNA	NM_004217	NP_004208	Q96GD4	AURKB_HUMAN	aurora kinase B	313	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(1)|central_nervous_system(1)	4						CAGCCGTTCCGAGGGGTTATG	0.632												
KRBA2	124751	broad.mit.edu	37	17	8273299	8273299	+	Missense_Mutation	SNP	C	C	T	rs146158158		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:8273299C>T	uc002glf.1	-	2	638	c.632G>A	c.(631-633)CGC>CAC	p.R211H	KRBA2_uc002glg.1_Missense_Mutation_p.R128H	NM_213597	NP_998762	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	211					DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding				0						CTTGAGCATGCGTGTCCGCCC	0.418												
WDR16	146845	broad.mit.edu	37	17	9536336	9536336	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:9536336G>A	uc002gly.2	+	10	1375	c.1306G>A	c.(1306-1308)GGT>AGT	p.G436S	WDR16_uc002glz.2_Missense_Mutation_p.G368S|WDR16_uc010coc.2_Missense_Mutation_p.G446S	NM_145054	NP_659491	Q8N1V2	WDR16_HUMAN	WD40-repeat protein upregulated in HCC isoform	436	WD 7.					cytoplasm|intracellular membrane-bounded organelle	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4						CATCAGTGGCGGTGGGGAAGG	0.463												
MYH13	8735	broad.mit.edu	37	17	10233779	10233779	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:10233779G>A	uc002gmk.1	-	21	2450	c.2360C>T	c.(2359-2361)ACG>ATG	p.T787M		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	787	IQ.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						TGTCATCAGCGTCACCAGCTT	0.532												
MYH8	4626	broad.mit.edu	37	17	10297588	10297588	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:10297588C>T	uc002gmm.2	-	35	5239	c.5144G>A	c.(5143-5145)CGT>CAT	p.R1715H	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1715	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						GAGCTGGACACGCTCACTGGC	0.512									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling			
MYH2	4620	broad.mit.edu	37	17	10450814	10450814	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:10450814C>T	uc010coi.2	-	4	454	c.326G>A	c.(325-327)CGT>CAT	p.R109H	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R109H|MYH2_uc010coj.2_Missense_Mutation_p.R109H	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	109	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						GGCTGCATAACGTTCTTTGAG	0.483												
MYH3	4621	broad.mit.edu	37	17	10545555	10545555	+	Splice_Site	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:10545555A>G	uc002gmq.1	-	16	2036	c.1959_splice	c.e16+1	p.R653_splice		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,						muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						TATTTTTCTTACCCTGAAAAG	0.383												
HS3ST3B1	9953	broad.mit.edu	37	17	14205007	14205007	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:14205007G>A	uc002goh.1	+	1	502	c.172G>A	c.(172-174)GCG>ACG	p.A58T	MGC12916_uc010vvv.1_5'Flank	NM_006041	NP_006032	Q9Y662	HS3SB_HUMAN	heparan sulfate D-glucosaminyl	58	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		CTGCGCCGCCGCGCCGGGGCT	0.672												
NCOR1	9611	broad.mit.edu	37	17	16024504	16024504	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:16024504G>A	uc002gpo.2	-	16	1954	c.1714C>T	c.(1714-1716)CGA>TGA	p.R572*	NCOR1_uc002gpn.2_Nonsense_Mutation_p.R572*|NCOR1_uc002gpp.1_Nonsense_Mutation_p.R463*|NCOR1_uc002gpr.2_Nonsense_Mutation_p.R463*	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	572					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCAGTCTTTCGCCCCCGGGGT	0.542												
ZNF624	57547	broad.mit.edu	37	17	16527079	16527079	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:16527079C>T	uc010cpi.1	-	6	1204	c.1121G>A	c.(1120-1122)CGT>CAT	p.R374H		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	374	C2H2-type 4; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CTGATTAAGACGGGCACACTG	0.383												
NT5M	56953	broad.mit.edu	37	17	17250123	17250123	+	Silent	SNP	C	C	T	rs142120102	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:17250123C>T	uc002grf.2	+	5	734	c.549C>T	c.(547-549)GCC>GCT	p.A183A	NT5M_uc002gre.2_Intron|NT5M_uc002grg.2_Silent_p.A189A	NM_020201	NP_064586	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial precursor	183					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding				0						CCACAGGGGCCGAGCCAACCC	0.677												
DRG2	1819	broad.mit.edu	37	17	17997255	17997255	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:17997255G>A	uc002gsh.1	+	2	248	c.193G>A	c.(193-195)GTG>ATG	p.V65M	DRG2_uc010vxg.1_Missense_Mutation_p.V65M|DRG2_uc002gsi.1_RNA|DRG2_uc002gsj.1_Missense_Mutation_p.V65M	NM_001388	NP_001379	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	65					signal transduction		GTP binding			ovary(1)	1	all_neural(463;0.228)					TGATGCCCGTGTGGCGCTGAT	0.557												
MYO15A	51168	broad.mit.edu	37	17	18022483	18022483	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:18022483C>T	uc010vxh.1	+	2	707	c.369C>T	c.(367-369)CGC>CGT	p.R123R		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	123	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)					TGCGGCCGCGCGCCCGGTCAC	0.642												
MYO15A	51168	broad.mit.edu	37	17	18034563	18034563	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:18034563C>G	uc010vxh.1	+	8	4387	c.4049C>G	c.(4048-4050)GCA>GGA	p.A1350G		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	1350	Myosin head-like.|Potential.				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)					ATCCTGGAGGCAACACCCCTC	0.562												
FAM83G	644815	broad.mit.edu	37	17	18881325	18881325	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:18881325C>T	uc002guw.2	-	5	1821	c.1654G>A	c.(1654-1656)GCC>ACC	p.A552T	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	552										ovary(1)|central_nervous_system(1)	2						TGGAGTGGGGCGTGGCCTGGG	0.622												
CYTSB	92521	broad.mit.edu	37	17	20000031	20000031	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:20000031C>T	uc002gwq.2	+	2	212	c.67C>T	c.(67-69)CGG>TGG	p.R23W	CYTSB_uc010cqx.2_Missense_Mutation_p.R23W|CYTSB_uc002gwr.2_Missense_Mutation_p.R23W|CYTSB_uc002gws.2_Missense_Mutation_p.R23W	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	23						nucleus					0						AGACCGGGTGCGGCCTCTGCC	0.582												
USP22	23326	broad.mit.edu	37	17	20921419	20921419	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:20921419G>A	uc002gym.3	-	5	730	c.526C>T	c.(526-528)CGT>TGT	p.R176C	USP22_uc002gyn.3_Missense_Mutation_p.R164C|USP22_uc002gyl.3_Missense_Mutation_p.R71C	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN	ubiquitin thiolesterase 22	176					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1						ATCAGCCCACGCAGACCTGGA	0.552												
WSB1	26118	broad.mit.edu	37	17	25630634	25630634	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:25630634C>T	uc002gzd.1	+	3	767	c.451C>T	c.(451-453)CGT>TGT	p.R151C	WSB1_uc010vzy.1_Missense_Mutation_p.R151C|WSB1_uc010vzz.1_Missense_Mutation_p.R120C|WSB1_uc010crf.1_Intron|WSB1_uc002gze.1_Intron|WSB1_uc002gzf.1_RNA	NM_015626	NP_056441	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box-containing 1 isoform 1	151	WD 2.				intracellular signal transduction	intracellular	protein binding				0	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GAACAATGGGCGTATCAAAAT	0.378												
SUPT6H	6830	broad.mit.edu	37	17	27002046	27002046	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:27002046A>G	uc002hby.2	+	5	494	c.404A>G	c.(403-405)TAT>TGT	p.Y135C	SUPT6H_uc010crt.2_Missense_Mutation_p.Y135C	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	135	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					GAGGAGGAATATGGCAAGGAG	0.517												
TRAF4	9618	broad.mit.edu	37	17	27076100	27076100	+	Silent	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:27076100T>C	uc002hcs.2	+	7	1026	c.918T>C	c.(916-918)AGT>AGC	p.S306S	TRAF4_uc002hcq.1_Intron	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	306	Potential.				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			upper_aerodigestive_tract(1)|lung(1)	2	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			CAGTGGGCAGTGATGGCGTGC	0.607												
TAOK1	57551	broad.mit.edu	37	17	27849338	27849338	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:27849338C>T	uc002hdz.1	+	17	2143	c.1949C>T	c.(1948-1950)GCC>GTC	p.A650V	TAOK1_uc010wbe.1_Intron|TAOK1_uc010wbf.1_Missense_Mutation_p.A650V	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	650	Potential.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)			TTAGAGCATGCCATGCTACTC	0.408												
ABHD15	116236	broad.mit.edu	37	17	27889799	27889799	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:27889799C>T	uc002hed.1	-	2	1251	c.1187G>A	c.(1186-1188)CGC>CAC	p.R396H		NM_198147	NP_937790	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15 precursor	396						extracellular region	carboxylesterase activity				0						GGGCTCCTGGCGCAGGAAGCC	0.592												
SLC6A4	6532	broad.mit.edu	37	17	28548814	28548814	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:28548814C>T	uc002hey.3	-	3	707	c.163G>A	c.(163-165)GCG>ACG	p.A55T		NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	55	Cytoplasmic (Potential).				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			skin(3)|ovary(1)	4					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	TCATCTCCCGCACCAGGACTT	0.557												
SLFN5	162394	broad.mit.edu	37	17	33586029	33586029	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:33586029G>A	uc002hjf.3	+	2	437	c.320G>A	c.(319-321)GGT>GAT	p.G107D	SLFN5_uc002hje.2_Missense_Mutation_p.G107D|SLFN5_uc010wcg.1_Missense_Mutation_p.G107D	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	schlafen family member 5	107					cell differentiation		ATP binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ACAGAGGCTGGTGTGCCACTT	0.438												
CCL16	6360	broad.mit.edu	37	17	34305185	34305185	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:34305185G>A	uc002hkl.2	-	2	258	c.191C>T	c.(190-192)GCA>GTA	p.A64V	CCL16_uc002hkm.2_RNA	NM_004590	NP_004581	O15467	CCL16_HUMAN	small inducible cytokine A16 precursor	64					cell-cell signaling|immune response|inflammatory response	extracellular space	chemoattractant activity|chemokine activity				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTACATGATTGCTGGCAGGTG	0.498												
CCL15	6359	broad.mit.edu	37	17	34325931	34325931	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:34325931A>C	uc010wcu.1	-	2	676	c.107T>G	c.(106-108)CTT>CGT	p.L36R	CCL14-CCL15_uc010wcs.1_RNA|CCL14-CCL15_uc010wct.1_RNA	NM_032965	NP_116741	Q16663	CCL15_HUMAN	chemokine (C-C motif) ligand 15 precursor	36					cell-cell signaling|cellular calcium ion homeostasis|immune response	extracellular space	chemoattractant activity|chemokine activity|heparin binding|signal transducer activity			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTCCAGTGGAAGCTTTGACAT	0.458												
CCL18	6362	broad.mit.edu	37	17	34398397	34398397	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:34398397C>T	uc002hku.2	+	3	326	c.266C>T	c.(265-267)GCC>GTC	p.A89V		NM_002988	NP_002979	P55774	CCL18_HUMAN	small inducible cytokine A18 precursor	89					cell-cell signaling|chemotaxis|immune response|inflammatory response|response to biotic stimulus|signal transduction	extracellular space	chemokine activity				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AAGCTGAATGCCTGAGGGGCC	0.612												
AATF	26574	broad.mit.edu	37	17	35346004	35346004	+	Silent	SNP	T	T	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:35346004T>A	uc002hni.2	+	6	1385	c.1134T>A	c.(1132-1134)TCT>TCA	p.S378S	AATF_uc002hnj.2_RNA	NM_012138	NP_036270	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	378	RB1 and SP1 binding.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity				0		Breast(25;0.00607)				AACTGGCTTCTGGAAAACTGG	0.458												
ACACA	31	broad.mit.edu	37	17	35549074	35549074	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:35549074A>C	uc002hnm.2	-	37	4453	c.4262T>G	c.(4261-4263)TTC>TGC	p.F1421C	ACACA_uc002hnk.2_Missense_Mutation_p.F1343C|ACACA_uc002hnl.2_Missense_Mutation_p.F1363C|ACACA_uc002hnn.2_Missense_Mutation_p.F1421C|ACACA_uc002hno.2_Missense_Mutation_p.F1458C|ACACA_uc010cuy.2_Missense_Mutation_p.F115C	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1421					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ACGAACAAAGAACCTGTAGTC	0.473												
HNF1B	6928	broad.mit.edu	37	17	36059100	36059100	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:36059100G>A	uc002hok.3	-	8	1856	c.1635C>T	c.(1633-1635)AAC>AAT	p.N545N	HNF1B_uc010wdi.1_Silent_p.N519N	NM_000458	NP_000449	P35680	HNF1B_HUMAN	hepatocyte nuclear factor 1-beta isoform 1	545					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)	3		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TTGAAGACATGTTGGTGAGTG	0.537									Hereditary_Prostate_Cancer			
GPR179	440435	broad.mit.edu	37	17	36484063	36484063	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:36484063T>C	uc002hpz.2	-	11	5410	c.5389A>G	c.(5389-5391)AGG>GGG	p.R1797G		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1797	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCACCTGGCCTGCAGCCCATA	0.557												
PCGF2	7703	broad.mit.edu	37	17	36895356	36895356	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:36895356C>T	uc002hqp.1	-	6	524	c.281G>A	c.(280-282)CGG>CAG	p.R94Q	PCGF2_uc002hqn.1_Missense_Mutation_p.R94Q|PCGF2_uc002hqo.1_Missense_Mutation_p.R94Q|PCGF2_uc010cvo.1_5'UTR|PCGF2_uc002hqq.1_Missense_Mutation_p.R94Q	NM_007144	NP_009075	P35227	PCGF2_HUMAN	ring finger protein 110	94	Nuclear localization signal (Potential).				negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|skin(1)	2	Breast(7;9.07e-22)					GAAATCCCGCCGCCGTTTCAT	0.562												
PIP4K2B	8396	broad.mit.edu	37	17	36927329	36927329	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:36927329C>T	uc002hqs.2	-	8	1485	c.1004G>A	c.(1003-1005)CGG>CAG	p.R335Q	PIP4K2B_uc010cvp.2_5'Flank	NM_003559	NP_003550	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	335	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			ovary(1)	1						ACCAAAGAACCGAGGAAAGCT	0.527												
MED1	5469	broad.mit.edu	37	17	37566787	37566787	+	Missense_Mutation	SNP	G	G	A	rs1139822		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:37566787G>A	uc002hrv.3	-	17	1899	c.1687C>T	c.(1687-1689)CCA>TCA	p.P563S	MED1_uc010wee.1_Missense_Mutation_p.P391S|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	563	Interaction with ESR1.|Interaction with THRA.|Interaction with VDR.|Interaction with the Mediator complex and THRA.			P -> S (in Ref. 1; CAA73867 and 7; AAF98352).	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)		GTGTTGGTTGGTGTAGTGGTA	0.532										HNSCC(31;0.082)		
CDK12	51755	broad.mit.edu	37	17	37627211	37627211	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:37627211A>G	uc010cvv.2	+	2	1712	c.1126A>G	c.(1126-1128)AGT>GGT	p.S376G	CDK12_uc010wef.1_Missense_Mutation_p.S375G|CDK12_uc002hrw.3_Missense_Mutation_p.S376G	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	376					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						GAAGAGATCCAGTTCACGCAG	0.423										TCGA Ovarian(9;0.13)		
WIPF2	147179	broad.mit.edu	37	17	38430168	38430168	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:38430168C>T	uc002hug.1	+	6	1337	c.1097C>T	c.(1096-1098)ACG>ATG	p.T366M	WIPF2_uc002huh.1_Missense_Mutation_p.T216M|WIPF2_uc010cww.1_Missense_Mutation_p.T216M|WIPF2_uc002hui.1_Missense_Mutation_p.T366M|WIPF2_uc010cwx.1_Missense_Mutation_p.T108M|WIPF2_uc010cwy.1_Missense_Mutation_p.T366M	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN	WIRE protein	366						cytoplasm|cytoskeleton	actin binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						CCCTCAAGGACGCCAGCTGGG	0.622										HNSCC(43;0.11)		
RARA	5914	broad.mit.edu	37	17	38506123	38506123	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:38506123C>A	uc002huk.1	+	4	870	c.415C>A	c.(415-417)CGC>AGC	p.R139S	RARA_uc002hul.3_Missense_Mutation_p.R139S|RARA_uc010wfe.1_Intron|RARA_uc002hun.1_Missense_Mutation_p.R134S	NM_000964	NP_000955	P10276	RARA_HUMAN	retinoic acid receptor, alpha isoform 1	139	Nuclear receptor.|NR C4-type.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GACCCGGAACCGCTGCCAGTA	0.587			T	PML|ZNF145|TIF1|NUMA1|NPM1	APL							
TNS4	84951	broad.mit.edu	37	17	38645087	38645087	+	Nonsense_Mutation	SNP	G	G	A	rs146714186		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:38645087G>A	uc010cxb.2	-	3	738	c.574C>T	c.(574-576)CGA>TGA	p.R192*		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	tensin 4 precursor	192	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)			CGTGTCTCTCGGGGGACGTCT	0.672												
KRT10	3858	broad.mit.edu	37	17	38975866	38975866	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:38975866C>A	uc002hvi.2	-	6	1302	c.1276G>T	c.(1276-1278)GAG>TAG	p.E426*	KRT10_uc010cxd.2_RNA|TMEM99_uc002hvj.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	keratin 10	426	Rod.|Gly-rich.|Coil 2.				epidermis development		protein binding|structural constituent of epidermis				0		Breast(137;0.000301)				TTCTGGCACTCGGTTTCAGCT	0.483												
GHDC	84514	broad.mit.edu	37	17	40344470	40344470	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:40344470G>A	uc002hzd.2	-	4	1162	c.678C>T	c.(676-678)GCC>GCT	p.A226A	GHDC_uc002hzg.1_Silent_p.A226A|GHDC_uc010wgg.1_Silent_p.A187A|GHDC_uc002hze.3_Silent_p.A226A|GHDC_uc002hzf.3_Silent_p.A226A|GHDC_uc010cxz.2_RNA	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	LGP1 homolog isoform 1	226						endoplasmic reticulum|nuclear envelope					0		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CAGGGTTCCCGGCAGCTATCG	0.657												
TUBG1	7283	broad.mit.edu	37	17	40766006	40766006	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:40766006C>T	uc002ian.2	+	8	1231	c.833C>T	c.(832-834)ACG>ATG	p.T278M		NM_001070	NP_001061	P23258	TBG1_HUMAN	tubulin, gamma 1	278					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			ovary(1)	1		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		CCTCTCACTACGGACCAGTCA	0.617												
CNTNAP1	8506	broad.mit.edu	37	17	40843896	40843896	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:40843896G>A	uc002iay.2	+	16	2633	c.2417G>A	c.(2416-2418)AGC>AAC	p.S806N	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	806	Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GCCAACCACAGCCTGGATGTC	0.572												
EZH1	2145	broad.mit.edu	37	17	40854922	40854922	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:40854922G>A	uc002iaz.2	-	20	2301	c.2156C>T	c.(2155-2157)GCT>GTT	p.A719V	EZH1_uc002iba.2_Missense_Mutation_p.A710V|EZH1_uc010wgt.1_Missense_Mutation_p.A649V|EZH1_uc010wgu.1_Missense_Mutation_p.A725V|EZH1_uc010wgv.1_Missense_Mutation_p.A679V|EZH1_uc010wgw.1_Missense_Mutation_p.A580V	NM_001991	NP_001982	Q92800	EZH1_HUMAN	enhancer of zeste homolog 1	719	SET.			VVMVNGDHRIGIFAKRAIQAGEELFFDYRYSQADALKYVGI ERETDVL -> GESQ (in Ref. 2; BAA25019).	anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			ovary(3)	3		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CTCTTCGCCAGCTTGAATTGC	0.512												
WNK4	65266	broad.mit.edu	37	17	40939342	40939342	+	Missense_Mutation	SNP	G	G	A	rs55997156	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:40939342G>A	uc002ibj.2	+	7	1544	c.1523G>A	c.(1522-1524)CGT>CAT	p.R508H	WNK4_uc010wgx.1_Missense_Mutation_p.R172H|WNK4_uc002ibk.1_Missense_Mutation_p.R280H|WNK4_uc010wgy.1_Translation_Start_Site	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	508					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCAGTGGCCCGTGCAGTACGT	0.587												
BECN1	8678	broad.mit.edu	37	17	40965966	40965966	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:40965966C>G	uc002ibo.3	-	10	1176	c.1041G>C	c.(1039-1041)AAG>AAC	p.K347N	BECN1_uc010whb.1_Missense_Mutation_p.K260N|BECN1_uc010whc.1_Missense_Mutation_p.K271N|BECN1_uc002ibn.2_Missense_Mutation_p.K347N	NM_003766	NP_003757	Q14457	BECN1_HUMAN	beclin 1	347					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			ovary(1)	1		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CACAGAGTACCTTAGATTTGT	0.358												
RUNDC1	146923	broad.mit.edu	37	17	41142424	41142424	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:41142424G>A	uc002ici.1	+	4	959	c.947G>A	c.(946-948)AGC>AAC	p.S316N	RUNDC1_uc010whi.1_Missense_Mutation_p.S86N	NM_173079	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	316											0		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		AGAACAGGCAGCAGCAGAACG	0.388												
UBTF	7343	broad.mit.edu	37	17	42284915	42284915	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:42284915T>A	uc002igb.2	-	19	2143	c.2076A>T	c.(2074-2076)GAA>GAT	p.E692D	UBTF_uc002igc.2_Missense_Mutation_p.E655D|UBTF_uc010czs.2_Missense_Mutation_p.E692D|UBTF_uc002igd.2_Missense_Mutation_p.E655D|UBTF_uc010czt.2_Missense_Mutation_p.E692D	NM_014233	NP_055048	P17480	UBF1_HUMAN	upstream binding transcription factor, RNA	692	Asp/Glu/Ser-rich (acidic).				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		cttcctcttcttcatcctcgt	0.433												
HEXIM1	10614	broad.mit.edu	37	17	43227260	43227260	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:43227260G>A	uc002iig.2	+	1	2577	c.703G>A	c.(703-705)GAC>AAC	p.D235N		NM_006460	NP_006451	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	235	Autoinhibitory acidic region; in absence of 7SK snRNA interacts with the basic region preventing interaction with P-TEFb and modulating subcellular localization.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			ovary(1)	1						CAAATCCGACGACACCAGCGA	0.612												
B4GALNT2	124872	broad.mit.edu	37	17	47210502	47210502	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:47210502G>A	uc002ion.2	+	1	174	c.115G>A	c.(115-117)GGG>AGG	p.G39R	B4GALNT2_uc010wlt.1_Intron|B4GALNT2_uc010wlu.1_Intron	NM_153446	NP_703147	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	39	Cytoplasmic (Potential).				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			large_intestine(1)|ovary(1)	2			all cancers(6;0.000316)			TGCGGGCTTCGGGGCTCTCTG	0.677												
NGFR	4804	broad.mit.edu	37	17	47590364	47590364	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:47590364C>T	uc002ioz.3	+	6	1402	c.1277C>T	c.(1276-1278)CCG>CTG	p.P426L		NM_002507	NP_002498	P08138	TNR16_HUMAN	nerve growth factor receptor precursor	426	Cytoplasmic (Potential).				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				ovary(1)|lung(1)	2	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GCCACATCCCCGGTGTGAGCC	0.711												
RSAD1	55316	broad.mit.edu	37	17	48560736	48560736	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:48560736G>T	uc002iqw.1	+	6	996	c.940G>T	c.(940-942)GGC>TGC	p.G314C	RSAD1_uc010wmq.1_RNA	NM_018346	NP_060816	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing	314					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding				0	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GGGGGCTGGAGGCCACACCCG	0.552												
SPATA20	64847	broad.mit.edu	37	17	48628888	48628888	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:48628888C>T	uc002irf.2	+	12	1686	c.1545C>T	c.(1543-1545)GGC>GGT	p.G515G	SPATA20_uc002irc.2_Silent_p.G182G|SPATA20_uc002ire.2_Silent_p.G471G|SPATA20_uc002ird.2_Silent_p.G531G|SPATA20_uc002irg.2_RNA	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	515					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding				0	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			TGGTGTCAGGCTATGCTGTGA	0.567												
ABCC3	8714	broad.mit.edu	37	17	48735816	48735816	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:48735816C>T	uc002isl.2	+	6	713	c.633C>T	c.(631-633)AGC>AGT	p.S211S	ABCC3_uc002isk.3_Silent_p.S211S	NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	211	Cytoplasmic (By similarity).				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CTGAGACCAGCGCTGGCTTTC	0.582												
KIF2B	84643	broad.mit.edu	37	17	51901779	51901779	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:51901779G>A	uc002iua.2	+	1	1541	c.1385G>A	c.(1384-1386)CGG>CAG	p.R462Q	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	462	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						AAGGCCAGCCGGAAAAGGCAG	0.483												
STXBP4	252983	broad.mit.edu	37	17	53158486	53158486	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:53158486G>A	uc002iuf.1	+	16	1638	c.1431G>A	c.(1429-1431)ACG>ACA	p.T477T	STXBP4_uc010dcd.1_Silent_p.T455T	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	477						cytoplasm	calcium ion binding			ovary(1)	1						TCCCAGCAACGCTGGCGCTTG	0.383												
DGKE	8526	broad.mit.edu	37	17	54939226	54939226	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:54939226C>T	uc002iur.2	+	10	1539	c.1359C>T	c.(1357-1359)GGC>GGT	p.G453G	DGKE_uc002ius.1_Silent_p.G453G	NM_003647	NP_003638	P52429	DGKE_HUMAN	diacylglycerol kinase epsilon	453	Helical; (Potential).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(2)	2	Breast(9;3.59e-07)					GATACTGGGGCGGTGGCTGCA	0.433												
OR4D2	124538	broad.mit.edu	37	17	56247177	56247177	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:56247177A>G	uc010wnp.1	+	1	161	c.161A>G	c.(160-162)CAG>CGG	p.Q54R		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D,	54	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2						TCTGATTCCCAGCTCCACACA	0.488												
C17orf47	284083	broad.mit.edu	37	17	56620148	56620148	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:56620148C>A	uc002iwq.1	-	1	1536	c.1400G>T	c.(1399-1401)AGC>ATC	p.S467I	SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	hypothetical protein LOC284083	467										breast(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACAGAAAGGGCTAGAGTCTAT	0.473												
SKA2	348235	broad.mit.edu	37	17	57189647	57189647	+	Silent	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:57189647T>C	uc002ixd.2	-	4	633	c.357A>G	c.(355-357)CCA>CCG	p.P119P	uc002ixb.2_Intron|SKA2_uc002ixc.2_RNA|SKA2_uc010dde.1_3'UTR|SKA2_uc002ixe.2_RNA	NM_182620	NP_872426	Q8WVK7	SKA2_HUMAN	spindle and KT associated 2 isoform 1	119					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding				0						TTCATAAATCTGGCATGTGAA	0.343												
PTRH2	51651	broad.mit.edu	37	17	57775153	57775153	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:57775153C>T	uc002ixt.2	-	2	312	c.187G>A	c.(187-189)GGG>AGG	p.G63R	PTRH2_uc002ixs.2_RNA	NM_016077	NP_057161	Q9Y3E5	PTH2_HUMAN	Bcl-2 inhibitor of transcription precursor	63					apoptosis|translation	mitochondrion	aminoacyl-tRNA hydrolase activity				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTGTACTCCCCGCTGTCTCCC	0.498												
TBX2	6909	broad.mit.edu	37	17	59482855	59482855	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:59482855G>A	uc010wox.1	+	6	1625	c.1344G>A	c.(1342-1344)GCG>GCA	p.A448A	TBX2_uc002ize.2_3'UTR|TBX2_uc002izg.2_Silent_p.A294A	NM_005994	NP_005985	Q13207	TBX2_HUMAN	T-box 2	448					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding				0						AGGGCCTGGCGCCGCTGGTGG	0.711												
MED13	9969	broad.mit.edu	37	17	60072703	60072703	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:60072703G>T	uc002izo.2	-	10	2068	c.1991C>A	c.(1990-1992)CCT>CAT	p.P664H		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	664					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						AACTTTTAAAGGTTTCTTACA	0.279												
ACE	1636	broad.mit.edu	37	17	61560033	61560033	+	Missense_Mutation	SNP	G	G	A	rs35865660	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:61560033G>A	uc002jau.1	+	8	1347	c.1325G>A	c.(1324-1326)CGT>CAT	p.R442H	ACE_uc010wpi.1_Missense_Mutation_p.R442H|ACE_uc010ddu.1_Missense_Mutation_p.R259H|ACE_uc002jav.1_5'Flank|ACE_uc010ddv.1_5'Flank|ACE_uc010wpj.1_5'Flank|ACE_uc002jaw.1_5'Flank|ACE_uc010wpk.1_5'Flank	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	442	Extracellular (Potential).|Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CTGCTGGACCGTGTCACCAAT	0.647												
STRADA	92335	broad.mit.edu	37	17	61788193	61788193	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:61788193C>T	uc002jbm.2	-	7	511	c.352G>A	c.(352-354)GAG>AAG	p.E118K	STRADA_uc002jbn.2_Missense_Mutation_p.E60K|STRADA_uc002jbo.2_Missense_Mutation_p.E81K|STRADA_uc002jbp.2_Missense_Mutation_p.E81K|STRADA_uc002jbq.2_Missense_Mutation_p.E60K|STRADA_uc010wpq.1_Missense_Mutation_p.E74K|STRADA_uc010wpr.1_Missense_Mutation_p.E89K|STRADA_uc010ddw.2_Missense_Mutation_p.E89K|STRADA_uc002jbr.2_Missense_Mutation_p.E60K	NM_001003787	NP_001003787	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha isoform 1	118	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|kinase binding|protein kinase activity			ovary(1)	1						ACATGCAGCTCGCCCTGGAAG	0.498												
FTSJ3	117246	broad.mit.edu	37	17	61897668	61897668	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:61897668T>C	uc002jbz.2	-	18	2281	c.2203A>G	c.(2203-2205)AAT>GAT	p.N735D	FTSJ3_uc002jca.2_Missense_Mutation_p.N735D	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3	735					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			ovary(1)	1						GGACGTGCATTGATTTCCCGC	0.557												
SCN4A	6329	broad.mit.edu	37	17	62019051	62019051	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:62019051C>T	uc002jds.1	-	24	4668	c.4591G>A	c.(4591-4593)GAG>AAG	p.E1531K		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1531	IV.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	GTGGTGATCTCGAACAGGCAG	0.587												
SCN4A	6329	broad.mit.edu	37	17	62024461	62024461	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:62024461G>A	uc002jds.1	-	18	3462	c.3385C>T	c.(3385-3387)CGG>TGG	p.R1129W		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1129	III.|Helical; Voltage-sensor; Name=S4 of repeat III; (Potential).		R -> Q (in NKPP and HOKPP2; detected in a family where three affected members manifested hypokalemic periodic paralysis whereas five other patients had normokalemic periodic paralysis).		muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	CGCAGTGTCCGCAGGGATTTG	0.667											OREG0024655	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DDX5	1655	broad.mit.edu	37	17	62496890	62496890	+	Silent	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:62496890A>G	uc002jek.2	-	12	1465	c.1218T>C	c.(1216-1218)GAT>GAC	p.D406D	DDX5_uc010deh.2_Silent_p.D406D|DDX5_uc002jej.2_Silent_p.D301D|DDX5_uc010wqa.1_Silent_p.D327D	NM_004396	NP_004387	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5	406	Helicase C-terminal.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			ovary(2)|lung(1)	3	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CATCTTCCACATCTGTAAGGT	0.398			T	ETV4	prostate							
KPNA2	3838	broad.mit.edu	37	17	66038442	66038442	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:66038442G>A	uc002jgk.2	+	5	676	c.544G>A	c.(544-546)GCT>ACT	p.A182T	KPNA2_uc002jgl.2_Missense_Mutation_p.A182T	NM_002266	NP_002257	P52292	IMA2_HUMAN	karyopherin alpha 2	182	NLS binding site (major) (By similarity).|ARM 3.				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			central_nervous_system(2)	2	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGTGAACAAGCTGTCTGGGC	0.443												
ABCA6	23460	broad.mit.edu	37	17	67075398	67075398	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:67075398T>C	uc002jhw.1	-	38	4880	c.4705A>G	c.(4705-4707)AAC>GAC	p.N1569D		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6	1569					transport	integral to membrane	ATP binding|ATPase activity			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Breast(10;5.65e-12)					AGGTTAAAGTTATGCTTCACT	0.313												
KCNJ16	3773	broad.mit.edu	37	17	68129031	68129031	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:68129031G>A	uc002jin.2	+	5	1289	c.803G>A	c.(802-804)CGC>CAC	p.R268H	KCNJ16_uc002jio.2_Missense_Mutation_p.R268H|KCNJ16_uc002jip.2_Missense_Mutation_p.R268H|KCNJ16_uc002jiq.2_Missense_Mutation_p.R300H	NM_018658	NP_061128	Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel J16	268	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(1)|central_nervous_system(1)|skin(1)	3	Breast(10;2.96e-09)					GCCCTTGACCGCAAAGCAGTA	0.428												
KIAA0195	9772	broad.mit.edu	37	17	73484941	73484941	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:73484941G>A	uc002jnz.3	+	7	989	c.714G>A	c.(712-714)CAG>CAA	p.Q238Q	KIAA0195_uc010wsa.1_Silent_p.Q248Q|KIAA0195_uc010wsb.1_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	238					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGAGCCCCCAGCAGCACCGGC	0.632												
EVPL	2125	broad.mit.edu	37	17	74003238	74003238	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:74003238C>A	uc002jqi.2	-	22	6276	c.6048G>T	c.(6046-6048)GAG>GAT	p.E2016D	EVPL_uc010wss.1_Missense_Mutation_p.E2038D|EVPL_uc010wst.1_Missense_Mutation_p.E1486D	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	2016	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						AGCGGTACCCCTCCAGTGCCG	0.687												
GALR2	8811	broad.mit.edu	37	17	74073381	74073381	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:74073381A>G	uc002jqm.1	+	2	1114	c.1033A>G	c.(1033-1035)ATG>GTG	p.M345V	ZACN_uc002jqn.2_5'Flank|ZACN_uc002jqo.2_5'Flank|ZACN_uc010dgu.2_5'Flank	NM_003857	NP_003848	O43603	GALR2_HUMAN	galanin receptor 2	345	Cytoplasmic (Potential).				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity				0						CCTGTTGCACATGAGCGAGGC	0.741												
LGALS3BP	3959	broad.mit.edu	37	17	76968444	76968444	+	Silent	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:76968444G>T	uc002jwh.2	-	6	1151	c.972C>A	c.(970-972)GCC>GCA	p.A324A	LGALS3BP_uc002jwi.2_Silent_p.A130A|LGALS3BP_uc010dhr.2_Silent_p.A130A	NM_005567	NP_005558	Q08380	LG3BP_HUMAN	galectin 3 binding protein	324	BACK.				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			central_nervous_system(3)|ovary(1)	4			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AGGTGTCCACGGCCTTCAGTA	0.672												
CARD14	79092	broad.mit.edu	37	17	78176119	78176119	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:78176119G>A	uc002jxw.1	+	15	2314	c.2119G>A	c.(2119-2121)GAC>AAC	p.D707N	CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Missense_Mutation_p.D707N|CARD14_uc010wud.1_RNA	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	707					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)			GCACGTCACCGACACCATGTT	0.622												
AATK	9625	broad.mit.edu	37	17	79108237	79108237	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:79108237G>A	uc010dia.2	-	2	200	c.120C>T	c.(118-120)TCC>TCT	p.S40S	MIR1250_hsa-mir-1250|MI0006385_5'Flank	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	40	Helical; (Potential).					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1)	9	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CGAAGAGCCCGGAGAAAGACA	0.667												
SLC38A10	124565	broad.mit.edu	37	17	79234093	79234093	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:79234093G>A	uc002jzz.1	-	11	1608	c.1233C>T	c.(1231-1233)GGC>GGT	p.G411G	SLC38A10_uc002jzy.1_Silent_p.G329G|SLC38A10_uc002kab.2_Silent_p.G411G	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10 isoform a	411					amino acid transport|sodium ion transport	integral to membrane				pancreas(1)|skin(1)	2	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CAAGCCGGCCGCCAGGGGCTT	0.657												
C17orf70	80233	broad.mit.edu	37	17	79514275	79514275	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:79514275G>A	uc002kaq.2	-	5	1888	c.1833C>T	c.(1831-1833)GGC>GGT	p.G611G	C17orf70_uc002kao.1_Silent_p.G260G|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Silent_p.G460G	NM_001109760	NP_001103230	Q0VG06	FP100_HUMAN	Fanconi anemia core complex 100 kDa subunit	611					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)			CAAGGGCCCCGCCCACCACCT	0.677												
SMCHD1	23347	broad.mit.edu	37	18	2775770	2775770	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:2775770G>A	uc002klm.3	+	42	5403	c.5214G>A	c.(5212-5214)GCG>GCA	p.A1738A	SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	1738					chromosome organization		ATP binding				0						ATAGAGCTGCGATGGTTATTT	0.373												
GNAL	2774	broad.mit.edu	37	18	11876645	11876645	+	Silent	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:11876645C>A	uc010dkz.2	+	12	1203	c.957C>A	c.(955-957)CCC>CCA	p.P319P	GNAL_uc002kqc.2_Silent_p.P396P|GNAL_uc002kqd.2_Silent_p.P319P|GNAL_uc010wzt.1_Silent_p.P112P	NM_001142339	NP_001135811	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein),	319					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1						GAGAAGATCCCAAAGTTACAA	0.358												
SPIRE1	56907	broad.mit.edu	37	18	12506563	12506563	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:12506563G>A	uc002kre.2	-	6	932	c.885C>T	c.(883-885)AAC>AAT	p.N295N	SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Silent_p.N175N|SPIRE1_uc010wzx.1_Silent_p.N98N|SPIRE1_uc010wzy.1_Silent_p.N295N	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN	spire homolog 1 isoform a	295						cytoskeleton|perinuclear region of cytoplasm	actin binding				0						TGGGCAAAGGGTTGTACTGCC	0.448												
NPC1	4864	broad.mit.edu	37	18	21115622	21115622	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:21115622G>A	uc002kum.3	-	22	3562	c.3288C>T	c.(3286-3288)GAC>GAT	p.D1096D	NPC1_uc010dlu.1_5'Flank|NPC1_uc010xaz.1_Silent_p.D829D	NM_000271	NP_000262	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1 precursor	1096					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			ovary(2)	2	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGATAGTGTCGTCAATGATGG	0.537												
DSC2	1824	broad.mit.edu	37	18	28666590	28666590	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:28666590C>T	uc002kwl.3	-	7	1345	c.891G>A	c.(889-891)ATG>ATA	p.M297I	DSC2_uc002kwk.3_Missense_Mutation_p.M297I	NM_024422	NP_077740	Q02487	DSC2_HUMAN	desmocollin 2 isoform Dsc2a preproprotein	297	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TAGTTGGATGCATAGAAAATA	0.453												
KIAA1012	22878	broad.mit.edu	37	18	29488794	29488794	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:29488794G>A	uc002kxc.3	-	7	1409	c.1045C>T	c.(1045-1047)CGA>TGA	p.R349*	KIAA1012_uc002kxb.3_Nonsense_Mutation_p.R295*|KIAA1012_uc002kxd.3_RNA|KIAA1012_uc002kxe.2_Nonsense_Mutation_p.R349*	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	hypothetical protein LOC22878	349					ER to Golgi vesicle-mediated transport	cis-Golgi network					0						ATAAACTGTCGAATTCTATCA	0.338												
NOL4	8715	broad.mit.edu	37	18	31803175	31803175	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:31803175A>G	uc010dmi.2	-	1	272	c.43T>C	c.(43-45)TGC>CGC	p.C15R	NOL4_uc002kxr.3_5'Flank|NOL4_uc010xbt.1_5'Flank|NOL4_uc010dmh.2_5'Flank|NOL4_uc010xbu.1_Missense_Mutation_p.C15R|NOL4_uc002kxt.3_Missense_Mutation_p.C15R	NM_003787	NP_003778	O94818	NOL4_HUMAN	nucleolar protein 4	15						nucleolus	RNA binding			ovary(3)	3						GTCCTGAGGCACCAGTCCTGG	0.622												
SLC14A2	8170	broad.mit.edu	37	18	43224100	43224100	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:43224100C>T	uc010dnj.2	+	11	1647	c.1326C>T	c.(1324-1326)AGC>AGT	p.S442S	SLC14A2_uc002lbb.2_Silent_p.S442S|SLC14A2_uc002lbe.2_Silent_p.S442S	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	442						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						CAGTGAAAAGCGGTGAAGAAG	0.547												
TCEB3B	51224	broad.mit.edu	37	18	44560047	44560047	+	Missense_Mutation	SNP	C	C	T	rs151198704		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:44560047C>T	uc002lcr.1	-	1	1942	c.1589G>A	c.(1588-1590)CGC>CAC	p.R530H	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	530	Activation domain (By similarity).|Interacting with Elongin BC complex (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						ACACTGCTGGCGCAGCGTCGG	0.622												
KATNAL2	83473	broad.mit.edu	37	18	44625662	44625662	+	Silent	SNP	C	C	T	rs138624868	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:44625662C>T	uc002lco.2	+	13	1238	c.1044C>T	c.(1042-1044)GTC>GTT	p.V348V	KATNAL2_uc002lcp.3_Silent_p.V275V	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	420						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						GGATTCTGGTCGATCTCCCCA	0.587												
HDHD2	84064	broad.mit.edu	37	18	44641701	44641701	+	Silent	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:44641701T>C	uc002lcs.2	-	5	547	c.414A>G	c.(412-414)GCA>GCG	p.A138A	HDHD2_uc002lct.2_Silent_p.A48A	NM_032124	NP_115500	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain	138							hydrolase activity				0						CTATCAGAGGTGCTCCATCCA	0.433												
SMAD2	4087	broad.mit.edu	37	18	45372100	45372100	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:45372100C>T	uc002lcy.2	-	9	1317	c.1069G>A	c.(1069-1071)GTG>ATG	p.V357M	SMAD2_uc002lcz.2_Missense_Mutation_p.V357M|SMAD2_uc010xdc.1_Missense_Mutation_p.V327M|SMAD2_uc010xdd.1_Missense_Mutation_p.V327M	NM_005901	NP_005892	Q15796	SMAD2_HUMAN	Sma- and Mad-related protein 2 isoform 1	357	MH2.		Missing (in a colorectal carcinoma sample).		anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			large_intestine(3)|lung(1)|central_nervous_system(1)	5						GGGCTCTGCACAAAGATTGCA	0.403												
ZBTB7C	201501	broad.mit.edu	37	18	45566686	45566686	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:45566686C>T	uc002lda.2	-	1	809	c.793G>A	c.(793-795)GGT>AGT	p.G265S	ZBTB7C_uc002ldb.2_Missense_Mutation_p.G265S|ZBTB7C_uc010dnu.2_Missense_Mutation_p.G274S|ZBTB7C_uc010dnv.2_Missense_Mutation_p.G287S|ZBTB7C_uc010dnw.2_Missense_Mutation_p.G265S|ZBTB7C_uc010dnx.1_Missense_Mutation_p.G265S|ZBTB7C_uc010dny.1_Missense_Mutation_p.G265S|ZBTB7C_uc010dnz.1_Missense_Mutation_p.G287S|ZBTB7C_uc010dob.1_Missense_Mutation_p.G265S|ZBTB7C_uc010doc.1_Missense_Mutation_p.G274S|ZBTB7C_uc010dod.1_Missense_Mutation_p.G287S|ZBTB7C_uc010doe.1_Missense_Mutation_p.G265S|ZBTB7C_uc010dof.1_Missense_Mutation_p.G265S|ZBTB7C_uc010dog.1_Missense_Mutation_p.G265S|ZBTB7C_uc010doh.1_Missense_Mutation_p.G274S|ZBTB7C_uc010doi.1_Missense_Mutation_p.G265S|ZBTB7C_uc010doj.1_Missense_Mutation_p.G274S|ZBTB7C_uc010dok.1_Missense_Mutation_p.G314S|ZBTB7C_uc010dol.1_Missense_Mutation_p.G274S|ZBTB7C_uc010doa.1_Missense_Mutation_p.G287S|ZBTB7C_uc010don.1_Missense_Mutation_p.G273S|ZBTB7C_uc010doo.1_Missense_Mutation_p.G265S|ZBTB7C_uc010dop.1_Missense_Mutation_p.G265S|ZBTB7C_uc010doq.1_Missense_Mutation_p.G274S|ZBTB7C_uc010dor.1_Missense_Mutation_p.G287S|ZBTB7C_uc010dos.1_Missense_Mutation_p.G265S|ZBTB7C_uc010dot.1_Missense_Mutation_p.G265S|ZBTB7C_uc010dou.1_Missense_Mutation_p.G274S|ZBTB7C_uc010dom.1_Missense_Mutation_p.G274S	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	265						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						GCAAAGGCACCGAAGTCCCCT	0.597												
DCC	1630	broad.mit.edu	37	18	50985626	50985626	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:50985626C>T	uc002lfe.1	+	24	4004	c.3417C>T	c.(3415-3417)GGC>GGT	p.G1139G	DCC_uc010dpf.1_Silent_p.G774G	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	1139	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)		ACAGTGCTGGCAAAAGGAAGG	0.458												
CDH19	28513	broad.mit.edu	37	18	64218423	64218423	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:64218423T>C	uc002lkc.1	-	5	821	c.683A>G	c.(682-684)GAC>GGC	p.D228G	CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.D228G|CDH19_uc002lkd.2_Missense_Mutation_p.D228G	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	228	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2		Esophageal squamous(42;0.0132)				ACCAATCATGTCCTTGGCTTG	0.308												
ZNF407	55628	broad.mit.edu	37	18	72775812	72775812	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:72775812G>T	uc002llw.2	+	8	6192	c.6135G>T	c.(6133-6135)CAG>CAT	p.Q2045H		NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	2045					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)		TGTTCCCACAGGCCCAGGAGA	0.687												
SALL3	27164	broad.mit.edu	37	18	76753092	76753092	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:76753092C>T	uc002lmt.2	+	2	1101	c.1101C>T	c.(1099-1101)TCC>TCT	p.S367S	SALL3_uc010dra.2_5'UTR	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CTCAGACTTCCGCCAGCGGCG	0.716												
SALL3	27164	broad.mit.edu	37	18	76754571	76754571	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:76754571C>T	uc002lmt.2	+	2	2580	c.2580C>T	c.(2578-2580)ACC>ACT	p.T860T	SALL3_uc010dra.2_Silent_p.T467T	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	860					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		AGCAGCTGACCGGCCTCAAGT	0.682												
TLE2	7089	broad.mit.edu	37	19	3009702	3009702	+	Splice_Site	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:3009702T>C	uc002lww.2	-	13	1276	c.1013_splice	c.e13-1	p.A338_splice	TLE2_uc010xhb.1_Intron|TLE2_uc010dth.2_Splice_Site_p.A339_splice|TLE2_uc010xhc.1_Splice_Site_p.A216_splice|TLE2_uc010dti.2_Splice_Site_p.A352_splice|TLE2_uc010xhd.1_Splice_Site_p.A246_splice	NM_003260	NP_003251	Q04725	TLE2_HUMAN	transducin-like enhancer protein 2 isoform 1						negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTCAGGGCTGAGACGGAAG	0.617												
TBXA2R	6915	broad.mit.edu	37	19	3600363	3600363	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:3600363G>A	uc002lyg.1	-	2	484	c.270C>T	c.(268-270)GCC>GCT	p.A90A	TBXA2R_uc002lye.1_Silent_p.A90A	NM_001060	NP_001051	P21731	TA2R_HUMAN	thromboxane A2 receptor isoform alpha	90	Extracellular (Potential).				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CGAAGAGCGCGGCGTGCTGGG	0.672												
ZFR2	23217	broad.mit.edu	37	19	3823259	3823259	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:3823259C>T	uc002lyw.2	-	8	1368	c.1356G>A	c.(1354-1356)CCG>CCA	p.P452P	ZFR2_uc010xhx.1_RNA	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2 isoform 1	452						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CCACATATTCCGGGCCCACCG	0.617												
EEF2	1938	broad.mit.edu	37	19	3981982	3981982	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:3981982C>T	uc002lze.2	-	6	943	c.860G>A	c.(859-861)CGC>CAC	p.R287H		NM_001961	NP_001952	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	287						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)		GCAGAAGGTGCGTGGCAGCTT	0.612												
TICAM1	148022	broad.mit.edu	37	19	4818050	4818050	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:4818050G>A	uc002mbi.2	-	2	591	c.340C>T	c.(340-342)CGG>TGG	p.R114W		NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	114					apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GCCACGTCCCGCAGCGAGGCG	0.682												
SAFB2	9667	broad.mit.edu	37	19	5587937	5587937	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:5587937G>A	uc002mcd.2	-	19	2792	c.2580C>T	c.(2578-2580)CGC>CGT	p.R860R		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	860	Interacts with SAFB1.|Gly-rich.				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)		CCTGCCAGGCGCGTGCCTGGT	0.662												
SAFB2	9667	broad.mit.edu	37	19	5587943	5587943	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:5587943C>T	uc002mcd.2	-	19	2786	c.2574G>A	c.(2572-2574)CAG>CAA	p.Q858Q		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	858	Interacts with SAFB1.|Gly-rich.				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)		AGGCGCGTGCCTGGTGCTCCT	0.652												
FUT3	2525	broad.mit.edu	37	19	5844584	5844584	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:5844584G>A	uc002mdk.2	-	2	364	c.267C>T	c.(265-267)GCC>GCT	p.A89A	FUT3_uc002mdm.2_Silent_p.A89A|FUT3_uc002mdj.2_Silent_p.A89A|FUT3_uc002mdl.2_Silent_p.A89A|uc002mdn.2_5'Flank	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	fucosyltransferase 3	89	Lumenal (Potential).				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity				0						TGTGGCAGTCGGCTGTGCCGG	0.617												
TUBB4	10382	broad.mit.edu	37	19	6495655	6495655	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:6495655C>T	uc002mfg.1	-	4	962	c.855G>A	c.(853-855)ACG>ACA	p.T285T	TUBB4_uc002mff.1_Silent_p.T213T|MIR220B_hsa-mir-220b|MI0005529_5'Flank	NM_006087	NP_006078	P04350	TBB4_HUMAN	tubulin, beta 4	285					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(2)	2		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)		GCTCGGGCACCGTCAGGGCCC	0.677												
TNFSF14	8740	broad.mit.edu	37	19	6669903	6669903	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:6669903G>A	uc002mfk.1	-	2	560	c.178C>T	c.(178-180)CAG>TAG	p.Q60*	TNFSF14_uc002mfj.1_Intron	NM_003807	NP_003798	O43557	TNF14_HUMAN	tumor necrosis factor ligand superfamily, member	60	Extracellular (Potential).				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			skin(1)	1						CAGTGCAGCTGCAGGAGGAAC	0.667												
VAV1	7409	broad.mit.edu	37	19	6821668	6821668	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:6821668G>A	uc002mfu.1	+	3	454	c.357G>A	c.(355-357)CCG>CCA	p.P119P	VAV1_uc010xjh.1_Silent_p.P119P|VAV1_uc010dva.1_Silent_p.P119P|VAV1_uc002mfv.1_Silent_p.P64P	NM_005428	NP_005419	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	119	CH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						CCTGGACCCCGATCGCCCAGA	0.627												
ARHGEF18	23370	broad.mit.edu	37	19	7527207	7527207	+	Silent	SNP	G	G	A	rs149045020	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:7527207G>A	uc002mgi.2	+	11	2311	c.2058G>A	c.(2056-2058)TCG>TCA	p.S686S	ARHGEF18_uc010xjm.1_Silent_p.S528S|ARHGEF18_uc002mgh.2_Silent_p.S528S|ARHGEF18_uc002mgj.1_Silent_p.S329S	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	686					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1		Renal(5;0.0902)				TTCTCAAGTCGGCCATGAGCG	0.652												
ZNF358	140467	broad.mit.edu	37	19	7584410	7584410	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:7584410C>T	uc002mgn.2	+	2	452	c.282C>T	c.(280-282)CTC>CTT	p.L94L		NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	zinc finger protein 358	94					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						GTTTCGACCTCGATCCAGATG	0.607												
PNPLA6	10908	broad.mit.edu	37	19	7605913	7605913	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:7605913G>A	uc010xjq.1	+	9	1122	c.927G>A	c.(925-927)CCG>CCA	p.P309P	PNPLA6_uc002mgq.1_Silent_p.P261P|PNPLA6_uc010xjp.1_Silent_p.P261P|PNPLA6_uc002mgr.1_Silent_p.P261P|PNPLA6_uc002mgs.2_Silent_p.P300P	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	300	cNMP 1.|Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3						CCAAGTACCCGGAGAGCTTGG	0.697												
LASS4	79603	broad.mit.edu	37	19	8320751	8320751	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:8320751G>A	uc002mjg.2	+	6	776	c.456G>A	c.(454-456)TCG>TCA	p.S152S	LASS4_uc002mjh.2_Silent_p.S101S|LASS4_uc002mji.2_5'UTR|LASS4_uc010dvz.2_Silent_p.S152S	NM_024552	NP_078828	Q9HA82	CERS4_HUMAN	LAG1 homolog, ceramide synthase 4	152	TLC.|Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity			ovary(1)	1						GCGGCCTCTCGGTCCTGTACC	0.617												
ADAMTS10	81794	broad.mit.edu	37	19	8656953	8656953	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:8656953G>A	uc002mkj.1	-	14	1896	c.1622C>T	c.(1621-1623)TCG>TTG	p.S541L	ADAMTS10_uc002mki.1_Missense_Mutation_p.R32C|ADAMTS10_uc002mkk.1_Missense_Mutation_p.S173L	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	541	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						CTCTGGGCGCGACCCAAAGGG	0.682												
ADAMTS10	81794	broad.mit.edu	37	19	8668665	8668665	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:8668665T>C	uc002mkj.1	-	5	813	c.539A>G	c.(538-540)TAC>TGC	p.Y180C	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	180					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						GGAACGCTTGTACACCACATG	0.592												
ACTL9	284382	broad.mit.edu	37	19	8807972	8807972	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:8807972G>A	uc002mkl.2	-	1	1201	c.1080C>T	c.(1078-1080)CGC>CGT	p.R360R		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	actin-like 9	360						cytoplasm|cytoskeleton				large_intestine(2)|pancreas(1)	3						CTGGCAGAGCGCGCAGCAGCT	0.672												
MUC16	94025	broad.mit.edu	37	19	9000147	9000147	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:9000147C>A	uc002mkp.2	-	55	40814	c.40610G>T	c.(40609-40611)AGG>ATG	p.R13537M	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.R354M|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13539	SEA 10.|Extracellular (Potential).			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CAGTTCTCACCTGAGCAAGGT	0.577												
MUC16	94025	broad.mit.edu	37	19	9089934	9089934	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:9089934G>A	uc002mkp.2	-	1	2085	c.1881C>T	c.(1879-1881)CTC>CTT	p.L627L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	627	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGGCTCTGGTGAGTAGGTGGG	0.587												
EIF3G	8666	broad.mit.edu	37	19	10226201	10226201	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:10226201A>G	uc002mnd.2	-	10	965	c.901T>C	c.(901-903)TCC>CCC	p.S301P		NM_003755	NP_003746	O75821	EIF3G_HUMAN	eukaryotic translation initiation factor 3,	301	RRM.					cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity				0			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CCAAAGCCGGACACCCCGGCA	0.652												
PDE4A	5141	broad.mit.edu	37	19	10531499	10531499	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:10531499G>A	uc002moj.2	+	1	167	c.59G>A	c.(58-60)CGG>CAG	p.R20Q		NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	phosphodiesterase 4A isoform 1	20					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CCCGGGCCCCGGGAGGGCCAG	0.741												
KEAP1	9817	broad.mit.edu	37	19	10610652	10610652	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:10610652G>A	uc002moq.1	-	2	214	c.58C>T	c.(58-60)CAG>TAG	p.Q20*	KEAP1_uc002mor.1_Nonsense_Mutation_p.Q20*	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CACTGTGACTGCAGGGGCAGG	0.652												
SMARCA4	6597	broad.mit.edu	37	19	11107211	11107211	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:11107211G>A	uc002mqf.3	+	11	2087	c.1803G>A	c.(1801-1803)CCG>CCA	p.P601P	SMARCA4_uc010dxp.2_Silent_p.P601P|SMARCA4_uc010dxo.2_Silent_p.P601P|SMARCA4_uc002mqg.1_Silent_p.P601P|SMARCA4_uc010dxq.2_Silent_p.P601P|SMARCA4_uc010dxr.2_Silent_p.P601P|SMARCA4_uc002mqj.3_Silent_p.P601P|SMARCA4_uc010dxs.2_Silent_p.P601P	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	601					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)				CCATTGGGCCGGATGGCGAGG	0.507			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome			
ELAVL3	1995	broad.mit.edu	37	19	11569369	11569369	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:11569369C>T	uc002mry.1	-	4	771	c.391G>A	c.(391-393)GGG>AGG	p.G131R	ELAVL3_uc002mrx.1_Missense_Mutation_p.G131R	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	ELAV-like protein 3 isoform 1	131	RRM 2.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			ovary(1)|breast(1)|skin(1)	3						TTGGGGAGCCCGCTGACGTAC	0.602												
ZNF653	115950	broad.mit.edu	37	19	11597866	11597866	+	Missense_Mutation	SNP	C	C	T	rs141445219	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:11597866C>T	uc002mrz.1	-	5	1332	c.1279G>A	c.(1279-1281)GGG>AGG	p.G427R		NM_138783	NP_620138	Q96CK0	ZN653_HUMAN	zinc finger protein 653	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGCTCCTCCCCGTCCGCCTCT	0.642												
ZNF700	90592	broad.mit.edu	37	19	12060023	12060023	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:12060023G>A	uc002msu.2	+	4	1310	c.1184G>A	c.(1183-1185)TGT>TAT	p.C395Y	ZNF700_uc010xme.1_Missense_Mutation_p.C413Y|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	395	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGCAAGCAATGTGGTAAAGCC	0.388												
ZNF799	90576	broad.mit.edu	37	19	12501767	12501767	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:12501767C>T	uc010dyt.2	-	4	1595	c.1445G>A	c.(1444-1446)GGG>GAG	p.G482E	ZNF799_uc002mts.3_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	zinc finger protein 799	482	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						GAATGCTTTCCCACATTCCTT	0.373												
FBXW9	84261	broad.mit.edu	37	19	12800856	12800856	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:12800856G>A	uc010dyx.2	-	6	1012	c.1012C>T	c.(1012-1014)CGG>TGG	p.R338W	FBXW9_uc010xmp.1_RNA|uc002mul.1_3'UTR|FBXW9_uc002mum.1_Missense_Mutation_p.R318W|FBXW9_uc002mun.1_Missense_Mutation_p.R155W	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	F-box and WD-40 domain protein 9	348	WD 4.						protein binding			ovary(1)	1						ATGATGTGCCGGTCATCCGCC	0.667												
MAST1	22983	broad.mit.edu	37	19	12985485	12985485	+	Missense_Mutation	SNP	C	C	A	rs144944600		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:12985485C>A	uc002mvm.2	+	26	4642	c.4514C>A	c.(4513-4515)CCG>CAG	p.P1505Q		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	1505					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						AAGCTCTCCCCGGAGCCCCAG	0.706												
TRMT1	55621	broad.mit.edu	37	19	13226178	13226178	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:13226178A>C	uc002mwj.2	-	4	806	c.556T>G	c.(556-558)TCC>GCC	p.S186A	NACC1_uc002mwm.2_5'Flank|TRMT1_uc002mwk.2_Missense_Mutation_p.S186A|TRMT1_uc002mwl.3_Missense_Mutation_p.S186A|TRMT1_uc010xmz.1_5'UTR	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 isoform 1	186							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GCCCGGGTGGAGGCATCGTTT	0.597												
IL27RA	9466	broad.mit.edu	37	19	14157020	14157020	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:14157020C>T	uc002mxx.2	+	7	1246	c.823C>T	c.(823-825)CGT>TGT	p.R275C		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	class I cytokine receptor precursor	275	Extracellular (Potential).				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity				0						GGTTGGAGGTCGTGAGCTGAG	0.577												
LPHN1	22859	broad.mit.edu	37	19	14261714	14261714	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:14261714C>T	uc010xnn.1	-	24	4692	c.4396G>A	c.(4396-4398)GGG>AGG	p.G1466R	LPHN1_uc010xno.1_Missense_Mutation_p.G1461R|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	1466	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						TGCATCTGCCCGTCCCCATCG	0.701												
LPHN1	22859	broad.mit.edu	37	19	14266920	14266920	+	Splice_Site	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:14266920A>G	uc010xnn.1	-	18	3436	c.3140_splice	c.e18+1	p.K1047_splice	LPHN1_uc010xno.1_Splice_Site_p.K1042_splice|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						GGCGAGGCTCACTTAATGTTG	0.537												
LPHN1	22859	broad.mit.edu	37	19	14273846	14273846	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:14273846C>T	uc010xnn.1	-	6	1078	c.782G>A	c.(781-783)CGC>CAC	p.R261H	LPHN1_uc010xno.1_Missense_Mutation_p.R256H|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	261	Olfactomedin-like.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						TCCGCCCCAGCGGTAGGGCGA	0.622												
SLC1A6	6511	broad.mit.edu	37	19	15065111	15065111	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:15065111G>A	uc002naa.1	-	7	1208	c.1200C>T	c.(1198-1200)TGC>TGT	p.C400C	SLC1A6_uc010dzu.1_Silent_p.C322C|SLC1A6_uc010xod.1_Silent_p.C336C	NM_005071	NP_005062	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity	400					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(3)|ovary(2)|skin(1)	6					L-Glutamic Acid(DB00142)	CCTCCTCCAGGCAGCGGAAGG	0.697												
CYP4F12	66002	broad.mit.edu	37	19	15791216	15791216	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:15791216C>T	uc002nbl.2	+	5	473	c.412C>T	c.(412-414)CTG>TTG	p.L138L	CYP4F12_uc010xoo.1_Silent_p.L138L|CYP4F12_uc010xop.1_Missense_Mutation_p.A169V	NM_023944	NP_076433			cytochrome P450, family 4, subfamily F,											skin(3)|ovary(2)|central_nervous_system(2)	7	Acute lymphoblastic leukemia(2;0.0367)					AGGGATACTGCTGAGTGGCGG	0.572												
OR10H5	284433	broad.mit.edu	37	19	15905398	15905398	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:15905398C>T	uc010xos.1	+	1	540	c.540C>T	c.(538-540)CAC>CAT	p.H180H		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H,	180	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TCTTCTGCCACGTGCCACCTC	0.587												
NWD1	284434	broad.mit.edu	37	19	16875869	16875869	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:16875869G>A	uc002neu.3	+	10	2698	c.2276G>A	c.(2275-2277)CGG>CAG	p.R759Q	NWD1_uc002net.3_Missense_Mutation_p.R624Q|NWD1_uc002nev.3_Missense_Mutation_p.R553Q			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	759							ATP binding			skin(3)|ovary(2)|pancreas(2)	7						ATTTCCTGCCGGGGCATCTCT	0.602												
ABHD8	79575	broad.mit.edu	37	19	17412369	17412369	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:17412369G>A	uc002ngb.3	-	2	297	c.57C>T	c.(55-57)AAC>AAT	p.N19N		NM_024527	NP_078803	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	19							hydrolase activity				0						GCCCCACGGCGTTGGGGGGCG	0.652												
BST2	684	broad.mit.edu	37	19	17516268	17516268	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:17516268C>T	uc002ngl.2	-	1	126	c.117G>A	c.(115-117)GTG>GTA	p.V39V	uc010eat.1_5'Flank|uc002ngm.1_5'Flank	NM_004335	NP_004326	Q10589	BST2_HUMAN	bone marrow stromal cell antigen 2 precursor	39	Helical; Signal-anchor for type II membrane protein; (Potential).				B cell activation|cell proliferation|cell-cell signaling|defense response to virus|humoral immune response|innate immune response|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade	anchored to membrane|Golgi apparatus|integral to plasma membrane|late endosome	protein homodimerization activity|signal transducer activity			ovary(3)	3						TAATCAAGGGCACCCCCAGAA	0.552												
MAP1S	55201	broad.mit.edu	37	19	17844195	17844195	+	Silent	SNP	C	C	T	rs147584152		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:17844195C>T	uc002nhe.1	+	6	2991	c.2982C>T	c.(2980-2982)GAC>GAT	p.D994D	MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_Silent_p.D242D|MAP1S_uc010xpv.1_Silent_p.D968D	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	994	Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1						CCGTCCTGGACGCGCTACTGG	0.622												
FCHO1	23149	broad.mit.edu	37	19	17886791	17886791	+	Splice_Site	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:17886791C>T	uc010ebb.2	+	15	1193	c.1004_splice	c.e15-1	p.S335_splice	FCHO1_uc002nhg.3_Splice_Site_p.S335_splice|FCHO1_uc002nhh.2_Splice_Site_p.S335_splice|FCHO1_uc010xpw.1_Splice_Site_p.S285_splice|FCHO1_uc002nhi.2_5'Flank|FCHO1_uc002nhj.2_5'Flank	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN	FCH domain only 1 isoform b											breast(1)	1						CTGCAGCCCACGCACGGCCGA	0.627											OREG0025349	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
JAK3	3718	broad.mit.edu	37	19	17937670	17937670	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:17937670G>T	uc002nhn.3	-	24	3357	c.3257C>A	c.(3256-3258)CCA>CAA	p.P1086Q	JAK3_uc010ebh.2_Intron	NM_000215	NP_000206	P52333	JAK3_HUMAN	Janus kinase 3	1086	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						GCTGAATGATGGCCGGTCCTG	0.637		2	Mis		acute megakaryocytic leukemia|							
KIAA1683	80726	broad.mit.edu	37	19	18377082	18377082	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:18377082A>G	uc002nin.2	-	3	1484	c.1268T>C	c.(1267-1269)ATC>ACC	p.I423T	KIAA1683_uc010ebn.2_Missense_Mutation_p.I423T|KIAA1683_uc010xqe.1_Missense_Mutation_p.I377T	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	423	Thr-rich.					mitochondrion				ovary(2)	2						CTTTGCCGTGATGGTCGCAGG	0.612												
COMP	1311	broad.mit.edu	37	19	18898336	18898336	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:18898336G>A	uc002nke.2	-	10	1135	c.1099C>T	c.(1099-1101)CGG>TGG	p.R367W	COMP_uc002nkd.2_Missense_Mutation_p.R334W|COMP_uc010xqj.1_Missense_Mutation_p.R314W	NM_000095	NP_000086	P49747	COMP_HUMAN	cartilage oligomeric matrix protein precursor	367	Cell attachment site (Potential).|TSP type-3 4.		Missing (in EDM1).		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						GCATCGCCCCGGCCGTCCTGG	0.682												
ARMC6	93436	broad.mit.edu	37	19	19165115	19165115	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:19165115C>T	uc002nld.2	+	6	1356	c.1008C>T	c.(1006-1008)GAC>GAT	p.D336D	ARMC6_uc002nlc.2_Silent_p.D311D|ARMC6_uc010xql.1_Silent_p.D243D|ARMC6_uc002nle.2_Silent_p.D311D|ARMC6_uc010xqm.1_Silent_p.D336D	NM_033415	NP_219483	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	336	ARM 3.						protein binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			AGATGAGGGACCAGAGCGGCG	0.607											OREG0025376	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NCAN	1463	broad.mit.edu	37	19	19338599	19338599	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:19338599T>C	uc002nlz.2	+	8	2269	c.2170T>C	c.(2170-2172)TCC>CCC	p.S724P	NCAN_uc010ecc.1_Missense_Mutation_p.S288P	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	724					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			GCACTCCAGCTCCAGCCCATG	0.592												
HAPLN4	404037	broad.mit.edu	37	19	19369374	19369374	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:19369374C>T	uc002nmb.2	-	4	830	c.775G>A	c.(775-777)GAG>AAG	p.E259K	HAPLN4_uc002nmc.2_Missense_Mutation_p.E259K	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	259	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			pancreas(1)	1			Epithelial(12;0.00575)			TAGCGTTCCTCGGCGTTATGG	0.706												
TSSK6	83983	broad.mit.edu	37	19	19626062	19626062	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:19626062G>A	uc002nmr.2	-	1	408	c.175C>T	c.(175-177)CGA>TGA	p.R59*	TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	59	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			stomach(1)	1						GACAGCTCTCGCGGCAGGAAC	0.612												
PBX4	80714	broad.mit.edu	37	19	19681519	19681519	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:19681519G>A	uc002nmy.2	-	3	318	c.317C>T	c.(316-318)GCC>GTC	p.A106V	PBX4_uc010xqz.1_RNA|PBX4_uc010xra.1_5'UTR	NM_025245	NP_079521	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	106							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						GCCGGCCCTGGCCACCGCTCC	0.597												
ZNF430	80264	broad.mit.edu	37	19	21239589	21239589	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:21239589A>G	uc002npj.2	+	5	585	c.475A>G	c.(475-477)AAA>GAA	p.K159E	ZNF430_uc002npk.2_Missense_Mutation_p.K158E	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)	2						TAATCTGCACAAAGAATGTTA	0.313												
ZNF675	171392	broad.mit.edu	37	19	23836085	23836085	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:23836085G>A	uc002nri.2	-	4	1832	c.1650C>T	c.(1648-1650)AAC>AAT	p.N550N		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	zinc finger protein 675	550	C2H2-type 15.				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|kidney(1)	2		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GTTTAGTAAGGTTTGCAGATT	0.318												
ZNF536	9745	broad.mit.edu	37	19	31039638	31039638	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:31039638A>G	uc002nsu.1	+	4	3250	c.3112A>G	c.(3112-3114)ACA>GCA	p.T1038A	ZNF536_uc010edd.1_Missense_Mutation_p.T1038A	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1038					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					CATCGGGGTCACAGTCAACTG	0.537												
SLC7A10	56301	broad.mit.edu	37	19	33716477	33716477	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:33716477C>T	uc002num.2	-	1	280	c.133G>A	c.(133-135)GCC>ACC	p.A45T	SLC7A10_uc010xrq.1_Missense_Mutation_p.R86H	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN	solute carrier family 7, member 10	45	Helical; (Potential).				blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(110;0.137)					ATGGTGCAGGCGCTCAGCAGC	0.751												
TMEM149	79713	broad.mit.edu	37	19	36230389	36230389	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:36230389G>A	uc002obc.2	-	5	961	c.860C>T	c.(859-861)GCA>GTA	p.A287V	TMEM149_uc002obb.2_Missense_Mutation_p.A99V|TMEM149_uc002obd.3_Missense_Mutation_p.A287V|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Missense_Mutation_p.A367V	NM_024660	NP_078936	Q9H665	IGFR1_HUMAN	transmembrane protein 149 precursor	287	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein binding|receptor activity				0	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCATATCTTGCGGCCAGGTG	0.627												
CLIP3	25999	broad.mit.edu	37	19	36515513	36515513	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:36515513C>A	uc010eeq.1	-	6	985	c.703G>T	c.(703-705)GCG>TCG	p.A235S	uc002ocy.2_Intron|CLIP3_uc002ocz.1_Missense_Mutation_p.A235S	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	235					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACCACCTCCGCCGGCACCTGT	0.622												
CLIP3	25999	broad.mit.edu	37	19	36518142	36518142	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:36518142C>T	uc010eeq.1	-	2	480	c.198G>A	c.(196-198)GCG>GCA	p.A66A	uc002ocy.2_Intron|CLIP3_uc002ocz.1_Silent_p.A66A	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	66					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCTCCTGGCACGCCGGGTCAT	0.602												
WDR62	284403	broad.mit.edu	37	19	36594454	36594454	+	Missense_Mutation	SNP	G	G	A	rs143493857	by1000genomes	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:36594454G>A	uc002odc.2	+	30	3800	c.3709G>A	c.(3709-3711)GTG>ATG	p.V1237M	WDR62_uc002odd.2_Missense_Mutation_p.V1242M	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	1237					cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGGCCCTATCGTGGCCACACT	0.652												
ZNF565	147929	broad.mit.edu	37	19	36673976	36673976	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:36673976G>A	uc002odn.2	-	5	1000	c.892C>T	c.(892-894)CGG>TGG	p.R298W	ZNF565_uc010ees.2_Missense_Mutation_p.R233W|ZNF565_uc002odo.2_Missense_Mutation_p.R298W	NM_152477	NP_689690	Q8N9K5	ZN565_HUMAN	zinc finger protein 565	298	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TGGATTCTCCGATGCACAGTG	0.507												
ZNF146	7705	broad.mit.edu	37	19	36727929	36727929	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:36727929G>A	uc002odq.3	+	4	2110	c.587G>A	c.(586-588)CGA>CAA	p.R196Q	ZNF146_uc010eet.2_Missense_Mutation_p.R196Q|ZNF146_uc010eeu.2_Missense_Mutation_p.R196Q	NM_007145	NP_009076	Q15072	OZF_HUMAN	zinc finger protein 146	196	C2H2-type 7.				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding				0	Esophageal squamous(110;0.162)					TTCTCTCAGCGAACATCACTT	0.418												
GGN	199720	broad.mit.edu	37	19	38876327	38876327	+	Silent	SNP	C	C	T	rs17853364		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:38876327C>T	uc002oij.1	-	3	1710	c.1575G>A	c.(1573-1575)ACG>ACA	p.T525T	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Silent_p.T442T	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	525	Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity).				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGTTCCTGCGCGTGCGGGTCT	0.363												
RYR1	6261	broad.mit.edu	37	19	38934390	38934390	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:38934390G>A	uc002oit.2	+	5	508	c.378G>A	c.(376-378)ATG>ATA	p.M126I	RYR1_uc002oiu.2_Missense_Mutation_p.M126I	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	126	Cytoplasmic.|MIR 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCGCTCCATGACTGACAAGC	0.647												
RYR1	6261	broad.mit.edu	37	19	39013867	39013867	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:39013867G>A	uc002oit.2	+	69	10488	c.10358G>A	c.(10357-10359)CGC>CAC	p.R3453H	RYR1_uc002oiu.2_Missense_Mutation_p.R3453H|RYR1_uc002oiv.1_Missense_Mutation_p.R373H|RYR1_uc010xuf.1_Missense_Mutation_p.R373H	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3453					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AACTTCAAGCGCGAGGAGCAG	0.577												
HNRNPL	3191	broad.mit.edu	37	19	39336661	39336661	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:39336661G>A	uc010xul.1	-	3	467	c.456C>T	c.(454-456)AAC>AAT	p.N152N	HNRNPL_uc010xum.1_Silent_p.N19N|HNRNPL_uc010xun.1_5'Flank	NM_001533	NP_001524	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	152	RRM 1.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding				0	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			AGTTCACTGCGTTGCAAGCCC	0.507												
NFKBIB	4793	broad.mit.edu	37	19	39399408	39399408	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:39399408G>A	uc002ojw.2	+	6	1065	c.1007G>A	c.(1006-1008)AGC>AAC	p.S336N	NFKBIB_uc002ojx.2_3'UTR|NFKBIB_uc002ojy.2_3'UTR	NM_002503	NP_002494	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene	336					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)			AGCAGCCGCAGCCAAACCCGG	0.552												
SARS2	54938	broad.mit.edu	37	19	39406730	39406730	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:39406730G>A	uc002oka.2	-	14	1454	c.1294C>T	c.(1294-1296)CGC>TGC	p.R432C	SARS2_uc002ojz.2_Missense_Mutation_p.R242C|SARS2_uc010xup.1_Missense_Mutation_p.R434C|SARS2_uc002okb.2_Missense_Mutation_p.R432C|SARS2_uc010xuq.1_Missense_Mutation_p.R432C	NM_017827	NP_060297	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2 isoform b precursor	432					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ATGTGGAGGCGGCGGCTCTGG	0.687												
SARS2	54938	broad.mit.edu	37	19	39412274	39412274	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:39412274G>A	uc002oka.2	-	4	587	c.427C>T	c.(427-429)CGG>TGG	p.R143W	SARS2_uc002ojz.2_Intron|SARS2_uc010xup.1_Intron|SARS2_uc002okb.2_Missense_Mutation_p.R143W|SARS2_uc010xuq.1_Missense_Mutation_p.R143W|SARS2_uc010xur.1_RNA	NM_017827	NP_060297	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2 isoform b precursor	143					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CGGATCTCCCGGCCACGTGCC	0.652												
LRFN1	57622	broad.mit.edu	37	19	39804758	39804758	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:39804758C>T	uc002okw.2	-	1	1219	c.1219G>A	c.(1219-1221)GGC>AGC	p.G407S		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III	407	Extracellular (Potential).					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		p.Q407R(1)		ovary(2)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TCAGAGGAGCCGGGCTCGGTG	0.697												
FBL	2091	broad.mit.edu	37	19	40331273	40331273	+	Silent	SNP	T	T	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:40331273T>A	uc002omn.2	-	2	279	c.165A>T	c.(163-165)GGA>GGT	p.G55G	FBL_uc002omm.1_5'Flank|FBL_uc002omo.2_Silent_p.G55G|FBL_uc010egr.2_Silent_p.G55G	NM_001436	NP_001427	P22087	FBRL_HUMAN	fibrillarin	55	DMA/Gly-rich.				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			ovary(1)	1	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		ttcctcctcctccaccgccgc	0.468												
CNFN	84518	broad.mit.edu	37	19	42893100	42893100	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:42893100G>A	uc002otp.3	-	2	145	c.90C>T	c.(88-90)GAC>GAT	p.D30D	CNFN_uc002otq.3_Silent_p.D43D	NM_032488	NP_115877	Q9BYD5	CNFN_HUMAN	cornifelin	30					keratinization	cornified envelope|cytoplasm					0		Prostate(69;0.00899)				CGTTGCAGCAGTCCGTGAGAC	0.617												
CADM4	199731	broad.mit.edu	37	19	44130372	44130372	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:44130372G>A	uc002oxc.1	-	5	617	c.568C>T	c.(568-570)CGT>TGT	p.R190C		NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4 precursor	190	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion	integral to membrane					0		Prostate(69;0.0199)				TCGTCCTTACGGTCCACACGA	0.592												
ZNF155	7711	broad.mit.edu	37	19	44500737	44500737	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:44500737G>A	uc002oxy.1	+	5	933	c.728G>A	c.(727-729)CGT>CAT	p.R243H	ZNF155_uc002oxz.1_Missense_Mutation_p.R243H|ZNF155_uc010xwt.1_Missense_Mutation_p.R254H	NM_003445	NP_003436	Q12901	ZN155_HUMAN	zinc finger protein 155	243	C2H2-type 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2		Prostate(69;0.0352)				GGTTTCAGTCGTAGATCAGCA	0.428												
ZNF225	7768	broad.mit.edu	37	19	44636092	44636092	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:44636092A>G	uc002oyj.1	+	5	1568	c.1325A>G	c.(1324-1326)GAT>GGT	p.D442G	ZNF225_uc010eje.1_Missense_Mutation_p.D359G|ZNF225_uc010ejf.1_Missense_Mutation_p.D442G	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	zinc finger protein 225	442	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				AGGAGGTTGGATCTTGACTTT	0.448												
APOC4	346	broad.mit.edu	37	19	45448482	45448482	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:45448482C>A	uc002pag.1	+	3	344	c.304C>A	c.(304-306)CTC>ATC	p.L102I	APOC2_uc002pah.2_5'Flank	NM_001646	NP_001637	P55056	APOC4_HUMAN	apolipoprotein C-IV precursor	102					lipid metabolic process|positive regulation of sequestering of triglyceride|triglyceride homeostasis	high-density lipoprotein particle|very-low-density lipoprotein particle	lipid transporter activity			breast(1)	1	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178)		GGCCTGGTTCCTCGAATCCAA	0.542												
MARK4	57787	broad.mit.edu	37	19	45766584	45766584	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:45766584G>A	uc002pbb.1	+	4	319	c.314G>A	c.(313-315)CGA>CAA	p.R105Q	MARK4_uc002paz.1_Intron|MARK4_uc002pba.1_Missense_Mutation_p.R105Q|MARK4_uc002pbc.1_5'Flank			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;	105	Protein kinase.				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)		CAGCTGTTCCGAGAAGTCCGC	0.587												
RSPH6A	81492	broad.mit.edu	37	19	46308106	46308106	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:46308106G>A	uc002pdm.2	-	3	1200	c.1057C>T	c.(1057-1059)CGC>TGC	p.R353C	RSPH6A_uc002pdl.2_Missense_Mutation_p.R89C	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	radial spokehead-like 1	353						intracellular				ovary(1)|central_nervous_system(1)	2						AGGTAGCTGCGTTTGATTCCC	0.453												
HIF3A	64344	broad.mit.edu	37	19	46815873	46815873	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:46815873C>A	uc002peh.2	+	8	1017	c.988C>A	c.(988-990)CAG>AAG	p.Q330K	HIF3A_uc002pef.1_3'UTR|HIF3A_uc002peg.3_Missense_Mutation_p.Q330K|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Missense_Mutation_p.Q274K|HIF3A_uc002pej.1_Missense_Mutation_p.Q261K|HIF3A_uc002pek.2_Missense_Mutation_p.Q274K|HIF3A_uc010xxy.1_Missense_Mutation_p.Q261K|HIF3A_uc002pel.2_Missense_Mutation_p.Q328K|HIF3A_uc010xxz.1_Missense_Mutation_p.Q279K	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	330					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)		ACGGGGCCCCCAGTCGGAGAG	0.607												
HIF3A	64344	broad.mit.edu	37	19	46832648	46832648	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:46832648G>A	uc002peh.2	+	12	1654	c.1625G>A	c.(1624-1626)CGC>CAC	p.R542H	HIF3A_uc002peg.3_Missense_Mutation_p.R542H|HIF3A_uc002pei.3_Missense_Mutation_p.R486H|HIF3A_uc002pej.1_Intron|HIF3A_uc002pek.2_Missense_Mutation_p.R486H|HIF3A_uc010xxy.1_Missense_Mutation_p.R473H|HIF3A_uc002pel.2_Missense_Mutation_p.R540H|HIF3A_uc010xxz.1_Missense_Mutation_p.R491H	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	542	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)		CTGCTACCCCGCTGGGGGAGT	0.692												
STRN4	29888	broad.mit.edu	37	19	47236446	47236446	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:47236446G>T	uc002pfl.2	-	5	620	c.587C>A	c.(586-588)TCC>TAC	p.S196Y	STRN4_uc002pfm.2_Missense_Mutation_p.S196Y|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	196						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding				0		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GACGCGCTTGGACCGCATGTC	0.652												
CARD8	22900	broad.mit.edu	37	19	48722193	48722193	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:48722193G>A	uc002pie.3	-	8	1233	c.920C>T	c.(919-921)CCC>CTC	p.P307L	CARD8_uc002pii.3_Intron|CARD8_uc002pid.1_RNA|CARD8_uc010xzi.1_Missense_Mutation_p.P308L|CARD8_uc010els.2_Intron|CARD8_uc010xzj.1_Missense_Mutation_p.P413L|CARD8_uc010xzk.1_Missense_Mutation_p.P332L|CARD8_uc002pif.3_Intron|CARD8_uc002pig.3_Missense_Mutation_p.P138L|CARD8_uc002pih.3_Missense_Mutation_p.P363L|CARD8_uc010xzl.1_Missense_Mutation_p.P363L|CARD8_uc010xzm.1_Intron	NM_014959	NP_055774	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	307					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)		AAGTTGAATGGGTTCCTTCAT	0.458												
SPACA4	171169	broad.mit.edu	37	19	49110288	49110288	+	Missense_Mutation	SNP	C	C	T	rs147138042		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:49110288C>T	uc002pjo.2	+	1	289	c.53C>T	c.(52-54)ACG>ATG	p.T18M	FAM83E_uc002pjn.2_Intron	NM_133498	NP_598005	Q8TDM5	SACA4_HUMAN	sperm acrosomal membrane protein 14 precursor	18					cell adhesion	acrosomal vesicle|anchored to membrane|plasma membrane				central_nervous_system(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		CCAGGCACGACGGGCGTCAAG	0.652												
TRPM4	54795	broad.mit.edu	37	19	49692270	49692270	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:49692270G>A	uc002pmw.2	+	14	2013	c.1941G>A	c.(1939-1941)CCG>CCA	p.P647P	TRPM4_uc010emu.2_Silent_p.P647P|TRPM4_uc010yak.1_Silent_p.P111P|TRPM4_uc002pmx.2_Silent_p.P473P|TRPM4_uc010emv.2_Silent_p.P532P|TRPM4_uc010yal.1_Silent_p.P293P|TRPM4_uc002pmy.2_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	647	Cytoplasmic (Potential).				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			ovary(1)|central_nervous_system(1)	2		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GTCGCTGCCCGCTCTGGGGGG	0.617												
PIH1D1	55011	broad.mit.edu	37	19	49950717	49950717	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:49950717G>A	uc002pns.2	-	6	773	c.489C>T	c.(487-489)CGC>CGT	p.R163R		NM_017916	NP_060386	Q9NWS0	PIHD1_HUMAN	NOP17	163					box C/D snoRNP assembly	pre-snoRNP complex					0		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;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		TCTTCATCATGCGCCATTCTG	0.627												
ALDH16A1	126133	broad.mit.edu	37	19	49971689	49971689	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:49971689C>T	uc002pnt.2	+	15	2106	c.1990C>T	c.(1990-1992)CTG>TTG	p.L664L	ALDH16A1_uc010yar.1_Silent_p.L613L|ALDH16A1_uc010yas.1_Silent_p.L499L|ALDH16A1_uc010yat.1_Silent_p.L501L	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	664							oxidoreductase activity|protein binding			skin(1)	1		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)		GCTGGGTGTGCTGGCTGTGGT	0.662												
SIGLEC11	114132	broad.mit.edu	37	19	50463680	50463680	+	Splice_Site	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:50463680T>C	uc010ybh.1	-	3	552	c.461_splice	c.e3-1	p.A154_splice	SIGLEC11_uc010ybi.1_Splice_Site_p.A154_splice	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11 isoform 1						cell adhesion	integral to membrane	sugar binding			ovary(3)|central_nervous_system(2)|pancreas(1)	6		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TAGTCAGGGCTGGGACAGAGA	0.602												
SPIB	6689	broad.mit.edu	37	19	50926138	50926138	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:50926138C>T	uc002psd.2	+	4	208	c.183C>T	c.(181-183)TTC>TTT	p.F61F	SPIB_uc002pse.2_Silent_p.F61F|SPIB_uc010ycc.1_Intron	NM_003121	NP_003112	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	61	TAD2.				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			lung(1)|kidney(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		ATGAAGCCTTCGACCCGGCAG	0.662												
KLK8	11202	broad.mit.edu	37	19	51503785	51503785	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:51503785T>C	uc002pur.1	-	3	304	c.125A>G	c.(124-126)CAT>CGT	p.H42R	KLK9_uc002puw.1_RNA|KLK8_uc002puq.1_Missense_Mutation_p.H87R|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Missense_Mutation_p.H42R|KLK9_uc002puv.1_Intron	NM_007196	NP_009127	O60259	KLK8_HUMAN	kallikrein 8 isoform 1 preproprotein	42	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)	1		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		AGGCTGCGAATGGGGTTGGCA	0.622												
ZNF528	84436	broad.mit.edu	37	19	52918821	52918821	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:52918821A>T	uc002pzh.2	+	7	1142	c.716A>T	c.(715-717)AAG>ATG	p.K239M	ZNF528_uc002pzi.2_Missense_Mutation_p.K6M	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ACTGGAGAGAAGCCTTACAAA	0.388												
MYADM	91663	broad.mit.edu	37	19	54377015	54377015	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:54377015G>A	uc002qcl.2	+	3	380	c.232G>A	c.(232-234)GTG>ATG	p.V78M	MYADM_uc002qcm.2_Missense_Mutation_p.V78M|MYADM_uc002qcn.2_Missense_Mutation_p.V78M|MYADM_uc002qco.2_Missense_Mutation_p.V78M|MYADM_uc002qcp.2_Missense_Mutation_p.V78M	NM_001020820	NP_001018656	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	78	MARVEL 1.|Helical; (Potential).			Missing (in Ref. 4; BAC04265).		integral to membrane				ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		CTGCTTCTCCGTGACCCTGAT	0.642											OREG0003650	type=REGULATORY REGION|Gene=MYADM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
PRKCG	5582	broad.mit.edu	37	19	54394974	54394974	+	Silent	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:54394974T>C	uc002qcq.1	+	6	858	c.576T>C	c.(574-576)TCT>TCC	p.S192S	PRKCG_uc010eqz.1_Silent_p.S192S|PRKCG_uc010yef.1_Silent_p.S192S|PRKCG_uc010yeg.1_Silent_p.S192S|PRKCG_uc010yeh.1_Silent_p.S79S	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	192	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ATGGTCTCTCTGATCCCTATG	0.537												
NCR1	9437	broad.mit.edu	37	19	55417575	55417575	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:55417575C>T	uc002qib.2	+	1	68	c.30C>T	c.(28-30)TGC>TGT	p.C10C	NCR1_uc002qic.2_Silent_p.C10C|NCR1_uc002qie.2_Silent_p.C10C|NCR1_uc002qid.2_Silent_p.C10C|NCR1_uc002qif.2_Silent_p.C10C|NCR1_uc010esj.2_Silent_p.C10C	NM_004829	NP_004820	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	10					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(193;0.0449)		CCCTGCTCTGCGTCGGTGAGT	0.607												
PPP1R12C	54776	broad.mit.edu	37	19	55614811	55614811	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:55614811C>T	uc002qix.2	-	4	713	c.697G>A	c.(697-699)GTG>ATG	p.V233M	PPP1R12C_uc010yfs.1_Missense_Mutation_p.V159M|PPP1R12C_uc002qiy.2_Missense_Mutation_p.V233M	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	233	ANK 3.					cytoplasm				ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GCAGCAGCCACGTGCAGGGCA	0.567												
SYT5	6861	broad.mit.edu	37	19	55687120	55687120	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:55687120C>T	uc002qjm.1	-	4	1557	c.497G>A	c.(496-498)CGG>CAG	p.R166Q	SYT5_uc002qjp.2_Missense_Mutation_p.R163Q|SYT5_uc002qjn.1_Missense_Mutation_p.R166Q|SYT5_uc002qjo.1_Missense_Mutation_p.R166Q	NM_003180	NP_003171	O00445	SYT5_HUMAN	synaptotagmin V	166	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)		CAGCGTCTGCCGATGCACCTT	0.612												
NLRP8	126205	broad.mit.edu	37	19	56465979	56465979	+	Silent	SNP	C	C	T	rs112109260	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:56465979C>T	uc002qmh.2	+	3	626	c.555C>T	c.(553-555)CAC>CAT	p.H185H	NLRP8_uc010etg.2_Silent_p.H185H	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	185						cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TACACAGGCACGAGGAGTACT	0.502												
NLRP5	126206	broad.mit.edu	37	19	56565126	56565126	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:56565126C>T	uc002qmj.2	+	13	3251	c.3251C>T	c.(3250-3252)GCG>GTG	p.A1084V	NLRP5_uc002qmi.2_Missense_Mutation_p.A1065V	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	1084	LRR 12.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGGGTTGCTGCGCTGTGCGAG	0.627												
ZNF211	10520	broad.mit.edu	37	19	58152086	58152086	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:58152086G>A	uc002qpq.2	+	3	412	c.232G>A	c.(232-234)GTG>ATG	p.V78M	ZNF211_uc010yhb.1_Missense_Mutation_p.V82M|ZNF211_uc002qpp.2_Missense_Mutation_p.V91M|ZNF211_uc002qpr.2_Missense_Mutation_p.V142M|ZNF211_uc002qps.2_Missense_Mutation_p.V143M|ZNF211_uc002qpt.2_Missense_Mutation_p.V90M|ZNF211_uc010yhc.1_Missense_Mutation_p.V90M|ZNF211_uc010yhd.1_Missense_Mutation_p.V17M|ZNF211_uc010yhe.1_Missense_Mutation_p.V69M	NM_198855	NP_942152	Q13398	ZN211_HUMAN	zinc finger protein 211 isoform 2	78	KRAB.					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)		TTGGTGTGGAGTGGAACATGA	0.423												
ZNF211	10520	broad.mit.edu	37	19	58152796	58152796	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:58152796G>A	uc002qpq.2	+	3	1122	c.942G>A	c.(940-942)GCG>GCA	p.A314A	ZNF211_uc010yhb.1_Silent_p.A318A|ZNF211_uc002qpp.2_Silent_p.A327A|ZNF211_uc002qpr.2_Silent_p.A378A|ZNF211_uc002qps.2_Silent_p.A379A|ZNF211_uc002qpt.2_Silent_p.A326A|ZNF211_uc010yhc.1_Silent_p.A326A|ZNF211_uc010yhd.1_Silent_p.A253A|ZNF211_uc010yhe.1_Silent_p.A305A	NM_198855	NP_942152	Q13398	ZN211_HUMAN	zinc finger protein 211 isoform 2	314	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I314L(1)		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)		GGCCTTATGCGTGCCCTGAAT	0.413												
PXDN	7837	broad.mit.edu	37	2	1639246	1639246	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:1639246G>A	uc002qxa.2	-	22	4318	c.4254C>T	c.(4252-4254)GCC>GCT	p.A1418A		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1418	VWFC.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ATTCGCCCCCGGCATCCACGC	0.468												
TSSC1	7260	broad.mit.edu	37	2	3196254	3196254	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:3196254G>A	uc002qxj.2	-	8	1113	c.920C>T	c.(919-921)TCG>TTG	p.S307L	TSSC1_uc002qxi.2_RNA	NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	307	WD 4.						protein binding				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		GAAGGGCTCCGACGAGATGGA	0.577												
ASAP2	8853	broad.mit.edu	37	2	9463332	9463332	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:9463332G>A	uc002qzh.2	+	6	893	c.553G>A	c.(553-555)GAA>AAA	p.E185K	ASAP2_uc002qzi.2_Missense_Mutation_p.E185K	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	185					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0						GGAAATTGCCGAAGAGATGGA	0.537												
CPSF3	51692	broad.mit.edu	37	2	9581993	9581993	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:9581993C>A	uc002qzo.1	+	9	1018	c.983C>A	c.(982-984)TCC>TAC	p.S328Y	CPSF3_uc010ewx.1_Missense_Mutation_p.S328Y|CPSF3_uc002qzp.1_Missense_Mutation_p.S291Y	NM_016207	NP_057291	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3,	328					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			breast(2)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		GTAATGGCCTCCCCAGGCATG	0.433												
NBAS	51594	broad.mit.edu	37	2	15694199	15694199	+	Silent	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:15694199A>G	uc002rcc.1	-	4	299	c.273T>C	c.(271-273)CAT>CAC	p.H91H	NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	91										ovary(2)|liver(1)|skin(1)	4						CAAGTACCAAATGCCAGTTTA	0.373												
SMC6	79677	broad.mit.edu	37	2	17877642	17877642	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:17877642G>A	uc002rco.2	-	22	2742	c.2446C>T	c.(2446-2448)CGA>TGA	p.R816*	SMC6_uc010exo.2_Nonsense_Mutation_p.R816*|SMC6_uc002rcn.2_Nonsense_Mutation_p.R816*|SMC6_uc002rcp.1_Nonsense_Mutation_p.R842*	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN	SMC6 protein	816	Potential.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCATAATGTCGTTTCCCTCGT	0.318												
GEN1	348654	broad.mit.edu	37	2	17946245	17946245	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:17946245G>A	uc002rct.2	+	4	503	c.430G>A	c.(430-432)GCT>ACT	p.A144T	SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.A144T|GEN1_uc002rcu.2_Missense_Mutation_p.A144T	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Gen homolog 1, endonuclease	144	I-domain.				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTATCTCAATGCTGGTGGTCA	0.473								Homologous_recombination				
SDC1	6382	broad.mit.edu	37	2	20402653	20402653	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:20402653G>A	uc002rdo.1	-	5	1106	c.807C>T	c.(805-807)TGC>TGT	p.C269C	SDC1_uc002rdp.1_Silent_p.C269C|SDC1_uc010exv.2_Intron	NM_002997	NP_002988	P18827	SDC1_HUMAN	syndecan 1 precursor	269	Helical; (Potential).				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			ovary(4)|skin(1)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		AACCCACCAGGCACACAGCAA	0.617												
APOB	338	broad.mit.edu	37	2	21227276	21227276	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:21227276G>A	uc002red.2	-	28	12080	c.11952C>T	c.(11950-11952)ACC>ACT	p.T3984T		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3984					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)	GATGGAGATCGGTGAACGCTG	0.512												
APOB	338	broad.mit.edu	37	2	21260067	21260067	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:21260067C>A	uc002red.2	-	6	726	c.598G>T	c.(598-600)GCA>TCA	p.A200S		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	200	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATTTCTGTTGCCACATTGCCC	0.502												
DPYSL5	56896	broad.mit.edu	37	2	27164917	27164917	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:27164917G>A	uc002rhu.3	+	10	1347	c.1189G>A	c.(1189-1191)GGA>AGA	p.G397R	DPYSL5_uc002rhv.3_Missense_Mutation_p.G397R	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	397					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTATTCCCGGAGCCGATGC	0.532											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TMEM214	54867	broad.mit.edu	37	2	27263303	27263303	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:27263303C>T	uc002ria.3	+	16	1992	c.1882C>T	c.(1882-1884)CTG>TTG	p.L628L	TMEM214_uc010yle.1_RNA|TMEM214_uc002rib.3_Silent_p.L583L	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN	transmembrane protein 214 isoform 1	628	Helical; (Potential).					integral to membrane	protein binding				0						GCTGCTGCCACTGTGGCACCT	0.612												
KHK	3795	broad.mit.edu	37	2	27317386	27317386	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:27317386G>A	uc002ril.2	+	3	768	c.251G>A	c.(250-252)CGC>CAC	p.R84H	KHK_uc002rim.2_Intron|KHK_uc002rin.2_Missense_Mutation_p.R85H|KHK_uc002rio.2_Intron	NM_000221	NP_000212	P50053	KHK_HUMAN	ketohexokinase isoform a	84					fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGGACCTACGCTACACAGTC	0.562												
SLC5A6	8884	broad.mit.edu	37	2	27430334	27430334	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:27430334G>A	uc002rjd.2	-	3	576	c.185C>T	c.(184-186)GCG>GTG	p.A62V	SLC5A6_uc010eyv.1_Missense_Mutation_p.A62V|SLC5A6_uc002rje.1_Missense_Mutation_p.A62V	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	62					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	TTTGCGGTCCGCCATCAGCAG	0.597												
DNAJC5G	285126	broad.mit.edu	37	2	27500791	27500791	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:27500791G>A	uc002rjl.1	+	4	701	c.283G>A	c.(283-285)GAC>AAC	p.D95N	SLC30A3_uc010ylh.1_5'Flank|DNAJC5G_uc010yli.1_Intron|DNAJC5G_uc002rjm.1_Missense_Mutation_p.D95N	NM_173650	NP_775921	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	95	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			skin(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAAATTTACGACCAGCATGG	0.418												
PLB1	151056	broad.mit.edu	37	2	28815550	28815550	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:28815550C>T	uc002rmb.1	+	32	2211	c.2211C>T	c.(2209-2211)GAC>GAT	p.D737D	PLB1_uc010ezj.1_Silent_p.D726D|PLB1_uc002rmc.2_Silent_p.D425D|PLB1_uc002rmd.1_Silent_p.D247D	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	737	4 X 308-326 AA approximate repeats.|Extracellular (Potential).|3.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)					GACCTGCAGACATCCAAGTTG	0.562												
ALK	238	broad.mit.edu	37	2	29416300	29416300	+	Silent	SNP	C	C	T	rs35500880		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:29416300C>T	uc002rmy.2	-	29	5560	c.4653G>A	c.(4651-4653)CCG>CCA	p.P1551P	ALK_uc010ymo.1_Silent_p.P483P	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	1551	Cytoplasmic (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GTGAGGCCCCCGGAAGTCTCC	0.537			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome			
LCLAT1	253558	broad.mit.edu	37	2	30756096	30756096	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:30756096C>A	uc002rnj.2	+	4	603	c.394C>A	c.(394-396)CTG>ATG	p.L132M	LCLAT1_uc010ymp.1_Translation_Start_Site|LCLAT1_uc002rnk.1_Missense_Mutation_p.L132M|LCLAT1_uc002rnl.2_Missense_Mutation_p.L94M|LCLAT1_uc010ymq.1_Missense_Mutation_p.L94M	NM_182551	NP_872357	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1 isoform 1	132					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			ovary(2)	2						CTGGATGTTCCTGTGGAATTG	0.418												
BIRC6	57448	broad.mit.edu	37	2	32640462	32640462	+	Silent	SNP	G	G	A	rs142938281		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:32640462G>A	uc010ezu.2	+	10	2237	c.2103G>A	c.(2101-2103)CCG>CCA	p.P701P		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	701					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)					TTACCTCTCCGGATTCTGAGA	0.473												
BIRC6	57448	broad.mit.edu	37	2	32750641	32750641	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:32750641G>A	uc010ezu.2	+	59	12000	c.11866G>A	c.(11866-11868)GCC>ACC	p.A3956T		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	3956					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)					AGCAGAGGCTGCCAACAAAAT	0.433												
CRIM1	51232	broad.mit.edu	37	2	36771623	36771623	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:36771623A>G	uc002rpd.2	+	15	2767	c.2728A>G	c.(2728-2730)ATC>GTC	p.I910V		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	910	Extracellular (Potential).				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TGAAAATGATATCGTCCATCT	0.438												
EIF2AK2	5610	broad.mit.edu	37	2	37347260	37347260	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:37347260T>C	uc010ynh.1	-	13	1647	c.1090A>G	c.(1090-1092)ATC>GTC	p.I364V	EIF2AK2_uc010fab.1_Missense_Mutation_p.I323V|EIF2AK2_uc010yng.1_Missense_Mutation_p.I364V|EIF2AK2_uc010fac.2_Missense_Mutation_p.I364V|EIF2AK2_uc010fad.2_Missense_Mutation_p.I311V	NM_002759	NP_002750	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha	364	Protein kinase.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			ovary(2)|lung(2)|pancreas(1)	5		all_hematologic(82;0.248)				TCCATTTGGATGAAAAGGCAC	0.289												
PRKD3	23683	broad.mit.edu	37	2	37520360	37520360	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:37520360C>T	uc002rqd.2	-	2	898	c.343G>A	c.(343-345)GAC>AAC	p.D115N	PRKD3_uc002rqf.1_Missense_Mutation_p.D115N	NM_005813	NP_005804	O94806	KPCD3_HUMAN	protein kinase D3	115					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_hematologic(82;0.21)				GAGTTCATGTCATGGCGAAAG	0.388												
PKDCC	91461	broad.mit.edu	37	2	42282097	42282097	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:42282097C>A	uc002rsg.2	+	4	1230	c.1051C>A	c.(1051-1053)CTC>ATC	p.L351I		NM_138370	NP_612379	Q504Y2	PKDCC_HUMAN	protein kinase-like protein SgK493	351	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(1)	1						CTTCACATACCTCCTGCCTCA	0.572												
PLEKHH2	130271	broad.mit.edu	37	2	43973086	43973086	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:43973086C>T	uc010yny.1	+	24	3720	c.3637C>T	c.(3637-3639)CTG>TTG	p.L1213L		NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	1213	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GACTGTTCGTCTGACATACAA	0.368												
SPTBN1	6711	broad.mit.edu	37	2	54858182	54858182	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:54858182G>A	uc002rxu.2	+	16	3247	c.2998G>A	c.(2998-3000)GGC>AGC	p.G1000S	SPTBN1_uc002rxx.2_Missense_Mutation_p.G987S	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	1000	Spectrin 7.				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)			CAAGCTGACCGGCATGGAGCG	0.617												
FANCL	55120	broad.mit.edu	37	2	58431275	58431275	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:58431275A>G	uc002rzw.3	-	6	528	c.461T>C	c.(460-462)TTG>TCG	p.L154S	FANCL_uc002rzx.3_Missense_Mutation_p.L154S|FANCL_uc010fce.2_Missense_Mutation_p.L154S|FANCL_uc010fcf.1_Missense_Mutation_p.L95S	NM_018062	NP_060532	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L isoform	154					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						CTTTGCCTTCAACTTGAGAGT	0.398								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
PEX13	5194	broad.mit.edu	37	2	61259029	61259029	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:61259029T>C	uc002sau.3	+	2	651	c.568T>C	c.(568-570)TAT>CAT	p.Y190H		NM_002618	NP_002609	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	190	Targeting to peroxisomes.|Lumenal (Potential).|Interaction with PEX19.				cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			GACTATACGGTATCTTTACAG	0.438												
ANXA4	307	broad.mit.edu	37	2	70037735	70037735	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:70037735G>T	uc002sfr.3	+	7	634	c.407G>T	c.(406-408)CGG>CTG	p.R136L	ANXA4_uc010yqn.1_RNA|ANXA4_uc002sfs.3_Missense_Mutation_p.R114L|ANXA4_uc010yqo.1_Missense_Mutation_p.R52L	NM_001153	NP_001144	P09525	ANXA4_HUMAN	annexin IV	134	Annexin 2.				anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity				0						GAATATGGACGGAGCCTTGAA	0.507												
ZNF638	27332	broad.mit.edu	37	2	71577133	71577133	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:71577133G>A	uc002shx.2	+	2	1368	c.1049G>A	c.(1048-1050)CGG>CAG	p.R350Q	ZNF638_uc010fec.2_Missense_Mutation_p.R456Q|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.2_Missense_Mutation_p.R350Q|ZNF638_uc002shy.2_Missense_Mutation_p.R350Q|ZNF638_uc002shz.2_Missense_Mutation_p.R350Q|ZNF638_uc002sia.2_Missense_Mutation_p.R350Q|ZNF638_uc002sib.1_Missense_Mutation_p.R350Q	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	350					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	p.R350Q(1)		pancreas(2)|ovary(1)|skin(1)	4						CAGCAAGAGCGGATCCCACAT	0.418												
FBXO41	150726	broad.mit.edu	37	2	73487618	73487618	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:73487618T>G	uc002sjb.1	-	11	2531	c.2531A>C	c.(2530-2532)CAG>CCG	p.Q844P		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	F-box protein 41	783						intracellular	protein binding|zinc ion binding			breast(2)|pancreas(1)	3						TGCCACCTCCTGGGTGATCTC	0.612												
ALMS1	7840	broad.mit.edu	37	2	73800368	73800368	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:73800368C>T	uc002sje.1	+	18	11478	c.11367C>T	c.(11365-11367)GCC>GCT	p.A3789A	ALMS1_uc002sjf.1_Silent_p.A3745A|ALMS1_uc002sjg.2_Silent_p.A3175A|ALMS1_uc002sjh.1_Silent_p.A3175A	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3787					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						TTGACACTGCCCGGCTGATTC	0.458												
C2orf78	388960	broad.mit.edu	37	2	74044060	74044060	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:74044060T>A	uc002sjr.1	+	3	2831	c.2710T>A	c.(2710-2712)TTT>ATT	p.F904I		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	hypothetical protein LOC388960	904										ovary(2)	2						GAAAGTGCAGTTTTTCATTGA	0.438												
TET3	200424	broad.mit.edu	37	2	74307623	74307623	+	Splice_Site	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:74307623A>G	uc002skb.3	+	3	2181	c.2181_splice	c.e3-2	p.R727_splice		NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3								metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						CTCCCTCTTCAGGTATGGAGA	0.527												
DCTN1	1639	broad.mit.edu	37	2	74592756	74592756	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:74592756C>T	uc002skx.2	-	25	3226	c.2915G>A	c.(2914-2916)CGG>CAG	p.R972Q	SLC4A5_uc002skl.2_5'Flank|DCTN1_uc002skt.1_5'Flank|DCTN1_uc002skv.2_Missense_Mutation_p.R838Q|DCTN1_uc002sku.2_Missense_Mutation_p.R838Q|DCTN1_uc002skw.1_Missense_Mutation_p.R948Q|DCTN1_uc010ffd.2_Missense_Mutation_p.R952Q|DCTN1_uc002sky.2_Missense_Mutation_p.R935Q	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	972	Potential.				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5						GAGGCTCAGCCGCACATTGGC	0.577												
SEMA4F	10505	broad.mit.edu	37	2	74907036	74907036	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:74907036C>T	uc002sna.1	+	14	2124	c.2013C>T	c.(2011-2013)CTC>CTT	p.L671L	SEMA4F_uc010ffr.1_Silent_p.L283L|SEMA4F_uc002snb.1_Silent_p.L283L|SEMA4F_uc002snc.1_Silent_p.L516L	NM_004263	NP_004254	O95754	SEM4F_HUMAN	semaphorin W precursor	671	Helical; (Potential).				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			ovary(2)|pancreas(1)|skin(1)	4						TGGGGATTCTCGCAGCATCCC	0.627												
CD8A	925	broad.mit.edu	37	2	87016520	87016520	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:87016520T>C	uc002srt.2	-	4	1440	c.551A>G	c.(550-552)TAC>TGC	p.Y184C	RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Missense_Mutation_p.Y184C|CD8A_uc010ytn.1_Missense_Mutation_p.Y225C|CD8A_uc002sru.2_Intron	NM_001768	NP_001759	P01732	CD8A_HUMAN	CD8 antigen alpha polypeptide isoform 1	184	Helical; (Potential).				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			ovary(1)	1						CGCCCAGATGTAGATATCACA	0.612												
ITPRIPL1	150771	broad.mit.edu	37	2	96993744	96993744	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:96993744C>T	uc002svx.2	+	3	1710	c.1375C>T	c.(1375-1377)CGG>TGG	p.R459W	ITPRIPL1_uc010yuk.1_Missense_Mutation_p.R451W|ITPRIPL1_uc002svy.2_Missense_Mutation_p.R467W|ITPRIPL1_uc010yul.1_Missense_Mutation_p.R451W	NM_001008949	NP_001008949	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-triphosphate receptor interacting	459	Cytoplasmic (Potential).					integral to membrane				central_nervous_system(2)|ovary(1)	3						CCTCTTGCTACGGCTGCCCCT	0.562												
FER1L5	90342	broad.mit.edu	37	2	97368926	97368926	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:97368926C>T	uc010fia.2	+	49	5642	c.5642C>T	c.(5641-5643)CCG>CTG	p.P1881L	FER1L5_uc002sws.3_Missense_Mutation_p.P590L|FER1L5_uc002swt.3_Missense_Mutation_p.P590L|FER1L5_uc010yus.1_Missense_Mutation_p.P589L	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	fer-1-like 5 isoform 2	1881						integral to membrane				ovary(1)	1						ATGCCCCTCCCGGCTCGGCAC	0.552												
TMEM131	23505	broad.mit.edu	37	2	98376193	98376193	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:98376193C>T	uc002syh.3	-	39	5357	c.5128G>A	c.(5128-5130)GTC>ATC	p.V1710I	TMEM131_uc002syg.2_Missense_Mutation_p.V90I	NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	1710	Ser-rich.					integral to membrane				ovary(4)|central_nervous_system(2)	6						GGGTTGCTGACGGGACTCCAC	0.458												
VWA3B	200403	broad.mit.edu	37	2	98928687	98928687	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:98928687G>A	uc002syo.2	+	28	4024	c.3760G>A	c.(3760-3762)GCC>ACC	p.A1254T	VWA3B_uc002syr.1_Silent_p.R626R|VWA3B_uc002sys.2_RNA	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1254										ovary(3)|large_intestine(2)|skin(1)	6						CTTCCCCGCGGCCGGGCGTCT	0.597												
MFSD9	84804	broad.mit.edu	37	2	103340288	103340288	+	Missense_Mutation	SNP	C	C	T	rs151282750	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:103340288C>T	uc002tcb.2	-	5	576	c.508G>A	c.(508-510)GGA>AGA	p.G170R	MFSD9_uc010fja.2_RNA	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing	170	Helical; (Potential).				transmembrane transport	integral to membrane|plasma membrane	transporter activity			ovary(2)|breast(2)	4						TTGAAGTGTCCGATTACAAGC	0.498												
TGFBRAP1	9392	broad.mit.edu	37	2	105885907	105885907	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:105885907C>T	uc002tcq.2	-	11	2312	c.2228G>A	c.(2227-2229)CGC>CAC	p.R743H	TGFBRAP1_uc010fjc.2_Missense_Mutation_p.R512H|TGFBRAP1_uc002tcr.3_Missense_Mutation_p.R743H	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor	743					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|skin(1)	2						GGTGGCGTGGCGGTTCAGCAG	0.647												
SULT1C3	442038	broad.mit.edu	37	2	108863670	108863670	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:108863670A>G	uc010ywo.1	+	1	20	c.20A>G	c.(19-21)AAC>AGC	p.N7S		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member	7						cytoplasm	alcohol sulfotransferase activity			skin(1)	1						ATTGAGAAAAACGCTCCCACG	0.348												
CCDC138	165055	broad.mit.edu	37	2	109405348	109405348	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:109405348G>A	uc002ten.1	+	3	252	c.192G>A	c.(190-192)TCG>TCA	p.S64S	CCDC138_uc002teo.1_Silent_p.S64S|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR	NM_144978	NP_659415	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	64											0						TTGGTTCATCGTTAAAATATT	0.358												
ACOXL	55289	broad.mit.edu	37	2	111789258	111789258	+	Missense_Mutation	SNP	G	G	A	rs151050088		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:111789258G>A	uc002tgr.3	+	16	1650	c.1426G>A	c.(1426-1428)GTG>ATG	p.V476M	ACOXL_uc010fkc.2_Missense_Mutation_p.V446M|ACOXL_uc010yxk.1_Missense_Mutation_p.V446M	NM_001105516	NP_001098986	Q9NUZ1	ACOXL_HUMAN	acyl-Coenzyme A oxidase-like 2	476					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity				0						TCTGCACCACGTGGCTTCTCT	0.488												
MERTK	10461	broad.mit.edu	37	2	112733042	112733042	+	Silent	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:112733042T>C	uc002thk.1	+	7	1259	c.1137T>C	c.(1135-1137)ACT>ACC	p.T379T	MERTK_uc002thl.1_Silent_p.T203T	NM_006343	NP_006334	Q12866	MERTK_HUMAN	MER receptor tyrosine kinase precursor	379	Fibronectin type-III 1.|Extracellular (Potential).				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						CCAGCACGACTGAAGGAGGTA	0.483												
ZC3H6	376940	broad.mit.edu	37	2	113089407	113089407	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:113089407C>A	uc002thq.1	+	12	3306	c.2912C>A	c.(2911-2913)CCT>CAT	p.P971H		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	971							nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4						AATTTTGATCCTAGGCTTCAC	0.428												
PAX8	7849	broad.mit.edu	37	2	113999253	113999253	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:113999253C>T	uc010yxt.1	-	7	818	c.652G>A	c.(652-654)GGA>AGA	p.G218R	PAX8_uc010yxu.1_Missense_Mutation_p.G218R|PAX8_uc010yxv.1_Missense_Mutation_p.G218R|PAX8_uc002tjm.2_Missense_Mutation_p.G218R|PAX8_uc002tjn.2_Missense_Mutation_p.G218R|PAX8_uc010fku.1_Missense_Mutation_p.G218R|LOC654433_uc002tjq.3_Intron|LOC654433_uc010fks.2_Intron|LOC654433_uc010fkt.2_Intron|LOC654433_uc002tjr.3_Intron	NM_003466	NP_003457	Q06710	PAX8_HUMAN	paired box 8 isoform PAX8A	218					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity			ovary(1)|lung(1)	2						TTTCGGGGTCCGCTGCTGCTG	0.582			T	PPARG	follicular thyroid		Thyroid dysgenesis 					
DPP10	57628	broad.mit.edu	37	2	116534834	116534834	+	Silent	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:116534834A>G	uc002tla.1	+	14	1729	c.1272A>G	c.(1270-1272)GAA>GAG	p.E424E	DPP10_uc002tlb.1_Silent_p.E374E|DPP10_uc002tlc.1_Silent_p.E420E|DPP10_uc002tle.2_Silent_p.E428E|DPP10_uc002tlf.1_Silent_p.E417E	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	424	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						GAAACTGGGAAGTGATAAAGA	0.373												
PTPN4	5775	broad.mit.edu	37	2	120692467	120692467	+	Missense_Mutation	SNP	G	G	A	rs140214166	by1000genomes	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:120692467G>A	uc002tmf.1	+	15	2059	c.1288G>A	c.(1288-1290)GAA>AAA	p.E430K	PTPN4_uc010flj.1_Missense_Mutation_p.E143K|PTPN4_uc010yyr.1_Missense_Mutation_p.E63K	NM_002830	NP_002821	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type	430						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			ovary(2)	2					Alendronate(DB00630)	TTCCCCAAGCGAAGTGTTTGT	0.398												
GLI2	2736	broad.mit.edu	37	2	121743872	121743872	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:121743872G>A	uc010flp.2	+	12	2005	c.1975G>A	c.(1975-1977)GGG>AGG	p.G659R	GLI2_uc002tmq.1_Missense_Mutation_p.G331R|GLI2_uc002tmr.1_Missense_Mutation_p.G314R|GLI2_uc002tmt.3_Missense_Mutation_p.G331R|GLI2_uc002tmu.3_Missense_Mutation_p.G314R|GLI2_uc002tmw.1_Missense_Mutation_p.G642R	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	659					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				GTCCAGCCCCGGGGCCCAGTC	0.672												
CLASP1	23332	broad.mit.edu	37	2	122154732	122154732	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:122154732C>T	uc002tnc.2	-	29	3497	c.3107G>A	c.(3106-3108)AGT>AAT	p.S1036N	CLASP1_uc010yyv.1_Missense_Mutation_p.S121N|CLASP1_uc002tmz.2_Missense_Mutation_p.S121N|CLASP1_uc002tna.2_Missense_Mutation_p.S121N|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.S1016N|CLASP1_uc010yza.1_Missense_Mutation_p.S1008N|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	1036					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			ovary(1)|central_nervous_system(1)	2	Renal(3;0.0496)					CACGTCTGAACTCTTTGGTTC	0.418												
NCKAP5	344148	broad.mit.edu	37	2	133489555	133489555	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:133489555C>T	uc002ttp.2	-	17	5572	c.5198G>A	c.(5197-5199)CGC>CAC	p.R1733H	NCKAP5_uc002ttq.2_Missense_Mutation_p.R414H	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1733							protein binding				0						TCCTGTCGAGCGATTTCCCGA	0.547												
NCKAP5	344148	broad.mit.edu	37	2	133542365	133542365	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:133542365C>T	uc002ttp.2	-	14	2393	c.2019G>A	c.(2017-2019)GCG>GCA	p.A673A	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	673							protein binding				0						CACCGTCTTCCGCATCAAATA	0.438												
R3HDM1	23518	broad.mit.edu	37	2	136399348	136399348	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:136399348A>G	uc002tuo.2	+	15	1832	c.1462A>G	c.(1462-1464)AAC>GAC	p.N488D	R3HDM1_uc010fni.2_Missense_Mutation_p.N486D|R3HDM1_uc002tup.2_Missense_Mutation_p.N432D|R3HDM1_uc010zbh.1_Intron	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	488							nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)		TATTCTGATCAACCCACAAAC	0.413												
LCT	3938	broad.mit.edu	37	2	136567157	136567157	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:136567157G>A	uc002tuu.1	-	8	2771	c.2760C>T	c.(2758-2760)GGC>GGT	p.G920G		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	920	3.|Extracellular (Potential).|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		CATCCCACGCGCCTTCAATCT	0.537												
LRP1B	53353	broad.mit.edu	37	2	141299356	141299356	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:141299356G>A	uc002tvj.1	-	44	8351	c.7379C>T	c.(7378-7380)ACC>ATC	p.T2460I		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2460	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACAGCTATTGGTGTCATTGGC	0.348										TSP Lung(27;0.18)		
LRP1B	53353	broad.mit.edu	37	2	141680553	141680553	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:141680553C>T	uc002tvj.1	-	21	4272	c.3300G>A	c.(3298-3300)AAG>AAA	p.K1100K	LRP1B_uc010fnl.1_Silent_p.K282K	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1100	Extracellular (Potential).|LDL-receptor class A 9.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AACAGGAAAACTTGGTTTTGT	0.443										TSP Lung(27;0.18)		
FMNL2	114793	broad.mit.edu	37	2	153471485	153471485	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:153471485G>A	uc002tye.2	+	12	1550	c.1183G>A	c.(1183-1185)GTG>ATG	p.V395M		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	formin-like 2	395	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|ovary(1)	3						CTTGGAGAGGGTGGAAGAACT	0.403												
CYTIP	9595	broad.mit.edu	37	2	158300372	158300372	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:158300372C>A	uc002tzj.1	-	1	233	c.161G>T	c.(160-162)CGG>CTG	p.R54L	CYTIP_uc010zcl.1_Intron	NM_004288	NP_004279	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	54					regulation of cell adhesion	cell cortex|early endosome	protein binding			ovary(1)|kidney(1)|skin(1)	3						CTTTCGTCCCCGAGGCAGAGT	0.473												
LY75	4065	broad.mit.edu	37	2	160750520	160750520	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:160750520T>C	uc002ubc.3	-	3	611	c.542A>G	c.(541-543)CAT>CGT	p.H181R	LY75_uc002ubb.3_Missense_Mutation_p.H181R|LY75_uc010fos.2_Missense_Mutation_p.H181R|LY75_uc010fot.1_Missense_Mutation_p.H181R	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75 precursor	181	Extracellular (Potential).|Fibronectin type-II.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0				COAD - Colon adenocarcinoma(177;0.132)		AATGCAATCATGATGCCAGGT	0.448												
SLC4A10	57282	broad.mit.edu	37	2	162711564	162711564	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:162711564G>T	uc002ubx.3	+	5	685	c.501G>T	c.(499-501)TTG>TTT	p.L167F	SLC4A10_uc010fpa.1_Missense_Mutation_p.L179F|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.L167F|SLC4A10_uc010zcs.1_Missense_Mutation_p.L178F	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	167	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						TGCACAGCTTGTTTGAATTGA	0.398												
SLC4A10	57282	broad.mit.edu	37	2	162804217	162804217	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:162804217A>G	uc002ubx.3	+	17	2429	c.2245A>G	c.(2245-2247)AGC>GGC	p.S749G	SLC4A10_uc002uby.3_Missense_Mutation_p.S719G|SLC4A10_uc010zcs.1_Missense_Mutation_p.S730G	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	749	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						GTTCAAGACTAGCAGATATTT	0.378												
CSRNP3	80034	broad.mit.edu	37	2	166535528	166535528	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:166535528G>T	uc002udf.2	+	7	1399	c.1023G>T	c.(1021-1023)GAG>GAT	p.E341D	CSRNP3_uc002udg.2_Missense_Mutation_p.E341D	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	341	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						GCCAAGGAGAGGAGGAGGAAG	0.483												
SCN1A	6323	broad.mit.edu	37	2	166911252	166911252	+	Silent	SNP	A	A	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:166911252A>C	uc010zcz.1	-	4	516	c.498T>G	c.(496-498)ACT>ACG	p.T166T	SCN1A_uc002udo.3_Silent_p.T35T|SCN1A_uc010fpk.2_Silent_p.T35T	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	166	Helical; Name=S2 of repeat I; (By similarity).|I.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GTGATTCAAAAGTATATATTC	0.328												
SCN9A	6335	broad.mit.edu	37	2	167055217	167055217	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:167055217C>G	uc010fpl.2	-	27	6240	c.5899G>C	c.(5899-5901)GAC>CAC	p.D1967H	uc002udp.2_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	1978						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTCCCTTTGTCTTCCTTTTCT	0.348												
LRP2	4036	broad.mit.edu	37	2	170060632	170060632	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:170060632T>C	uc002ues.2	-	42	8078	c.7865A>G	c.(7864-7866)GAC>GGC	p.D2622G		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2622	LDL-receptor class B 29.|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)	ACCTGACCCGTCATATTTGTT	0.438												
EVX2	344191	broad.mit.edu	37	2	176947040	176947040	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:176947040G>A	uc010zeu.1	-	2	751	c.565C>T	c.(565-567)CGG>TGG	p.R189W		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	even-skipped homeobox 2	189	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CGGTAGCGCCGCACTTGATCC	0.721												
TTN	7273	broad.mit.edu	37	2	179398049	179398049	+	Silent	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:179398049C>A	uc010zfg.1	-	307	95813	c.95589G>T	c.(95587-95589)ACG>ACT	p.T31863T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.T25558T|TTN_uc010zfi.1_Silent_p.T25491T|TTN_uc010zfj.1_Silent_p.T25366T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32790							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)			TATAATAACCCGTGTCTTCAG	0.488												
TTN	7273	broad.mit.edu	37	2	179400960	179400960	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:179400960A>G	uc010zfg.1	-	306	93034	c.92810T>C	c.(92809-92811)CTA>CCA	p.L30937P	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.L24632P|TTN_uc010zfi.1_Missense_Mutation_p.L24565P|TTN_uc010zfj.1_Missense_Mutation_p.L24440P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	31864							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)			TCTGACATTTAGATTTCTCAG	0.423												
TTN	7273	broad.mit.edu	37	2	179479424	179479424	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:179479424C>A	uc010zfg.1	-	210	41337	c.41113G>T	c.(41113-41115)GGG>TGG	p.G13705W	uc002ump.1_RNA|TTN_uc010zfh.1_Missense_Mutation_p.G7400W|TTN_uc010zfi.1_Missense_Mutation_p.G7333W|TTN_uc010zfj.1_Missense_Mutation_p.G7208W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14632							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)			ATCTTGGTCCCAGCTTTTACA	0.418												
TTN	7273	broad.mit.edu	37	2	179499476	179499476	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:179499476A>G	uc010zfg.1	-	178	34645	c.34421T>C	c.(34420-34422)ATT>ACT	p.I11474T	TTN_uc010zfh.1_Missense_Mutation_p.I5169T|TTN_uc010zfi.1_Missense_Mutation_p.I5102T|TTN_uc010zfj.1_Missense_Mutation_p.I4977T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12401							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)			GGCAGTTGTAATTGCATTAAG	0.423												
SESTD1	91404	broad.mit.edu	37	2	179982318	179982318	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:179982318G>A	uc002uni.3	-	14	1615	c.1465C>T	c.(1465-1467)CGA>TGA	p.R489*	SESTD1_uc002unh.3_5'UTR	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	489	Spectrin 2.				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTTAACCTTCGCACATCTACC	0.348												
NEUROD1	4760	broad.mit.edu	37	2	182543295	182543295	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:182543295C>T	uc002uof.2	-	2	529	c.293G>A	c.(292-294)CGT>CAT	p.R98H	CERKL_uc002uod.1_Intron	NM_002500	NP_002491	Q13562	NDF1_HUMAN	neurogenic differentiation 1	98					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CAATTTAAAACGCTCCAGGCG	0.463												
PMS1	5378	broad.mit.edu	37	2	190732629	190732629	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:190732629A>G	uc002urh.3	+	11	2976	c.2447A>G	c.(2446-2448)AAT>AGT	p.N816S	PMS1_uc002urk.3_Missense_Mutation_p.N777S|PMS1_uc002uri.3_Missense_Mutation_p.N654S|PMS1_uc010zgc.1_Missense_Mutation_p.N640S|PMS1_uc010zgd.1_Missense_Mutation_p.N640S|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Intron|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Missense_Mutation_p.N439S|PMS1_uc002urm.2_RNA	NM_000534	NP_000525	P54277	PMS1_HUMAN	postmeiotic segregation 1 isoform a	816					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			CTTACAGCGAATGGTTTCAAG	0.333			Mis|N			colorectal|endometrial|ovarian		Direct_reversal_of_damage|MMR				
MFSD6	54842	broad.mit.edu	37	2	191301592	191301592	+	Nonsense_Mutation	SNP	T	T	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:191301592T>G	uc002urz.2	+	3	1161	c.837T>G	c.(835-837)TAT>TAG	p.Y279*		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing	279					transmembrane transport	integral to membrane				ovary(2)	2						TGCTTGTTTATGATCAACAAG	0.428												
STAT4	6775	broad.mit.edu	37	2	191898232	191898232	+	Silent	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:191898232C>A	uc002usm.1	-	20	2090	c.1836G>T	c.(1834-1836)GTG>GTT	p.V612V	STAT4_uc002usn.1_Silent_p.V612V|STAT4_uc010zgk.1_Silent_p.V457V|STAT4_uc002uso.2_Silent_p.V612V	NM_003151	NP_003142	Q14765	STAT4_HUMAN	signal transducer and activator of transcription	612	SH2.				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CAGAATGGTCCACCCAGGTGA	0.373												
SF3B1	23451	broad.mit.edu	37	2	198268475	198268475	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:198268475T>C	uc002uue.2	-	12	1601	c.1553A>G	c.(1552-1554)CAG>CGG	p.Q518R		NM_012433	NP_036565	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1 isoform 1	518					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			pancreas(3)|ovary(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATCAGTAATCTGACGCAATGC	0.383												
SATB2	23314	broad.mit.edu	37	2	200298107	200298107	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:200298107C>T	uc002uuy.1	-	3	1117	c.300G>A	c.(298-300)GCG>GCA	p.A100A	SATB2_uc010fsq.1_Silent_p.A100A|SATB2_uc002uuz.1_Silent_p.A100A|SATB2_uc002uva.1_Silent_p.A100A	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	100						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						GGGCCAGGAGCGCAGTCTCCA	0.537												
FAM126B	285172	broad.mit.edu	37	2	201857667	201857667	+	Missense_Mutation	SNP	C	C	T	rs80095445		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:201857667C>T	uc002uws.3	-	9	874	c.686G>A	c.(685-687)CGA>CAA	p.R229Q	FAM126B_uc002uwu.2_Missense_Mutation_p.R147Q|FAM126B_uc002uwv.2_Missense_Mutation_p.R229Q	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	hypothetical protein LOC285172	229						intracellular				ovary(1)	1						CAATACTATTCGACCACAGAG	0.368												
ALS2CR4	65062	broad.mit.edu	37	2	202494478	202494478	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:202494478C>T	uc002uyh.1	-	9	752	c.651G>A	c.(649-651)GTG>GTA	p.V217V	ALS2CR4_uc002uyg.1_Silent_p.V209V|ALS2CR4_uc010zho.1_Silent_p.V12V|ALS2CR4_uc010zhp.1_RNA	NM_001044385	NP_001037850	Q96Q45	TM237_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	241						integral to membrane	protein binding				0						CTGTAAGTGCCACATCTCTGG	0.418												
ALS2	57679	broad.mit.edu	37	2	202569184	202569184	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:202569184G>A	uc002uyo.2	-	32	5187	c.4831C>T	c.(4831-4833)CGG>TGG	p.R1611W	ALS2_uc010ftl.2_RNA	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	1611	VPS9.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			skin(5)|lung(1)|breast(1)	7						TACCTGGCCCGTAGCACCACA	0.438												
FZD7	8324	broad.mit.edu	37	2	202899487	202899487	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:202899487G>T	uc002uyw.1	+	1	178	c.117G>T	c.(115-117)AAG>AAT	p.K39N		NM_003507	NP_003498	O75084	FZD7_HUMAN	frizzled 7 precursor	39	Extracellular (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(2)|ovary(1)|breast(1)	4						ACGGAGAGAAGGGCATCTCCG	0.706												
BMPR2	659	broad.mit.edu	37	2	203384850	203384850	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:203384850G>A	uc002uzf.3	+	7	2041	c.893G>A	c.(892-894)TGG>TAG	p.W298*	BMPR2_uc010ftr.2_Nonsense_Mutation_p.W298*	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	298	Protein kinase.|Cytoplasmic (Potential).				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						ACAAGTGACTGGGTAAGCTCT	0.363												
ICA1L	130026	broad.mit.edu	37	2	203686126	203686126	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:203686126A>G	uc002uzh.1	-	5	478	c.314T>C	c.(313-315)ATG>ACG	p.M105T	ICA1L_uc002uzi.1_Missense_Mutation_p.M105T|ICA1L_uc002uzj.2_Missense_Mutation_p.M105T	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like isoform 1	105	AH.										0						GGCATCCATCATTTTGCCAGC	0.388												
C2orf67	151050	broad.mit.edu	37	2	210993825	210993825	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:210993825G>A	uc002vds.2	-	3	1368	c.1160C>T	c.(1159-1161)GCT>GTT	p.A387V	C2orf67_uc002vdt.2_Missense_Mutation_p.A387V|C2orf67_uc002vdw.2_Missense_Mutation_p.A387V|C2orf67_uc002vdv.2_Missense_Mutation_p.A387V|C2orf67_uc002vdx.1_Missense_Mutation_p.A387V	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	hypothetical protein LOC151050	387										ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)		TGAAATCTGAGCTTGAAGCCA	0.428												
USP37	57695	broad.mit.edu	37	2	219423238	219423238	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:219423238T>C	uc002vie.2	-	4	592	c.139A>G	c.(139-141)ATT>GTT	p.I47V	USP37_uc010fvs.1_Missense_Mutation_p.I47V|USP37_uc010zkf.1_Missense_Mutation_p.I47V|USP37_uc002vif.2_Missense_Mutation_p.I47V|USP37_uc002vig.2_Intron|USP37_uc010zkg.1_Missense_Mutation_p.I47V	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	47					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(3)|ovary(1)|prostate(1)	5		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		ATCCTTGGAATTCCTCCAGTA	0.348												
STK36	27148	broad.mit.edu	37	2	219558685	219558685	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:219558685G>A	uc002viu.2	+	19	2581	c.2315G>A	c.(2314-2316)CGG>CAG	p.R772Q	STK36_uc002viv.2_Missense_Mutation_p.R772Q|STK36_uc002viw.2_5'Flank|STK36_uc002vix.2_5'Flank	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	772					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CTTGTCTTTCGGCTCCAAAAC	0.438												
WNT6	7475	broad.mit.edu	37	2	219736402	219736402	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:219736402C>T	uc002vjc.1	+	3	712	c.497C>T	c.(496-498)GCC>GTC	p.A166V		NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family,	166					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			ovary(2)|skin(1)	3		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCAGCGCCGCCTGGGAGTGG	0.448												
CCDC108	255101	broad.mit.edu	37	2	219895916	219895916	+	Silent	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:219895916G>T	uc002vjl.1	-	8	1011	c.927C>A	c.(925-927)CCC>CCA	p.P309P	CCDC108_uc010fwa.1_5'Flank|CCDC108_uc010zkp.1_Silent_p.P298P|CCDC108_uc010zkq.1_Silent_p.P244P	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	309						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGCTGTAAGGGGCTGAAAGG	0.652												
PTPRN	5798	broad.mit.edu	37	2	220162723	220162723	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:220162723G>A	uc002vkz.2	-	13	1860	c.1771C>T	c.(1771-1773)CTG>TTG	p.L591L	PTPRN_uc010zlc.1_Silent_p.L501L|PTPRN_uc002vla.2_Silent_p.L562L	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	591	Helical; (Potential).				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		AGAGCCACCAGCAGCCCAGCC	0.677												
PTPRN	5798	broad.mit.edu	37	2	220166399	220166399	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:220166399C>A	uc002vkz.2	-	7	1126	c.1037G>T	c.(1036-1038)GGG>GTG	p.G346V	PTPRN_uc010zlc.1_Missense_Mutation_p.G256V|PTPRN_uc002vla.2_Missense_Mutation_p.G346V	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	346	Extracellular (Potential).				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CAGCTCTACCCCATAGCCCGC	0.612												
GMPPA	29926	broad.mit.edu	37	2	220371072	220371072	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:220371072G>A	uc002vlr.2	+	12	1158	c.1090G>A	c.(1090-1092)GAT>AAT	p.D364N	GMPPA_uc002vls.2_Missense_Mutation_p.D364N|GMPPA_uc002vlt.2_Missense_Mutation_p.D417N|GMPPA_uc002vlu.2_Missense_Mutation_p.D417N|GMPPA_uc002vlv.2_Missense_Mutation_p.D364N|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Missense_Mutation_p.D364N	NM_013335	NP_037467	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	364					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TAACCCCAACGATCCCCGAGC	0.657												
ACCN4	55515	broad.mit.edu	37	2	220379398	220379398	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:220379398G>A	uc002vma.2	+	1	347	c.333G>A	c.(331-333)AGG>AGA	p.R111R	ACCN4_uc010fwi.1_Silent_p.R111R|ACCN4_uc010fwj.1_Silent_p.R111R|ACCN4_uc002vly.1_Silent_p.R111R|ACCN4_uc002vlz.2_Silent_p.R111R|ACCN4_uc002vmb.2_5'Flank	NM_182847	NP_878267	Q96FT7	ACCN4_HUMAN	amiloride-sensitive cation channel 4 isoform 2	111						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity			ovary(2)	2		Renal(207;0.0183)		Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156)		TGCTGGCTAGGGAGGGACAGG	0.627												
OBSL1	23363	broad.mit.edu	37	2	220432935	220432935	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:220432935C>T	uc010fwk.2	-	2	1181	c.1124G>A	c.(1123-1125)CGT>CAT	p.R375H	OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Missense_Mutation_p.R375H|OBSL1_uc002vmj.2_Translation_Start_Site	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	375	Ig-like 4.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CTGGTCCTCACGGAACCAGGC	0.637											OREG0003988	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
KIAA1486	57624	broad.mit.edu	37	2	226447270	226447270	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:226447270G>A	uc002voe.2	+	4	1312	c.1137G>A	c.(1135-1137)TCG>TCA	p.S379S	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.S149S	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	379	Pro-rich.									ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		CCGGGGCGTCGCCCTCCACGC	0.667												
COL4A3	1285	broad.mit.edu	37	2	228128641	228128641	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:228128641G>A	uc002vom.1	+	21	1458	c.1296G>A	c.(1294-1296)CCG>CCA	p.P432P	COL4A3_uc002von.1_Silent_p.P432P|COL4A3_uc002voo.1_Silent_p.P432P|COL4A3_uc002vop.1_Silent_p.P432P|uc002voq.1_Intron|uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	432	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CAGGATCACCGGGACCTCCAG	0.577												
TRIP12	9320	broad.mit.edu	37	2	230659897	230659897	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:230659897G>A	uc002vpw.1	-	25	3850	c.3741C>T	c.(3739-3741)GGC>GGT	p.G1247G	TRIP12_uc002vpx.1_Silent_p.G1295G|TRIP12_uc002vpy.1_Silent_p.G977G	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1247					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GTCCTTACCTGCCTCCTGTCC	0.448												
TRIP12	9320	broad.mit.edu	37	2	230673018	230673018	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:230673018A>T	uc002vpw.1	-	15	2254	c.2145T>A	c.(2143-2145)GAT>GAA	p.D715E	TRIP12_uc002vpx.1_Missense_Mutation_p.D763E|TRIP12_uc002vpy.1_Missense_Mutation_p.D418E|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Missense_Mutation_p.D721E	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	715					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GTGGAACAAGATCAATCTGTT	0.343												
SLC16A14	151473	broad.mit.edu	37	2	230911029	230911029	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:230911029G>A	uc002vqd.1	-	4	1176	c.813C>T	c.(811-813)GCC>GCT	p.A271A	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.2_Silent_p.A271A|SLC16A14_uc002vqf.2_Silent_p.A271A	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	solute carrier family 16 (monocarboxylic acid	271	Extracellular (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(4)|skin(2)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TCCTGTGCCCGGCCTGATCGG	0.587												
GPR55	9290	broad.mit.edu	37	2	231775360	231775360	+	Silent	SNP	G	G	A	rs139163265	by1000genomes	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:231775360G>A	uc002vrg.2	-	2	511	c.318C>T	c.(316-318)TAC>TAT	p.Y106Y	GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Silent_p.Y106Y	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	106	Helical; Name=3; (Potential).				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		AGACGCTTCCGTACATGCTGA	0.582												
ALPP	250	broad.mit.edu	37	2	233246071	233246071	+	Missense_Mutation	SNP	G	G	A	rs146681711		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:233246071G>A	uc002vsq.2	+	10	1468	c.1303G>A	c.(1303-1305)GAG>AAG	p.E435K	ALPP_uc002vsr.2_RNA	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	435						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TACCGAGAGCGAGAGCGGTGA	0.672												
ALPI	248	broad.mit.edu	37	2	233323406	233323406	+	Silent	SNP	G	G	A	rs144515683		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:233323406G>A	uc002vst.3	+	10	1325	c.1248G>A	c.(1246-1248)CCG>CCA	p.P416P	ALPI_uc002vsu.3_Silent_p.P327P	NM_001631	NP_001622	P09923	PPBI_HUMAN	intestinal alkaline phosphatase precursor	416					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)		GCAATGGCCCGGGCTACGTGT	0.622												
KCNJ13	3769	broad.mit.edu	37	2	233633173	233633173	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:233633173G>T	uc002vto.2	-	2	854	c.811C>A	c.(811-813)CTT>ATT	p.L271I	GIGYF2_uc010zmj.1_Intron|GIGYF2_uc002vtg.2_Intron|GIGYF2_uc002vtj.3_Intron|GIGYF2_uc002vti.3_Intron|GIGYF2_uc002vtk.3_Intron|GIGYF2_uc002vth.3_Intron|GIGYF2_uc010zmk.1_Intron|GIGYF2_uc010zml.1_Intron|KCNJ13_uc002vtn.2_3'UTR|KCNJ13_uc002vtp.2_Missense_Mutation_p.L271I	NM_002242	NP_002233	O60928	IRK13_HUMAN	potassium inwardly-rectifying channel J13	271	Cytoplasmic (By similarity).					voltage-gated potassium channel complex	inward rectifier potassium channel activity				0		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		ATTGCTGAAAGGAATACAACT	0.433												
UGT1A5	54579	broad.mit.edu	37	2	234622109	234622109	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:234622109G>A	uc002vuw.2	+	1	472	c.472G>A	c.(472-474)GCG>ACG	p.A158T	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Missense_Mutation_p.A158T	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	158					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		TCACCTCTGCGCGGCGGTGCT	0.493												
ARL4C	10123	broad.mit.edu	37	2	235404797	235404797	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:235404797G>A	uc002vvn.2	-	1	897	c.434C>T	c.(433-435)GCG>GTG	p.A145V	ARL4C_uc002vvm.3_Missense_Mutation_p.A145V	NM_005737	NP_005728	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	145					endocytic recycling|small GTPase mediated signal transduction	cytoplasm|filopodium|nucleus|plasma membrane	alpha-tubulin binding|GTP binding|GTPase activity			skin(1)	1		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		CTCGTGCAGCGCCAGCTGCTT	0.637												
AGAP1	116987	broad.mit.edu	37	2	236706491	236706491	+	Silent	SNP	C	C	T	rs150458947		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:236706491C>T	uc002vvs.2	+	7	1357	c.762C>T	c.(760-762)TCC>TCT	p.S254S	AGAP1_uc002vvt.2_Silent_p.S254S	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	254	Small GTPase-like.				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						GCCATTCCTCCGTCTGTTCCG	0.507												
LRRFIP1	9208	broad.mit.edu	37	2	238672491	238672491	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:238672491A>G	uc002vxe.2	+	11	2427	c.2135A>G	c.(2134-2136)CAA>CGA	p.Q712R	LRRFIP1_uc002vxc.2_Intron|LRRFIP1_uc010znm.1_Intron|LRRFIP1_uc002vxd.2_Missense_Mutation_p.Q688R|LRRFIP1_uc002vxf.2_Missense_Mutation_p.Q656R	NM_001137552	NP_001131024	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting	712					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			breast(3)	3		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		GGTGCCACTCAAAGCAGTCCT	0.488												
TRAF3IP1	26146	broad.mit.edu	37	2	239234487	239234487	+	Missense_Mutation	SNP	T	T	C	rs143375220		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:239234487T>C	uc002vye.2	+	3	349	c.230T>C	c.(229-231)ATA>ACA	p.I77T	TRAF3IP1_uc002vyf.2_Missense_Mutation_p.I77T	NM_015650	NP_056465	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting	77	Abolishes microtubules-binding when missing.					cytoplasm|cytoskeleton	protein binding			ovary(1)	1		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		CAAAAGGCCATAGACGTGGTT	0.433												
PRR21	643905	broad.mit.edu	37	2	240981360	240981360	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:240981360C>T	uc010zod.1	-	1	1040	c.1040G>A	c.(1039-1041)CGC>CAC	p.R347H		NM_001080835	NP_001074304	Q8WXC7	PRR21_HUMAN	proline rich 21	347										ovary(1)|skin(1)	2						GCTGAAGAGGCGTAGATGAAG	0.557												
PRR21	643905	broad.mit.edu	37	2	240982089	240982089	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:240982089G>A	uc010zod.1	-	1	311	c.311C>T	c.(310-312)ACG>ATG	p.T104M		NM_001080835	NP_001074304	Q8WXC7	PRR21_HUMAN	proline rich 21	104	Pro-rich.									ovary(1)|skin(1)	2						ACGAAGGGCCGTGGGTGAAGA	0.622												
KIF1A	547	broad.mit.edu	37	2	241664737	241664737	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:241664737G>A	uc002vzy.2	-	38	4050	c.3904C>T	c.(3904-3906)CGC>TGC	p.R1302C	KIF1A_uc010fzk.2_Missense_Mutation_p.R1403C|KIF1A_uc002vzz.1_Missense_Mutation_p.R1411C|KIF1A_uc002vzw.2_5'Flank|KIF1A_uc002vzx.2_Missense_Mutation_p.R29C	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	1302					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CGGATGGAGCGCGAGGCTGGC	0.612												
ANO7	50636	broad.mit.edu	37	2	242135234	242135234	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:242135234C>T	uc002wax.2	+	4	548	c.445C>T	c.(445-447)CGT>TGT	p.R149C	ANO7_uc002waw.2_Missense_Mutation_p.R148C	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	149	Cytoplasmic (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3						GGATAATCTTCGTGCGGCTGG	0.607												
CSNK2A1	1457	broad.mit.edu	37	20	473005	473005	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:473005G>A	uc002wdw.1	-	9	907	c.514C>T	c.(514-516)CGA>TGA	p.R172*	CSNK2A1_uc002wdx.1_Nonsense_Mutation_p.R172*|CSNK2A1_uc002wdy.1_Nonsense_Mutation_p.R36*	NM_177559	NP_808227	P68400	CSK21_HUMAN	casein kinase II alpha 1 subunit isoform a	172	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			ovary(1)	1		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TCTATTAGTCGTAGCTGAAAA	0.368												
SNPH	9751	broad.mit.edu	37	20	1286354	1286354	+	Missense_Mutation	SNP	C	C	T	rs6131323		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:1286354C>T	uc002wes.2	+	6	1377	c.1141C>T	c.(1141-1143)CGT>TGT	p.R381C	SNPH_uc002wet.2_Missense_Mutation_p.R425C	NM_014723	NP_055538	O15079	SNPH_HUMAN	syntaphilin	381					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			ovary(2)	2						GCCCATCACCCGTGGACCCAC	0.667												
FASTKD5	60493	broad.mit.edu	37	20	3128626	3128626	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:3128626C>T	uc002whz.2	-	2	1402	c.1091G>A	c.(1090-1092)CGT>CAT	p.R364H	uc002whv.1_Intron|UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	364					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity				0						GTGAGTGAAACGGAACATTTT	0.433												
HSPA12B	116835	broad.mit.edu	37	20	3719329	3719329	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:3719329C>T	uc002wjd.2	+	2	111	c.8C>T	c.(7-9)GCT>GTT	p.A3V	HSPA12B_uc010zqi.1_Missense_Mutation_p.A3V|HSPA12B_uc002wje.2_5'UTR|HSPA12B_uc010zqj.1_5'UTR	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	3							ATP binding				0						AGGATGTTGGCTGTCCCGGAG	0.532												
SLC23A2	9962	broad.mit.edu	37	20	4864313	4864313	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:4864313C>T	uc002wlg.1	-	9	1174	c.799G>A	c.(799-801)GGG>AGG	p.G267R	SLC23A2_uc010zqr.1_Intron|SLC23A2_uc002wlh.1_Missense_Mutation_p.G267R|SLC23A2_uc002wli.2_Missense_Mutation_p.G266R	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase	267	Helical; (Potential).				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2						CAGTGCTTCCCGGCTCTCTCC	0.577												
SLC23A2	9962	broad.mit.edu	37	20	4866508	4866508	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:4866508C>T	uc002wlg.1	-	7	905	c.530G>A	c.(529-531)CGA>CAA	p.R177Q	SLC23A2_uc010zqr.1_Intron|SLC23A2_uc002wlh.1_Missense_Mutation_p.R177Q|SLC23A2_uc002wli.2_Missense_Mutation_p.R176Q	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase	177	Helical; (Potential).				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2						CAGGATGGCTCGAGCAGGGGC	0.453												
RRBP1	6238	broad.mit.edu	37	20	17601380	17601380	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:17601380C>T	uc002wpv.1	-	18	2542	c.2188G>A	c.(2188-2190)GCA>ACA	p.A730T	RRBP1_uc010zrp.1_5'Flank|RRBP1_uc002wpt.1_Missense_Mutation_p.A100T|RRBP1_uc002wpu.2_Missense_Mutation_p.A504T|RRBP1_uc002wpw.1_Missense_Mutation_p.A730T|RRBP1_uc010gcl.1_Missense_Mutation_p.A504T|RRBP1_uc010gcm.1_Missense_Mutation_p.A183T	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1163	Cytoplasmic (Potential).				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						TCCTCCTCTGCGGCGCCCACC	0.647												
SLC24A3	57419	broad.mit.edu	37	20	19698188	19698188	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:19698188G>A	uc002wrl.2	+	16	1933	c.1736G>A	c.(1735-1737)AGG>AAG	p.R579K		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	579	Extracellular (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1						CTGAATAGCAGGGGGCTGATC	0.522												
RALGAPA2	57186	broad.mit.edu	37	20	20552174	20552174	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:20552174G>A	uc002wrz.2	-	23	3227	c.3084C>T	c.(3082-3084)GAC>GAT	p.D1028D	RALGAPA2_uc010gcx.2_Silent_p.D732D|RALGAPA2_uc010zsg.1_Silent_p.D476D	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1028					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						TTGGCAGAACGTCCTGGCGTC	0.483												
XRN2	22803	broad.mit.edu	37	20	21367540	21367540	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:21367540C>T	uc002wsf.1	+	29	2778	c.2683C>T	c.(2683-2685)CGG>TGG	p.R895W	XRN2_uc002wsg.1_Missense_Mutation_p.R819W|XRN2_uc010zsk.1_Missense_Mutation_p.R841W|XRN2_uc002wsh.1_Missense_Mutation_p.R33W	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	895					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			skin(1)	1						CCCATGGAACCGGATGCTGCA	0.532												
DNMT3B	1789	broad.mit.edu	37	20	31368231	31368231	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:31368231G>A	uc002wyc.2	+	2	423	c.102G>A	c.(100-102)TCG>TCA	p.S34S	DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Silent_p.S34S|DNMT3B_uc002wye.2_Silent_p.S34S|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Silent_p.S34S|DNMT3B_uc010zua.1_Silent_p.S34S|DNMT3B_uc002wyf.2_Silent_p.S46S	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	34	Interaction with DNMT1 and DNMT3A.				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						CCTCCGACTCGCCCCCAATCC	0.647												
CDK5RAP1	51654	broad.mit.edu	37	20	31962015	31962015	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:31962015G>T	uc010gek.2	-	10	1277	c.1153C>A	c.(1153-1155)CTG>ATG	p.L385M	CDK5RAP1_uc002wyy.2_Missense_Mutation_p.L281M|CDK5RAP1_uc002wyz.2_Missense_Mutation_p.L371M|CDK5RAP1_uc002wza.2_Missense_Mutation_p.L371M|CDK5RAP1_uc010gel.2_Missense_Mutation_p.L280M|CDK5RAP1_uc010gem.2_Missense_Mutation_p.L294M|CDK5RAP1_uc002wzc.1_Missense_Mutation_p.L371M|CDK5RAP1_uc002wzb.1_5'Flank	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	385					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			ovary(2)|skin(2)|lung(1)	5						ATCAGCTGCAGAACCTGATGA	0.468												
AHCY	191	broad.mit.edu	37	20	32883307	32883307	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:32883307C>T	uc002xai.2	-	2	252	c.113G>A	c.(112-114)CGG>CAG	p.R38Q	AHCY_uc002xaj.2_Missense_Mutation_p.R10Q|AHCY_uc010get.2_Missense_Mutation_p.R38Q	NM_000687	NP_000678	P23526	SAHH_HUMAN	adenosylhomocysteinase isoform 1	38					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding				0						GGCCGAGTACCGCTCCCGCAT	0.657												
AHCY	191	broad.mit.edu	37	20	32883364	32883364	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:32883364C>T	uc002xai.2	-	2	195	c.56G>A	c.(55-57)CGC>CAC	p.R19H	AHCY_uc002xaj.2_5'UTR|AHCY_uc010get.2_Missense_Mutation_p.R19H	NM_000687	NP_000678	P23526	SAHH_HUMAN	adenosylhomocysteinase isoform 1	19					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding				0						CAGGGCCTTGCGTCCCCAGGC	0.657												
MYH7B	57644	broad.mit.edu	37	20	33589114	33589114	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:33589114C>T	uc002xbi.1	+	40	5760	c.5668C>T	c.(5668-5670)CGC>TGC	p.R1890C		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	1848	Potential.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TAAGGGCGTGCGCAAGCATGA	0.657												
C20orf152	140894	broad.mit.edu	37	20	34572684	34572684	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:34572684C>T	uc002xes.1	+	6	856	c.700C>T	c.(700-702)CGG>TGG	p.R234W	C20orf152_uc002xer.1_Missense_Mutation_p.R234W|C20orf152_uc010gfp.1_RNA			Q96M20	CT152_HUMAN	SubName: Full=C20orf152 protein;	234	cNMP.										0	Breast(12;0.00631)					TGCTCAGTATCGGTTTGAATT	0.448												
CTNNBL1	56259	broad.mit.edu	37	20	36407704	36407704	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:36407704G>A	uc010zvw.1	+	11	1089	c.998G>A	c.(997-999)GGC>GAC	p.G333D	CTNNBL1_uc002xhh.2_Missense_Mutation_p.G146D|CTNNBL1_uc002xhi.2_RNA|CTNNBL1_uc002xhj.2_Missense_Mutation_p.G81D	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	beta catenin-like 1	333					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			ovary(2)	2		Myeloproliferative disorder(115;0.00878)				TTCCTGAAGGGCGAGGGTCTT	0.483												
CTNNBL1	56259	broad.mit.edu	37	20	36431375	36431375	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:36431375C>T	uc010zvw.1	+	12	1229	c.1138C>T	c.(1138-1140)CGA>TGA	p.R380*	CTNNBL1_uc002xhh.2_Nonsense_Mutation_p.R193*|CTNNBL1_uc002xhi.2_RNA|CTNNBL1_uc002xhj.2_Nonsense_Mutation_p.R128*	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	beta catenin-like 1	380					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			ovary(2)	2		Myeloproliferative disorder(115;0.00878)				TCTTGGCTTACGAACCATCTT	0.502												
SLC32A1	140679	broad.mit.edu	37	20	37353721	37353721	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:37353721G>A	uc002xjc.2	+	1	617	c.354G>A	c.(352-354)GCG>GCA	p.A118A		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	118	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	AAATCACGGCGTGGGAGGCAG	0.672												
ACTR5	79913	broad.mit.edu	37	20	37378698	37378698	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:37378698C>T	uc002xjd.2	+	2	446	c.421C>T	c.(421-423)CCA>TCA	p.P141S		NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog	141					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding				0		Myeloproliferative disorder(115;0.00878)				TGTGTGCAACCCACTGTATTC	0.423												
R3HDML	140902	broad.mit.edu	37	20	42972055	42972055	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:42972055A>G	uc002xls.1	+	3	591	c.419A>G	c.(418-420)GAG>GGG	p.E140G		NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like precursor	140						extracellular region	peptidase inhibitor activity				0		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			TCCTGGTCTGAGGAGAAGTGG	0.552												
HNF4A	3172	broad.mit.edu	37	20	43056983	43056983	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:43056983A>G	uc002xma.2	+	9	1227	c.1138A>G	c.(1138-1140)AGC>GGC	p.S380G	HNF4A_uc002xlu.2_Missense_Mutation_p.S358G|HNF4A_uc002xlv.2_Missense_Mutation_p.S358G|HNF4A_uc002xlz.2_Missense_Mutation_p.S380G|HNF4A_uc010ggq.2_Missense_Mutation_p.S373G	NM_000457	NP_000448	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4 alpha isoform b	380					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AGGGTCCCCCAGCGATGCACC	0.597												
SERINC3	10955	broad.mit.edu	37	20	43133514	43133514	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:43133514C>T	uc002xme.2	-	7	936	c.802G>A	c.(802-804)GGC>AGC	p.G268S	SERINC3_uc002xmf.1_Missense_Mutation_p.G268S|SERINC3_uc010ggs.1_Missense_Mutation_p.G261S|SERINC3_uc010zwp.1_Missense_Mutation_p.G213S	NM_198941	NP_945179	Q13530	SERC3_HUMAN	tumor differentially expressed protein 1	268	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein binding			skin(3)	3		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			TGCAAGAGGCCGGAGCGAGGC	0.493												
MMP9	4318	broad.mit.edu	37	20	44639239	44639239	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:44639239C>T	uc002xqz.2	+	3	508	c.489C>T	c.(487-489)GAC>GAT	p.D163D		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	163					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	ACAGCCGGGACGCAGACATCG	0.642												
MMP9	4318	broad.mit.edu	37	20	44644923	44644923	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:44644923G>A	uc002xqz.2	+	13	2059	c.2040G>A	c.(2038-2040)TGG>TGA	p.W680*		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	680	Hemopexin-like 4.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	GCTTCTACTGGCGCGTGAGTT	0.532												
SLC2A10	81031	broad.mit.edu	37	20	45354379	45354379	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:45354379G>A	uc002xsl.2	+	2	801	c.704G>A	c.(703-705)GGC>GAC	p.G235D		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	235	Helical; Name=7; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				ACCACAGTGGGCCTGGGGCTG	0.632												
NCOA3	8202	broad.mit.edu	37	20	46265451	46265451	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:46265451T>G	uc002xtk.2	+	12	2526	c.2321T>G	c.(2320-2322)ATT>AGT	p.I774S	NCOA3_uc010ght.1_Missense_Mutation_p.I784S|NCOA3_uc002xtl.2_Missense_Mutation_p.I774S|NCOA3_uc002xtm.2_Missense_Mutation_p.I774S|NCOA3_uc002xtn.2_Missense_Mutation_p.I774S|NCOA3_uc010zyc.1_Missense_Mutation_p.I569S	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	774					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						AGCTCCACCATTCCTAGCTCA	0.408												
MOCS3	27304	broad.mit.edu	37	20	49575756	49575756	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:49575756T>C	uc002xvy.1	+	1	394	c.377T>C	c.(376-378)GTG>GCG	p.V126A	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	126					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			skin(2)|ovary(1)	3						GCCCGCCAAGTGCTGCATGGC	0.662												
KCNG1	3755	broad.mit.edu	37	20	49620767	49620767	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:49620767G>C	uc002xwa.3	-	3	1646	c.1351C>G	c.(1351-1353)CTC>GTC	p.L451V		NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	451	Helical; Name=Segment S6; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						AAGGCCATGAGCAGGATGCCG	0.627												
KCNG1	3755	broad.mit.edu	37	20	49626736	49626736	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:49626736C>T	uc002xwa.3	-	2	435	c.140G>A	c.(139-141)CGG>CAG	p.R47Q	KCNG1_uc002xwb.2_Missense_Mutation_p.R47Q	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	47	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						ATCCTGCGGCCGCAGCCGCTG	0.711												
ZFP64	55734	broad.mit.edu	37	20	50769726	50769726	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:50769726G>A	uc002xwl.2	-	6	1354	c.1005C>T	c.(1003-1005)CGC>CGT	p.R335R	ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Silent_p.R333R|ZFP64_uc002xwn.2_Silent_p.R281R	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	335	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						ACTGGTGCACGCGGCTGTGCT	0.592												
CTCFL	140690	broad.mit.edu	37	20	56089715	56089715	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:56089715G>A	uc010gix.1	-	6	1925	c.1263C>T	c.(1261-1263)CAC>CAT	p.H421H	CTCFL_uc010giw.1_Silent_p.H421H|CTCFL_uc002xym.2_Silent_p.H421H|CTCFL_uc010giz.1_Silent_p.H9H|CTCFL_uc010giy.1_Silent_p.H91H|CTCFL_uc010gja.1_Intron|CTCFL_uc010gjb.1_Silent_p.H421H|CTCFL_uc010gjc.1_Silent_p.H421H|CTCFL_uc010gjd.1_Silent_p.H421H|CTCFL_uc010gje.2_Silent_p.H421H|CTCFL_uc010gjf.2_Silent_p.H216H|CTCFL_uc010gjg.2_Silent_p.H153H|CTCFL_uc010gjh.1_Intron|CTCFL_uc010gji.1_Silent_p.H216H|CTCFL_uc010gjj.1_Silent_p.H421H	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	421	C2H2-type 6.				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|skin(1)	4	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CATTTTCGCCGTGTTTCTGCA	0.488											OREG0026065	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZBP1	81030	broad.mit.edu	37	20	56190021	56190021	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:56190021G>A	uc002xyo.2	-	4	705	c.424C>T	c.(424-426)CGA>TGA	p.R142*	ZBP1_uc010gjm.2_Nonsense_Mutation_p.R142*|ZBP1_uc002xyp.2_Nonsense_Mutation_p.R67*|ZBP1_uc010zzn.1_Nonsense_Mutation_p.R142*	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1 isoform a	142	DRADA 2.					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			ovary(2)	2	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TACAAGTCTCGGTTCACATCT	0.547												
TUBB1	81027	broad.mit.edu	37	20	57599576	57599576	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:57599576C>T	uc002yak.2	+	4	1363	c.1094C>T	c.(1093-1095)GCC>GTC	p.A365V		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	beta tubulin 1, class VI	365					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			ovary(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	AGCATGGCCGCCACCTTCATT	0.542												
LAMA5	3911	broad.mit.edu	37	20	60911481	60911481	+	Silent	SNP	G	G	A	rs140745444	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:60911481G>A	uc002ycq.2	-	18	2305	c.2238C>T	c.(2236-2238)TGC>TGT	p.C746C		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	746	Laminin EGF-like 9.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGTGAGCCCGGCACATACAGG	0.647												
COL20A1	57642	broad.mit.edu	37	20	61959433	61959433	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:61959433C>T	uc011aau.1	+	33	3667	c.3567C>T	c.(3565-3567)GGC>GGT	p.G1189G	COL20A1_uc011aav.1_Silent_p.G1010G	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1189	Collagen-like 2.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					CCTTCCAGGGCGAGCCGCAGT	0.607												
C20orf195	79025	broad.mit.edu	37	20	62187663	62187663	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:62187663C>T	uc002yfj.2	+	2	739	c.647C>T	c.(646-648)GCG>GTG	p.A216V	C20orf195_uc002yfk.2_Missense_Mutation_p.A216V	NM_024059	NP_076964	Q9BVV2	CT195_HUMAN	hypothetical protein LOC79025	216											0	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GACCGAAAGGCGTCGGCGGCT	0.622												
RTEL1	51750	broad.mit.edu	37	20	62324527	62324527	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:62324527G>A	uc002yfu.1	+	30	3226	c.2883G>A	c.(2881-2883)AAG>AAA	p.K961K	RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Silent_p.K961K|RTEL1_uc011abd.1_Silent_p.K985K|RTEL1_uc011abe.1_Silent_p.K738K|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_Silent_p.K206K|TNFRSF6B_uc002yfy.2_5'Flank	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	961					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding				0	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCCACCATAAGCAGCAGTTTG	0.597												
ZNF512B	57473	broad.mit.edu	37	20	62598009	62598009	+	Silent	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:62598009A>G	uc002yhl.1	-	5	573	c.519T>C	c.(517-519)CCT>CCC	p.P173P		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	zinc finger protein 512B	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGATGGGCCCAGGCTTGGAGG	0.617												
OPRL1	4987	broad.mit.edu	37	20	62729761	62729761	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:62729761G>A	uc002yic.2	+	5	1124	c.722G>A	c.(721-723)CGG>CAG	p.R241Q	OPRL1_uc002yid.2_Missense_Mutation_p.R241Q|OPRL1_uc002yif.3_Missense_Mutation_p.R236Q	NM_182647	NP_872588	P41146	OPRX_HUMAN	opiate receptor-like 1	241	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					ATGATCCGGCGGCTCCGTGGA	0.627												
TPTE	7179	broad.mit.edu	37	21	10971319	10971319	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:10971319A>G	uc002yip.1	-	5	406	c.38T>C	c.(37-39)GTC>GCC	p.V13A	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.V13A|TPTE_uc002yir.1_Missense_Mutation_p.V13A|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	13					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTCAATGATGACTCCCGCCAG	0.328												
NRIP1	8204	broad.mit.edu	37	21	16340186	16340186	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:16340186C>T	uc002yjx.2	-	4	926	c.328G>A	c.(328-330)GTA>ATA	p.V110I		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	110	Repression domain 1.				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)		TCCTTCTTTACGTTTAAATTC	0.463												
CYYR1	116159	broad.mit.edu	37	21	27840845	27840845	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:27840845G>A	uc002ymd.2	-	4	762	c.440C>T	c.(439-441)CCT>CTT	p.P147L	CYYR1_uc011ack.1_RNA|CYYR1_uc002yme.2_Missense_Mutation_p.P148L	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	cysteine and tyrosine-rich 1 protein precursor	147	Cytoplasmic (Potential).|Poly-Pro.					integral to membrane					0						TCCAGGATAAGGAGGGGGTGG	0.532												
RNF160	26046	broad.mit.edu	37	21	30339484	30339484	+	Silent	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:30339484A>G	uc002ymr.2	-	10	1480	c.1467T>C	c.(1465-1467)GAT>GAC	p.D489D	RNF160_uc010gll.1_RNA	NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	443							ligase activity|zinc ion binding				0						TGAGAACTGCATCAATAAAAG	0.279												
C21orf7	56911	broad.mit.edu	37	21	30464856	30464856	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:30464856G>A	uc002yne.2	+	5	595	c.324G>A	c.(322-324)AAG>AAA	p.K108K	C21orf7_uc011acr.1_RNA|C21orf7_uc002ynd.2_RNA|C21orf7_uc010gln.2_RNA|C21orf7_uc002ynf.2_Silent_p.K108K	NM_020152	NP_064537	P57077	TAK1L_HUMAN	chromosome 21 open reading frame 7	108						cytosol|nucleus	protein binding			ovary(2)	2				Colorectal(56;0.248)		TCACTCTGAAGCCAAAGTCTA	0.473												
TIAM1	7074	broad.mit.edu	37	21	32502534	32502534	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:32502534C>T	uc002yow.1	-	26	4514	c.4042G>A	c.(4042-4044)GCA>ACA	p.A1348T	TIAM1_uc011adk.1_Missense_Mutation_p.A1348T|TIAM1_uc011adl.1_Missense_Mutation_p.A1288T	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1348	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						AGTTTACCTGCACTCGCCAAA	0.473												
TIAM1	7074	broad.mit.edu	37	21	32589954	32589954	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:32589954G>A	uc002yow.1	-	10	2529	c.2057C>T	c.(2056-2058)GCG>GTG	p.A686V	TIAM1_uc011adk.1_Missense_Mutation_p.A686V|TIAM1_uc011adl.1_Missense_Mutation_p.A686V|TIAM1_uc002yox.1_Missense_Mutation_p.A294V	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	686					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						TCGCTTGCTCGCGGATCTGGA	0.547												
SFRS15	57466	broad.mit.edu	37	21	33068925	33068925	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:33068925C>T	uc002ypd.2	-	8	1342	c.916G>A	c.(916-918)GCT>ACT	p.A306T	SFRS15_uc002ype.2_Missense_Mutation_p.A306T|SFRS15_uc010glu.2_Missense_Mutation_p.A291T|SFRS15_uc002ypf.1_5'UTR	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	306	Poly-Ala.					nucleus	nucleotide binding|RNA binding				0						GCGGGTGCAGCAGCAGCAGGC	0.527												
SYNJ1	8867	broad.mit.edu	37	21	34011320	34011320	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:34011320C>T	uc002yqh.2	-	31	3930	c.3930G>A	c.(3928-3930)ATG>ATA	p.M1310I	SYNJ1_uc011ads.1_Missense_Mutation_p.M1224I|SYNJ1_uc002yqf.2_Missense_Mutation_p.M1255I|SYNJ1_uc002yqg.2_Missense_Mutation_p.M1224I|SYNJ1_uc002yqi.2_Missense_Mutation_p.M1310I|SYNJ1_uc002yqe.3_5'UTR	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	1271	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5						CAGACTGAGGCATAGGTGCTG	0.572												
KCNJ15	3772	broad.mit.edu	37	21	39671742	39671742	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:39671742A>G	uc002ywv.2	+	4	861	c.559A>G	c.(559-561)ACC>GCC	p.T187A	KCNJ15_uc002yww.2_Missense_Mutation_p.T187A|KCNJ15_uc002ywx.2_Missense_Mutation_p.T187A	NM_002243	NP_002234	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel J15	187	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6						TGCAGTCATCACCAAGCAGAA	0.522												
ERG	2078	broad.mit.edu	37	21	39755470	39755470	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:39755470G>A	uc010gnw.2	-	12	1611	c.1316C>T	c.(1315-1317)GCG>GTG	p.A439V	ERG_uc002yxa.2_Missense_Mutation_p.A432V|ERG_uc011aek.1_Missense_Mutation_p.A340V|ERG_uc010gnv.2_Missense_Mutation_p.A316V|ERG_uc010gnx.2_Missense_Mutation_p.A415V|ERG_uc011ael.1_Missense_Mutation_p.A439V|ERG_uc002yxb.2_Missense_Mutation_p.A415V	NM_001136155	NP_001129627	P11308	ERG_HUMAN	ets-related isoform 4	439					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)	prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828		Prostate(19;3.6e-06)				AGGGTGGGGCGCCACAAAGTT	0.572												
DSCAM	1826	broad.mit.edu	37	21	41423955	41423955	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:41423955C>T	uc002yyq.1	-	30	5567	c.5115G>A	c.(5113-5115)ACG>ACA	p.T1705T	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1705	Cytoplasmic (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGTAATGGACCGTGTGAGTGA	0.537												
TRPM2	7226	broad.mit.edu	37	21	45811268	45811268	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:45811268C>T	uc002zet.1	+	12	1767	c.1554C>T	c.(1552-1554)ACC>ACT	p.T518T	TRPM2_uc002zeu.1_Silent_p.T518T|TRPM2_uc002zew.1_Silent_p.T518T|TRPM2_uc010gpt.1_Silent_p.T518T|TRPM2_uc002zex.1_Silent_p.T304T|TRPM2_uc002zey.1_Silent_p.T31T	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	518	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CCTGGGACACCTTGCTCTACC	0.557												
C21orf29	54084	broad.mit.edu	37	21	45948410	45948410	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:45948410C>T	uc002zfe.1	-	6	913	c.847G>A	c.(847-849)GCC>ACC	p.A283T	C21orf29_uc010gpv.1_Missense_Mutation_p.A215T	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29 precursor	283					cell adhesion	extracellular region	structural molecule activity				0						CAGAACTGGGCGTCTTCCACC	0.607												
C21orf70	85395	broad.mit.edu	37	21	46387053	46387053	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:46387053G>A	uc002zgl.2	+	4	475	c.457G>A	c.(457-459)GAG>AAG	p.E153K	C21orf70_uc002zgm.2_Missense_Mutation_p.E138K	NM_058190	NP_478070	Q9NSI2	CU070_HUMAN	hypothetical protein LOC85395	153											0				Colorectal(79;0.248)		TGCCCTGCCCGAGCTGCTGGG	0.701												
CECR2	27443	broad.mit.edu	37	22	18022614	18022614	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:18022614T>C	uc010gqw.1	+	15	2842	c.2716T>C	c.(2716-2718)TCA>CCA	p.S906P	CECR2_uc010gqv.1_Missense_Mutation_p.S765P|CECR2_uc002zml.2_Missense_Mutation_p.S765P	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	948					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		AGTCACTGTGTCAGCCCCCAA	0.597												
DGCR14	8220	broad.mit.edu	37	22	19130071	19130071	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:19130071C>T	uc002zou.2	-	3	417	c.380G>A	c.(379-381)CGC>CAC	p.R127H	DGCR14_uc002zot.2_Missense_Mutation_p.R48H|DGCR14_uc002zov.2_RNA	NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region protein 14	127					nervous system development	catalytic step 2 spliceosome				ovary(1)	1	Colorectal(54;0.0993)					GCCTCGGCCGCGGGGCCTGGG	0.597												
CLTCL1	8218	broad.mit.edu	37	22	19263160	19263160	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:19263160A>G	uc002zpb.2	-	2	311	c.236T>C	c.(235-237)GTG>GCG	p.V79A	CLTCL1_uc011agv.1_Missense_Mutation_p.V79A|CLTCL1_uc011agw.1_Missense_Mutation_p.V79A	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	79	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)					CAGAGCTATCACCTTAGAGGC	0.453			T	?	ALCL							
UFD1L	7353	broad.mit.edu	37	22	19442297	19442297	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:19442297C>T	uc002zpm.2	-	11	954	c.824G>A	c.(823-825)CGT>CAT	p.R275H	UFD1L_uc002zpo.2_Intron|UFD1L_uc011agy.1_Missense_Mutation_p.R275H|UFD1L_uc002zpp.2_Missense_Mutation_p.R228H	NM_005659	NP_005650	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1-like isoform A	275					skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity				0	Colorectal(54;0.0993)					GACAAGGGGACGTGAATTTCT	0.363												
HIC2	23119	broad.mit.edu	37	22	21799284	21799284	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:21799284C>T	uc002zur.3	+	3	330	c.100C>T	c.(100-102)CTG>TTG	p.L34L	HIC2_uc002zus.3_Silent_p.L34L	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	34					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GCAGCTCCTGCTGCAGCTGAA	0.642												
PPM1F	9647	broad.mit.edu	37	22	22287763	22287763	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:22287763C>A	uc002zvp.1	-	5	861	c.747G>T	c.(745-747)GAG>GAT	p.E249D	PPM1F_uc011aik.1_Missense_Mutation_p.E145D|PPM1F_uc002zvq.2_Missense_Mutation_p.E249D	NM_014634	NP_055449	P49593	PPM1F_HUMAN	protein phosphatase 1F	249					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		CAGTCCTCACCTCTCGCTTGG	0.642												
MMP11	4320	broad.mit.edu	37	22	24122599	24122599	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:24122599C>T	uc002zxx.2	+	3	414	c.392C>T	c.(391-393)GCA>GTA	p.A131V	MMP11_uc002zxy.2_RNA|MMP11_uc002zxz.2_5'Flank	NM_005940	NP_005931	P24347	MMP11_HUMAN	matrix metalloproteinase 11 preproprotein	131					collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(2)|large_intestine(1)	3		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				CAGACGATGGCAGAGGCCCTA	0.622												
SMARCB1	6598	broad.mit.edu	37	22	24135751	24135751	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:24135751G>A	uc002zyb.2	+	3	445	c.238G>A	c.(238-240)GGA>AGA	p.G80R	SMARCB1_uc002zyg.2_Missense_Mutation_p.G80R|SMARCB1_uc011ajb.1_Missense_Mutation_p.G71R|SMARCB1_uc002zya.2_Missense_Mutation_p.G80R|SMARCB1_uc002zyc.2_Missense_Mutation_p.G71R|SMARCB1_uc002zyd.2_Missense_Mutation_p.G71R|SMARCB1_uc002zye.1_Missense_Mutation_p.G43R|SMARCB1_uc002zyf.1_RNA|SMARCB1_uc010gue.1_Intron	NM_003073	NP_003064	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin	80					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)		soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				TACAGATCACGGATACACGAC	0.537			D|N|F|S		malignant rhabdoid 	malignant rhabdoid			Rhabdoid_Predisposition_syndrome|Schwannomatosis			
HSCB	150274	broad.mit.edu	37	22	29141967	29141967	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:29141967C>T	uc003aea.2	+	4	580	c.539C>T	c.(538-540)GCC>GTC	p.A180V		NM_172002	NP_741999	Q8IWL3	HSC20_HUMAN	J-type co-chaperone HSC20 precursor	180					iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)	1						AGTGAAGCTGCCATGAAAGAG	0.348												
AP1B1	162	broad.mit.edu	37	22	29752476	29752476	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:29752476G>A	uc003afj.2	-	6	839	c.655C>T	c.(655-657)CAG>TAG	p.Q219*	AP1B1_uc003afi.2_Nonsense_Mutation_p.Q219*|AP1B1_uc003afk.2_Nonsense_Mutation_p.Q219*|AP1B1_uc003afl.2_Nonsense_Mutation_p.Q219*	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	219					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						ATGAAGATCTGGCCCCACTCG	0.602												
RNF215	200312	broad.mit.edu	37	22	30776051	30776051	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:30776051C>T	uc003ahp.2	-	7	1008	c.1008G>A	c.(1006-1008)CAG>CAA	p.Q336Q	RNF215_uc011akw.1_Silent_p.Q241Q	NM_001017981	NP_001017981	Q9Y6U7	RN215_HUMAN	ring finger protein 215	336	Cytoplasmic (Potential).|RING-type; atypical.					integral to membrane	zinc ion binding			central_nervous_system(1)	1						GGGCACTAGCCTGTTTGTTGC	0.627												
GAL3ST1	9514	broad.mit.edu	37	22	30951569	30951569	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:30951569G>A	uc003aig.1	-	4	783	c.643C>T	c.(643-645)CGA>TGA	p.R215*	GAL3ST1_uc003aih.1_Nonsense_Mutation_p.R215*|GAL3ST1_uc003aii.1_Nonsense_Mutation_p.R215*|GAL3ST1_uc010gvz.1_Nonsense_Mutation_p.R215*	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	215	Lumenal (Potential).				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity				0						AGCAGGTTTCGGAGGTAGTGG	0.627												
MYH9	4627	broad.mit.edu	37	22	36684826	36684826	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:36684826G>T	uc003apg.2	-	33	4948	c.4717C>A	c.(4717-4719)CTG>ATG	p.L1573M		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1573	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						CGGCCCTGCAGGTCCCGCTCG	0.642			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated			
SSTR3	6753	broad.mit.edu	37	22	37603060	37603060	+	Silent	SNP	G	G	A	rs144127697		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:37603060G>A	uc003ara.2	-	2	845	c.783C>T	c.(781-783)GCC>GCT	p.A261A	SSTR3_uc003arb.2_Silent_p.A261A	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	261	Helical; Name=6; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			lung(1)	1						GCGCCACCACGGCCACCACCA	0.672												
ELFN2	114794	broad.mit.edu	37	22	37771425	37771425	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:37771425C>T	uc003asq.3	-	3	936	c.150G>A	c.(148-150)CCG>CCA	p.P50P		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	50	Extracellular (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					TGATGTGCTGCGGGATGGTCT	0.627												
TNRC6B	23112	broad.mit.edu	37	22	40657921	40657921	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:40657921C>T	uc011aor.1	+	4	412	c.201C>T	c.(199-201)GGC>GGT	p.G67G	TNRC6B_uc003aym.2_Silent_p.G103G|TNRC6B_uc003ayn.3_Silent_p.G67G|TNRC6B_uc003ayo.2_5'Flank	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	67					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0						TCAATGGTGGCAACAATGCCA	0.612												
ZC3H7B	23264	broad.mit.edu	37	22	41723285	41723285	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:41723285C>T	uc003azw.2	+	5	577	c.361C>T	c.(361-363)CGC>TGC	p.R121C	ZC3H7B_uc003azv.1_Missense_Mutation_p.R121C|ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	121	TPR 3.				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1						GGCGTTGTTCCGCAAGGCACG	0.637												
ACO2	50	broad.mit.edu	37	22	41919894	41919894	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:41919894G>A	uc003bac.2	+	12	1453	c.1431G>A	c.(1429-1431)ACG>ACA	p.T477T	ACO2_uc003bad.2_Silent_p.T502T	NM_001098	NP_001089	Q99798	ACON_HUMAN	aconitase 2, mitochondrial precursor	477					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(2)|ovary(1)|lung(1)	4						GGAACTTCACGGGCCGCAACG	0.597												
MEI1	150365	broad.mit.edu	37	22	42095566	42095566	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:42095566G>A	uc003baz.1	+	1	49	c.24G>A	c.(22-24)ACG>ACA	p.T8T	MEI1_uc003bay.3_Silent_p.T8T|MEI1_uc011apd.1_RNA	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	meiosis defective 1	8							binding			central_nervous_system(1)|skin(1)	2						AGGCGGCGACGGCGGGCACTC	0.697												
SCUBE1	80274	broad.mit.edu	37	22	43606145	43606145	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:43606145C>T	uc003bdt.1	-	19	2573	c.2485G>A	c.(2485-2487)GCG>ACG	p.A829T		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	829	CUB.				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				GGGGGAGGCGCGATGTGCCAG	0.607												
FBLN1	2192	broad.mit.edu	37	22	45928968	45928968	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:45928968C>T	uc003bgj.1	+	6	717	c.570C>T	c.(568-570)TGC>TGT	p.C190C	FBLN1_uc003bgg.1_Silent_p.C190C|FBLN1_uc003bgh.2_Silent_p.C190C|FBLN1_uc010gzz.2_Silent_p.C228C|FBLN1_uc003bgi.1_Silent_p.C190C	NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	190	EGF-like 1.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AGCAGCAGTGCCGAGACACGG	0.627												
CELSR1	9620	broad.mit.edu	37	22	46785200	46785200	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:46785200G>A	uc003bhw.1	-	18	6542	c.6542C>T	c.(6541-6543)GCC>GTC	p.A2181V	CELSR1_uc011arc.1_Missense_Mutation_p.A502V	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2181	Extracellular (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTGAAAGTCGGCGTCCTGCGT	0.597												
CELSR1	9620	broad.mit.edu	37	22	46930758	46930758	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:46930758C>T	uc003bhw.1	-	1	2310	c.2310G>A	c.(2308-2310)TCG>TCA	p.S770S		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	770	Extracellular (Potential).|Cadherin 5.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCGCAGTGTGCGACCGTGTGC	0.602												
GRAMD4	23151	broad.mit.edu	37	22	47054158	47054158	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:47054158C>T	uc003bhx.2	+	3	397	c.358C>T	c.(358-360)CGG>TGG	p.R120W	GRAMD4_uc010had.2_Missense_Mutation_p.R59W	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	death-inducing-protein	120	Potential.				apoptosis	integral to membrane|mitochondrial membrane				ovary(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		CGAGCGGCAGCGGCGGATGGA	0.682												
ZBED4	9889	broad.mit.edu	37	22	50279583	50279583	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:50279583G>A	uc003bix.2	+	2	2743	c.2273G>A	c.(2272-2274)CGG>CAG	p.R758Q		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	758						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TCGCCAGCCCGGCCGCGCTGT	0.602												
TUBGCP6	85378	broad.mit.edu	37	22	50661008	50661008	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:50661008C>T	uc003bkb.1	-	14	2796	c.2284G>A	c.(2284-2286)GAC>AAC	p.D762N	TUBGCP6_uc003bka.1_5'Flank|TUBGCP6_uc010har.1_Intron|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_5'UTR	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	762					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTGTAGTGGTCGACCAGTGCC	0.602												
HDAC10	83933	broad.mit.edu	37	22	50686206	50686206	+	Splice_Site	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:50686206C>A	uc003bkg.2	-	14	1711	c.1338_splice	c.e14-1	p.R446_splice	TUBGCP6_uc003bkb.1_5'Flank|TUBGCP6_uc010har.1_5'Flank|TUBGCP6_uc010has.1_5'Flank|TUBGCP6_uc010hau.1_5'Flank|HDAC10_uc003bke.2_Splice_Site_p.R172_splice|HDAC10_uc003bkf.2_Splice_Site_p.R172_splice|HDAC10_uc010hav.2_Splice_Site_p.R426_splice|HDAC10_uc003bkh.2_Splice_Site_p.R239_splice|HDAC10_uc003bki.2_Splice_Site_p.R396_splice|HDAC10_uc003bkj.2_Intron|HDAC10_uc003bkk.1_Missense_Mutation_p.G118C	NM_032019	NP_114408	Q969S8	HDA10_HUMAN	histone deacetylase 10 isoform 1						negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTCGTGTGGCCTGTGGTGGAC	0.642												
MAPK12	6300	broad.mit.edu	37	22	50693747	50693747	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:50693747C>T	uc003bkm.1	-	11	1054	c.903G>A	c.(901-903)ACG>ACA	p.T301T	MAPK12_uc003bkn.2_Silent_p.T120T|MAPK12_uc003bko.2_Silent_p.T211T|MAPK12_uc003bkl.1_Silent_p.T291T|MAPK12_uc003bkp.2_Silent_p.T86T|MAPK12_uc003bkq.2_Silent_p.T120T	NM_002969	NP_002960	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	301	Protein kinase.				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCTCGCCTGCCGTCACCCGCT	0.637												
PLXNB2	23654	broad.mit.edu	37	22	50716356	50716356	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:50716356G>A	uc003bkv.3	-	32	5080	c.4974C>T	c.(4972-4974)TTC>TTT	p.F1658F	PLXNB2_uc003bkt.1_Silent_p.F450F|PLXNB2_uc003bku.1_Silent_p.F643F	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1658	Cytoplasmic (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCAGGAAGTCGAAGAAGTACT	0.607												
PLXNB2	23654	broad.mit.edu	37	22	50719833	50719833	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:50719833G>A	uc003bkv.3	-	22	3724	c.3618C>T	c.(3616-3618)ATC>ATT	p.I1206I	PLXNB2_uc003bkt.1_5'UTR|PLXNB2_uc003bku.1_Silent_p.I191I	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1206	Helical; (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCATGGGCACGATGACCAGCG	0.677												
SBF1	6305	broad.mit.edu	37	22	50885653	50885653	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:50885653C>T	uc003blh.2	-	41	5795	c.5600G>A	c.(5599-5601)CGC>CAC	p.R1867H	SBF1_uc003ble.2_Missense_Mutation_p.R331H|SBF1_uc003blf.2_Missense_Mutation_p.R343H|SBF1_uc011arx.1_Missense_Mutation_p.R1505H	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	1841	PH.				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)		GTTGTAAACGCGACGCGTTGT	0.687												
GRM7	2917	broad.mit.edu	37	3	6903441	6903441	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:6903441C>T	uc003bqm.2	+	1	640	c.366C>T	c.(364-366)TTC>TTT	p.F122F	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.F122F|GRM7_uc003bql.2_Silent_p.F122F	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	122	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	p.F122L(1)		ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	CGCTTACTTTCGTCCAGGCGC	0.592												
CAV3	859	broad.mit.edu	37	3	8787245	8787245	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:8787245G>A	uc003bra.2	+	2	215	c.148G>A	c.(148-150)GGC>AGC	p.G50S	C3orf32_uc003bqz.2_5'Flank|CAV3_uc003brb.2_Missense_Mutation_p.G50S	NM_001234	NP_001225	P56539	CAV3_HUMAN	caveolin 3	50	Cytoplasmic (Potential).				cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization	caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity			lung(1)|breast(1)	2						AGAGCCTGTGGGCACCTACAG	0.577												
ATP2B2	491	broad.mit.edu	37	3	10382254	10382254	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:10382254C>T	uc003bvt.2	-	20	3491	c.3052G>A	c.(3052-3054)GGC>AGC	p.G1018S	ATP2B2_uc003bvv.2_Missense_Mutation_p.G973S|ATP2B2_uc003bvw.2_Missense_Mutation_p.G973S|ATP2B2_uc010hdo.2_Missense_Mutation_p.G723S	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	1018	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						TTGCGCTCGCCGTGGATCTTG	0.572												
ATP2B2	491	broad.mit.edu	37	3	10382279	10382279	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:10382279G>A	uc003bvt.2	-	20	3466	c.3027C>T	c.(3025-3027)AAC>AAT	p.N1009N	ATP2B2_uc003bvv.2_Silent_p.N964N|ATP2B2_uc003bvw.2_Silent_p.N964N|ATP2B2_uc010hdo.2_Silent_p.N714N	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	1009	Helical; (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						CGTTGATCTCGTTGAAGAGCT	0.562												
SLC6A6	6533	broad.mit.edu	37	3	14523278	14523278	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:14523278C>A	uc010heg.2	+	21	1942	c.1651C>A	c.(1651-1653)CTT>ATT	p.L551I	SLC6A6_uc003byq.2_Missense_Mutation_p.L551I|SLC6A6_uc003byr.2_RNA	NM_001134367	NP_001127839	P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter	551	Helical; Name=12; (Potential).				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			ovary(1)	1						GAGCCTGGCCCTTTCCTCCAT	0.592												
ZFYVE20	64145	broad.mit.edu	37	3	15123964	15123964	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:15123964G>A	uc003bzm.1	-	9	1364	c.750C>T	c.(748-750)CGC>CGT	p.R250R	ZFYVE20_uc010hek.1_Silent_p.R250R|ZFYVE20_uc011avn.1_Intron	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	250	FYVE-type.|Necessary for the correct targeting to endosomes.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2						GTGTACAGCAGCGGATCCGGT	0.577												
ZFYVE20	64145	broad.mit.edu	37	3	15137584	15137584	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:15137584A>C	uc003bzm.1	-	4	658	c.44T>G	c.(43-45)CTC>CGC	p.L15R	ZFYVE20_uc010hek.1_Missense_Mutation_p.L15R|ZFYVE20_uc011avn.1_Missense_Mutation_p.L15R	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	15	C2H2-type.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2						CAGAGGGCAGAGGAAGCCCTC	0.537												
OXNAD1	92106	broad.mit.edu	37	3	16312535	16312535	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:16312535C>T	uc003caw.2	+	3	533	c.76C>T	c.(76-78)CTG>TTG	p.L26L	OXNAD1_uc010her.1_RNA|OXNAD1_uc003cax.2_Silent_p.L26L|OXNAD1_uc011awb.1_Silent_p.L44L	NM_138381	NP_612390	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	26							oxidoreductase activity			skin(1)	1						GGCTGCGTCACTGAGATTGAC	0.488												
NEK10	152110	broad.mit.edu	37	3	27161345	27161345	+	Silent	SNP	A	A	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:27161345A>T	uc010hfk.2	-	14	1432	c.1203T>A	c.(1201-1203)TCT>TCA	p.S401S	NEK10_uc010hfj.2_Silent_p.S344S			Q6ZWH5	NEK10_HUMAN	RecName: Full=Serine/threonine-protein kinase Nek10;          EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10;	1089							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						TCGGTTCTGGAGATCCCTGAG	0.423												
TRIM71	131405	broad.mit.edu	37	3	32860341	32860341	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:32860341G>A	uc003cff.2	+	1	832	c.769G>A	c.(769-771)GGG>AGG	p.G257R		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	257					multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						GCTCGGGCTCGGGCCGCCCTT	0.731												
TRIM71	131405	broad.mit.edu	37	3	32932739	32932739	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:32932739G>A	uc003cff.2	+	4	2106	c.2043G>A	c.(2041-2043)ACG>ACA	p.T681T		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	681	NHL 2.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						AGATCTTCACGTTCGAGGGCC	0.582												
GLB1	2720	broad.mit.edu	37	3	33114135	33114135	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:33114135C>T	uc003cfi.1	-	2	263	c.146G>A	c.(145-147)CGC>CAC	p.R49H	GLB1_uc003cfh.1_Missense_Mutation_p.R19H|GLB1_uc003cfj.1_Missense_Mutation_p.R49H|GLB1_uc011axk.1_Missense_Mutation_p.R97H	NM_000404	NP_000395	P16278	BGAL_HUMAN	galactosidase, beta 1 isoform a preproprotein	49			R -> H (in GM1G3).|R -> C (in GM1G1).		carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			large_intestine(1)	1		Melanoma(143;0.104)				TGAGATGTAGCGAAATGGCTG	0.537												
STAC	6769	broad.mit.edu	37	3	36485095	36485095	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:36485095G>T	uc003cgh.1	+	2	390	c.351G>T	c.(349-351)AAG>AAT	p.K117N	STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Missense_Mutation_p.K117N	NM_003149	NP_003140	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	117	Phorbol-ester/DAG-type.				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			skin(2)|ovary(1)|pancreas(1)	4						TCTTCAAGAAGCCCACTTTCT	0.577												
ITGA9	3680	broad.mit.edu	37	3	37560809	37560809	+	Silent	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:37560809T>C	uc003chd.2	+	11	1253	c.1200T>C	c.(1198-1200)CAT>CAC	p.H400H	ITGA9_uc003chc.2_Silent_p.H400H	NM_002207	NP_002198	Q13797	ITA9_HUMAN	integrin, alpha 9 precursor	400	Extracellular (Potential).|FG-GAP 6.				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|pancreas(1)|lung(1)|skin(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		ATATCTATCATGGTGATGCCG	0.393												
VILL	50853	broad.mit.edu	37	3	38035202	38035202	+	Silent	SNP	C	C	T	rs2364778		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:38035202C>T	uc003chj.2	+	2	325	c.39C>T	c.(37-39)GGC>GGT	p.G13G	VILL_uc003chk.1_Silent_p.G13G|VILL_uc003chl.2_Silent_p.G13G|VILL_uc010hgu.2_5'Flank	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	13					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)		TGCAGGGAGGCCTCCACATAT	0.577												
TRAK1	22906	broad.mit.edu	37	3	42244237	42244237	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:42244237G>A	uc003cky.2	+	13	1953	c.1737G>A	c.(1735-1737)CCG>CCA	p.P579P	TRAK1_uc011azh.1_Silent_p.P579P|TRAK1_uc011azi.1_Silent_p.P579P|TRAK1_uc003ckz.3_Silent_p.P505P|TRAK1_uc011azj.1_Silent_p.P505P|TRAK1_uc003cla.2_Silent_p.P521P	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	579					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						TCGTGAAGCCGCTGGAAGGTG	0.657												
NKTR	4820	broad.mit.edu	37	3	42684075	42684075	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:42684075T>C	uc003clo.2	+	14	4276	c.4129T>C	c.(4129-4131)TAC>CAC	p.Y1377H	NKTR_uc003clp.2_Missense_Mutation_p.Y1124H|NKTR_uc011azp.1_Missense_Mutation_p.Y176H|NKTR_uc003cls.2_Missense_Mutation_p.Y1077H	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1377					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CTACCGGAGTTACAAAAGTCA	0.483												
CCDC13	152206	broad.mit.edu	37	3	42798652	42798652	+	Silent	SNP	G	G	A	rs151306549		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:42798652G>A	uc003cly.3	-	3	360	c.276C>T	c.(274-276)GAC>GAT	p.D92D	CCDC13_uc003clz.2_Silent_p.D92D|CCDC13_uc011azq.1_Silent_p.D92D	NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	92	Potential.									ovary(1)	1						GCCCGTTCTCGTCCACCGTTT	0.458												
SNRK	54861	broad.mit.edu	37	3	43390026	43390026	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:43390026G>A	uc003cms.3	+	7	2607	c.2275G>A	c.(2275-2277)GCC>ACC	p.A759T	SNRK_uc003cmt.3_Missense_Mutation_p.A759T|SNRK_uc010hik.2_Missense_Mutation_p.A759T|SNRK_uc011azr.1_Missense_Mutation_p.A553T	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	SNF related kinase	759					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)		ATCCAGCCCAGCCAGCTGTTG	0.562												
TGM4	7047	broad.mit.edu	37	3	44948665	44948665	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:44948665A>G	uc003coc.3	+	10	1373	c.1300A>G	c.(1300-1302)ATC>GTC	p.I434V		NM_003241	NP_003232	P49221	TGM4_HUMAN	transglutaminase 4 (prostate)	434					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GCGGAGAGATATCACCTATGA	0.502												
LARS2	23395	broad.mit.edu	37	3	45436077	45436077	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:45436077G>A	uc003cop.1	+	3	317	c.132G>A	c.(130-132)ACG>ACA	p.T44T	LARS2_uc010hit.1_Silent_p.T44T	NM_015340	NP_056155	Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	44					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	ACAGTGCCACGGGAAAGTGGA	0.443												
NBEAL2	23218	broad.mit.edu	37	3	47033984	47033984	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:47033984C>T	uc003cqp.2	+	10	1231	c.1052C>T	c.(1051-1053)GCG>GTG	p.A351V	NBEAL2_uc003cqq.1_Intron|NBEAL2_uc010hjm.1_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	351							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CAGTCCCGGGCGCCCCCCGAG	0.637												
NBEAL2	23218	broad.mit.edu	37	3	47043424	47043424	+	Silent	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:47043424C>A	uc003cqp.2	+	31	4976	c.4797C>A	c.(4795-4797)GCC>GCA	p.A1599A	NBEAL2_uc010hjm.1_Silent_p.A976A|NBEAL2_uc010hjn.1_5'UTR	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1599							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ATGCCCAGGCCTACGTGAGAT	0.652												
PTPN23	25930	broad.mit.edu	37	3	47450550	47450550	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:47450550G>A	uc003crf.1	+	16	1711	c.1615G>A	c.(1615-1617)GCC>ACC	p.A539T	PTPN23_uc011baw.1_Missense_Mutation_p.A504T|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.A409T	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	539					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGTCCGGGCTGCCCTGCCCAC	0.667												
PTPN23	25930	broad.mit.edu	37	3	47450718	47450718	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:47450718C>T	uc003crf.1	+	17	1804	c.1708C>T	c.(1708-1710)CGC>TGC	p.R570C	PTPN23_uc011baw.1_Missense_Mutation_p.R535C|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.R440C	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	570	Potential.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCGGGACCAGCGCGTGTCCCT	0.587												
CELSR3	1951	broad.mit.edu	37	3	48691723	48691723	+	Silent	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:48691723T>C	uc003cul.2	-	7	5432	c.5151A>G	c.(5149-5151)GCA>GCG	p.A1717A	CELSR3_uc003cuf.1_Silent_p.A1787A|CELSR3_uc010hkg.2_5'Flank	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1717	Extracellular (Potential).|Laminin G-like 1.				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)		CAGGCCTACCTGCCATGGTGC	0.567												
LAMB2	3913	broad.mit.edu	37	3	49168865	49168865	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:49168865C>T	uc003cwe.2	-	6	958	c.659G>A	c.(658-660)CGT>CAT	p.R220H	LAMB2_uc003cwf.1_Missense_Mutation_p.R220H	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	220	Laminin N-terminal.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTCCAGCACACGATAGATGAC	0.602												
C3orf62	375341	broad.mit.edu	37	3	49308822	49308822	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:49308822C>T	uc003cwn.2	-	3	798	c.595G>A	c.(595-597)GAA>AAA	p.E199K	C3orf62_uc003cwm.2_Missense_Mutation_p.E48K|hsa-mir-4271|MI0015879_5'Flank	NM_198562	NP_940964	Q6ZUJ4	CC062_HUMAN	hypothetical protein LOC375341	199											0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGGTTCAATTCGTTTTCAAAT	0.428												
AMT	275	broad.mit.edu	37	3	49457752	49457752	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:49457752G>A	uc003cww.2	-	4	492	c.363C>T	c.(361-363)AAC>AAT	p.N121N	AMT_uc011bcn.1_Intron|AMT_uc003cwx.2_Silent_p.N121N|AMT_uc011bco.1_Intron|AMT_uc003cwy.2_Silent_p.N73N|AMT_uc011bcp.1_Silent_p.N24N|AMT_uc011bcq.1_Silent_p.N65N	NM_000481	NP_000472	P48728	GCST_HUMAN	aminomethyltransferase isoform 1 precursor	121					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)	CTCCAGCCTCGTTGGTAAACA	0.552												
IP6K1	9807	broad.mit.edu	37	3	49765665	49765665	+	Silent	SNP	G	G	A	rs34964130		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:49765665G>A	uc003cxm.1	-	5	978	c.663C>T	c.(661-663)TGC>TGT	p.C221C	IP6K1_uc003cxn.1_Silent_p.C56C|IP6K1_uc011bcv.1_Silent_p.C56C|IP6K1_uc003cxo.2_Silent_p.C221C	NM_153273	NP_695005	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1 isoform 1	221	Substrate binding (By similarity).				phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0						GGTCCAACACGCAGGGGTACT	0.602												
SEMA3F	6405	broad.mit.edu	37	3	50212595	50212595	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:50212595C>T	uc003cyj.2	+	6	721	c.523C>T	c.(523-525)CGC>TGC	p.R175C	SEMA3F_uc003cyk.2_Intron	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	175	Sema.			Missing (in Ref. 2).	axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		TGGTGCCCTCCGCCCGATGCC	0.677												
SEMA3F	6405	broad.mit.edu	37	3	50219760	50219760	+	Silent	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:50219760T>C	uc003cyj.2	+	8	885	c.687T>C	c.(685-687)ACT>ACC	p.T229T	SEMA3F_uc003cyk.2_Silent_p.T198T	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	229	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		TTATGGGCACTGATGCAGCCA	0.582												
C3orf45	132228	broad.mit.edu	37	3	50324596	50324596	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:50324596G>A	uc003cyz.2	+	4	485	c.458G>A	c.(457-459)CGG>CAG	p.R153Q		NM_153215	NP_694947	Q8N112	CC045_HUMAN	hypothetical protein LOC132228	153						integral to membrane				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AGCCAGCTTCGGAGGCTCAAC	0.602												
HYAL3	8372	broad.mit.edu	37	3	50330806	50330806	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:50330806C>T	uc003czd.1	-	4	1398	c.1125G>A	c.(1123-1125)ATG>ATA	p.M375I	HYAL3_uc003czc.1_Missense_Mutation_p.M345I|HYAL3_uc003cze.1_Missense_Mutation_p.M126I|HYAL3_uc003czf.1_Missense_Mutation_p.M96I|HYAL3_uc003czg.1_Missense_Mutation_p.M345I|IFRD2_uc011bdp.1_5'Flank|IFRD2_uc003czb.2_5'Flank	NM_003549	NP_003540	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3 precursor	375	EGF-like.				carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GAAAGGCTTCCATCTGTCCTG	0.637												
RAD54L2	23132	broad.mit.edu	37	3	51664313	51664313	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:51664313C>T	uc011bdt.1	+	5	632	c.507C>T	c.(505-507)GAC>GAT	p.D169D	RAD54L2_uc003dbh.2_Translation_Start_Site|RAD54L2_uc011bdu.1_Intron|RAD54L2_uc003dbj.2_Translation_Start_Site	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	169						nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GGGCAAGTGACGGTCCCCAAC	0.468												
TWF2	11344	broad.mit.edu	37	3	52263163	52263163	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:52263163G>T	uc003ddd.2	-	9	1088	c.937C>A	c.(937-939)CAC>AAC	p.H313N	TLR9_uc003dda.1_5'Flank|TLR9_uc003ddb.2_Intron|TLR9_uc003ddc.1_Intron|TWF2_uc010hmc.2_3'UTR	NM_007284	NP_009215	Q6IBS0	TWF2_HUMAN	twinfilin-like protein	313	ADF-H 2.					cytoskeleton|perinuclear region of cytoplasm	actin binding|ATP binding			stomach(1)|ovary(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGCTTGGGGTGCACCTCGTCG	0.642												
SEMA3G	56920	broad.mit.edu	37	3	52469715	52469715	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:52469715C>T	uc003dea.1	-	16	2253	c.2253G>A	c.(2251-2253)AGG>AGA	p.R751R		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	semaphorin sem2 precursor	751					multicellular organismal development	extracellular region|membrane	receptor activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		AGCTCTTGCCCCTGGCCTGCT	0.672												
SEMA3G	56920	broad.mit.edu	37	3	52475046	52475046	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:52475046G>A	uc003dea.1	-	8	832	c.832C>T	c.(832-834)CGG>TGG	p.R278W		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	semaphorin sem2 precursor	278	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		ACCAGCACCCGCTGGCCCCCA	0.627												
CACNA1D	776	broad.mit.edu	37	3	53787603	53787603	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:53787603A>G	uc003dgv.3	+	29	3843	c.3680A>G	c.(3679-3681)TAC>TGC	p.Y1227C	CACNA1D_uc003dgu.3_Missense_Mutation_p.Y1247C|CACNA1D_uc003dgy.3_Missense_Mutation_p.Y1227C|CACNA1D_uc003dgw.3_Missense_Mutation_p.Y894C|CACNA1D_uc003dgx.1_Missense_Mutation_p.Y375C	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1227	IV.|Extracellular (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CCATAGCACTACGAGCAGTCC	0.527												
ACTR8	93973	broad.mit.edu	37	3	53913991	53913991	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:53913991C>T	uc003dhd.2	-	2	328	c.269G>A	c.(268-270)AGT>AAT	p.S90N	ACTR8_uc003dhb.2_5'Flank|ACTR8_uc003dhc.2_5'UTR	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	actin-related protein 8	90					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TAGGAGCCAACTGTCCTTGTA	0.493												
CACNA2D3	55799	broad.mit.edu	37	3	54922021	54922021	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:54922021G>A	uc003dhf.2	+	24	2140	c.2092G>A	c.(2092-2094)GCG>ACG	p.A698T	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.A604T|CACNA2D3_uc003dhh.1_RNA|uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	698	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CCTTTTTGACGCGGTGGTGAG	0.522												
C3orf63	23272	broad.mit.edu	37	3	56657581	56657581	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:56657581G>A	uc003did.3	-	23	4415	c.4314C>T	c.(4312-4314)AAC>AAT	p.N1438N	C3orf63_uc003dib.3_Silent_p.N557N|C3orf63_uc003dic.3_Silent_p.N1062N|C3orf63_uc003die.3_3'UTR	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	1499										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		CCTTTTCATCGTTTTCTAAAA	0.313												
APPL1	26060	broad.mit.edu	37	3	57283436	57283436	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:57283436G>A	uc003dio.2	+	11	1059	c.912G>A	c.(910-912)ACG>ACA	p.T304T	APPL1_uc010hnb.2_Silent_p.T304T|APPL1_uc011bey.1_Silent_p.T287T	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH	304	Required for RAB5A binding.|PH.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TTTACTTCACGCAGGGTGGAA	0.458												
FLNB	2317	broad.mit.edu	37	3	58097960	58097960	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:58097960C>T	uc003djj.2	+	18	2825	c.2660C>T	c.(2659-2661)CCT>CTT	p.P887L	FLNB_uc010hne.2_Missense_Mutation_p.P887L|FLNB_uc003djk.2_Missense_Mutation_p.P887L|FLNB_uc010hnf.2_Missense_Mutation_p.P887L|FLNB_uc003djl.2_Missense_Mutation_p.P718L|FLNB_uc003djm.2_Missense_Mutation_p.P718L	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	887	Filamin 7.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TTCAACAGCCCTCTTCCTGGC	0.498												
PXK	54899	broad.mit.edu	37	3	58382815	58382815	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:58382815C>T	uc003djz.1	+	10	971	c.872C>T	c.(871-873)GCC>GTC	p.A291V	PXK_uc003djx.1_Missense_Mutation_p.A291V|PXK_uc003djy.1_Missense_Mutation_p.A274V|PXK_uc003dka.1_Missense_Mutation_p.A291V|PXK_uc003dkb.1_Missense_Mutation_p.A208V|PXK_uc003dkc.1_Missense_Mutation_p.A274V|PXK_uc011bfe.1_Missense_Mutation_p.A258V|PXK_uc010hnj.1_Missense_Mutation_p.A258V|PXK_uc003dkd.1_Missense_Mutation_p.A154V|PXK_uc010hnk.1_Missense_Mutation_p.A65V	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	291	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		CATCTTCACGCCTCCAATGTG	0.438												
PTPRG	5793	broad.mit.edu	37	3	62189010	62189010	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:62189010C>T	uc003dlb.2	+	12	2260	c.1541C>T	c.(1540-1542)ACG>ATG	p.T514M	PTPRG_uc003dlc.2_Missense_Mutation_p.T514M	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	514	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GTCACCAGCACGCTGCTCGCC	0.667												
CADPS	8618	broad.mit.edu	37	3	62535607	62535607	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:62535607G>T	uc003dll.2	-	11	2297	c.1937C>A	c.(1936-1938)CCT>CAT	p.P646H	CADPS_uc003dlk.1_Missense_Mutation_p.P150H|CADPS_uc003dlm.2_Missense_Mutation_p.P646H|CADPS_uc003dln.2_Missense_Mutation_p.P646H	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	646					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ATCCAGCTGAGGTACATTTCC	0.473												
PRICKLE2	166336	broad.mit.edu	37	3	64084973	64084973	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:64084973G>A	uc003dmf.2	-	8	2875	c.2289C>T	c.(2287-2289)GAC>GAT	p.D763D		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	763						cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GTCCCCAGCGGTCCCCAAAGG	0.602												
MITF	4286	broad.mit.edu	37	3	69987151	69987151	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:69987151C>T	uc003dnz.2	+	3	649	c.533C>T	c.(532-534)CCC>CTC	p.P178L	MITF_uc011bgb.1_Missense_Mutation_p.P126L|MITF_uc003doa.2_Missense_Mutation_p.P177L|MITF_uc003dob.2_Missense_Mutation_p.P162L|MITF_uc003dod.2_Missense_Mutation_p.P153L|MITF_uc003doe.2_Missense_Mutation_p.P71L|MITF_uc003dof.2_Missense_Mutation_p.P71L	NM_198159	NP_937802	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	178					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			ovary(2)	2		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		AGCAGCGCACCCAACAGCCCC	0.493			A		melanoma 		Waardenburg syndrome type 2|Tietz syndrome					
ROBO2	6092	broad.mit.edu	37	3	77617524	77617524	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:77617524T>C	uc003dpy.3	+	13	2553	c.1910T>C	c.(1909-1911)GTC>GCC	p.V637A	ROBO2_uc003dpz.2_Missense_Mutation_p.V641A|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.V641A	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	637	Fibronectin type-III 2.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CTAGGAGATGTCCTTGTCCGT	0.458												
ROBO1	6091	broad.mit.edu	37	3	78734947	78734947	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:78734947A>C	uc003dqe.2	-	10	1499	c.1291T>G	c.(1291-1293)TTA>GTA	p.L431V	ROBO1_uc003dqb.2_Missense_Mutation_p.L392V|ROBO1_uc003dqc.2_Missense_Mutation_p.L395V|ROBO1_uc003dqd.2_Missense_Mutation_p.L395V|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc003dqf.1_Missense_Mutation_p.L110V	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	431	Extracellular (Potential).|Ig-like C2-type 4.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GCAACATTTAAAGTCTGGCAG	0.398												
SIDT1	54847	broad.mit.edu	37	3	113331030	113331030	+	Missense_Mutation	SNP	G	G	A	rs148100303		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:113331030G>A	uc003eak.2	+	19	2606	c.1955G>A	c.(1954-1956)CGT>CAT	p.R652H	SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.R652H|SIDT1_uc011big.1_Missense_Mutation_p.R405H|SIDT1_uc011bih.1_RNA|SIDT1_uc011bii.1_Missense_Mutation_p.R105H	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor	652	Cytoplasmic (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						TATATGGGTCGTTTCAAGATA	0.408												
IGSF11	152404	broad.mit.edu	37	3	118621386	118621386	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:118621386C>T	uc003ebw.2	-	7	1524	c.1277G>A	c.(1276-1278)CGG>CAG	p.R426Q	IGSF11_uc011biv.1_Missense_Mutation_p.R398Q|IGSF11_uc003ebx.2_Missense_Mutation_p.R402Q|IGSF11_uc003eby.2_Missense_Mutation_p.R425Q|IGSF11_uc003ebz.2_Missense_Mutation_p.R401Q|IGSF11_uc010hqs.2_Missense_Mutation_p.R425Q	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11 isoform b	426	Cytoplasmic (Potential).				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0						GGACCCGGCCCGACTCTGGGC	0.542												
POLQ	10721	broad.mit.edu	37	3	121260276	121260276	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:121260276G>A	uc003eee.3	-	3	523	c.394C>T	c.(394-396)CGG>TGG	p.R132W		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	132	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		TCCAAAACCCGCTTCAAAATA	0.348								DNA_polymerases_(catalytic_subunits)				
KALRN	8997	broad.mit.edu	37	3	124393214	124393214	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:124393214G>A	uc003ehg.2	+	49	7073	c.6946G>A	c.(6946-6948)GAC>AAC	p.D2316N	KALRN_uc003ehi.2_Missense_Mutation_p.D656N|KALRN_uc003ehk.2_Missense_Mutation_p.D619N|KALRN_uc011bjz.1_Missense_Mutation_p.D407N	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2315					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						CCAGCAGAACGACCTGGGAGG	0.537												
ITGB5	3693	broad.mit.edu	37	3	124515302	124515302	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:124515302C>A	uc003eho.2	-	10	1923	c.1626G>T	c.(1624-1626)AAG>AAT	p.K542N	ITGB5_uc010hrx.2_RNA	NM_002213	NP_002204	P18084	ITB5_HUMAN	integrin, beta 5 precursor	542	Extracellular (Potential).|II.|Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			skin(2)	2				GBM - Glioblastoma multiforme(114;0.163)		GCCCATAGATCTTGCCAAACT	0.587												
HEG1	57493	broad.mit.edu	37	3	124716537	124716537	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:124716537G>A	uc003ehs.3	-	12	3716	c.3648C>T	c.(3646-3648)TGC>TGT	p.C1216C	HEG1_uc003ehr.3_Silent_p.C70C|HEG1_uc011bke.1_Silent_p.C1316C	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	1216	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2						GGCTACCTCGGCAGGAGTGGT	0.552												
UROC1	131669	broad.mit.edu	37	3	126207085	126207085	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:126207085G>A	uc003eiz.1	-	18	1778	c.1746C>T	c.(1744-1746)CGC>CGT	p.R582R	UROC1_uc010hsi.1_Silent_p.R642R	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1	582					histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)		AGGTGGCTCCGCGACAGGCAT	0.607												
TPRA1	131601	broad.mit.edu	37	3	127292484	127292484	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:127292484C>T	uc003ejl.2	-	10	1293	c.1002G>A	c.(1000-1002)TCG>TCA	p.S334S	TPRA1_uc003ejm.2_RNA|TPRA1_uc003ejo.2_Silent_p.S334S|TPRA1_uc010hsk.2_Missense_Mutation_p.E280K|TPRA1_uc003ejn.2_Silent_p.S334S	NM_016372	NP_057456	Q86W33	TPRA1_HUMAN	G protein-coupled receptor 175 isoform 1	334					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity				0						ACTGCGTGCTCGAGTAGCTGG	0.667												
MCM2	4171	broad.mit.edu	37	3	127323819	127323819	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:127323819G>A	uc003ejp.2	+	4	550	c.493G>A	c.(493-495)GAG>AAG	p.E165K	MCM2_uc011bkm.1_Missense_Mutation_p.E35K|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.E49K	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	165	Interaction with MYST2 (By similarity).				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4						CGAGGAGGACGAGGAGATGAT	0.677												
MCM2	4171	broad.mit.edu	37	3	127327353	127327353	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:127327353C>T	uc003ejp.2	+	7	1287	c.1230C>T	c.(1228-1230)GAC>GAT	p.D410D	MCM2_uc011bkm.1_Silent_p.D280D|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Silent_p.D294D	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	410					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4						AGCCAGGAGACGAGATAGTAA	0.637												
KIAA1257	57501	broad.mit.edu	37	3	128690075	128690075	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:128690075C>T	uc003elj.3	-	8	1419	c.1223G>A	c.(1222-1224)CGG>CAG	p.R408Q	KIAA1257_uc003elg.1_Intron|KIAA1257_uc003elh.1_Intron|KIAA1257_uc003eli.3_Missense_Mutation_p.R296Q	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	hypothetical protein LOC57501	408											0						CGCTTATGGCCGTTCTGGCCA	0.433											OREG0015784	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DZIP1L	199221	broad.mit.edu	37	3	137787001	137787001	+	Silent	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:137787001G>T	uc003erq.2	-	13	2187	c.1824C>A	c.(1822-1824)CCC>CCA	p.P608P		NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	608						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2						ACCTCATCCCGGGCCCCGAGG	0.682												
CLSTN2	64084	broad.mit.edu	37	3	140178491	140178491	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:140178491G>A	uc003etn.2	+	7	1292	c.1102G>A	c.(1102-1104)GAT>AAT	p.D368N	CLSTN2_uc003etm.2_Missense_Mutation_p.D368N	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	368	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						CAAAGTCCCCGATGGGATTGT	0.577										HNSCC(16;0.037)		
RASA2	5922	broad.mit.edu	37	3	141295906	141295906	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:141295906C>T	uc003etz.1	+	15	1548	c.1548C>T	c.(1546-1548)GCC>GCT	p.A516A	RASA2_uc010huq.1_Silent_p.A516A|RASA2_uc003eua.1_Silent_p.A516A|RASA2_uc011bnc.1_Silent_p.A108A	NM_006506	NP_006497	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	516	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			ovary(2)|lung(2)|breast(1)|skin(1)	6						TTGCTGTAGCCGTAGTATCAC	0.348												
ZIC1	7545	broad.mit.edu	37	3	147130352	147130352	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:147130352G>A	uc003ewe.2	+	2	1749	c.1030G>A	c.(1030-1032)GCT>ACT	p.A344T		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	344	C2H2-type 4.				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						CCGGCGCTTCGCTAACAGCAG	0.547												
HLTF	6596	broad.mit.edu	37	3	148763957	148763957	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:148763957C>T	uc003ewq.1	-	18	2200	c.1982G>A	c.(1981-1983)CGT>CAT	p.R661H	HLTF_uc003ewr.1_Missense_Mutation_p.R661H|HLTF_uc003ews.1_Missense_Mutation_p.R660H|HLTF_uc010hve.1_Missense_Mutation_p.R660H	NM_139048	NP_620636	Q14527	HLTF_HUMAN	helicase-like transcription factor	661					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AAATACTTTACGTTCTGGTAA	0.338												
SUCNR1	56670	broad.mit.edu	37	3	151598716	151598716	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:151598716C>T	uc003ezf.1	+	3	484	c.385C>T	c.(385-387)CGA>TGA	p.R129*		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	129	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GTATCCTTTCCGAGAACACCT	0.373												
TIPARP	25976	broad.mit.edu	37	3	156396200	156396200	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:156396200C>T	uc003fav.2	+	2	962	c.714C>T	c.(712-714)AAC>AAT	p.N238N	LOC100287227_uc011boq.1_5'Flank|TIPARP_uc003faw.2_Silent_p.N238N	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	238	C3H1-type.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|breast(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACCAAGAGAACGGAATTGAAA	0.453												
IFT80	57560	broad.mit.edu	37	3	160083873	160083873	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:160083873C>T	uc011boy.1	-	6	940	c.507G>A	c.(505-507)CAG>CAA	p.Q169Q	IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Silent_p.Q32Q|IFT80_uc003fdd.1_Intron|IFT80_uc003fde.1_Silent_p.Q32Q	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	WD repeat domain 56	169	WD 3.					cilium axoneme|microtubule basal body				ovary(1)	1			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TAATGATTAGCTGCTTGCCTG	0.398												
SMC4	10051	broad.mit.edu	37	3	160132162	160132162	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:160132162A>G	uc003fdh.2	+	9	1242	c.1129A>G	c.(1129-1131)AAT>GAT	p.N377D	IFT80_uc003fda.2_Intron|SMC4_uc003fdf.1_RNA|SMC4_uc003fdg.1_Missense_Mutation_p.N377D|SMC4_uc010hwc.1_Missense_Mutation_p.N141D|SMC4_uc003fdi.2_Missense_Mutation_p.N352D|SMC4_uc003fdj.2_Missense_Mutation_p.N377D|SMC4_uc010hwd.2_Missense_Mutation_p.N377D|SMC4_uc003fdl.2_Missense_Mutation_p.N80D	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	377	Potential.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TAGGAAACTGAATAAAATTAC	0.294												
MECOM	2122	broad.mit.edu	37	3	168838893	168838893	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:168838893C>T	uc003ffi.3	-	6	788	c.519G>A	c.(517-519)TCG>TCA	p.S173S	MECOM_uc010hwk.1_Silent_p.S196S|MECOM_uc003ffj.3_Silent_p.S238S|MECOM_uc011bpi.1_Silent_p.S174S|MECOM_uc003ffn.3_Silent_p.S173S|MECOM_uc003ffk.2_Silent_p.S173S|MECOM_uc003ffl.2_Silent_p.S333S|MECOM_uc011bpj.1_Silent_p.S361S|MECOM_uc011bpk.1_Silent_p.S163S|MECOM_uc010hwn.2_Silent_p.S361S	NM_005241	NP_005232	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform b	173	C2H2-type 5.|Interaction with MAPK9, SMAD3 and probably SUV39H1.				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						GTTTGAGGCCCGACGAAGTGG	0.552												
PHC3	80012	broad.mit.edu	37	3	169863295	169863295	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:169863295G>A	uc010hws.1	-	6	616	c.552C>T	c.(550-552)CCC>CCT	p.P184P	PHC3_uc003fgl.2_Silent_p.P196P|PHC3_uc011bpq.1_Silent_p.P143P|PHC3_uc011bpr.1_Intron|PHC3_uc003fgm.2_Silent_p.P196P	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	polyhomeotic like 3	184	Ser-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			CAGTGGTAGCGGGTGTGAAAA	0.463												
FNDC3B	64778	broad.mit.edu	37	3	172058968	172058968	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:172058968G>T	uc003fhy.2	+	17	2090	c.1918G>T	c.(1918-1920)GGC>TGC	p.G640C	FNDC3B_uc003fhz.3_Missense_Mutation_p.G640C	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	640	Fibronectin type-III 4.					endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CTTGAAACCAGGCACTTTGTA	0.473												
ZMAT3	64393	broad.mit.edu	37	3	178748762	178748762	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:178748762C>T	uc003fjg.2	-	3	555	c.296G>A	c.(295-297)CGA>CAA	p.R99Q	ZMAT3_uc010hxa.2_Missense_Mutation_p.R99Q|ZMAT3_uc003fji.2_Missense_Mutation_p.R99Q	NM_022470	NP_071915	Q9HA38	ZMAT3_HUMAN	p53 target zinc finger protein isoform 1	99	Matrin-type 1.				apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			ovary(2)	2	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			ATAGTAATTTCGGAGTTTCTT	0.323												
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:178952085A>G	uc003fjk.2	+	21	3297	c.3140A>G	c.(3139-3141)CAT>CGT	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
FXR1	8087	broad.mit.edu	37	3	180680862	180680862	+	Silent	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:180680862T>C	uc003fkq.2	+	13	1204	c.1182T>C	c.(1180-1182)AAT>AAC	p.N394N	FXR1_uc003fkp.2_Silent_p.N309N|FXR1_uc003fkr.2_Silent_p.N394N|FXR1_uc011bqj.1_Silent_p.N308N|FXR1_uc003fks.2_Silent_p.N337N|FXR1_uc011bqk.1_Silent_p.N345N|FXR1_uc011bql.1_Silent_p.N381N	NM_005087	NP_005078	P51114	FXR1_HUMAN	fragile X mental retardation-related protein 1	394					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(1)	1	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GGGGACCTAATTACACCTCCG	0.348												
PARL	55486	broad.mit.edu	37	3	183551589	183551589	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:183551589C>T	uc003fmd.2	-	8	912	c.853G>A	c.(853-855)GCA>ACA	p.A285T	PARL_uc003fme.2_Missense_Mutation_p.A235T	NM_018622	NP_061092	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like isoform 1	285	Helical; (Potential).				proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity				0	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CAGACAGCTGCGAGGACTGTC	0.468												
AP2M1	1173	broad.mit.edu	37	3	183900562	183900562	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:183900562G>A	uc011bqx.1	+	11	1236	c.1079G>A	c.(1078-1080)GGC>GAC	p.G360D	AP2M1_uc003fmw.2_Missense_Mutation_p.G358D|AP2M1_uc003fmx.2_Missense_Mutation_p.G288D|AP2M1_uc003fmy.2_Missense_Mutation_p.G358D|AP2M1_uc011bqy.1_Missense_Mutation_p.G230D|AP2M1_uc011bqz.1_Missense_Mutation_p.G176D	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	360	MHD.				axon guidance|cellular membrane organization|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|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity				0	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGCATGGCAGGCATGAAGGAA	0.537												
EIF4G1	1981	broad.mit.edu	37	3	184049755	184049755	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:184049755A>G	uc003fnp.2	+	32	4697	c.4499A>G	c.(4498-4500)GAC>GGC	p.D1500G	EIF4G1_uc003fnt.2_Missense_Mutation_p.D1211G|EIF4G1_uc003fnq.2_Missense_Mutation_p.D1413G|EIF4G1_uc003fnr.2_Missense_Mutation_p.D1336G|EIF4G1_uc010hxx.2_Missense_Mutation_p.D1507G|EIF4G1_uc003fns.2_Missense_Mutation_p.D1460G|EIF4G1_uc010hxy.2_Missense_Mutation_p.D1507G|EIF4G1_uc003fnv.3_Missense_Mutation_p.D1501G|EIF4G1_uc003fnu.3_Missense_Mutation_p.D1500G|EIF4G1_uc003fnw.2_Missense_Mutation_p.D1507G|EIF4G1_uc003fnx.2_Missense_Mutation_p.D1305G|EIF4G1_uc003fny.3_Missense_Mutation_p.D1304G|EIF4G1_uc003foa.2_Missense_Mutation_p.D172G	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	1500	W2.|EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTCCGAGTGGACGTTGCAGTG	0.572												
FAM131A	131408	broad.mit.edu	37	3	184062581	184062581	+	Silent	SNP	G	G	A	rs145026576	by1000genomes	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:184062581G>A	uc003fog.2	+	3	2195	c.831G>A	c.(829-831)TCG>TCA	p.S277S	FAM131A_uc003fob.1_Silent_p.S185S|FAM131A_uc003foc.2_Silent_p.S223S|FAM131A_uc003foe.2_Silent_p.S223S	NM_144635	NP_653236	Q6UXB0	F131A_HUMAN	hypothetical protein LOC131408 precursor	277						extracellular region				breast(1)	1	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTACAACTCGCCCCTCACAG	0.672												
CHRD	8646	broad.mit.edu	37	3	184104496	184104496	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:184104496C>T	uc003fov.2	+	16	2395	c.2149C>T	c.(2149-2151)CGC>TGC	p.R717C	CHRD_uc003fow.2_Missense_Mutation_p.R347C|CHRD_uc003fox.2_Missense_Mutation_p.R717C|CHRD_uc003foy.2_Missense_Mutation_p.R347C|CHRD_uc010hyc.2_Missense_Mutation_p.R307C|CHRD_uc011brr.1_Intron	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	chordin precursor	717	VWFC 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			skin(2)|ovary(1)	3	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCACGGGGCTCGCTGGGCGCC	0.692												
EPHB3	2049	broad.mit.edu	37	3	184298288	184298288	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:184298288C>T	uc003foz.2	+	12	2708	c.2271C>T	c.(2269-2271)CGC>CGT	p.R757R		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	757	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ATGTGCACCGCGACCTGGCTG	0.577												
EPHB3	2049	broad.mit.edu	37	3	184298382	184298382	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:184298382G>A	uc003foz.2	+	12	2802	c.2365G>A	c.(2365-2367)GAT>AAT	p.D789N		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	789	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TGACCCCTCCGATCCTACCTA	0.652												
TRA2B	6434	broad.mit.edu	37	3	185643365	185643365	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:185643365G>A	uc003fpv.2	-	3	496	c.220C>T	c.(220-222)CGC>TGC	p.R74C	TRA2B_uc003fpt.2_5'Flank|TRA2B_uc003fpu.2_RNA|TRA2B_uc010hym.2_5'UTR|TRA2B_uc003fpw.2_Missense_Mutation_p.R74C	NM_004593	NP_004584	P62995	TRA2B_HUMAN	splicing factor, arginine/serine-rich 10	74	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)	2						GAGCGGGAGCGAGACCGTGAC	0.507												
FGF12	2257	broad.mit.edu	37	3	192125845	192125845	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:192125845G>A	uc003fsx.2	-	1	994	c.168C>T	c.(166-168)AGC>AGT	p.S56S	FGF12_uc003fsy.2_Intron	NM_021032	NP_066360	P61328	FGF12_HUMAN	fibroblast growth factor 12 isoform 1	56					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			ovary(1)|skin(1)|lung(1)|pancreas(1)	4	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TCTTGCGGCCGCTGCAGAAGC	0.672												
ATP13A4	84239	broad.mit.edu	37	3	193151640	193151640	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:193151640C>T	uc003ftd.2	-	25	2944	c.2836G>A	c.(2836-2838)GTA>ATA	p.V946I	ATP13A4_uc010hzi.2_RNA	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	946	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTACTTGTTACACCAATAAGA	0.408												
CPN2	1370	broad.mit.edu	37	3	194062823	194062823	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:194062823G>A	uc003fts.2	-	2	699	c.609C>T	c.(607-609)AAC>AAT	p.N203N		NM_001080513	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	203	LRR 5.				protein stabilization	extracellular region	enzyme regulator activity			ovary(5)	5	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CAGAGAGCGCGTTGTTGCTCA	0.612												
GP5	2814	broad.mit.edu	37	3	194118638	194118638	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:194118638T>C	uc003ftv.1	-	2	405	c.374A>G	c.(373-375)GAG>GGG	p.E125G		NM_004488	NP_004479	P40197	GPV_HUMAN	glycoprotein V (platelet) precursor	125	LRR 3.|Extracellular (Potential).				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				skin(2)|breast(1)	3	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		AAACAACTGCTCCAGGAGCAC	0.502												
ACAP2	23527	broad.mit.edu	37	3	195000079	195000079	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:195000079T>C	uc003fun.3	-	23	2556	c.2315A>G	c.(2314-2316)CAG>CGG	p.Q772R		NM_012287	NP_036419	Q15057	ACAP2_HUMAN	centaurin, beta 2	772					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)	2						TGAATCTTGCTGGAAACGATT	0.313												
RNF168	165918	broad.mit.edu	37	3	196210722	196210722	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:196210722T>C	uc003fwq.2	-	4	1137	c.599A>G	c.(598-600)AAT>AGT	p.N200S	RNF168_uc010iah.2_Missense_Mutation_p.N33S	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	ring finger protein 168	200					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding				0	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		TTTTCTGGAATTCAAGGGAGA	0.348												
TMEM175	84286	broad.mit.edu	37	4	944254	944254	+	Missense_Mutation	SNP	G	G	A	rs151228848	by1000genomes	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:944254G>A	uc003gbq.2	+	4	336	c.238G>A	c.(238-240)GTC>ATC	p.V80I	TMEM175_uc010ibl.1_Missense_Mutation_p.V80I|TMEM175_uc003gbp.1_5'UTR|TMEM175_uc003gbr.2_5'UTR|TMEM175_uc003gbu.2_5'UTR|TMEM175_uc003gbs.2_5'UTR|TMEM175_uc003gbt.2_5'UTR|TMEM175_uc003gbv.2_5'UTR|TMEM175_uc010ibm.2_5'Flank	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	transmembrane protein 175	80	Helical; (Potential).					integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ACGGATTGCCGTCTACCTGAT	0.572												
MAEA	10296	broad.mit.edu	37	4	1309205	1309205	+	Silent	SNP	C	C	T	rs142517889		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:1309205C>T	uc003gda.2	+	3	303	c.273C>T	c.(271-273)GCC>GCT	p.A91A	MAEA_uc010ibs.1_Silent_p.A91A|MAEA_uc003gdb.2_Silent_p.A91A|MAEA_uc011bvb.1_Intron|MAEA_uc003gdc.2_Silent_p.A91A|MAEA_uc003gdd.2_RNA|MAEA_uc011bvc.1_Silent_p.A90A|MAEA_uc011bvd.1_Silent_p.A43A|MAEA_uc010ibt.2_5'UTR	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher isoform 1	91	Extracellular and involved in cell to cell contact.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			CCATCCAGGCCGAGGACGAGA	0.657												
MAEA	10296	broad.mit.edu	37	4	1321484	1321484	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:1321484G>A	uc003gda.2	+	5	679	c.649G>A	c.(649-651)GCT>ACT	p.A217T	MAEA_uc010ibs.1_Missense_Mutation_p.A176T|MAEA_uc003gdb.2_Missense_Mutation_p.A176T|MAEA_uc011bvb.1_Missense_Mutation_p.A149T|MAEA_uc003gdc.2_Intron|MAEA_uc003gdd.2_Intron|MAEA_uc011bvc.1_Missense_Mutation_p.A216T|MAEA_uc011bvd.1_Missense_Mutation_p.A169T|MAEA_uc010ibt.2_Intron|MAEA_uc010ibu.2_5'Flank	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher isoform 1	217					cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			GAGACTGGACGCTGTGAGGTA	0.577												
TACC3	10460	broad.mit.edu	37	4	1730104	1730104	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:1730104C>T	uc003gdo.2	+	4	1083	c.975C>T	c.(973-975)GGC>GGT	p.G325G	TACC3_uc010ibz.2_Silent_p.G325G|TACC3_uc003gdp.2_Intron|TACC3_uc010ica.2_5'Flank	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing	325						centrosome				ovary(1)|central_nervous_system(1)	2		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			TGGCTGCAGGCCAAATGGCCA	0.592												
WHSC1	7468	broad.mit.edu	37	4	1955098	1955098	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:1955098C>T	uc003gdz.3	+	12	2361	c.2185C>T	c.(2185-2187)CGC>TGC	p.R729C	WHSC1_uc003geb.3_Missense_Mutation_p.R729C|WHSC1_uc003gec.3_Missense_Mutation_p.R729C|WHSC1_uc003ged.3_Missense_Mutation_p.R729C|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_5'UTR|WHSC1_uc011bvh.1_5'UTR|WHSC1_uc010icf.2_Missense_Mutation_p.R77C	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	729	PHD-type 2.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AGATGTTAAGCGCTGTGTGGT	0.438			T	IGH@	MM							
FAM193A	8603	broad.mit.edu	37	4	2664886	2664886	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:2664886A>T	uc010icl.2	+	10	1428	c.1077A>T	c.(1075-1077)GAA>GAT	p.E359D	FAM193A_uc010ick.2_Missense_Mutation_p.E559D|FAM193A_uc003gfd.2_Missense_Mutation_p.E359D|FAM193A_uc011bvm.1_Missense_Mutation_p.E381D|FAM193A_uc011bvn.1_Missense_Mutation_p.E359D|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.E213D	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	359										ovary(3)	3						CTGATGATGAAGAAGCGGACG	0.498												
HTT	3064	broad.mit.edu	37	4	3201628	3201628	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:3201628C>T	uc011bvq.1	+	42	5689	c.5544C>T	c.(5542-5544)ACC>ACT	p.T1848T		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	1846					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TCAACCACACCGACTACCGCT	0.617												
ADRA2C	152	broad.mit.edu	37	4	3768921	3768921	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:3768921C>T	uc003ghm.2	+	1	626	c.588C>T	c.(586-588)GGC>GGT	p.G196G	ADRA2C_uc010icx.2_Silent_p.G196G	NM_000683	NP_000674	P18825	ADA2C_HUMAN	alpha-2C-adrenergic receptor	196	Extracellular (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	AGCCCGACGGCGCCGCCTACC	0.677												
MSX1	4487	broad.mit.edu	37	4	4864851	4864851	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:4864851G>A	uc003gif.2	+	2	1128	c.893G>A	c.(892-894)AGC>AAC	p.S298N		NM_002448	NP_002439	P28360	MSX1_HUMAN	msh homeobox 1	292					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GTGGGCTACAGCATGTACCAC	0.706												
C4orf50	389197	broad.mit.edu	37	4	5961245	5961245	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:5961245A>C	uc003git.1	-	7	778	c.688T>G	c.(688-690)TGT>GGT	p.C230G		NM_207405	NP_997288	Q6ZRC1	CD050_HUMAN	hypothetical protein LOC389197	230										pancreas(2)|breast(1)	3						AGGGCAGGACAGGGCATTCCG	0.572												
HTRA3	94031	broad.mit.edu	37	4	8293207	8293207	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:8293207C>T	uc003gla.2	+	4	1023	c.819C>T	c.(817-819)ATC>ATT	p.I273I	HTRA3_uc003gkz.2_Silent_p.I273I	NM_053044	NP_444272	P83110	HTRA3_HUMAN	HtrA serine peptidase 3 precursor	273	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			ovary(1)	1						CAACGGGCATCGTCAGCACTG	0.632												
BOD1L	259282	broad.mit.edu	37	4	13604573	13604573	+	Silent	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:13604573G>T	uc003gmz.1	-	10	4068	c.3951C>A	c.(3949-3951)ACC>ACA	p.T1317T	BOD1L_uc010idr.1_Silent_p.T654T	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	1317							DNA binding			ovary(5)|breast(1)	6						CCGCAGGGGAGGTGCTGGCTG	0.463												
CD38	952	broad.mit.edu	37	4	15780067	15780067	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:15780067C>T	uc011bxc.1	+	1	137	c.30C>T	c.(28-30)TCC>TCT	p.S10S	CD38_uc003goj.1_Silent_p.S10S|CD38_uc003gol.1_Silent_p.S10S	NM_001775	NP_001766	P28907	CD38_HUMAN	CD38 antigen	10	Cytoplasmic (Potential).				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			ovary(2)	2						GCCCGGTGTCCGGGGACAAAC	0.652												
ZCCHC4	29063	broad.mit.edu	37	4	25314435	25314435	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:25314435G>A	uc003grl.3	+	1	40	c.4G>A	c.(4-6)GCG>ACG	p.A2T		NM_024936	NP_079212	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	2							methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(2)	2		Breast(46;0.0503)				CGGGAAGATGGCGGCCTCCAG	0.647											OREG0016141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SLC34A2	10568	broad.mit.edu	37	4	25672389	25672389	+	Silent	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:25672389A>G	uc003grr.2	+	8	942	c.861A>G	c.(859-861)GCA>GCG	p.A287A	SLC34A2_uc003grs.2_Silent_p.A286A|SLC34A2_uc010iev.2_Silent_p.A286A	NM_006424	NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (sodium phosphate),	287	Extracellular (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			skin(3)|ovary(1)|kidney(1)	5		Breast(46;0.0503)				GCCAAATTGCAATGAACGATG	0.428												
RBPJ	3516	broad.mit.edu	37	4	26432370	26432370	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:26432370G>T	uc003grx.1	+	12	1480	c.1244G>T	c.(1243-1245)TGG>TTG	p.W415L	RBPJ_uc003gry.1_Missense_Mutation_p.W400L|RBPJ_uc003grz.1_Missense_Mutation_p.W415L|RBPJ_uc003gsa.1_Missense_Mutation_p.W401L|RBPJ_uc003gsb.1_Missense_Mutation_p.W402L|RBPJ_uc003gsc.1_Missense_Mutation_p.L366F|uc003gsd.2_5'Flank	NM_005349	NP_005340	Q06330	SUH_HUMAN	recombining binding protein suppressor of	415	IPT/TIG.				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|central_nervous_system(1)	3		Breast(46;0.0503)				CGAGAAGGTTGGAGATGGGTC	0.448												
CCKAR	886	broad.mit.edu	37	4	26483729	26483729	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:26483729T>A	uc003gse.1	-	5	971	c.818A>T	c.(817-819)AAG>ATG	p.K273M		NM_000730	NP_000721	P32238	CCKAR_HUMAN	cholecystokinin A receptor	273	Cytoplasmic (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)	GGGCCTGGTCTTTTGCAGGTA	0.602												
PDS5A	23244	broad.mit.edu	37	4	39921982	39921982	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:39921982A>C	uc003guv.3	-	7	1232	c.692T>G	c.(691-693)CTA>CGA	p.L231R	PDS5A_uc010ifo.2_Missense_Mutation_p.L191R|PDS5A_uc003guw.3_Missense_Mutation_p.L231R	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	231					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0						TCTTTTCAATAGCACTTTTGC	0.259												
RBM47	54502	broad.mit.edu	37	4	40440364	40440364	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:40440364C>T	uc003gvc.2	-	4	1257	c.547G>A	c.(547-549)GTC>ATC	p.V183I	RBM47_uc003gvd.2_Missense_Mutation_p.V183I|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.V145I|RBM47_uc003gvg.1_Missense_Mutation_p.V183I	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	183	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(3)	3						CTGGCGTAGACGATCACGTCC	0.637												
SRP72	6731	broad.mit.edu	37	4	57335842	57335842	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:57335842G>A	uc003hbv.2	+	2	173	c.133G>A	c.(133-135)GTA>ATA	p.V45I	SRP72_uc010ihe.2_Missense_Mutation_p.V45I	NM_006947	NP_008878	O76094	SRP72_HUMAN	signal recognition particle 72kDa	45					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			ovary(1)	1	Glioma(25;0.08)|all_neural(26;0.101)					CAAAGATGACGTAACTGCCCT	0.358												
EPHA5	2044	broad.mit.edu	37	4	66535318	66535318	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:66535318G>A	uc003hcy.2	-	1	336	c.143C>T	c.(142-144)GCC>GTC	p.A48V	EPHA5_uc003hcx.2_5'Flank|EPHA5_uc003hcz.2_Missense_Mutation_p.A48V|EPHA5_uc011cah.1_Missense_Mutation_p.A48V|EPHA5_uc011cai.1_Missense_Mutation_p.A48V|EPHA5_uc003hda.2_Missense_Mutation_p.A48V|uc003hdb.2_5'Flank	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	48	Extracellular (Potential).				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						CCGGAGTGCGGCGCACAGGAG	0.721										TSP Lung(17;0.13)		
ENAM	10117	broad.mit.edu	37	4	71510476	71510476	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:71510476C>G	uc011caw.1	+	9	3614	c.3333C>G	c.(3331-3333)GAC>GAG	p.D1111E		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	enamelin precursor	1111					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			ovary(3)	3			Lung(101;0.235)			TAAATGTAGACCCACTTGATG	0.428												
IGJ	3512	broad.mit.edu	37	4	71527831	71527831	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:71527831C>T	uc003hfn.3	-	2	307	c.166G>A	c.(166-168)GTG>ATG	p.V56M	IGJ_uc010ihz.2_Missense_Mutation_p.V72M	NM_144646	NP_653247	P01591	IGJ_HUMAN	immunoglobulin J chain	56					immune response	extracellular region	antigen binding				0			Lung(101;0.235)			TTTCTCTCCACAATGTCCTCA	0.393												
SLC4A4	8671	broad.mit.edu	37	4	72222756	72222756	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:72222756C>T	uc003hfy.2	+	6	699	c.582C>T	c.(580-582)GGC>GGT	p.G194G	SLC4A4_uc010iic.2_Silent_p.G194G|SLC4A4_uc010iib.2_Silent_p.G194G|SLC4A4_uc003hfz.2_Silent_p.G194G|SLC4A4_uc003hgc.3_Silent_p.G150G|SLC4A4_uc003hga.2_Silent_p.G72G|SLC4A4_uc003hgb.3_Silent_p.G150G	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	194	Cytoplasmic (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTGAGACAGGCCTATTGAAAC	0.408												
ANKRD17	26057	broad.mit.edu	37	4	73962877	73962877	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:73962877G>A	uc003hgp.2	-	27	5251	c.5134C>T	c.(5134-5136)CGT>TGT	p.R1712C	ANKRD17_uc003hgo.2_Missense_Mutation_p.R1599C|ANKRD17_uc003hgq.2_Missense_Mutation_p.R1461C|ANKRD17_uc003hgr.2_Missense_Mutation_p.R1711C	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	1712					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTTGCCCACGCTTAGGACTT	0.383												
ANKRD17	26057	broad.mit.edu	37	4	73990925	73990925	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:73990925G>A	uc003hgp.2	-	17	3456	c.3339C>T	c.(3337-3339)GAC>GAT	p.D1113D	ANKRD17_uc003hgo.2_Silent_p.D1000D|ANKRD17_uc003hgq.2_Silent_p.D862D|ANKRD17_uc003hgr.2_Silent_p.D1112D|ANKRD17_uc011cbd.1_Silent_p.D678D	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	1113					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TACCTTTCTTGTCTCGGTGCT	0.393												
ANKRD17	26057	broad.mit.edu	37	4	74124065	74124065	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:74124065G>A	uc003hgp.2	-	1	438	c.321C>T	c.(319-321)GGC>GGT	p.G107G	ANKRD17_uc003hgq.2_Silent_p.G107G|ANKRD17_uc003hgr.2_Silent_p.G107G	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	107	Gly-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			Tgccgccgccgccacctccgc	0.383												
PPEF2	5470	broad.mit.edu	37	4	76785641	76785641	+	Nonsense_Mutation	SNP	G	G	A	rs61729786	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:76785641G>A	uc003hix.2	-	16	2317	c.1960C>T	c.(1960-1962)CGA>TGA	p.R654*	PPEF2_uc003hiy.2_RNA	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	654	EF-hand 2.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGGTTGGATCGGTTTCGATAC	0.338												
BMP3	651	broad.mit.edu	37	4	81967637	81967637	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:81967637G>T	uc003hmg.3	+	2	1382	c.1062G>T	c.(1060-1062)CAG>CAT	p.Q354H		NM_001201	NP_001192	P12645	BMP3_HUMAN	bone morphogenetic protein 3 preproprotein	354					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(4)|central_nervous_system(1)	5						TTGATGAGCAGACCCTGAAAA	0.483												
HPSE	10855	broad.mit.edu	37	4	84231184	84231184	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:84231184T>C	uc003hoj.3	-	6	989	c.890A>G	c.(889-891)CAC>CGC	p.H297R	HPSE_uc010ika.2_Missense_Mutation_p.H239R|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Missense_Mutation_p.H40R|HPSE_uc011cct.1_Missense_Mutation_p.H297R|HPSE_uc003hok.3_Missense_Mutation_p.H297R	NM_001098540	NP_001092010	Q9Y251	HPSE_HUMAN	heparanase precursor	297					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	ACATACTTACTGATGCCATGT	0.318												
FAM175A	84142	broad.mit.edu	37	4	84384689	84384689	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:84384689G>A	uc003hou.2	-	8	819	c.754C>T	c.(754-756)CGA>TGA	p.R252*	MRPS18C_uc011ccu.1_Intron|FAM175A_uc003hot.2_Nonsense_Mutation_p.R80*|FAM175A_uc003hov.2_Nonsense_Mutation_p.R143*	NM_139076	NP_620775	Q6UWZ7	F175A_HUMAN	coiled-coil domain containing 98	252	Potential.				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			kidney(1)	1						TCAATTTCTCGTTTTAATCTG	0.308												
HSD17B13	345275	broad.mit.edu	37	4	88243791	88243791	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:88243791A>T	uc003hqo.2	-	1	266	c.203T>A	c.(202-204)ATT>AAT	p.I68N	HSD17B13_uc010ikk.2_Missense_Mutation_p.I68N	NM_178135	NP_835236	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	68						extracellular region	binding|oxidoreductase activity				0		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TACCTTATTAATATCCCACAG	0.348												
HSD17B11	51170	broad.mit.edu	37	4	88293942	88293942	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:88293942A>G	uc003hqp.2	-	4	709	c.476T>C	c.(475-477)ATG>ACG	p.M159T		NM_016245	NP_057329	Q8NBQ5	DHB11_HUMAN	estradiol 17-beta-dehydrogenase 11	159					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			ovary(2)	2		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		ATTCTTCGTCATTGCAGGAAG	0.393												
ABCG2	9429	broad.mit.edu	37	4	89036197	89036197	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:89036197C>T	uc003hrg.2	-	8	1348	c.855G>A	c.(853-855)GAG>GAA	p.E285E	ABCG2_uc003hrh.2_Silent_p.E285E|ABCG2_uc003hrf.2_Silent_p.E155E	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G, member 2	285	ABC transporter.|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)	TATTATAGGCCTCACAGTGAT	0.408												
MTTP	4547	broad.mit.edu	37	4	100512480	100512480	+	Missense_Mutation	SNP	C	C	T	rs137997894	by1000genomes	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:100512480C>T	uc003hvc.3	+	6	846	c.590C>T	c.(589-591)GCG>GTG	p.A197V	MTTP_uc011cej.1_Missense_Mutation_p.A224V	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	197	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TGCAAAATAGCGAGGTCTGGA	0.343												
TBCK	93627	broad.mit.edu	37	4	107154787	107154787	+	Silent	SNP	G	G	A	rs56118383	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:107154787G>A	uc010ilv.2	-	16	1835	c.1470C>T	c.(1468-1470)TAC>TAT	p.Y490Y	TBCK_uc003hyb.2_Silent_p.Y233Y|TBCK_uc003hye.2_Silent_p.Y451Y|TBCK_uc003hyc.2_Silent_p.Y427Y|TBCK_uc003hyd.2_Silent_p.Y318Y|TBCK_uc003hyf.2_Silent_p.Y490Y	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN	TBC domain-containing protein kinase-like	490	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5						CAATTGCATCGTACTTGGCAT	0.264												
CFI	3426	broad.mit.edu	37	4	110670666	110670666	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:110670666G>A	uc003hzr.3	-	9	1241	c.1033C>T	c.(1033-1035)CGA>TGA	p.R345*	CFI_uc003hzq.2_Nonsense_Mutation_p.R142*|CFI_uc011cft.1_Nonsense_Mutation_p.R353*|CFI_uc003hzs.3_Nonsense_Mutation_p.R338*	NM_000204	NP_000195	P05156	CFAI_HUMAN	complement factor I preproprotein	345	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		AGTTGTGCTCGCTTTCCTCCC	0.403												
RRH	10692	broad.mit.edu	37	4	110765294	110765294	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:110765294G>A	uc003hzv.2	+	7	989	c.955G>A	c.(955-957)GTG>ATG	p.V319M		NM_006583	NP_006574	O14718	OPSX_HUMAN	peropsin	319	Cytoplasmic.				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	p.V319L(1)		ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		AACAATGCCTGTGACAAGTAT	0.368												
EGF	1950	broad.mit.edu	37	4	110866263	110866263	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:110866263C>T	uc003hzy.3	+	5	1224	c.772C>T	c.(772-774)CGT>TGT	p.R258C	EGF_uc011cfu.1_Missense_Mutation_p.R258C|EGF_uc011cfv.1_Missense_Mutation_p.R258C	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	258	LDL-receptor class B 4.|Extracellular (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TTTTGGTGACCGTATCTTCTA	0.343												
C4orf21	55345	broad.mit.edu	37	4	113544979	113544979	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:113544979G>A	uc003iau.2	-	4	367	c.156C>T	c.(154-156)TGC>TGT	p.C52C	C4orf21_uc003iaw.2_Silent_p.C52C	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN	prematurely terminated mRNA decay factor-like	Error:Variant_position_missing_in_Q6ZU11_after_alignment						integral to membrane	zinc ion binding				0		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ATACCTCAAGGCATTTAAGAA	0.259												
ANK2	287	broad.mit.edu	37	4	114158328	114158328	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:114158328G>T	uc003ibe.3	+	6	769	c.669G>T	c.(667-669)AAG>AAT	p.K223N	ANK2_uc003ibd.3_Missense_Mutation_p.K202N|ANK2_uc003ibf.3_Missense_Mutation_p.K223N|ANK2_uc003ibc.2_Missense_Mutation_p.K199N|ANK2_uc011cgb.1_Missense_Mutation_p.K238N	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	223					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)		TACAATCCAAGGTACTTAAAG	0.468												
SYNPO2	171024	broad.mit.edu	37	4	119948118	119948118	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:119948118G>A	uc003icm.3	+	3	790	c.594G>A	c.(592-594)GAG>GAA	p.E198E	SYNPO2_uc010ina.2_Silent_p.E198E|SYNPO2_uc010inb.2_Silent_p.E198E|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Silent_p.E126E	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	198						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						CTGTGGTTGAGCTGCAACTGT	0.552												
FAT4	79633	broad.mit.edu	37	4	126336508	126336508	+	Silent	SNP	T	T	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:126336508T>A	uc003ifj.3	+	5	6390	c.6390T>A	c.(6388-6390)GGT>GGA	p.G2130G	FAT4_uc011cgp.1_Silent_p.G428G	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2130	Cadherin 20.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CAGACAAAGGTCAACCATCTC	0.408												
FAT4	79633	broad.mit.edu	37	4	126336623	126336623	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:126336623A>G	uc003ifj.3	+	5	6505	c.6505A>G	c.(6505-6507)ACT>GCT	p.T2169A	FAT4_uc011cgp.1_Missense_Mutation_p.T467A	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2169	Cadherin 21.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						AAACACACTTACTGGAACAGA	0.378												
MFSD8	256471	broad.mit.edu	37	4	128842780	128842780	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:128842780C>T	uc003ifp.2	-	12	1412	c.1249G>A	c.(1249-1251)GCC>ACC	p.A417T	MFSD8_uc011cgu.1_Missense_Mutation_p.A372T|MFSD8_uc011cgv.1_3'UTR	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing	417	Helical; (Potential).				cell death|transmembrane transport	integral to membrane|lysosomal membrane				ovary(1)|liver(1)	2						AGGAACTGGGCCAGATGAATC	0.433												
MFSD8	256471	broad.mit.edu	37	4	128863292	128863292	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:128863292G>A	uc003ifp.2	-	6	624	c.461C>T	c.(460-462)TCA>TTA	p.S154L	MFSD8_uc011cgu.1_Missense_Mutation_p.S109L|MFSD8_uc011cgv.1_Intron|MFSD8_uc011cgw.1_Intron|MFSD8_uc011cgx.1_Missense_Mutation_p.S109L	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing	154	Cytoplasmic (Potential).				cell death|transmembrane transport	integral to membrane|lysosomal membrane				ovary(1)|liver(1)	2						AGCAGTATATGATCTAACAAC	0.343												
SETD7	80854	broad.mit.edu	37	4	140450256	140450256	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:140450256A>G	uc003ihw.2	-	4	777	c.491T>C	c.(490-492)ATG>ACG	p.M164T		NM_030648	NP_085151	Q8WTS6	SETD7_HUMAN	SET domain-containing protein 7	164					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.156)					GCCTTCTATCATCTCTCCATC	0.458												
SETD7	80854	broad.mit.edu	37	4	140454490	140454490	+	Silent	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:140454490G>T	uc003ihw.2	-	3	487	c.201C>A	c.(199-201)GCC>GCA	p.A67A	SETD7_uc003ihx.2_Silent_p.A67A	NM_030648	NP_085151	Q8WTS6	SETD7_HUMAN	SET domain-containing protein 7	67	MORN 2.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.156)					GGCCCTGCAAGGCATCATCCA	0.488												
MAML3	55534	broad.mit.edu	37	4	140641218	140641218	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:140641218G>A	uc003ihz.1	-	7	3413	c.2661C>T	c.(2659-2661)ATC>ATT	p.I887I	MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Silent_p.I355I	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	888	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)					GGTTATGTGTGATGCTCATGC	0.537												
TBC1D9	23158	broad.mit.edu	37	4	141598220	141598220	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:141598220C>T	uc010ioj.2	-	6	1159	c.887G>A	c.(886-888)CGT>CAT	p.R296H		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	296	GRAM 2.					intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GAAAAGTGCACGGTATCTCTC	0.408												
ANAPC10	10393	broad.mit.edu	37	4	145916685	145916685	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:145916685C>T	uc003iju.3	-	6	553	c.398G>A	c.(397-399)CGT>CAT	p.R133H	ANAPC10_uc003ijv.3_Missense_Mutation_p.R133H|ANAPC10_uc003ijw.3_Missense_Mutation_p.R133H	NM_014885	NP_055700	Q9UM13	APC10_HUMAN	anaphase promoting complex subunit 10	133	DOC.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin-protein ligase activity				0	all_hematologic(180;0.151)					CATGAATGTACGAGTTGGCTT	0.408												
ABCE1	6059	broad.mit.edu	37	4	146041302	146041302	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:146041302A>T	uc003ijx.2	+	11	1581	c.1141A>T	c.(1141-1143)AAT>TAT	p.N381Y	ABCE1_uc003ijy.2_Missense_Mutation_p.N381Y|ABCE1_uc010iot.2_RNA	NM_001040876	NP_001035809	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E, member 1	381	ABC transporter 2.|ATP 2 (Potential).				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			skin(1)	1	all_hematologic(180;0.151)					GCTGGGGGAAAATGGTAAGTT	0.308												
ZNF827	152485	broad.mit.edu	37	4	146824250	146824250	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:146824250A>G	uc003ikn.2	-	2	209	c.161T>C	c.(160-162)TTG>TCG	p.L54S	ZNF827_uc003ikm.2_Missense_Mutation_p.L54S|ZNF827_uc010iox.2_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)					CTCCAGAGACAACTTATAGTT	0.577												
NR3C2	4306	broad.mit.edu	37	4	149356399	149356399	+	Silent	SNP	C	C	A	rs146153919		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:149356399C>A	uc003ilj.3	-	2	1948	c.1614G>T	c.(1612-1614)TCG>TCT	p.S538S	NR3C2_uc003ilk.3_Silent_p.S538S|NR3C2_uc010iph.2_RNA	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	538	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GGTCTCTAGCCGATCGTGATA	0.478												
FBXW7	55294	broad.mit.edu	37	4	153244281	153244281	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:153244281C>T	uc003ims.2	-	12	2025	c.1876G>A	c.(1876-1878)GCT>ACT	p.A626T	FBXW7_uc011cii.1_Missense_Mutation_p.A626T|FBXW7_uc003imt.2_Missense_Mutation_p.A626T|FBXW7_uc011cih.1_Missense_Mutation_p.A450T|FBXW7_uc003imq.2_Missense_Mutation_p.A546T|FBXW7_uc003imr.2_Missense_Mutation_p.A508T	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	626	WD 7.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding			haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CAGGTCACAGCACTCTGATGC	0.343			Mis|N|D|F		colorectal|endometrial|T-ALL							
FBXW7	55294	broad.mit.edu	37	4	153258983	153258983	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:153258983G>A	uc003ims.2	-	5	981	c.832C>T	c.(832-834)CGA>TGA	p.R278*	FBXW7_uc011cii.1_Nonsense_Mutation_p.R278*|FBXW7_uc003imt.2_Nonsense_Mutation_p.R278*|FBXW7_uc011cih.1_Nonsense_Mutation_p.R102*|FBXW7_uc003imq.2_Nonsense_Mutation_p.R198*|FBXW7_uc003imr.2_Nonsense_Mutation_p.R160*	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	278	F-box.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R278*(7)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATGAAGTCTCGTTGAAACTGG	0.353			Mis|N|D|F		colorectal|endometrial|T-ALL							
GRIA2	2891	broad.mit.edu	37	4	158284174	158284174	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:158284174G>A	uc003ipm.3	+	15	3089	c.2630G>A	c.(2629-2631)GGC>GAC	p.G877D	GRIA2_uc011cit.1_Missense_Mutation_p.G830D|GRIA2_uc003ipl.3_Missense_Mutation_p.G877D|GRIA2_uc003ipk.3_Missense_Mutation_p.G830D|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	877	Cytoplasmic (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AACGTATATGGCATCGAAAGT	0.373												
FSTL5	56884	broad.mit.edu	37	4	162307362	162307362	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:162307362G>A	uc003iqh.2	-	16	2517	c.2081C>T	c.(2080-2082)ACG>ATG	p.T694M	FSTL5_uc003iqi.2_Missense_Mutation_p.T693M|FSTL5_uc010iqv.2_Missense_Mutation_p.T684M|uc010iqu.1_RNA	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	694						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TGGAGTGCCCGTCACATCACT	0.473												
DDX60L	91351	broad.mit.edu	37	4	169317201	169317201	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:169317201A>G	uc003irq.3	-	27	3787	c.3566T>C	c.(3565-3567)CTG>CCG	p.L1189P	DDX60L_uc003irr.1_Missense_Mutation_p.L1190P|DDX60L_uc003irs.1_Missense_Mutation_p.L884P	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1189							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CAGATTCTCCAGGAAATTAAT	0.338												
GALNTL6	442117	broad.mit.edu	37	4	173734826	173734826	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:173734826T>A	uc003isv.2	+	7	1611	c.875T>A	c.(874-876)ATC>AAC	p.I292N		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	292	Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)|skin(1)	4						TACAAAAGAATCCCCATCCCT	0.562												
ODZ3	55714	broad.mit.edu	37	4	183714319	183714319	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:183714319G>A	uc003ivd.1	+	25	6531	c.6494G>A	c.(6493-6495)AGT>AAT	p.S2165N		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2165	Extracellular (Potential).|YD 19.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CTGAACCCAAGTAACAGTGCG	0.453												
C4orf41	60684	broad.mit.edu	37	4	184585065	184585065	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:184585065G>A	uc003ivx.2	+	2	221	c.45G>A	c.(43-45)CGG>CGA	p.R15R	C4orf41_uc003ivw.2_Silent_p.R15R|C4orf41_uc010isc.2_5'UTR	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	hypothetical protein LOC60684 isoform a	15											0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)		TATGTTGCCGGCCTATGGCCT	0.443												
IRF2	3660	broad.mit.edu	37	4	185350182	185350182	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:185350182C>A	uc003iwf.3	-	2	237	c.37G>T	c.(37-39)GAG>TAG	p.E13*		NM_002199	NP_002190	P14316	IRF2_HUMAN	interferon regulatory factor 2	13	IRF tryptophan pentad repeat.				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		ATCTGCTCCTCCAGCCACGGG	0.582												
ACSL1	2180	broad.mit.edu	37	4	185678331	185678331	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:185678331C>T	uc003iww.2	-	21	2339	c.2045G>A	c.(2044-2046)CGG>CAG	p.R682Q	ACSL1_uc011ckm.1_Missense_Mutation_p.R511Q|ACSL1_uc003iwt.1_Missense_Mutation_p.R682Q|ACSL1_uc003iwu.1_Missense_Mutation_p.R682Q|ACSL1_uc011ckn.1_Missense_Mutation_p.R648Q|ACSL1_uc003iws.1_Missense_Mutation_p.R242Q	NM_001995	NP_001986	P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	682	Cytoplasmic (Potential).				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			ovary(2)	2		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GAAATAGTTCCGCAGCTCTGG	0.443												
FAT1	2195	broad.mit.edu	37	4	187510153	187510153	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:187510153C>T	uc003izf.2	-	27	13548	c.13360G>A	c.(13360-13362)GAA>AAA	p.E4454K	FAT1_uc010isn.2_Missense_Mutation_p.E101K|FAT1_uc003ize.2_Missense_Mutation_p.E345K	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	4454	Cytoplasmic (Potential).				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TTGCTGAATTCGGGCGGTAAC	0.527										HNSCC(5;0.00058)		
FAT1	2195	broad.mit.edu	37	4	187524086	187524086	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:187524086C>T	uc003izf.2	-	20	11641	c.11453G>A	c.(11452-11454)TGT>TAT	p.C3818Y		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3818	Extracellular (Potential).|EGF-like 1.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						GCCGCTGGGACAGACACAGGT	0.488										HNSCC(5;0.00058)		
FAT1	2195	broad.mit.edu	37	4	187557823	187557823	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:187557823C>T	uc003izf.2	-	5	4076	c.3888G>A	c.(3886-3888)GAG>GAA	p.E1296E		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1296	Extracellular (Potential).|Cadherin 11.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						ATTTGCCATGCTCATTCCCGT	0.463										HNSCC(5;0.00058)		
SLC9A3	6550	broad.mit.edu	37	5	480034	480034	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:480034G>A	uc003jbe.2	-	10	1676	c.1564C>T	c.(1564-1566)CGG>TGG	p.R522W	SLC9A3_uc011clx.1_Missense_Mutation_p.R513W|uc011cly.1_RNA	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	522	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)			TGGGCCGACCGTCTCATGAGG	0.602												
SLC12A7	10723	broad.mit.edu	37	5	1064240	1064240	+	Silent	SNP	G	G	A	rs137938985	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:1064240G>A	uc003jbu.2	-	19	2631	c.2565C>T	c.(2563-2565)GGC>GGT	p.G855G		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	855	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)	TGAGCATGCCGCCGTCGTGCA	0.687												
CLPTM1L	81037	broad.mit.edu	37	5	1344507	1344507	+	Silent	SNP	G	G	A	rs138482151	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:1344507G>A	uc003jch.2	-	2	268	c.222C>T	c.(220-222)GTC>GTT	p.V74V	CLPTM1L_uc003jcg.2_5'Flank	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	CLPTM1-like	74	Extracellular (Potential).				apoptosis	integral to membrane				breast(1)|central_nervous_system(1)	2	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		CCACATTCAAGACCAGGTCGA	0.517												
IRX2	153572	broad.mit.edu	37	5	2749765	2749765	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:2749765A>G	uc003jda.2	-	2	628	c.386T>C	c.(385-387)CTC>CCC	p.L129P	C5orf38_uc003jdc.2_5'Flank|C5orf38_uc011cmg.1_5'Flank|C5orf38_uc011cmh.1_5'Flank|C5orf38_uc011cmi.1_5'Flank|C5orf38_uc011cmj.1_5'Flank|IRX2_uc003jdb.2_Missense_Mutation_p.L129P	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	129	Homeobox; TALE-type.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)		CCAGGCCTTGAGAGTGGCCGT	0.647												
ADAMTS16	170690	broad.mit.edu	37	5	5239326	5239326	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:5239326C>T	uc003jdl.2	+	15	2355	c.2217C>T	c.(2215-2217)AAC>AAT	p.N739N	ADAMTS16_uc003jdk.1_Silent_p.N739N|ADAMTS16_uc010itk.1_RNA	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	739	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						GGGTGTGTAACGGGAATAACT	0.512												
KIAA0947	23379	broad.mit.edu	37	5	5466527	5466527	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:5466527C>T	uc003jdm.3	+	14	6195	c.5973C>T	c.(5971-5973)CAC>CAT	p.H1991H		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1991										ovary(1)|central_nervous_system(1)	2						ATTACATTCACGCCCTCTGCA	0.398												
PAPD7	11044	broad.mit.edu	37	5	6751166	6751166	+	Silent	SNP	G	G	A	rs138987439	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:6751166G>A	uc003jdx.1	+	11	1254	c.1125G>A	c.(1123-1125)CCG>CCA	p.P375P	PAPD7_uc011cmn.1_Silent_p.P366P|PAPD7_uc010itl.1_Silent_p.P195P	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN	DNA polymerase sigma	375					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			ovary(1)	1						CAGACACACCGCCCTGCACAA	0.522												
ADCY2	108	broad.mit.edu	37	5	7396481	7396481	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:7396481C>T	uc003jdz.1	+	1	139	c.72C>T	c.(70-72)GAC>GAT	p.D24D		NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	24	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						GCGGCGGAGACGGGCTGCCGC	0.652												
DNAH5	1767	broad.mit.edu	37	5	13759008	13759008	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:13759008C>T	uc003jfd.2	-	61	10408	c.10366G>A	c.(10366-10368)GCG>ACG	p.A3456T	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3456	Stalk (By similarity).|Potential.				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TCAAGTTCCGCCTGCTTGTCA	0.547									Kartagener_syndrome			
TRIO	7204	broad.mit.edu	37	5	14461390	14461390	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:14461390G>A	uc003jff.2	+	35	5472	c.5466G>A	c.(5464-5466)GCG>GCA	p.A1822A	TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Silent_p.A1471A|TRIO_uc003jfi.1_Silent_p.A125A	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1822					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					ACGACAGTGCGGCCACCCCGC	0.687												
TRIO	7204	broad.mit.edu	37	5	14498630	14498630	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:14498630A>G	uc003jff.2	+	53	8219	c.8213A>G	c.(8212-8214)GAC>GGC	p.D2738G	TRIO_uc003jfg.2_RNA	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2738	Ig-like C2-type.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					TGCCGCAGTGACCTGGGAGAG	0.587												
TRIO	7204	broad.mit.edu	37	5	14508455	14508455	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:14508455G>A	uc003jff.2	+	57	9224	c.9218G>A	c.(9217-9219)CGC>CAC	p.R3073H	TRIO_uc003jfg.2_RNA	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	3073					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					ATTGAGCGGCGCAAACACCAG	0.547												
PDZD2	23037	broad.mit.edu	37	5	32072313	32072313	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:32072313A>G	uc003jhl.2	+	17	3003	c.2615A>G	c.(2614-2616)GAT>GGT	p.D872G	PDZD2_uc003jhm.2_Missense_Mutation_p.D872G|PDZD2_uc011cnx.1_Missense_Mutation_p.D698G	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	872					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						TTTGCCCACGATGTCCCTGGC	0.537												
ADAMTS12	81792	broad.mit.edu	37	5	33576770	33576770	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:33576770C>T	uc003jia.1	-	19	3524	c.3361G>A	c.(3361-3363)GCT>ACT	p.A1121T	ADAMTS12_uc010iuq.1_Missense_Mutation_p.A1036T	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1121	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						GTTGTTGTAGCTACAAGGCCT	0.488										HNSCC(64;0.19)		
RICTOR	253260	broad.mit.edu	37	5	38968099	38968099	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:38968099G>A	uc003jlp.2	-	12	1030	c.1006C>T	c.(1006-1008)CGT>TGT	p.R336C	RICTOR_uc003jlo.2_Missense_Mutation_p.R336C|RICTOR_uc010ivf.2_Missense_Mutation_p.R51C	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	336					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)					AGAGGAAGACGAAATATATCA	0.303												
HEATR7B2	133558	broad.mit.edu	37	5	41061745	41061745	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:41061745C>T	uc003jmj.3	-	6	1032	c.542G>A	c.(541-543)CGA>CAA	p.R181Q		NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	181							binding			ovary(6)|central_nervous_system(2)	8						GTCAGACAGTCGGTTGGCATC	0.483												
FST	10468	broad.mit.edu	37	5	52778724	52778724	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:52778724C>T	uc003jpd.2	+	2	127	c.100C>T	c.(100-102)CTC>TTC	p.L34F	FST_uc003jpc.2_Missense_Mutation_p.L34F	NM_013409	NP_037541	P19883	FST_HUMAN	follistatin isoform FST344 precursor	34	TB.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity				0		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				GAACTGCTGGCTCCGTCAAGC	0.642											OREG0016608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GPBP1	65056	broad.mit.edu	37	5	56531795	56531795	+	Silent	SNP	G	G	A	rs147309086		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:56531795G>A	uc003jrh.3	+	6	1688	c.414G>A	c.(412-414)CCG>CCA	p.P138P	GPBP1_uc010iwg.2_Silent_p.P138P|GPBP1_uc003jri.3_5'UTR|GPBP1_uc003jrj.3_Silent_p.P145P|GPBP1_uc003jrk.3_Silent_p.P145P|GPBP1_uc003jrl.3_RNA	NM_022913	NP_075064	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1 isoform 1	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			large_intestine(1)|central_nervous_system(1)	2		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		TCTTCCAGCCGTCTTTAAATC	0.318												
TRIM23	373	broad.mit.edu	37	5	64909976	64909976	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:64909976C>T	uc003jty.2	-	3	401	c.315G>A	c.(313-315)GGG>GGA	p.G105G	TRIM23_uc003jtw.2_Silent_p.G105G|TRIM23_uc003jtx.2_Silent_p.G105G	NM_001656	NP_001647	P36406	TRI23_HUMAN	ADP-ribosylation factor domain protein 1 isoform	105					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|lung(1)	4		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		GACCAATAGGCCCATTCTGCA	0.353												
MAP1B	4131	broad.mit.edu	37	5	71494147	71494147	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:71494147G>A	uc003kbw.3	+	5	5206	c.4965G>A	c.(4963-4965)GAG>GAA	p.E1655E	MAP1B_uc010iyw.1_Silent_p.E1672E|MAP1B_uc010iyx.1_Silent_p.E1529E|MAP1B_uc010iyy.1_Silent_p.E1529E	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1655						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AATCTCCTGAGCAATCCCTTG	0.483												
ZNF366	167465	broad.mit.edu	37	5	71739823	71739823	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:71739823C>A	uc003kce.1	-	5	2181	c.1995G>T	c.(1993-1995)GAG>GAT	p.E665D		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	665					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CCTCCTTCTCCTCCTTGCAGG	0.647												
ZNF366	167465	broad.mit.edu	37	5	71756222	71756222	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:71756222C>T	uc003kce.1	-	2	1288	c.1102G>A	c.(1102-1104)GTG>ATG	p.V368M		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	368	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CCGCACTCCACACAGATGTTC	0.657												
IQGAP2	10788	broad.mit.edu	37	5	75993813	75993813	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:75993813A>G	uc003kek.2	+	33	4430	c.4208A>G	c.(4207-4209)GAT>GGT	p.D1403G	IQGAP2_uc011csv.1_Missense_Mutation_p.D899G|IQGAP2_uc003kel.2_Missense_Mutation_p.D899G|IQGAP2_uc010izw.1_Missense_Mutation_p.D104G	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1403					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			ovary(6)|central_nervous_system(1)	7		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TTGTTTTAGGATATTCGAAAT	0.363												
F2R	2149	broad.mit.edu	37	5	76029169	76029169	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:76029169C>T	uc003ken.3	+	2	1384	c.1119C>T	c.(1117-1119)TAC>TAT	p.Y373Y		NM_001992	NP_001983	P25116	PAR1_HUMAN	coagulation factor II receptor precursor	373	Helical; Name=7; (Potential).				activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			ovary(3)	3		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	TTTACTATTACGCTTCCTCTG	0.488												
PAPD4	167153	broad.mit.edu	37	5	78919302	78919302	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:78919302C>T	uc010jae.1	+	5	873	c.455C>T	c.(454-456)GCC>GTC	p.A152V	PAPD4_uc003kgb.2_Missense_Mutation_p.A152V|PAPD4_uc010jaf.1_Missense_Mutation_p.A152V|PAPD4_uc003kga.2_Missense_Mutation_p.A152V|PAPD4_uc003kfz.2_Missense_Mutation_p.A152V	NM_001114393	NP_001107865	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	152					histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			ovary(1)	1		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		CTGCCTGAGGCCAAAGATAAG	0.299												
CMYA5	202333	broad.mit.edu	37	5	79035006	79035006	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:79035006G>A	uc003kgc.2	+	2	10490	c.10418G>A	c.(10417-10419)AGT>AAT	p.S3473N		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3473						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)		GCAGAACAAAGTACACCTGCT	0.413												
VCAN	1462	broad.mit.edu	37	5	82815967	82815967	+	Silent	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:82815967T>C	uc003kii.3	+	7	2198	c.1842T>C	c.(1840-1842)AAT>AAC	p.N614N	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.N614N|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	614	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGCCTGATAATAATGGATCAT	0.423												
CHD1	1105	broad.mit.edu	37	5	98221294	98221294	+	Silent	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:98221294A>G	uc003knf.2	-	17	2704	c.2556T>C	c.(2554-2556)GCT>GCC	p.A852A		NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	852	Helicase C-terminal.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CTGATCCCTCAGCATTAAAAT	0.259												
SRP19	6728	broad.mit.edu	37	5	112203173	112203173	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:112203173C>G	uc003kqc.2	+	5	455	c.374C>G	c.(373-375)GCT>GGT	p.A125G	SRP19_uc003kqb.1_3'UTR|SRP19_uc011cvu.1_Intron|SRP19_uc011cvv.1_Intron	NM_003135	NP_003126	P09132	SRP19_HUMAN	signal recognition particle 19kDa	125					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding				0		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		ACAGGAGGTGCTGACCAAAGT	0.313												
CSNK1G3	1456	broad.mit.edu	37	5	122926231	122926231	+	Silent	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:122926231T>C	uc003ktm.2	+	9	1688	c.969T>C	c.(967-969)TAT>TAC	p.Y323Y	CSNK1G3_uc003ktl.2_Silent_p.Y323Y|CSNK1G3_uc003ktn.2_Silent_p.Y323Y|CSNK1G3_uc003kto.2_Silent_p.Y323Y|CSNK1G3_uc011cwr.1_Silent_p.Y248Y|CSNK1G3_uc011cws.1_Silent_p.Y211Y|CSNK1G3_uc010jda.2_Silent_p.Y324Y	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3 isoform 1	323					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity				0		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		ATTATGAATATGACTGGATTG	0.279												
ZNF608	57507	broad.mit.edu	37	5	124036756	124036756	+	Silent	SNP	A	A	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:124036756A>C	uc003ktq.1	-	2	1236	c.1113T>G	c.(1111-1113)CCT>CCG	p.P371P	ZNF608_uc003ktr.1_RNA|ZNF608_uc003kts.1_Silent_p.P371P|ZNF608_uc003ktt.1_Silent_p.P371P	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	371						intracellular	zinc ion binding			skin(3)|ovary(2)|lung(1)	6		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CACTGGTCCCAGGTTCACAGG	0.463												
ADAMTS19	171019	broad.mit.edu	37	5	129015539	129015539	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:129015539C>T	uc003kvb.1	+	17	2571	c.2571C>T	c.(2569-2571)ACC>ACT	p.T857T	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	857	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CTGGAACTACCGTTCATTATG	0.428												
SEPT8	23176	broad.mit.edu	37	5	132100012	132100012	+	Missense_Mutation	SNP	C	C	T	rs76417071	by1000genomes	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:132100012C>T	uc003kxr.2	-	3	489	c.251G>A	c.(250-252)CGG>CAG	p.R84Q	SEPT8_uc003kxs.1_Missense_Mutation_p.R84Q|SEPT8_uc003kxu.2_Missense_Mutation_p.R84Q|SEPT8_uc011cxi.1_Missense_Mutation_p.R84Q|SEPT8_uc003kxv.2_Missense_Mutation_p.R84Q|SEPT8_uc003kxt.2_Missense_Mutation_p.R24Q	NM_001098811	NP_001092281	Q92599	SEPT8_HUMAN	septin 8 isoform a	84					cell cycle	septin complex	GTP binding|protein binding			ovary(2)	2		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGTCTGGGGCCGCAGGCGCAC	0.562												
SEC24A	10802	broad.mit.edu	37	5	134010443	134010443	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:134010443G>A	uc003kzs.2	+	5	1244	c.956G>A	c.(955-957)AGT>AAT	p.S319N	SEC24A_uc011cxu.1_Missense_Mutation_p.S83N	NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A	319					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATTACCCAAGTGGGCCACAA	0.413												
CAMLG	819	broad.mit.edu	37	5	134077003	134077003	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:134077003G>A	uc003kzt.2	+	2	528	c.423G>A	c.(421-423)GCG>GCA	p.A141A	CAMLG_uc003kzu.2_Intron	NM_001745	NP_001736	P49069	CAMLG_HUMAN	calcium modulating ligand	141	Cytoplasmic (Potential).				defense response	endoplasmic reticulum|integral to membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	ACCTGACAGCGGACTCGGTCC	0.522												
KLHL3	26249	broad.mit.edu	37	5	136974736	136974736	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:136974736C>T	uc010jek.2	-	10	1569	c.1125G>A	c.(1123-1125)ACG>ACA	p.T375T	KLHL3_uc011cyc.1_Silent_p.T144T|KLHL3_uc003lbr.3_Silent_p.T293T|KLHL3_uc011cyd.1_Intron|KLHL3_uc010jel.1_Silent_p.T144T|KLHL3_uc010jem.1_Silent_p.T335T	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	kelch-like 3	375	Kelch 2.					cytoplasm|cytoskeleton	actin binding|structural molecule activity				0		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		TGGCAATGGACGTCCACTGGT	0.597												
PSD2	84249	broad.mit.edu	37	5	139192922	139192922	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:139192922C>T	uc003leu.1	+	3	605	c.400C>T	c.(400-402)CGG>TGG	p.R134W		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	134					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAGATGTGCGGGATGGCTT	0.607												
NRG2	9542	broad.mit.edu	37	5	139251400	139251400	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:139251400C>T	uc003lex.1	-	4	1243	c.1018G>A	c.(1018-1020)GGG>AGG	p.G340R	NRG2_uc003lev.1_Missense_Mutation_p.G340R|NRG2_uc003lew.1_Missense_Mutation_p.G340R|NRG2_uc003ley.1_Missense_Mutation_p.G340R	NM_004883	NP_004874	O14511	NRG2_HUMAN	neuregulin 2 isoform 1	340	Ser/Thr-rich.|Extracellular (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)			CGGGCGTGCCCCGACCAGGAT	0.562												
PCDHA1	56147	broad.mit.edu	37	5	140167916	140167916	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140167916C>T	uc003lhb.2	+	1	2041	c.2041C>T	c.(2041-2043)CGG>TGG	p.R681W	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.R681W	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	681	Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGTCTTCGCGGGCGTCGGT	0.657												
PCDHA3	56145	broad.mit.edu	37	5	140181497	140181497	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140181497G>A	uc003lhf.2	+	1	715	c.715G>A	c.(715-717)GCC>ACC	p.A239T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.A239T	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	239	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACGACAACGCCCCAGCGTT	0.438												
PCDHA4	56144	broad.mit.edu	37	5	140188299	140188299	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140188299G>A	uc003lhi.2	+	1	1628	c.1527G>A	c.(1525-1527)TCG>TCA	p.S509S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.S509S|PCDHA4_uc011daa.1_Silent_p.S509S	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	509	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTACGTTTCGGTGCATGCGG	0.677												
PCDHA7	56141	broad.mit.edu	37	5	140215847	140215847	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140215847T>C	uc003lhq.2	+	1	1879	c.1879T>C	c.(1879-1881)TAC>CAC	p.Y627H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.Y627H	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	627	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGGGCTGTACACTGGTGA	0.637												
PCDHA7	56141	broad.mit.edu	37	5	140216075	140216075	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140216075G>A	uc003lhq.2	+	1	2107	c.2107G>A	c.(2107-2109)GCC>ACC	p.A703T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.A703T	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	703	Helical; (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGATCATCGCCATCTGCGC	0.612												
PCDHA11	56138	broad.mit.edu	37	5	140248773	140248773	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140248773G>A	uc003lia.2	+	1	943	c.85G>A	c.(85-87)GGC>AGC	p.G29S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.G29S	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	29					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGGGAGCGGCCAGCTCCA	0.627												
PCDHAC2	56134	broad.mit.edu	37	5	140346751	140346751	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140346751G>A	uc003lii.2	+	1	640	c.400G>A	c.(400-402)GTT>ATT	p.V134I	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.V134I	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	134	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGAGCGCCGTTGAGGTGGA	0.627												
PCDHB1	29930	broad.mit.edu	37	5	140431715	140431715	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140431715G>A	uc003lik.1	+	1	737	c.660G>A	c.(658-660)CCG>CCA	p.P220P		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	220	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGGTCCCCGCCTAAGTCTG	0.582												
PCDHB2	56133	broad.mit.edu	37	5	140476009	140476009	+	Silent	SNP	C	C	T	rs147433427		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140476009C>T	uc003lil.2	+	1	1773	c.1635C>T	c.(1633-1635)AGC>AGT	p.S545S	PCDHB2_uc003lim.1_Silent_p.S206S	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	545	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTTGAGCAGCGAGGCGCTGG	0.706												
PCDHB3	56132	broad.mit.edu	37	5	140482006	140482006	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140482006G>A	uc003lio.2	+	1	1773	c.1773G>A	c.(1771-1773)GCG>GCA	p.A591A	uc003lin.2_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	591	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGTGGTGGCGGTGGACGGCG	0.711												
PCDHB5	26167	broad.mit.edu	37	5	140516916	140516916	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140516916G>A	uc003liq.2	+	1	2117	c.1900G>A	c.(1900-1902)GCG>ACG	p.A634T		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	634	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGCGCGACGCGGCCAAGCA	0.692												
PCDHB9	56127	broad.mit.edu	37	5	140567449	140567449	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140567449A>G	uc003liw.1	+	1	557	c.557A>G	c.(556-558)GAT>GGT	p.D186G		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	186	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)			AGTGGCAGTGATGAAGGCATG	0.458												
PCDHB9	56127	broad.mit.edu	37	5	140568526	140568526	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140568526G>A	uc003liw.1	+	3	1635	c.1635G>A	c.(1633-1635)GCG>GCA	p.A545A		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	545	Extracellular (Potential).|Cadherin 5.				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)			GCAGCGAGGCGCTGGTGCGCG	0.692												
PCDHB9	56127	broad.mit.edu	37	5	140569216	140569216	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140569216G>A	uc003liw.1	+	3	2325	c.2325G>A	c.(2323-2325)CCG>CCA	p.P775P	PCDHB10_uc003lix.2_5'Flank	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	775	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCACCTCCCGCCCCATAGGG	0.483												
PCDHB12	56124	broad.mit.edu	37	5	140588663	140588663	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140588663C>T	uc003liz.2	+	1	373	c.184C>T	c.(184-186)CGG>TGG	p.R62W	PCDHB12_uc011dak.1_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	62	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGTCTTCGCGGGGGGCTCG	0.507												
PCDHB12	56124	broad.mit.edu	37	5	140589450	140589450	+	Missense_Mutation	SNP	G	G	T	rs139586852		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140589450G>T	uc003liz.2	+	1	1160	c.971G>T	c.(970-972)GGG>GTG	p.G324V	PCDHB12_uc011dak.1_5'UTR	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	324	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.G324E(1)		skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACAGATGGGGGAGGACTT	0.383												
PCDHGA6	56109	broad.mit.edu	37	5	140754671	140754671	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140754671A>G	uc003ljy.1	+	1	1021	c.1021A>G	c.(1021-1023)AAT>GAT	p.N341D	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.N341D	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	341	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGGATGTCAATGATAATGT	0.453												
PCDHGA9	56107	broad.mit.edu	37	5	140783640	140783640	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140783640G>A	uc003lkh.1	+	1	1121	c.1121G>A	c.(1120-1122)CGA>CAA	p.R374Q	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.R374Q	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	374	Cadherin 4.|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)			GCTCATGACCGAGACTCCGGG	0.408												
PCDHGB7	56099	broad.mit.edu	37	5	140799286	140799286	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140799286G>A	uc003lkn.1	+	1	2005	c.1860G>A	c.(1858-1860)GGG>GGA	p.G620G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Silent_p.G620G|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	620	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGCCTGGGGCTGCGAACAG	0.662												
ARAP3	64411	broad.mit.edu	37	5	141050145	141050145	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:141050145C>T	uc003llm.2	-	14	2119	c.2041G>A	c.(2041-2043)GGC>AGC	p.G681S	ARAP3_uc011dbe.1_Missense_Mutation_p.G343S|ARAP3_uc003lln.2_Missense_Mutation_p.G583S	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	681					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			breast(5)|ovary(1)|large_intestine(1)	7						TACAGGAAGCCGCTGTAAGTA	0.607												
FBXO38	81545	broad.mit.edu	37	5	147774406	147774406	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:147774406G>A	uc003lpf.1	+	2	187	c.67G>A	c.(67-69)GCA>ACA	p.A23T	FBXO38_uc003lpg.1_Missense_Mutation_p.A23T|FBXO38_uc003lph.2_Missense_Mutation_p.A23T	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b	23						cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAATGACAGCAGATGAAAC	0.373												
AFAP1L1	134265	broad.mit.edu	37	5	148685930	148685930	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:148685930C>T	uc003lqh.2	+	6	629	c.498C>T	c.(496-498)TAC>TAT	p.Y166Y	AFAP1L1_uc003lqg.3_Silent_p.Y166Y|AFAP1L1_uc010jgy.2_Silent_p.Y166Y	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	166							protein binding			breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGCAGCTACCCTGCAACCA	0.567												
PDGFRB	5159	broad.mit.edu	37	5	149497347	149497347	+	Missense_Mutation	SNP	G	G	A	rs140261309	by1000genomes	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:149497347G>A	uc003lro.2	-	22	3440	c.2971C>T	c.(2971-2973)CGC>TGC	p.R991C	PDGFRB_uc010jhd.2_Missense_Mutation_p.R830C	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	991	Cytoplasmic (Potential).				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCAGGCAAGCGGGCCTGGGAC	0.562			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML							
SYNPO	11346	broad.mit.edu	37	5	150029294	150029294	+	Missense_Mutation	SNP	G	G	A	rs138664774		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:150029294G>A	uc003lsn.2	+	3	2563	c.2189G>A	c.(2188-2190)CGC>CAC	p.R730H	SYNPO_uc003lso.3_Missense_Mutation_p.R486H|SYNPO_uc003lsp.2_Missense_Mutation_p.R486H	NM_001109974	NP_001103444	Q8N3V7	SYNPO_HUMAN	synaptopodin isoform B	730					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			large_intestine(1)	1		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCTACGCCCGCCGCCAGTCA	0.627												
NMUR2	56923	broad.mit.edu	37	5	151784174	151784174	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:151784174G>A	uc003luv.2	-	1	667	c.501C>T	c.(499-501)CTC>CTT	p.L167L		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	167	Helical; Name=4; (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AGACGATGCCGAGGATCCTGA	0.632												
LARP1	23367	broad.mit.edu	37	5	154092575	154092575	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:154092575C>T	uc003lvo.2	+	1	114	c.90C>T	c.(88-90)GGC>GGT	p.G30G		NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	la related protein isoform 1	286							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCTGCCCTGGCAGACTCCCAG	0.597												
HMMR	3161	broad.mit.edu	37	5	162910330	162910330	+	Missense_Mutation	SNP	G	G	A	rs144652802		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:162910330G>A	uc003lzf.2	+	15	1921	c.1739G>A	c.(1738-1740)CGT>CAT	p.R580H	HMMR_uc003lzh.2_Missense_Mutation_p.R581H|HMMR_uc003lzg.2_Missense_Mutation_p.R565H|HMMR_uc011dem.1_Missense_Mutation_p.R494H|uc003lzi.2_Intron	NM_012484	NP_036616	O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor isoform b	580						cell surface|cytoplasm	hyaluronic acid binding				0	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		AACAAGTGGCGTCTCCTCTAT	0.303												
FBXW11	23291	broad.mit.edu	37	5	171299913	171299913	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:171299913G>A	uc003mbm.1	-	9	1611	c.1240C>T	c.(1240-1242)CGC>TGC	p.R414C	FBXW11_uc011dey.1_Missense_Mutation_p.R382C|FBXW11_uc003mbl.1_Missense_Mutation_p.R401C|FBXW11_uc003mbn.1_Missense_Mutation_p.R380C	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11 isoform	414	WD 5.				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(1)|breast(1)	2	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACAACCAGGCGATCCCTGTAC	0.478												
NKX2-5	1482	broad.mit.edu	37	5	172661804	172661804	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:172661804G>A	uc003mcm.1	-	1	459	c.283C>T	c.(283-285)CGT>TGT	p.R95C	NKX2-5_uc011dfe.1_Missense_Mutation_p.R95C|NKX2-5_uc010jjt.1_Missense_Mutation_p.R95C	NM_004387	NP_004378	P52952	NKX25_HUMAN	NK2 transcription factor related, locus 5	95	Ala/Pro-rich.				adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTGTAGGCACGTGGATAGAAG	0.682												
CLTB	1212	broad.mit.edu	37	5	175819790	175819790	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:175819790C>T	uc003meh.2	-	7	850	c.675G>A	c.(673-675)ACG>ACA	p.T225T	CLTB_uc003mei.2_Silent_p.T207T|CLTB_uc011dfn.1_RNA	NM_007097	NP_009028	P09497	CLCB_HUMAN	clathrin, light polypeptide isoform b	225					intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity				0	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		GGGACAGTGGCGTCTGCTTCA	0.627												
GPRIN1	114787	broad.mit.edu	37	5	176023872	176023872	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:176023872G>A	uc003meo.1	-	2	3139	c.2964C>T	c.(2962-2964)CGC>CGT	p.R988R		NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	G protein-regulated inducer of neurite outgrowth	988	Interaction with GNAO1 (By similarity).					growth cone|plasma membrane				ovary(2)	2	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGCAGCGCGCGGAACAGGC	0.597												
SNCB	6620	broad.mit.edu	37	5	176056536	176056536	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:176056536G>A	uc003mep.2	-	3	563	c.120C>T	c.(118-120)GTC>GTT	p.V40V	SNCB_uc003meq.2_Silent_p.V40V|SNCB_uc010jke.1_Silent_p.V40V|hsa-mir-4281|MI0015885_5'Flank|EIF4E1B_uc010jkf.1_5'Flank	NM_001001502	NP_001001502	Q16143	SYUB_HUMAN	beta-synuclein	40	4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).|2.						calcium ion binding|phospholipase inhibitor activity			ovary(1)	1	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTACCCACCGACGTAGAGGA	0.701												
EIF4E1B	253314	broad.mit.edu	37	5	176070213	176070213	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:176070213C>T	uc010jkf.1	+	4	730	c.146C>T	c.(145-147)GCC>GTC	p.A49V		NM_001099408	NP_001092878	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E	49					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity				0	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGGGAAGGCCCGGACGGGG	0.358												
UIMC1	51720	broad.mit.edu	37	5	176332464	176332464	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:176332464C>T	uc011dfp.1	-	15	2146	c.1979G>A	c.(1978-1980)GGC>GAC	p.G660D	UIMC1_uc003mfc.1_Missense_Mutation_p.G537D|UIMC1_uc003mfd.1_Missense_Mutation_p.G290D	NM_016290	NP_057374	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	660					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			ovary(3)|skin(1)	4	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGCTGCAGCCTGCCTCTTC	0.358												
NSD1	64324	broad.mit.edu	37	5	176694686	176694686	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:176694686G>T	uc003mfr.3	+	15	5408	c.5270G>T	c.(5269-5271)AGG>ATG	p.R1757M	NSD1_uc003mft.3_Missense_Mutation_p.R1488M|NSD1_uc003mfs.1_Missense_Mutation_p.R1654M|NSD1_uc011dfx.1_Missense_Mutation_p.R1405M	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1757	PWWP 2.				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)		CCACACTACAGGGAGATTGTC	0.433			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)		
RUFY1	80230	broad.mit.edu	37	5	179012795	179012795	+	Splice_Site	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:179012795A>G	uc003mka.1	+	8	957	c.957_splice	c.e8-2	p.S319_splice	RUFY1_uc003mkb.1_Splice_Site_p.S211_splice|RUFY1_uc003mkc.1_Splice_Site_p.S211_splice	NM_025158	NP_079434	Q96T51	RUFY1_HUMAN	RUN and FYVE domain-containing 1 isoform a						endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			ovary(4)|breast(1)	5	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TATTTTCTACAGCTGCACAGT	0.323										HNSCC(44;0.11)		
SQSTM1	8878	broad.mit.edu	37	5	179250039	179250039	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:179250039G>A	uc003mkw.3	+	2	382	c.287G>A	c.(286-288)CGA>CAA	p.R96Q	SQSTM1_uc011dgr.1_Missense_Mutation_p.R12Q|SQSTM1_uc011dgs.1_Missense_Mutation_p.R12Q|SQSTM1_uc003mkv.3_Missense_Mutation_p.R96Q|SQSTM1_uc003mkx.2_Missense_Mutation_p.R12Q	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	sequestosome 1 isoform 1	96	OPR.|Interaction with PRKCZ and dimerization (By similarity).				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACATCTTCCGAATCTACATT	0.488									Paget_Disease_of_Bone			
FLT4	2324	broad.mit.edu	37	5	180056351	180056351	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:180056351T>C	uc003mma.3	-	7	972	c.893A>G	c.(892-894)CAC>CGC	p.H298R	FLT4_uc003mlz.3_Missense_Mutation_p.H298R|FLT4_uc003mmb.1_5'UTR|FLT4_uc011dgy.1_Missense_Mutation_p.H298R|FLT4_uc011dgz.1_Intron	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	298	Ig-like C2-type 3.|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)	GCTGACGTTGTGGATGGTCAG	0.632									Congenital_Hereditary_Lymphedema			
BTNL3	10917	broad.mit.edu	37	5	180432603	180432603	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:180432603T>C	uc003mmr.2	+	8	1260	c.1132T>C	c.(1132-1134)TGG>CGG	p.W378R	BTNL3_uc010jlp.2_Missense_Mutation_p.W163R	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3 precursor	378	B30.2/SPRY.|Cytoplasmic (Potential).				lipid metabolic process	integral to membrane					0	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			CAATGGGTATTGGGTCCTCAG	0.507												
TRIM7	81786	broad.mit.edu	37	5	180622451	180622451	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:180622451G>A	uc003mmz.1	-	7	1318	c.1251C>T	c.(1249-1251)AGC>AGT	p.S417S	TRIM7_uc003mmv.1_Silent_p.S235S|TRIM7_uc003mmw.1_Silent_p.S209S|TRIM7_uc003mmx.1_Silent_p.S209S|TRIM7_uc003mmy.1_Silent_p.S209S	NM_203293	NP_976038	Q9C029	TRIM7_HUMAN	tripartite motif-containing 7 isoform 1	417	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		TTCGGCGCACGCTCTCGCGGG	0.721												
IRF4	3662	broad.mit.edu	37	6	394997	394997	+	Silent	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:394997A>G	uc003msz.3	+	3	506	c.393A>G	c.(391-393)GGA>GGG	p.G131G	IRF4_uc010jne.1_Silent_p.G131G|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Silent_p.G131G|IRF4_uc003mtc.1_5'Flank	NM_002460	NP_002451	Q15306	IRF4_HUMAN	interferon regulatory factor 4	131					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		TTCCTGAGGGAGCCAAAAAAG	0.498			T	IGH@	MM 							
EXOC2	55770	broad.mit.edu	37	6	532495	532495	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:532495T>A	uc003mtd.2	-	23	2488	c.2354A>T	c.(2353-2355)GAT>GTT	p.D785V	EXOC2_uc003mte.2_Missense_Mutation_p.D785V|EXOC2_uc011dho.1_Missense_Mutation_p.D380V	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Sec5 protein	785					exocytosis|protein transport					breast(4)|ovary(2)|pancreas(1)	7	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GTCCTTCCAATCAAAATATCC	0.353												
BPHL	670	broad.mit.edu	37	6	3152763	3152763	+	Missense_Mutation	SNP	G	G	A	rs151267393	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:3152763G>A	uc003mva.2	+	7	879	c.830G>A	c.(829-831)CGT>CAT	p.R277H	BPHL_uc003muz.2_RNA|BPHL_uc011dht.1_RNA|BPHL_uc003muy.2_Missense_Mutation_p.R260H	NM_004332	NP_004323	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like precursor	277					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity				0	Ovarian(93;0.0386)	all_hematologic(90;0.108)				CTGCATTTGCGTTTTGCAGAT	0.438												
DSP	1832	broad.mit.edu	37	6	7584495	7584495	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:7584495C>T	uc003mxp.1	+	24	7279	c.7000C>T	c.(7000-7002)CGA>TGA	p.R2334*	DSP_uc003mxq.1_Nonsense_Mutation_p.R1735*	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2334	Plectin 9.|Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GTCTGCAGAACGAGCTGTCAC	0.463												
BMP6	654	broad.mit.edu	37	6	7727818	7727818	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:7727818C>T	uc003mxu.3	+	1	808	c.630C>T	c.(628-630)AAC>AAT	p.N210N		NM_001718	NP_001709	P22004	BMP6_HUMAN	bone morphogenetic protein 6 preproprotein	210					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			large_intestine(2)|ovary(1)	3	Ovarian(93;0.0721)					CCTTCCTCAACGACGCGGACA	0.637												
HIVEP1	3096	broad.mit.edu	37	6	12122644	12122644	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:12122644C>T	uc003nac.2	+	4	2795	c.2616C>T	c.(2614-2616)GGC>GGT	p.G872G	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	872					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ACAAAATTGGCACTTTCTATG	0.463												
HIVEP1	3096	broad.mit.edu	37	6	12125941	12125941	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:12125941C>T	uc003nac.2	+	4	6092	c.5913C>T	c.(5911-5913)AGC>AGT	p.S1971S	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	1971					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GGACAGTAAGCGCCAGTAATC	0.413												
ATXN1	6310	broad.mit.edu	37	6	16328426	16328426	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:16328426C>T	uc003nbt.2	-	8	1087	c.116G>A	c.(115-117)CGG>CAG	p.R39Q	ATXN1_uc010jpi.2_Missense_Mutation_p.R39Q|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	39					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GCCCTCCACCCGGTGGTTGTC	0.701												
CAP2	10486	broad.mit.edu	37	6	17539525	17539525	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:17539525C>T	uc003ncb.2	+	8	905	c.662C>T	c.(661-663)GCG>GTG	p.A221V	CAP2_uc010jpk.1_RNA|CAP2_uc011dja.1_Missense_Mutation_p.A195V|CAP2_uc011djb.1_Missense_Mutation_p.A157V|CAP2_uc011djc.1_Missense_Mutation_p.A109V|CAP2_uc011djd.1_Intron	NM_006366	NP_006357	P40123	CAP2_HUMAN	adenylyl cyclase-associated protein 2	221					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			ovary(1)	1	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			ACAGTATCAGCGTTTTCTGTC	0.557												
OR2B2	81697	broad.mit.edu	37	6	27880013	27880013	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:27880013C>A	uc011dkw.1	-	1	85	c.85G>T	c.(85-87)GTG>TTG	p.V29L		NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B,	29	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AGAAACATCACAAAGGGTGGA	0.373												
HLA-F	3134	broad.mit.edu	37	6	29692082	29692082	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:29692082C>T	uc010jrl.2	+	3	591	c.467C>T	c.(466-468)GCG>GTG	p.A156V	HLA-F_uc003nnm.3_Missense_Mutation_p.A156V|HLA-F_uc003nno.3_Missense_Mutation_p.A156V|HLA-F_uc011dlx.1_Missense_Mutation_p.A156V|HLA-F_uc011dly.1_RNA	NM_018950	NP_061823	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	156	Extracellular (Potential).|Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity				0						TCCTGGACCGCGGCGGACACC	0.632												
HLA-F	3134	broad.mit.edu	37	6	29694785	29694785	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:29694785G>T	uc003nno.3	+	7	1286	c.1162G>T	c.(1162-1164)GGT>TGT	p.G388C	HLA-F_uc011dlx.1_Intron|HLA-F_uc011dly.1_Intron|LOC285830_uc003nnp.2_RNA|LOC285830_uc011dlz.1_RNA	NM_001098479	NP_001091949	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	Error:Variant_position_missing_in_P30511_after_alignment					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity				0						CCGGAAGGTGGGTGACATGTG	0.522												
ABCF1	23	broad.mit.edu	37	6	30545935	30545935	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:30545935G>A	uc003nql.2	+	4	394	c.299G>A	c.(298-300)CGT>CAT	p.R100H	ABCF1_uc003nqk.2_Missense_Mutation_p.R101H|ABCF1_uc003nqm.2_Missense_Mutation_p.R100H|ABCF1_uc010jsb.2_Missense_Mutation_p.R100H	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F, member 1	100					inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			ovary(2)	2						CTCATGGAGCGTCTTAAGAAG	0.473												
PPP1R10	5514	broad.mit.edu	37	6	30572422	30572422	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:30572422C>T	uc003nqn.1	-	12	1597	c.1045G>A	c.(1045-1047)GCA>ACA	p.A349T	PPP1R10_uc010jsc.1_Missense_Mutation_p.A3T	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	349					protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4						GGACGGTCTGCGTCCATTGCC	0.532												
VARS2	57176	broad.mit.edu	37	6	30892199	30892199	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:30892199C>T	uc003nsc.1	+	25	3167	c.2535C>T	c.(2533-2535)TGC>TGT	p.C845C	VARS2_uc011dmx.1_Silent_p.C845C|VARS2_uc011dmy.1_Silent_p.C705C|VARS2_uc011dmz.1_Silent_p.C875C|VARS2_uc011dna.1_Silent_p.C843C|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_Silent_p.C283C|VARS2_uc010jsg.1_Silent_p.C217C|VARS2_uc010jsh.1_5'UTR	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	845					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						TGTTCTCCTGCGCTGACCTCG	0.697												
BAT2	7916	broad.mit.edu	37	6	31603993	31603993	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:31603993C>T	uc003nvb.3	+	26	5881	c.5632C>T	c.(5632-5634)CCC>TCC	p.P1878S	BAT2_uc003nvc.3_Missense_Mutation_p.P1878S	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1878						cytoplasm|nucleus	protein binding				0						CAGATCACAGCCCCTATACCT	0.512												
ATF6B	1388	broad.mit.edu	37	6	32087712	32087712	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:32087712C>A	uc003nzn.2	-	9	888	c.855G>T	c.(853-855)CAG>CAT	p.Q285H	TNXB_uc010jts.1_5'Flank|ATF6B_uc003nzm.1_5'Flank|ATF6B_uc003nzo.2_Missense_Mutation_p.Q282H|ATF6B_uc003nzp.1_Translation_Start_Site	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta isoform	285	Cytoplasmic (Potential).				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GAATAGCACCCTGGATGAGGA	0.622												
AGPAT1	10554	broad.mit.edu	37	6	32137118	32137118	+	Missense_Mutation	SNP	G	G	A	rs139093368		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:32137118G>A	uc003oae.2	-	7	1105	c.787C>T	c.(787-789)CGG>TGG	p.R263W	PPT2_uc003nzy.1_RNA|AGPAT1_uc011dpj.1_RNA|AGPAT1_uc011dpk.1_Missense_Mutation_p.R227W|AGPAT1_uc003oaf.2_Missense_Mutation_p.R263W|AGPAT1_uc003oag.2_Missense_Mutation_p.R153W|AGPAT1_uc003oah.2_Missense_Mutation_p.R263W|AGPAT1_uc003oai.1_Missense_Mutation_p.R263W|AGPAT1_uc011dpl.1_Missense_Mutation_p.R151W	NM_006411	NP_006402	Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	263					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)	1						GAGATTTCCCGGAAAACAGTG	0.627												
PSMB9	5698	broad.mit.edu	37	6	32825904	32825904	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:32825904G>A	uc003sga.2	+	5	422	c.347G>A	c.(346-348)GGA>GAA	p.G116E	PSMB9_uc011dqj.1_Missense_Mutation_p.G84E	NM_148954	NP_683756	P28065	PSB9_HUMAN	proteasome beta 9 subunit isoform 2 proprotein	128					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity				0						CAACGTGAAGGAGGTCAGGTG	0.488												
COL11A2	1302	broad.mit.edu	37	6	33133582	33133582	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:33133582G>A	uc003ocx.1	-	63	4722	c.4494C>T	c.(4492-4494)GGC>GGT	p.G1498G	COL11A2_uc010jul.1_Silent_p.G68G|COL11A2_uc003ocy.1_Silent_p.G1412G|COL11A2_uc003ocz.1_Silent_p.G1391G	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	1498	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						GGATCACCTCGCCTGGGGGAC	0.627												
COL11A2	1302	broad.mit.edu	37	6	33153500	33153500	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:33153500G>A	uc003ocx.1	-	6	1082	c.854C>T	c.(853-855)ACG>ATG	p.T285M	COL11A2_uc003ocy.1_Intron|COL11A2_uc003ocz.1_Intron	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	285	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						GGTTGTCCCCGTAGTCATCAC	0.483												
GRM4	2914	broad.mit.edu	37	6	34008337	34008337	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:34008337C>T	uc003oir.3	-	6	1527	c.1357G>A	c.(1357-1359)GTC>ATC	p.V453I	GRM4_uc011dsn.1_Missense_Mutation_p.V406I|GRM4_uc010jvh.2_Missense_Mutation_p.V453I|GRM4_uc010jvi.2_Missense_Mutation_p.V145I|GRM4_uc003oio.2_Missense_Mutation_p.V145I|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.V313I|GRM4_uc003oiq.2_Missense_Mutation_p.V320I|GRM4_uc011dsm.1_Missense_Mutation_p.V284I	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	453	Extracellular (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	GAGAAGTTGACGTTTCGGATG	0.652												
SNRPC	6631	broad.mit.edu	37	6	34741334	34741334	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:34741334G>A	uc003ojt.1	+	6	482	c.467G>A	c.(466-468)CGA>CAA	p.R156Q		NM_003093	NP_003084	P09234	RU1C_HUMAN	small nuclear ribonucleoprotein polypeptide C	156					spliceosomal snRNP assembly	Cajal body|U1 snRNP	protein homodimerization activity|single-stranded RNA binding|zinc ion binding			pancreas(1)	1						GGAATGACTCGACCAGACAGA	0.537												
SRPK1	6732	broad.mit.edu	37	6	35837277	35837277	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:35837277C>T	uc003olj.2	-	11	1516	c.1393G>A	c.(1393-1395)GGA>AGA	p.G465R	SRPK1_uc011dtg.1_Missense_Mutation_p.G449R|SRPK1_uc003olh.2_Missense_Mutation_p.G358R|SRPK1_uc003oli.2_Missense_Mutation_p.G358R	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN	SFRS protein kinase 1	465	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1						TCCAGTGGTCCGTTATGTTCT	0.418												
TRERF1	55809	broad.mit.edu	37	6	42211030	42211030	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:42211030G>A	uc003osd.2	-	15	3378	c.2815C>T	c.(2815-2817)CGG>TGG	p.R939W	TRERF1_uc011duq.1_Missense_Mutation_p.R856W|TRERF1_uc003osb.2_Missense_Mutation_p.R695W|TRERF1_uc003osc.2_Missense_Mutation_p.R695W|TRERF1_uc003ose.2_Missense_Mutation_p.R959W	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	939	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGGTGTTTCCGCCCCAGCCGC	0.567												
C6orf226	441150	broad.mit.edu	37	6	42858503	42858503	+	Silent	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:42858503T>C	uc003osw.2	-	1	52	c.24A>G	c.(22-24)CAA>CAG	p.Q8Q		NM_001008739	NP_001008739	Q5I0X4	CF226_HUMAN	hypothetical protein LOC441150	8											0						GGGCCGAGCATTGGGGACTGC	0.662												
CUL7	9820	broad.mit.edu	37	6	43020092	43020092	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:43020092G>A	uc003otq.2	-	2	738	c.435C>T	c.(433-435)AGC>AGT	p.S145S	CUL7_uc011dvb.1_Silent_p.S197S|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	145					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)			TGGCATAGGCGCTGAGCACGT	0.552												
CUL9	23113	broad.mit.edu	37	6	43166449	43166449	+	Missense_Mutation	SNP	G	G	A	rs145736095	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:43166449G>A	uc003ouk.2	+	12	2981	c.2906G>A	c.(2905-2907)CGT>CAT	p.R969H	CUL9_uc003oul.2_Missense_Mutation_p.R969H|CUL9_uc010jyk.2_Missense_Mutation_p.R121H	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	969					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						GACTTGGAGCGTGTGCTGTGC	0.637												
ABCC10	89845	broad.mit.edu	37	6	43417235	43417235	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:43417235C>T	uc003ouy.1	+	21	4494	c.4279C>T	c.(4279-4281)CGC>TGC	p.R1427C	ABCC10_uc003ouz.1_Missense_Mutation_p.R1399C|ABCC10_uc010jyo.1_Missense_Mutation_p.R533C	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	1427	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CATCTGCAAACGCTTTGCCAA	0.537												
PAQR8	85315	broad.mit.edu	37	6	52269023	52269023	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:52269023G>A	uc003pao.3	+	2	1186	c.1012G>A	c.(1012-1014)GCA>ACA	p.A338T		NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member	338	Helical; Name=7; (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding				0	Lung NSC(77;0.0875)					TGCTGCCACCGCAGCCCTTCT	0.592												
KHDRBS2	202559	broad.mit.edu	37	6	62604715	62604715	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:62604715G>T	uc003peg.2	-	6	882	c.635C>A	c.(634-636)CCT>CAT	p.P212H		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	212	Pro-rich.				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)		TGGTGGGGGAGGAGGAATGGC	0.542												
PHF3	23469	broad.mit.edu	37	6	64395471	64395471	+	Silent	SNP	T	T	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:64395471T>A	uc003pep.1	+	3	1874	c.1848T>A	c.(1846-1848)ACT>ACA	p.T616T	PHF3_uc010kaf.1_Silent_p.T616T|PHF3_uc003pem.2_Silent_p.T569T|PHF3_uc010kag.1_Silent_p.T528T|PHF3_uc010kah.1_Silent_p.T430T|PHF3_uc003pen.2_Silent_p.T528T|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.2_Silent_p.T616T	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	616					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CTGCACAAACTGGACATGTAT	0.428												
BAI3	577	broad.mit.edu	37	6	70071269	70071269	+	Silent	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:70071269A>G	uc003pev.3	+	29	4552	c.4104A>G	c.(4102-4104)GCA>GCG	p.A1368A	BAI3_uc010kak.2_Silent_p.A1368A|BAI3_uc011dxx.1_Silent_p.A574A	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1368	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				AACATCTCGCACCCCAGGAAC	0.438												
RIMS1	22999	broad.mit.edu	37	6	73023356	73023356	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:73023356C>T	uc003pga.2	+	28	4188	c.4111C>T	c.(4111-4113)CGC>TGC	p.R1371C	RIMS1_uc011dyb.1_Missense_Mutation_p.R768C|RIMS1_uc003pgc.2_Missense_Mutation_p.R820C|RIMS1_uc010kaq.2_Missense_Mutation_p.R691C|RIMS1_uc011dyc.1_Intron|RIMS1_uc010kar.2_Intron|RIMS1_uc011dyd.1_Intron|RIMS1_uc003pgf.2_Missense_Mutation_p.R380C|RIMS1_uc003pgg.2_Intron|RIMS1_uc003pgi.2_Intron|RIMS1_uc003pgh.2_Intron|RIMS1_uc003pgd.2_Missense_Mutation_p.R437C|RIMS1_uc003pge.2_Missense_Mutation_p.R411C|RIMS1_uc011dye.1_Missense_Mutation_p.R177C|RIMS1_uc011dyf.1_Intron	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1371	Ser-rich.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCAATCTGAGCGCCCCAGGGG	0.423												
KCNQ5	56479	broad.mit.edu	37	6	73902299	73902299	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:73902299T>C	uc003pgk.2	+	13	2068	c.1721T>C	c.(1720-1722)ATT>ACT	p.I574T	KCNQ5_uc011dyh.1_Missense_Mutation_p.I593T|KCNQ5_uc011dyi.1_Missense_Mutation_p.I584T|KCNQ5_uc010kat.2_Missense_Mutation_p.I565T|KCNQ5_uc011dyj.1_Missense_Mutation_p.I464T|KCNQ5_uc011dyk.1_Missense_Mutation_p.I324T	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	574					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GTTGATCAAATTCTTGGAAAA	0.418												
MYO6	4646	broad.mit.edu	37	6	76623784	76623784	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:76623784G>A	uc003pih.1	+	34	3723	c.3444G>A	c.(3442-3444)CAG>CAA	p.Q1148Q	MYO6_uc003pii.1_Silent_p.Q1125Q|MYO6_uc003pij.1_Silent_p.Q96Q	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	1157					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TAATAGCTCAGCAAAACCCAG	0.448												
DOPEY1	23033	broad.mit.edu	37	6	83848119	83848119	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:83848119T>C	uc003pjs.1	+	21	4618	c.4358T>C	c.(4357-4359)ATA>ACA	p.I1453T	DOPEY1_uc011dyy.1_Missense_Mutation_p.I1444T|DOPEY1_uc010kbl.1_Missense_Mutation_p.I1444T|DOPEY1_uc003pjt.2_RNA	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	1453					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)		TCTATGTACATAGAAATTCTT	0.378												
PGM3	5238	broad.mit.edu	37	6	83885707	83885707	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:83885707A>G	uc003pjv.2	-	9	1142	c.1102T>C	c.(1102-1104)TAT>CAT	p.Y368H	PGM3_uc003pjw.2_Missense_Mutation_p.Y287H|PGM3_uc011dyz.1_Missense_Mutation_p.Y396H	NM_015599	NP_056414	O95394	AGM1_HUMAN	phosphoglucomutase 3	368					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity				0		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		GCTTCAAAATAAACTCCAATG	0.373												
ZNF292	23036	broad.mit.edu	37	6	87970082	87970082	+	Silent	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:87970082A>G	uc003plm.3	+	8	6776	c.6735A>G	c.(6733-6735)CTA>CTG	p.L2245L		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	2245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GGATTGGACTAAGGGCAAGTA	0.403												
EPHA7	2045	broad.mit.edu	37	6	94120757	94120757	+	Silent	SNP	A	A	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:94120757A>T	uc003poe.2	-	3	535	c.294T>A	c.(292-294)ATT>ATA	p.I98I	EPHA7_uc003pof.2_Silent_p.I98I|EPHA7_uc011eac.1_Silent_p.I98I|EPHA7_uc003pog.3_Silent_p.I98I	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	98	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATTCTACAAAAATCCTTTGTG	0.423												
SIM1	6492	broad.mit.edu	37	6	100838492	100838492	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:100838492T>C	uc003pqj.3	-	11	2253	c.2046A>G	c.(2044-2046)ATA>ATG	p.I682M	SIM1_uc010kcu.2_Missense_Mutation_p.I682M	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	682	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GATGAGGAGATATATCCGAAT	0.453												
SIM1	6492	broad.mit.edu	37	6	100895235	100895235	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:100895235C>T	uc003pqj.3	-	8	1114	c.907G>A	c.(907-909)GGC>AGC	p.G303S	SIM1_uc010kcu.2_Missense_Mutation_p.G303S	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	303	PAC.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CATACCCAGCCGCCGTGTTTC	0.587												
GPR6	2830	broad.mit.edu	37	6	110300686	110300686	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:110300686G>A	uc011eaw.1	+	2	551	c.371G>A	c.(370-372)GGC>GAC	p.G124D	GPR6_uc011eav.1_Missense_Mutation_p.G139D|GPR6_uc003ptu.2_Missense_Mutation_p.G124D	NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	124	Helical; Name=2; (Potential).					integral to plasma membrane					0		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		GCGGGCTGTGGCCTCATCTTG	0.657												
DDO	8528	broad.mit.edu	37	6	110726062	110726062	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:110726062T>C	uc003puc.2	-	4	461	c.457A>G	c.(457-459)AAG>GAG	p.K153E	C6orf186_uc003pub.2_Intron|DDO_uc003pud.2_Intron	NM_003649	NP_003640	Q99489	OXDD_HUMAN	D-aspartate oxidase isoform a	125					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			ovary(2)|breast(1)	3		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		GGGAATTTCTTCAGCTCAGCC	0.483												
SLC16A10	117247	broad.mit.edu	37	6	111493979	111493979	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:111493979G>A	uc003pus.2	+	2	600	c.425G>A	c.(424-426)CGG>CAG	p.R142Q	SLC16A10_uc003pur.3_Missense_Mutation_p.R142Q	NM_018593	NP_061063	Q8TF71	MOT10_HUMAN	solute carrier family 16, member 10	142	Extracellular (Potential).				aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity				0		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		TTTGGTTGTCGGAAAACAGCT	0.438												
ROS1	6098	broad.mit.edu	37	6	117681166	117681166	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:117681166G>T	uc003pxp.1	-	23	3653	c.3454C>A	c.(3454-3456)CCA>ACA	p.P1152T	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	1152	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGAGGAAATGGGTTGATTTCT	0.343			T	GOPC|ROS1	glioblastoma|NSCLC							
GJA1	2697	broad.mit.edu	37	6	121768938	121768938	+	Silent	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:121768938A>G	uc003pyr.2	+	2	1195	c.945A>G	c.(943-945)GCA>GCG	p.A315A	GJA1_uc011ebo.1_Silent_p.A216A|GJA1_uc011ebp.1_Silent_p.A103A	NM_000165	NP_000156	P17302	CXA1_HUMAN	connexin 43	315	Cytoplasmic (Potential).				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			ovary(2)	2				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	ATTACAGTGCAGAACAAAATC	0.463												
C6orf174	387104	broad.mit.edu	37	6	127796465	127796465	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:127796465G>A	uc003qbd.2	-	6	3571	c.2706C>T	c.(2704-2706)GGC>GGT	p.G902G	C6orf174_uc003qbc.2_5'UTR	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	902						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		GCTCCTCGGCGCCGCGGTCGT	0.662												
TAAR9	134860	broad.mit.edu	37	6	132860086	132860086	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:132860086A>G	uc011eci.1	+	2	660	c.658A>G	c.(658-660)ATA>GTA	p.I220V		NM_175057	NP_778227	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9	220	Cytoplasmic (Potential).					plasma membrane	G-protein coupled receptor activity				0	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		ATACAGTAAGATATTTTTGGT	0.433												
HBS1L	10767	broad.mit.edu	37	6	135308816	135308816	+	Silent	SNP	C	C	T	rs140835228		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:135308816C>T	uc003qez.2	-	9	1404	c.1197G>A	c.(1195-1197)ACG>ACA	p.T399T	HBS1L_uc003qey.2_Silent_p.T235T|HBS1L_uc011ecy.1_Silent_p.T123T|HBS1L_uc011ecz.1_Silent_p.T235T|HBS1L_uc011eda.1_Silent_p.T357T	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN	Hsp70 subfamily B suppressor 1-like protein	399					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			skin(2)	2	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		CTGCAAGCTGCGTCACTCCCA	0.423												
KIAA1244	57221	broad.mit.edu	37	6	138615258	138615258	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:138615258T>C	uc003qhu.2	+	20	3497	c.3497T>C	c.(3496-3498)ATG>ACG	p.M1166T		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	1166					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCTCTGGCAATGCCAGGTAAT	0.468												
KIAA1244	57221	broad.mit.edu	37	6	138628431	138628431	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:138628431G>A	uc003qhu.2	+	23	3870	c.3870G>A	c.(3868-3870)ACG>ACA	p.T1290T		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	1290					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TGTGTTCCACGCAGATCCAGT	0.507												
KIAA1244	57221	broad.mit.edu	37	6	138655648	138655648	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:138655648G>A	uc003qhu.2	+	33	5665	c.5665G>A	c.(5665-5667)GTC>ATC	p.V1889I		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	1889					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CTTGCTCAGCGTCCAGCCTGT	0.567												
SASH1	23328	broad.mit.edu	37	6	148711347	148711347	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:148711347C>T	uc003qme.1	+	2	709	c.234C>T	c.(232-234)TGC>TGT	p.C78C		NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	78							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CCGACGTGTGCGAGAGGATGG	0.552												
LATS1	9113	broad.mit.edu	37	6	150016247	150016247	+	Silent	SNP	T	T	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:150016247T>A	uc003qmu.1	-	3	1007	c.459A>T	c.(457-459)GCA>GCT	p.A153A	LATS1_uc010kif.1_Silent_p.A48A|LATS1_uc003qmv.1_Silent_p.A153A|LATS1_uc003qmw.2_Silent_p.A153A|LATS1_uc010kig.1_Silent_p.A48A	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	153					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TGGCAGCTGCTGCAGCCATCT	0.358												
SYNE1	23345	broad.mit.edu	37	6	152542668	152542668	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:152542668C>T	uc010kiw.2	-	118	22151	c.21549G>A	c.(21547-21549)CAG>CAA	p.Q7183Q	SYNE1_uc010kiv.2_Silent_p.Q1707Q|SYNE1_uc003qos.3_Silent_p.Q1707Q|SYNE1_uc003qot.3_Silent_p.Q7112Q|SYNE1_uc003qou.3_Silent_p.Q7183Q|SYNE1_uc003qor.3_Silent_p.Q83Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7183	Cytoplasmic (Potential).|Spectrin 23.				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)		AGCTCCTTTCCTGTTTTTCCA	0.368										HNSCC(10;0.0054)		
SYNE1	23345	broad.mit.edu	37	6	152555882	152555882	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:152555882C>T	uc010kiw.2	-	111	21052	c.20450G>A	c.(20449-20451)CGG>CAG	p.R6817Q	SYNE1_uc010kiv.2_Missense_Mutation_p.R1341Q|SYNE1_uc003qos.3_Missense_Mutation_p.R1341Q|SYNE1_uc003qot.3_Missense_Mutation_p.R6746Q|SYNE1_uc003qou.3_Missense_Mutation_p.R6817Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6817	Spectrin 21.|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)		AAATTCTAGCCGGTCTTTTGC	0.383										HNSCC(10;0.0054)		
OPRM1	4988	broad.mit.edu	37	6	154360894	154360894	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:154360894C>T	uc003qpr.2	+	1	452	c.215C>T	c.(214-216)ACG>ATG	p.T72M	OPRM1_uc011efb.1_Missense_Mutation_p.T120M|OPRM1_uc011efc.1_Intron|OPRM1_uc011efd.1_Intron|OPRM1_uc011efe.1_Missense_Mutation_p.T165M|OPRM1_uc003qpn.2_Missense_Mutation_p.T72M|OPRM1_uc003qpo.1_Missense_Mutation_p.T72M|OPRM1_uc011eff.1_Missense_Mutation_p.T72M|OPRM1_uc011efg.1_Missense_Mutation_p.T72M|OPRM1_uc011efh.1_Missense_Mutation_p.T72M|OPRM1_uc003qpq.1_Missense_Mutation_p.T72M|OPRM1_uc003qpt.1_Missense_Mutation_p.T72M|OPRM1_uc011efi.1_Missense_Mutation_p.T72M|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA	NM_000914	NP_000905	P35372	OPRM_HUMAN	opioid receptor, mu 1 isoform MOR-1	72	Helical; Name=1; (Potential).				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			ovary(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	ACGGCCATCACGATCATGGCC	0.622												
FNDC1	84624	broad.mit.edu	37	6	159655393	159655393	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:159655393G>A	uc010kjv.2	+	11	4049	c.3849G>A	c.(3847-3849)ACG>ACA	p.T1283T	FNDC1_uc010kjw.1_Silent_p.T1168T	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1283						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGTACACCACGCGCGCCCCAC	0.701												
MLLT4	4301	broad.mit.edu	37	6	168347522	168347522	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:168347522C>A	uc003qwd.2	+	26	3612	c.3470C>A	c.(3469-3471)CCT>CAT	p.P1157H	MLLT4_uc003qwb.1_Missense_Mutation_p.P1142H|MLLT4_uc003qwc.1_Missense_Mutation_p.P1158H|MLLT4_uc003qwg.1_Missense_Mutation_p.P467H	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1158					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AAGAAATTGCCTGGTGATGAC	0.428			T	MLL	AL							
THBS2	7058	broad.mit.edu	37	6	169641950	169641950	+	Silent	SNP	G	G	A	rs148909888	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:169641950G>A	uc003qwt.2	-	6	1046	c.798C>T	c.(796-798)TGC>TGT	p.C266C		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	266					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		ACGAGCGTTCGCACACCTCGG	0.627												
C6orf70	55780	broad.mit.edu	37	6	170176757	170176757	+	Missense_Mutation	SNP	G	G	A	rs140632188	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:170176757G>A	uc003qxg.1	+	16	1760	c.1727G>A	c.(1726-1728)CGT>CAT	p.R576H	C6orf70_uc011ehb.1_Missense_Mutation_p.R450H|C6orf70_uc003qxh.1_Intron|C6orf70_uc010kky.1_Intron|C6orf70_uc003qxi.1_Missense_Mutation_p.R224H	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	hypothetical protein LOC55780	576						integral to membrane				ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		AACTACCTGCGTATGTGGAGT	0.592												
PDCD2	5134	broad.mit.edu	37	6	170892652	170892652	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:170892652C>T	uc003qxw.2	-	2	546	c.467G>A	c.(466-468)AGC>AAC	p.S156N	PDCD2_uc003qxv.2_Missense_Mutation_p.S123N|PDCD2_uc003qxx.1_Missense_Mutation_p.S156N|PDCD2_uc003qxy.2_Missense_Mutation_p.S123N|PDCD2_uc003qxz.2_Missense_Mutation_p.S156N|PDCD2_uc003qya.2_Missense_Mutation_p.S123N|PDCD2_uc003qyb.1_Missense_Mutation_p.S79N	NM_002598	NP_002589	Q16342	PDCD2_HUMAN	programmed cell death 2 isoform 1	156	MYND-type.				apoptosis	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding				0		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)		ATGCTCCTTGCTGCAGTAATA	0.483												
HEATR2	54919	broad.mit.edu	37	7	803547	803547	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:803547G>A	uc010krz.1	+	8	1739	c.1719G>A	c.(1717-1719)TCG>TCA	p.S573S	HEATR2_uc003siz.2_Silent_p.S441S|HEATR2_uc003sja.2_Silent_p.S31S	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	573							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)		TGACCGCGTCGCACCTTGACT	0.652												
MICALL2	79778	broad.mit.edu	37	7	1488324	1488324	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:1488324A>G	uc003skj.3	-	3	413	c.266T>C	c.(265-267)GTG>GCG	p.V89A		NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	MICAL-like 2 isoform 1	89	CH.					cytoplasm|cytoskeleton	zinc ion binding			central_nervous_system(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CCGGTCAGGCACCTTCAAGGC	0.657												
C7orf27	221927	broad.mit.edu	37	7	2582910	2582910	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:2582910G>A	uc003smi.2	-	6	893	c.851C>T	c.(850-852)GCG>GTG	p.A284V	C7orf27_uc003smh.3_5'Flank|C7orf27_uc003smj.1_3'UTR	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	hypothetical protein LOC221927 precursor	284					response to ionizing radiation	nucleus	protein binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)		CAGAGCCCGCGCCACTGTCTC	0.592												
CARD11	84433	broad.mit.edu	37	7	2976742	2976742	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:2976742G>A	uc003smv.2	-	9	1674	c.1270C>T	c.(1270-1272)CGG>TGG	p.R424W		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	424	Potential.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CAGGCCTCCCGCCGCACCATC	0.612			Mis		DLBCL							
SDK1	221935	broad.mit.edu	37	7	3991509	3991509	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:3991509C>T	uc003smx.2	+	7	1246	c.1107C>T	c.(1105-1107)AGC>AGT	p.S369S		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	369	Ig-like C2-type 3.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGCCGGGGAGCGCTTTTGAAC	0.607												
FOXK1	221937	broad.mit.edu	37	7	4799028	4799028	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:4799028G>A	uc003snc.1	+	7	1508	c.1498G>A	c.(1498-1500)GCC>ACC	p.A500T	FOXK1_uc003sna.1_Missense_Mutation_p.A337T	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	forkhead box K1	500					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			upper_aerodigestive_tract(1)|skin(1)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CTACATGCCCGCCTCCATCGT	0.697												
DAGLB	221955	broad.mit.edu	37	7	6456489	6456489	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:6456489C>A	uc003sqa.2	-	10	1452	c.1282G>T	c.(1282-1284)GCC>TCC	p.A428S	DAGLB_uc003spy.2_5'UTR|DAGLB_uc003spz.2_Missense_Mutation_p.A125S|DAGLB_uc011jwt.1_Missense_Mutation_p.A242S|DAGLB_uc011jwu.1_Missense_Mutation_p.A299S|DAGLB_uc003sqb.2_Missense_Mutation_p.A147S|DAGLB_uc003sqc.2_Missense_Mutation_p.A147S|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Missense_Mutation_p.A387S|DAGLB_uc011jww.1_RNA	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta isoform 1	428	Cytoplasmic (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		ATGCTGAAGGCTTGGCTCAAA	0.453												
NPVF	64111	broad.mit.edu	37	7	25266466	25266466	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:25266466G>A	uc003sxo.2	-	2	365	c.318C>T	c.(316-318)GCC>GCT	p.A106A		NM_022150	NP_071433	Q9HCQ7	RFRP_HUMAN	neuropeptide VF precursor	106					neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity			ovary(1)	1						GAGGCAGGTTGGCTGTTGCTC	0.488												
PDE1C	5137	broad.mit.edu	37	7	31862802	31862802	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:31862802C>A	uc003tcm.1	-	14	1936	c.1467G>T	c.(1465-1467)GAG>GAT	p.E489D	PDE1C_uc003tcn.1_Missense_Mutation_p.E489D|PDE1C_uc003tco.1_Missense_Mutation_p.E549D|PDE1C_uc003tcr.2_Missense_Mutation_p.E489D|PDE1C_uc003tcs.2_Missense_Mutation_p.E489D	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	489	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)			GGGCACTTCCCTCTGAACCAG	0.458												
NT5C3	51251	broad.mit.edu	37	7	33057165	33057165	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:33057165G>A	uc003tdk.2	-	7	671	c.594C>T	c.(592-594)CCC>CCT	p.P198P	AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Silent_p.P159P|NT5C3_uc003tdj.2_Silent_p.P159P	NM_001002010	NP_001002010	Q9H0P0	5NT3_HUMAN	5'-nucleotidase, cytosolic III isoform 1	198					nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol|endoplasmic reticulum	2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding			ovary(1)	1			GBM - Glioblastoma multiforme(11;0.0894)			ATATGAACACGGGGATGCTAT	0.383												
HECW1	23072	broad.mit.edu	37	7	43547694	43547694	+	Missense_Mutation	SNP	G	G	A	rs150833111	by1000genomes	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:43547694G>A	uc003tid.1	+	23	4435	c.3830G>A	c.(3829-3831)CGA>CAA	p.R1277Q	HECW1_uc011kbi.1_Missense_Mutation_p.R1243Q	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	1277	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						GAGCTCCAGCGAAACAAGCTC	0.547												
DBNL	28988	broad.mit.edu	37	7	44096401	44096401	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:44096401C>T	uc003tjp.3	+	5	471	c.373C>T	c.(373-375)CCT>TCT	p.P125S	DBNL_uc003tjn.2_5'UTR|DBNL_uc003tjo.3_Missense_Mutation_p.P125S|DBNL_uc003tjr.3_5'UTR|DBNL_uc003tjq.3_Missense_Mutation_p.P125S|DBNL_uc011kbm.1_Missense_Mutation_p.P100S|DBNL_uc011kbn.1_Missense_Mutation_p.P22S|DBNL_uc011kbo.1_Missense_Mutation_p.P25S|DBNL_uc011kbp.1_Intron|DBNL_uc011kbq.1_Missense_Mutation_p.P50S|DBNL_uc011kbr.1_Missense_Mutation_p.P73S|DBNL_uc011kbs.1_Missense_Mutation_p.P22S	NM_001014436	NP_001014436	Q9UJU6	DBNL_HUMAN	drebrin-like isoform b	125	ADF-H.				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			skin(1)	1						GGATGTGGAGCCTGAGTGCAT	0.612												
AEBP1	165	broad.mit.edu	37	7	44149688	44149688	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:44149688G>A	uc003tkb.2	+	10	1530	c.1225G>A	c.(1225-1227)GGC>AGC	p.G409S	AEBP1_uc003tkc.3_5'Flank|AEBP1_uc003tkd.2_5'Flank	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	409	Required for DNA-binding and interaction with NFKBIA (By similarity).|F5/8 type C.				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GCTGCGCCACGGCCTGGGGGC	0.637												
CAMK2B	816	broad.mit.edu	37	7	44286737	44286737	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:44286737G>A	uc003tkq.2	-	6	606	c.396C>T	c.(394-396)GTC>GTT	p.V132V	CAMK2B_uc003tkp.2_Silent_p.V132V|CAMK2B_uc003tkx.2_Silent_p.V132V|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Silent_p.V132V|CAMK2B_uc003tks.2_Silent_p.V132V|CAMK2B_uc003tku.2_Silent_p.V132V|CAMK2B_uc003tkv.2_Silent_p.V132V|CAMK2B_uc003tkt.2_Silent_p.V132V|CAMK2B_uc003tkw.2_Silent_p.V132V|CAMK2B_uc010kyc.2_Silent_p.V132V	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II	132	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			large_intestine(1)|ovary(1)	2						CTCTGTGGACGACCCCCATTT	0.577												
TBRG4	9238	broad.mit.edu	37	7	45145252	45145252	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:45145252G>A	uc003tmv.2	-	3	649	c.523C>T	c.(523-525)CGC>TGC	p.R175C	TBRG4_uc003tmu.2_5'UTR|TBRG4_uc003tmw.2_Missense_Mutation_p.R175C|TBRG4_uc003tmx.2_Missense_Mutation_p.R175C|TBRG4_uc011kcd.1_Missense_Mutation_p.R186C|SNORA5A_uc003tmy.2_5'Flank|SNORA5C_uc003tmz.1_5'Flank	NM_004749	NP_004740	Q969Z0	TBRG4_HUMAN	cell cycle progression 2 protein isoform 1	175					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity				0						TTCCGCATGCGCCAGCGGACC	0.632												
ZPBP	11055	broad.mit.edu	37	7	50097612	50097612	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:50097612G>A	uc003tou.2	-	4	530	c.460C>T	c.(460-462)CGT>TGT	p.R154C	ZPBP_uc011kci.1_Missense_Mutation_p.R80C|ZPBP_uc010kyw.2_Missense_Mutation_p.R153C	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein isoform 1	154					binding of sperm to zona pellucida	extracellular region					0	Glioma(55;0.08)|all_neural(89;0.245)					AGTTGAAGACGTTTAACAATT	0.294												
EGFR	1956	broad.mit.edu	37	7	55266518	55266518	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:55266518C>T	uc003tqk.2	+	23	3056	c.2810C>T	c.(2809-2811)CCC>CTC	p.P937L	EGFR_uc010kzg.1_Missense_Mutation_p.P892L|EGFR_uc011kco.1_Missense_Mutation_p.P884L	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	937	Cytoplasmic (Potential).|Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCTCAGCCACCCATATGTACC	0.532		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
TYW1	55253	broad.mit.edu	37	7	66548503	66548503	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:66548503A>G	uc003tvn.2	+	11	1510	c.1361A>G	c.(1360-1362)CAG>CGG	p.Q454R	TYW1_uc010lai.2_RNA|TYW1_uc011kef.1_Missense_Mutation_p.Q68R	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	radical S-adenosyl methionine and flavodoxin	454					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			skin(1)	1		Lung NSC(55;0.0846)|all_lung(88;0.183)				GAAAACCATCAGAACATGATT	0.438												
ELN	2006	broad.mit.edu	37	7	73477988	73477988	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:73477988C>T	uc003tzw.2	+	29	2065	c.1974C>T	c.(1972-1974)GTC>GTT	p.V658V	RFC2_uc011kfa.1_Intron|ELN_uc003tzn.2_Silent_p.V652V|ELN_uc003tzz.2_Silent_p.V571V|ELN_uc003tzo.2_Silent_p.V604V|ELN_uc003tzp.2_Silent_p.V563V|ELN_uc003tzq.2_Silent_p.V516V|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Silent_p.V633V|ELN_uc003tzt.2_Silent_p.V657V|ELN_uc003tzu.2_Silent_p.V638V|ELN_uc003tzv.2_Silent_p.V623V|ELN_uc003tzx.2_Silent_p.V642V|ELN_uc011kff.1_Silent_p.V652V|ELN_uc003tzy.2_Silent_p.V628V	NM_000501	NP_001075224	P15502	ELN_HUMAN	elastin isoform a precursor	714	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			ovary(3)|pancreas(2)	5		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GACTCGGAGTCGGAGGGCTTG	0.542			T	PAX5	B-ALL		Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome					
GTF2IRD1	9569	broad.mit.edu	37	7	73932542	73932542	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:73932542C>T	uc003uaq.2	+	5	888	c.495C>T	c.(493-495)GCC>GCT	p.A165A	GTF2IRD1_uc010lbq.2_Silent_p.A197A|GTF2IRD1_uc003uap.2_Silent_p.A165A|GTF2IRD1_uc003uar.1_Silent_p.A165A	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	165	GTF2I-like 1.					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4						GGCTGCTGGCCGTGCAGGGGC	0.677												
HIP1	3092	broad.mit.edu	37	7	75185376	75185376	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:75185376A>G	uc003uds.1	-	18	1822	c.1781T>C	c.(1780-1782)CTT>CCT	p.L594P	HIP1_uc011kfz.1_Missense_Mutation_p.L471P	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	594	Potential.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						TTCTTTCCGAAGAGCAGATAA	0.582			T	PDGFRB	CMML							
GRM3	2913	broad.mit.edu	37	7	86415922	86415922	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:86415922G>A	uc003uid.2	+	3	1913	c.814G>A	c.(814-816)GTG>ATG	p.V272M	GRM3_uc010lef.2_Missense_Mutation_p.V270M|GRM3_uc010leg.2_Missense_Mutation_p.V144M|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	272	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CGCGCGCGTCGTGGTCCTCTT	0.662												
DMTF1	9988	broad.mit.edu	37	7	86795920	86795920	+	Silent	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:86795920A>G	uc003uih.2	+	4	557	c.231A>G	c.(229-231)CCA>CCG	p.P77P	DMTF1_uc003uii.2_5'UTR|DMTF1_uc003uij.2_5'UTR|DMTF1_uc011khb.1_5'UTR|DMTF1_uc003uik.2_Intron|DMTF1_uc003uil.2_Silent_p.P77P|DMTF1_uc003uim.1_Silent_p.P77P|DMTF1_uc003uin.2_5'UTR	NM_001142327	NP_001135799	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	77	Interaction with CCND2 (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(14;0.0058)					TTGCACTTCCACGTAAGTCAC	0.378												
ABCB4	5244	broad.mit.edu	37	7	87046743	87046743	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:87046743A>G	uc003uiv.1	-	21	2643	c.2567T>C	c.(2566-2568)TTA>TCA	p.L856S	ABCB4_uc003uiw.1_Missense_Mutation_p.L856S|ABCB4_uc003uix.1_Missense_Mutation_p.L856S	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	856	Helical; (By similarity).|ABC transmembrane type-1 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CAATAGGGTTAACTGCCAACC	0.383												
HEPACAM2	253012	broad.mit.edu	37	7	92837964	92837964	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:92837964A>G	uc003umm.2	-	4	964	c.941T>C	c.(940-942)GTG>GCG	p.V314A	HEPACAM2_uc003uml.2_Missense_Mutation_p.V302A|HEPACAM2_uc010lff.2_Missense_Mutation_p.V302A|HEPACAM2_uc011khy.1_Missense_Mutation_p.V337A	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN	HEPACAM family member 2 isoform 1	314	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane				ovary(3)|breast(1)|kidney(1)	5						AGCACAGCACACATAGTCCAT	0.433												
GNG11	2791	broad.mit.edu	37	7	93551517	93551517	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:93551517G>A	uc003und.2	+	1	502	c.68G>A	c.(67-69)CGC>CAC	p.R23H		NM_004126	NP_004117	P61952	GBG11_HUMAN	guanine nucleotide binding protein gamma 11	23					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway	heterotrimeric G-protein complex	GTPase activity|signal transducer activity			kidney(1)	1	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GAGCAGCTTCGCAAAGAAGTG	0.473												
PPP1R9A	55607	broad.mit.edu	37	7	94855332	94855332	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:94855332C>T	uc003unp.2	+	7	2232	c.1950C>T	c.(1948-1950)AGC>AGT	p.S650S	PPP1R9A_uc010lfj.2_Silent_p.S672S|PPP1R9A_uc011kif.1_Silent_p.S650S|PPP1R9A_uc003unq.2_Silent_p.S650S|PPP1R9A_uc011kig.1_Silent_p.S650S	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	650	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TTCCTGGCAGCGACATGGCCA	0.478										HNSCC(28;0.073)		
LMTK2	22853	broad.mit.edu	37	7	97833426	97833426	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:97833426T>C	uc003upd.1	+	13	4704	c.4411T>C	c.(4411-4413)TTC>CTC	p.F1471L		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	1471				Missing (in Ref. 2; BAA83031).	early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TTACTCCCGGTTCTCCATCTC	0.632												
TRRAP	8295	broad.mit.edu	37	7	98519451	98519451	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:98519451G>A	uc003upp.2	+	21	2907	c.2698G>A	c.(2698-2700)GGC>AGC	p.G900S	TRRAP_uc011kis.1_Missense_Mutation_p.G900S|TRRAP_uc003upr.2_Missense_Mutation_p.G592S	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	900					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)			TAAGTTTGGCGGCAGTAACAG	0.552												
ZKSCAN5	23660	broad.mit.edu	37	7	99129277	99129277	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:99129277T>A	uc003uqv.2	+	7	2049	c.1925T>A	c.(1924-1926)TTT>TAT	p.F642Y	ZKSCAN5_uc010lfx.2_Missense_Mutation_p.F642Y|ZKSCAN5_uc003uqw.2_Missense_Mutation_p.F642Y|ZKSCAN5_uc003uqx.2_Missense_Mutation_p.F569Y|ZKSCAN5_uc003uqy.2_Missense_Mutation_p.F378Y	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	642	C2H2-type 8.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GGGAAAGGCTTTGGGAGGCGT	0.517												
AP4M1	9179	broad.mit.edu	37	7	99702715	99702715	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:99702715C>T	uc003utb.3	+	9	929	c.721C>T	c.(721-723)CTG>TTG	p.L241L	AP4M1_uc011kjg.1_Silent_p.L195L|AP4M1_uc010lgl.1_Silent_p.L241L|AP4M1_uc003utc.3_Silent_p.L248L|AP4M1_uc010lgm.2_Silent_p.L113L|AP4M1_uc003utd.2_Silent_p.L241L|AP4M1_uc011kjh.1_Silent_p.L193L|AP4M1_uc003ute.3_Silent_p.L16L|AP4M1_uc003utf.3_Silent_p.L113L	NM_004722	NP_004713	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	241	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAAGTCAGAGCTGAGAGGTGA	0.532												
TAF6	6878	broad.mit.edu	37	7	99710469	99710469	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:99710469C>T	uc003uti.2	-	6	607	c.526G>A	c.(526-528)GGA>AGA	p.G176R	TAF6_uc003utg.2_Missense_Mutation_p.G98R|TAF6_uc003uth.2_Missense_Mutation_p.G233R|TAF6_uc003utk.2_Missense_Mutation_p.G176R|TAF6_uc011kji.1_Missense_Mutation_p.G213R|TAF6_uc003utj.2_Missense_Mutation_p.G166R|TAF6_uc003utl.2_Missense_Mutation_p.G176R|TAF6_uc003utm.2_Missense_Mutation_p.G176R|TAF6_uc003utn.1_RNA	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha	176					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTCAGGGGTCCGTCTTCCTCC	0.617												
GNB2	2783	broad.mit.edu	37	7	100276170	100276170	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:100276170G>A	uc003uwb.2	+	9	1122	c.849G>A	c.(847-849)CGG>CGA	p.R283R	GNB2_uc003uwc.2_Silent_p.R239R|GNB2_uc010lhd.2_Silent_p.R239R|GNB2_uc010lhe.2_Silent_p.R239R|GNB2_uc003uwd.2_Silent_p.R183R|GNB2_uc010lhf.2_Silent_p.R183R|GNB2_uc003uwe.2_Silent_p.R283R|GNB2_uc003uwf.2_Silent_p.R183R	NM_005273	NP_005264	P62879	GBB2_HUMAN	guanine nucleotide-binding protein, beta-2	283	WD 6.				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			ovary(2)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				GCAGCGGACGGCTGCTGCTCG	0.632												
SLC12A9	56996	broad.mit.edu	37	7	100453339	100453339	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:100453339C>T	uc003uwp.2	+	4	470	c.328C>T	c.(328-330)CGC>TGC	p.R110C	SLC12A9_uc003uwo.1_Intron|SLC12A9_uc003uwq.2_Intron|SLC12A9_uc011kki.1_Intron|SLC12A9_uc003uwr.2_5'UTR|SLC12A9_uc003uws.2_5'UTR|SLC12A9_uc003uwt.2_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride	110	Cytoplasmic (Potential).					integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)					CATGATCAGCCGCACACTGGG	0.373												
MUC17	140453	broad.mit.edu	37	7	100676267	100676267	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:100676267G>A	uc003uxp.1	+	3	1623	c.1570G>A	c.(1570-1572)GCC>ACC	p.A524T	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	524	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|6.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CATGCCGGTGGCCAGTTCTGA	0.493												
MUC17	140453	broad.mit.edu	37	7	100680055	100680055	+	Silent	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:100680055C>A	uc003uxp.1	+	3	5411	c.5358C>A	c.(5356-5358)GCC>GCA	p.A1786A	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1786	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|28.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CTACTGAAGCCACTTCGTCTC	0.522												
CDHR3	222256	broad.mit.edu	37	7	105642034	105642034	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:105642034C>T	uc003vdl.3	+	7	948	c.840C>T	c.(838-840)AGC>AGT	p.S280S	CDHR3_uc003vdk.2_Intron|CDHR3_uc011kls.1_RNA|CDHR3_uc003vdm.3_Silent_p.S267S|CDHR3_uc011klt.1_Silent_p.S192S|CDHR3_uc003vdn.2_5'UTR	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	hypothetical protein LOC222256 precursor	280	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						CCACTGTTAGCAAATATTTCA	0.418												
PIK3CG	5294	broad.mit.edu	37	7	106523501	106523501	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:106523501G>A	uc003vdv.3	+	8	2738	c.2653G>A	c.(2653-2655)GCC>ACC	p.A885T	PIK3CG_uc003vdu.2_Missense_Mutation_p.A885T|PIK3CG_uc003vdw.2_Missense_Mutation_p.A885T	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	885	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						TGTGAAAGACGCCACGACAAT	0.478												
NRCAM	4897	broad.mit.edu	37	7	107832251	107832251	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:107832251C>T	uc003vfb.2	-	18	2296	c.1825G>A	c.(1825-1827)GAT>AAT	p.D609N	NRCAM_uc003vfc.2_Missense_Mutation_p.D603N|NRCAM_uc011kmk.1_Missense_Mutation_p.D604N|NRCAM_uc003vfd.2_Missense_Mutation_p.D585N|NRCAM_uc003vfe.2_Missense_Mutation_p.D585N	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	609	Ig-like 6.|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						CCGCTGTCATCGTCACTGACA	0.502												
TFEC	22797	broad.mit.edu	37	7	115624318	115624318	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:115624318G>A	uc003vhj.1	-	2	362	c.178C>T	c.(178-180)CAT>TAT	p.H60Y	TFEC_uc003vhk.1_Missense_Mutation_p.H60Y|TFEC_uc003vhl.3_Missense_Mutation_p.H60Y|TFEC_uc011kmw.1_Missense_Mutation_p.H150Y	NM_012252	NP_036384	O14948	TFEC_HUMAN	transcription factor EC isoform a	60	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			large_intestine(1)	1			STAD - Stomach adenocarcinoma(10;0.00878)			AGACATACATGCCATTGTGCA	0.368												
PTPRZ1	5803	broad.mit.edu	37	7	121651647	121651647	+	Silent	SNP	C	C	T	rs147331896		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:121651647C>T	uc003vjy.2	+	12	2942	c.2547C>T	c.(2545-2547)ACC>ACT	p.T849T	PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	849	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						CTTCAGCTACCGAGAGTGATA	0.478												
IQUB	154865	broad.mit.edu	37	7	123101607	123101607	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:123101607C>A	uc003vkn.2	-	11	2388	c.1811G>T	c.(1810-1812)TGC>TTC	p.C604F	IQUB_uc011kny.1_5'UTR|IQUB_uc003vko.2_Missense_Mutation_p.C604F|IQUB_uc010lkt.2_RNA	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	604										ovary(3)|large_intestine(1)	4						ATAAAGCTGGCAACTGTGGCA	0.373												
HYAL4	23553	broad.mit.edu	37	7	123516942	123516942	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:123516942C>T	uc003vlc.2	+	5	1817	c.1179C>T	c.(1177-1179)AAC>AAT	p.N393N	HYAL4_uc011knz.1_3'UTR	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	393	Extracellular (Potential).				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			skin(1)	1						AGATGTGGAACGCGCCCAGTT	0.507												
CALU	813	broad.mit.edu	37	7	128399049	128399049	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:128399049G>A	uc003vns.2	+	4	692	c.540G>A	c.(538-540)CTG>CTA	p.L180L	CALU_uc003vnq.2_Silent_p.L180L|CALU_uc003vnr.2_Silent_p.L180L	NM_001130674	NP_001124146	O43852	CALU_HUMAN	calumenin isoform b precursor	180	EF-hand 3.				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding				0						CAGCTTTCCTGCACCCTGAGG	0.433												
FLNC	2318	broad.mit.edu	37	7	128482949	128482949	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:128482949G>A	uc003vnz.3	+	16	2700	c.2491G>A	c.(2491-2493)GTC>ATC	p.V831I	FLNC_uc003voa.3_Missense_Mutation_p.V831I	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	831	Filamin 6.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						CACCTTCACCGTCAAGTACAC	0.592												
FLNC	2318	broad.mit.edu	37	7	128486419	128486419	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:128486419C>T	uc003vnz.3	+	23	4238	c.4029C>T	c.(4027-4029)GGC>GGT	p.G1343G	FLNC_uc003voa.3_Silent_p.G1343G	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1343	Filamin 11.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						TCCGAGTGGGCGTGACCGAGG	0.637												
TMEM209	84928	broad.mit.edu	37	7	129813694	129813694	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:129813694T>C	uc003vpn.2	-	12	1553	c.1430A>G	c.(1429-1431)CAG>CGG	p.Q477R	TMEM209_uc010lmc.1_Missense_Mutation_p.Q435R	NM_032842	NP_116231	Q96SK2	TM209_HUMAN	transmembrane protein 209	477						integral to membrane				ovary(2)|large_intestine(1)	3	Melanoma(18;0.0435)					AACAAAGTGCTGAGAAGTAAA	0.378												
CPA5	93979	broad.mit.edu	37	7	129986424	129986424	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:129986424G>A	uc010lmd.1	+	4	718	c.98G>A	c.(97-99)GGC>GAC	p.G33D	CPA5_uc003vps.2_Missense_Mutation_p.G33D|CPA5_uc003vpt.2_Missense_Mutation_p.G33D|CPA5_uc010lme.1_Missense_Mutation_p.G33D|CPA5_uc003vpu.1_Missense_Mutation_p.G33D	NM_001127441	NP_001120913	Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5 isoform 1	33					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2	Melanoma(18;0.0435)					GCAGCTTTGGGCCAAATGAAT	0.652												
PODXL	5420	broad.mit.edu	37	7	131196153	131196153	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:131196153G>A	uc003vqw.3	-	2	398	c.140C>T	c.(139-141)CCG>CTG	p.P47L	PODXL_uc003vqx.3_Missense_Mutation_p.P47L	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	podocalyxin-like isoform 1 precursor	47	Thr-rich.|Extracellular (Potential).				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				breast(2)|pancreas(1)	3	Melanoma(18;0.162)					TGCTGGAGTCGGTGCTGTTTT	0.527												
CALD1	800	broad.mit.edu	37	7	134643002	134643002	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:134643002G>T	uc003vrz.2	+	11	2481	c.2022G>T	c.(2020-2022)AAG>AAT	p.K674N	CALD1_uc003vry.2_Missense_Mutation_p.K419N|CALD1_uc003vsa.2_Missense_Mutation_p.K445N|CALD1_uc003vsb.2_Missense_Mutation_p.K419N|CALD1_uc010lmm.2_Missense_Mutation_p.K444N|CALD1_uc011kpt.1_Missense_Mutation_p.K193N|CALD1_uc003vsc.2_Missense_Mutation_p.K439N|CALD1_uc003vsd.2_Missense_Mutation_p.K413N|CALD1_uc011kpu.1_Missense_Mutation_p.K424N|CALD1_uc011kpv.1_Missense_Mutation_p.K283N|CALD1_uc003vse.2_Missense_Mutation_p.K537N|CALD1_uc010lmn.2_5'Flank	NM_033138	NP_149129	Q05682	CALD1_HUMAN	caldesmon 1 isoform 1	674	Strong actin-binding (By similarity).|Tropomyosin-binding (Potential).				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding				0						TAGTCTCCAAGATTGACAGCA	0.393												
KIAA1549	57670	broad.mit.edu	37	7	138603524	138603524	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:138603524A>T	uc011kql.1	-	2	897	c.848T>A	c.(847-849)TTA>TAA	p.L283*	KIAA1549_uc003vuk.3_Nonsense_Mutation_p.L233*|KIAA1549_uc011kqj.1_Nonsense_Mutation_p.L283*	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	283						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						CCGGGAGCTTAAAAAAAGGGT	0.517			O	BRAF	pilocytic astrocytoma							
FAM115A	9747	broad.mit.edu	37	7	143573697	143573697	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:143573697G>A	uc003wdo.1	-	2	138	c.5C>T	c.(4-6)GCG>GTG	p.A2V	FAM115A_uc011ktu.1_Intron|FAM115A_uc003wdp.1_Missense_Mutation_p.A2V	NM_014719	NP_055534	Q9Y4C2	F115A_HUMAN	hypothetical protein LOC9747	2											0	Melanoma(164;0.0903)					AGAGGGAGTCGCCATGGCTCT	0.473												
OR2A2	442361	broad.mit.edu	37	7	143806930	143806930	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:143806930G>A	uc011ktz.1	+	1	255	c.255G>A	c.(253-255)ATG>ATA	p.M85I		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A,	85	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Melanoma(164;0.0783)					CAAACCTAATGAACCAGAAAA	0.428												
TPK1	27010	broad.mit.edu	37	7	144150649	144150649	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:144150649T>C	uc003weq.2	-	9	824	c.721A>G	c.(721-723)ATC>GTC	p.I241V	TPK1_uc003weo.2_Missense_Mutation_p.I187V|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Missense_Mutation_p.I192V|TPK1_uc003wes.2_RNA	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1 isoform a	241					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			ovary(2)	2					Thiamine(DB00152)	TAGCTTTTGATGGCCATGGTC	0.478												
CNTNAP2	26047	broad.mit.edu	37	7	147092804	147092804	+	Silent	SNP	C	C	T	rs144620232		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:147092804C>T	uc003weu.1	+	10	2118	c.1602C>T	c.(1600-1602)TAC>TAT	p.Y534Y		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	534	Extracellular (Potential).|Laminin G-like 2.				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)			TAAATTTATACGAAGTGGCAC	0.433										HNSCC(39;0.1)		
CUL1	8454	broad.mit.edu	37	7	148485686	148485686	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:148485686G>A	uc010lpg.2	+	14	2043	c.1517G>A	c.(1516-1518)CGC>CAC	p.R506H	CUL1_uc003wey.2_Missense_Mutation_p.R506H|CUL1_uc003wez.2_Missense_Mutation_p.R396H|CUL1_uc003wfa.2_Missense_Mutation_p.R167H	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	506					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AAACTTCAGCGCATGTTTCAA	0.418												
SSPO	23145	broad.mit.edu	37	7	149475868	149475868	+	Splice_Site	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:149475868A>G	uc010lpk.2	+	7	836	c.836_splice	c.e7-2	p.G279_splice	SSPO_uc010lpl.1_Splice_Site	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor						cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TTCTGTGCCCAGGGCTGAGCC	0.622												
SSPO	23145	broad.mit.edu	37	7	149515744	149515744	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:149515744G>A	uc010lpk.2	+	84	11645	c.11645G>A	c.(11644-11646)GGC>GAC	p.G3882D		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	3882	TSP type-1 16.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCCCAGGTGGCTGGGGCCCA	0.701												
KCNH2	3757	broad.mit.edu	37	7	150648197	150648197	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:150648197C>T	uc003wic.2	-	8	1970	c.1957G>A	c.(1957-1959)GCT>ACT	p.A653T	KCNH2_uc003wib.2_Missense_Mutation_p.A313T|KCNH2_uc011kux.1_Missense_Mutation_p.A557T|KCNH2_uc003wid.2_Missense_Mutation_p.A313T|KCNH2_uc003wie.2_Missense_Mutation_p.A653T	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	voltage-gated potassium channel, subfamily H,	653	Helical; Name=Segment S6; (Potential).				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			skin(3)|ovary(1)	4	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	AAGATGCTAGCATACATGAGG	0.667												
ABCB8	11194	broad.mit.edu	37	7	150733214	150733214	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:150733214C>T	uc003wil.3	+	9	1212	c.1119C>T	c.(1117-1119)CGC>CGT	p.R373R	ABCB8_uc003wii.2_Silent_p.R393R|ABCB8_uc003wij.3_Silent_p.R356R|ABCB8_uc010lpw.1_Missense_Mutation_p.R257W|ABCB8_uc010lpx.2_Silent_p.R356R|ABCB8_uc011kvd.1_Silent_p.R268R|ABCB8_uc003wim.3_Silent_p.R151R|ABCB8_uc003wik.3_Silent_p.R356R	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	373	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCTGGGCCGCGGCATCGCCT	0.657												
NUB1	51667	broad.mit.edu	37	7	151052933	151052933	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:151052933G>A	uc003wjx.2	+	6	572	c.567G>A	c.(565-567)GCG>GCA	p.A189A	NUB1_uc003wjv.2_RNA|NUB1_uc003wjw.2_Silent_p.A165A|NUB1_uc010lqb.2_RNA|NUB1_uc003wjy.2_RNA|NUB1_uc011kvj.1_Intron|NUB1_uc010lqc.2_RNA	NM_016118	NP_057202	Q9Y5A7	NUB1_HUMAN	NEDD8 ultimate buster-1	165	Potential.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding				0			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		AAGAGGACGCGAGGAAAAACT	0.423												
WDR86	349136	broad.mit.edu	37	7	151093119	151093119	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:151093119C>T	uc003wkb.2	-	3	918	c.469G>A	c.(469-471)GCG>ACG	p.A157T	WDR86_uc003wka.2_Missense_Mutation_p.A115T|WDR86_uc011kvk.1_Missense_Mutation_p.A157T|WDR86_uc003wkc.2_Missense_Mutation_p.A29T	NM_198285	NP_938026	Q86TI4	WDR86_HUMAN	WD repeat domain 86	157	WD 4.										0			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCTCCTCCGCGCAGGGAGTG	0.706												
GALNT11	63917	broad.mit.edu	37	7	151791456	151791456	+	Silent	SNP	C	C	T	rs150180913	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:151791456C>T	uc010lqg.1	+	2	374	c.144C>T	c.(142-144)CAC>CAT	p.H48H	GALNT11_uc011kvm.1_Intron|GALNT11_uc003wku.2_Silent_p.H48H|GALNT11_uc003wkv.1_Silent_p.H48H|GALNT11_uc011kvn.1_RNA	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	N-acetylgalactosaminyltransferase 11	48	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)		CTGGGCCCCACGGACCATCTC	0.468												
HTR5A	3361	broad.mit.edu	37	7	154863133	154863133	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:154863133C>T	uc003wlu.1	+	1	588	c.524C>T	c.(523-525)GCC>GTC	p.A175V	uc011kvt.1_5'UTR|uc003wlt.2_5'UTR	NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	175	Helical; Name=4; (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		ATCTCTCTGGCCCCGCTGCTT	0.632												
HTR5A	3361	broad.mit.edu	37	7	154863297	154863297	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:154863297C>T	uc003wlu.1	+	1	752	c.688C>T	c.(688-690)CGC>TGC	p.R230C	uc011kvt.1_5'Flank|uc003wlt.2_5'Flank	NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	230	Cytoplasmic (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TGCCAAGTTCCGCGTGGGCTC	0.542												
NOM1	64434	broad.mit.edu	37	7	156743110	156743110	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:156743110A>G	uc003wmy.2	+	1	694	c.679A>G	c.(679-681)AAA>GAA	p.K227E		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	227	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GGAGTCTGGGAAAAATAGCGG	0.522												
DLGAP2	9228	broad.mit.edu	37	8	1645408	1645408	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:1645408C>T	uc003wpl.2	+	11	2749	c.2652C>T	c.(2650-2652)GAC>GAT	p.D884D	DLGAP2_uc003wpm.2_Silent_p.D870D	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	963					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGAAGTTCGACGAGCTGCAGC	0.632												
ARHGEF10	9639	broad.mit.edu	37	8	1808263	1808263	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:1808263G>T	uc003wpr.2	+	4	572	c.394G>T	c.(394-396)GGC>TGC	p.G132C	ARHGEF10_uc003wpq.1_Missense_Mutation_p.G156C|ARHGEF10_uc003wps.2_Missense_Mutation_p.G132C|ARHGEF10_uc003wpt.2_Missense_Mutation_p.G46C|ARHGEF10_uc010lrd.1_Missense_Mutation_p.G46C|ARHGEF10_uc003wpu.2_Missense_Mutation_p.G46C	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	156					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TGTACCCTGCGGCTATGCGGT	0.662												
RP1L1	94137	broad.mit.edu	37	8	10467651	10467651	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:10467651C>T	uc003wtc.2	-	4	4186	c.3957G>A	c.(3955-3957)GCG>GCA	p.A1319A		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1319					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		ctaactgcaccgcctcttctt	0.144												
XKR6	286046	broad.mit.edu	37	8	11058405	11058405	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:11058405C>T	uc003wtk.1	-	1	471	c.444G>A	c.(442-444)TGG>TGA	p.W148*		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	148	Helical; (Potential).					integral to membrane				ovary(1)|skin(1)	2				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CGAGGGCCAGCCACAGGTCGG	0.597												
DLC1	10395	broad.mit.edu	37	8	12946207	12946207	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:12946207C>T	uc003wwm.2	-	16	4525	c.4081G>A	c.(4081-4083)GAA>AAA	p.E1361K	DLC1_uc003wwk.1_Missense_Mutation_p.E924K|DLC1_uc003wwl.1_Missense_Mutation_p.E958K|DLC1_uc011kxx.1_Missense_Mutation_p.E850K	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	1361	START.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						GGGGGTCCTTCGCTCACCTGG	0.443												
LPL	4023	broad.mit.edu	37	8	19811791	19811791	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:19811791G>A	uc003wzk.3	+	5	1072	c.702G>A	c.(700-702)CCG>CCA	p.P234P		NM_000237	NP_000228	P06858	LIPL_HUMAN	lipoprotein lipase precursor	234			P -> L (in LPL deficiency; loss of activity).		fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	ACATTTACCCGAATGGAGGTA	0.438												
LOXL2	4017	broad.mit.edu	37	8	23155616	23155616	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:23155616C>T	uc003xdh.1	-	14	2604	c.2265G>A	c.(2263-2265)GAG>GAA	p.E755E	LOXL2_uc010lty.1_Missense_Mutation_p.R257K	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	755					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)		TTTTTTCCGTCTCTTCGCTGA	0.557												
NEFL	4747	broad.mit.edu	37	8	24811732	24811732	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:24811732C>T	uc003xee.2	-	2	1234	c.1132G>A	c.(1132-1134)GTG>ATG	p.V378M		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	378	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)		GCCATCTTCACGTTGAGGAGG	0.398												
EBF2	64641	broad.mit.edu	37	8	25890600	25890600	+	Splice_Site	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:25890600C>T	uc003xes.1	-	6	568	c.551_splice	c.e6+1	p.R184_splice	PPP2R2A_uc003xek.2_Intron|EBF2_uc003xet.1_Silent_p.R184R	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	early B-cell factor 2						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			ovary(3)|skin(1)	4		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTTCCCCCTACCTGTCAATTA	0.428												
PNMA2	10687	broad.mit.edu	37	8	26365784	26365784	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:26365784C>T	uc003xez.2	-	3	1258	c.488G>A	c.(487-489)CGG>CAG	p.R163Q		NM_007257	NP_009188	Q9UL42	PNMA2_HUMAN	paraneoplastic antigen MA2	163					apoptosis	nucleolus	protein binding				0		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		tcgcagtttccggtatctcat	0												
ADRA1A	148	broad.mit.edu	37	8	26721683	26721683	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:26721683C>A	uc003xfh.1	-	1	1240	c.804G>T	c.(802-804)AAG>AAT	p.K268N	ADRA1A_uc003xfc.1_Missense_Mutation_p.K268N|ADRA1A_uc010lul.1_Missense_Mutation_p.K268N|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Missense_Mutation_p.K268N|ADRA1A_uc010lum.1_Missense_Mutation_p.K268N|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Missense_Mutation_p.K268N	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	268	Cytoplasmic (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TGGCCGCTTTCTTCTCCCGGG	0.582												
ELP3	55140	broad.mit.edu	37	8	27965470	27965470	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:27965470A>G	uc003xgo.3	+	5	518	c.370A>G	c.(370-372)ACC>GCC	p.T124A	ELP3_uc003xgn.3_Missense_Mutation_p.T109A|ELP3_uc011laq.1_Missense_Mutation_p.T52A|ELP3_uc011lar.1_Missense_Mutation_p.T32A|ELP3_uc011las.1_Intron|ELP3_uc011lat.1_Intron	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	elongation protein 3 homolog	124					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding				0		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		TGAGTATTCCACCCAGTCTTA	0.423												
INTS9	55756	broad.mit.edu	37	8	28707759	28707759	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:28707759G>T	uc003xha.2	-	3	468	c.169C>A	c.(169-171)CTG>ATG	p.L57M	INTS9_uc011lav.1_Missense_Mutation_p.L33M|INTS9_uc011law.1_Missense_Mutation_p.L57M|INTS9_uc011lax.1_Translation_Start_Site|INTS9_uc010lvc.2_RNA|INTS9_uc003xhb.2_Missense_Mutation_p.L57M	NM_018250	NP_060720	Q9NV88	INT9_HUMAN	integrator complex subunit 9 isoform 1	57					snRNA processing	integrator complex	protein binding			central_nervous_system(1)|pancreas(1)	2		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CCATCCTTCAGGGACCAGCCA	0.393												
TEX15	56154	broad.mit.edu	37	8	30703130	30703130	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:30703130T>C	uc003xil.2	-	1	3404	c.3404A>G	c.(3403-3405)CAG>CGG	p.Q1135R		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1135	Ser-rich.									ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TACAGGCAACTGTGATTCAGG	0.403												
KCNU1	157855	broad.mit.edu	37	8	36768479	36768479	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:36768479C>T	uc010lvw.2	+	22	2450	c.2363C>T	c.(2362-2364)GCG>GTG	p.A788V	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	788	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GACCTCCATGCGGCCAACATA	0.522												
ASH2L	9070	broad.mit.edu	37	8	37986395	37986395	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:37986395G>A	uc003xkt.3	+	12	1511	c.1453G>A	c.(1453-1455)GTC>ATC	p.V485I	ASH2L_uc011lbk.1_Missense_Mutation_p.V346I|ASH2L_uc003xku.3_Missense_Mutation_p.V391I|ASH2L_uc010lwa.2_Missense_Mutation_p.V391I	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN	ash2-like isoform a	485	B30.2/SPRY.				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				ACAGGGAGACGTCCTGGGATT	0.443												
LETM2	137994	broad.mit.edu	37	8	38257862	38257862	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:38257862A>T	uc003xlm.1	+	5	748	c.577A>T	c.(577-579)ATG>TTG	p.M193L	LETM2_uc011lbn.1_Missense_Mutation_p.M37L|LETM2_uc003xll.1_Missense_Mutation_p.M145L|LETM2_uc003xln.1_Missense_Mutation_p.M37L|LETM2_uc003xlo.1_Missense_Mutation_p.M37L	NM_144652	NP_653253	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane	240	LETM1.|Mitochondrial matrix (Potential).					integral to membrane|mitochondrial inner membrane					0	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			CATGACAGAAATGGCAAGGAG	0.408												
FGFR1	2260	broad.mit.edu	37	8	38271463	38271463	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:38271463G>A	uc003xlp.2	-	18	3207	c.2265C>T	c.(2263-2265)GAC>GAT	p.D755D	FGFR1_uc010lwf.2_RNA|FGFR1_uc011lbo.1_Silent_p.D753D|FGFR1_uc011lbp.1_Silent_p.D666D|FGFR1_uc011lbq.1_Silent_p.D664D|FGFR1_uc010lwk.2_Silent_p.D745D	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	755	Cytoplasmic (Potential).|Protein kinase.			D->V: Abolishes interaction with PLCG1.	axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CCACGATGCGGTCCAGGTCTT	0.632		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome					
TACC1	6867	broad.mit.edu	37	8	38684796	38684796	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:38684796C>T	uc010lwp.2	+	5	1942	c.1563C>T	c.(1561-1563)GCC>GCT	p.A521A	TACC1_uc011lby.1_Silent_p.A326A|TACC1_uc003xma.2_5'UTR|TACC1_uc003xlz.2_Silent_p.A326A|TACC1_uc003xmc.3_Silent_p.A325A|TACC1_uc011lbz.1_Silent_p.A537A|TACC1_uc003xmb.3_Silent_p.A476A|TACC1_uc003xme.1_Silent_p.A95A|TACC1_uc003xmd.1_Silent_p.A83A|TACC1_uc010lwo.1_Silent_p.A83A|TACC1_uc003xmf.3_Silent_p.A111A|TACC1_uc011lca.1_Silent_p.A533A|TACC1_uc011lcb.1_Silent_p.A326A|TACC1_uc011lcc.1_Silent_p.A326A|TACC1_uc011lcd.1_RNA|TACC1_uc003xmh.3_Silent_p.A338A|TACC1_uc010lwq.2_Silent_p.A338A	NM_006283	NP_006274	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing	521					cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			ovary(1)	1		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CAGCTGGTGCCGAGGTGAAAG	0.468												
SLC20A2	6575	broad.mit.edu	37	8	42302235	42302235	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:42302235A>G	uc010lxl.2	-	6	1353	c.659T>C	c.(658-660)TTT>TCT	p.F220S	SLC20A2_uc010lxm.2_Missense_Mutation_p.F220S|SLC20A2_uc003xpe.2_Missense_Mutation_p.F220S|SLC20A2_uc011lcu.1_Missense_Mutation_p.F22S	NM_006749	NP_006740	Q08357	S20A2_HUMAN	solute carrier family 20, member 2	220	Helical; (Potential).				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			ovary(2)	2	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GGCGACACCAAAGGAAATGAG	0.493												
CHRNB3	1142	broad.mit.edu	37	8	42587314	42587314	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:42587314G>A	uc003xpi.1	+	5	992	c.864G>A	c.(862-864)TCG>TCA	p.S288S		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta	288					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)	1	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TCATCCCATCGTCTTCCAAAG	0.398												
RNF170	81790	broad.mit.edu	37	8	42725159	42725159	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:42725159G>A	uc003xpo.2	-	4	787	c.310C>T	c.(310-312)CAT>TAT	p.H104Y	RNF170_uc011lcx.1_Missense_Mutation_p.H104Y|RNF170_uc010lxp.2_Missense_Mutation_p.H20Y|RNF170_uc003xpm.2_Missense_Mutation_p.H104Y|RNF170_uc003xpp.2_Silent_p.D32D|RNF170_uc003xpn.2_Silent_p.D32D|RNF170_uc003xpq.3_Missense_Mutation_p.H104Y	NM_001160223	NP_001153695	Q96K19	RN170_HUMAN	ring finger protein 170 isoform a	104	RING-type.					integral to membrane	zinc ion binding				0	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			CAAAAAAGATGTCCACAGTTG	0.478												
FNTA	2339	broad.mit.edu	37	8	42940419	42940419	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:42940419G>T	uc003xps.2	+	9	1182	c.1134G>T	c.(1132-1134)CAG>CAT	p.Q378H	FNTA_uc003xpt.2_Missense_Mutation_p.Q287H|FNTA_uc003xpu.2_Missense_Mutation_p.Q311H|FNTA_uc003xpv.2_RNA	NM_002027	NP_002018	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha isoform a	378					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			ovary(1)	1	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CAAATGTACAGCAATAACACC	0.403												
TOX	9760	broad.mit.edu	37	8	59750825	59750825	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:59750825G>T	uc003xtw.1	-	5	960	c.739C>A	c.(739-741)CCA>ACA	p.P247T		NM_014729	NP_055544	O94900	TOX_HUMAN	thymus high mobility group box protein TOX	247	Nuclear localization signal (Potential).					nucleus	DNA binding			kidney(2)|lung(1)|skin(1)	4		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GGAGTTTTTGGTTTTTTCCCC	0.453												
BHLHE22	27319	broad.mit.edu	37	8	65494257	65494257	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:65494257C>T	uc003xvi.2	+	1	1444	c.910C>T	c.(910-912)CGG>TGG	p.R304W	LOC401463_uc003xvh.2_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix domain containing, class	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						GGAGGAGATGCGGCGCCTAGT	0.687												
RRS1	23212	broad.mit.edu	37	8	67342429	67342429	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:67342429G>T	uc003xwa.2	+	1	1167	c.1063G>T	c.(1063-1065)GGA>TGA	p.G355*	ADHFE1_uc003xwb.3_5'Flank|ADHFE1_uc003xwd.3_5'Flank|ADHFE1_uc003xwc.3_5'Flank|ADHFE1_uc003xwe.3_5'Flank|ADHFE1_uc003xwf.3_5'Flank|ADHFE1_uc011les.1_5'Flank|ADHFE1_uc011leq.1_5'Flank|ADHFE1_uc011ler.1_5'Flank	NM_015169	NP_055984	Q15050	RRS1_HUMAN	homolog of yeast ribosome biogenesis regulatory	355	Arg/Gly/Lys-rich.				mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus					0		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CAAGAGAAAAGGAGGACAGCG	0.537												
NCOA2	10499	broad.mit.edu	37	8	71069388	71069388	+	Silent	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:71069388G>T	uc003xyn.1	-	11	1374	c.1212C>A	c.(1210-1212)GCC>GCA	p.A404A		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	404					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GGGCCTGATGGGCAGGGCTGT	0.493			T	RUNXBP2	AML							
TRPA1	8989	broad.mit.edu	37	8	72950232	72950232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:72950232G>A	uc003xza.2	-	20	2546	c.2371C>T	c.(2371-2373)CAA>TAA	p.Q791*	uc011lff.1_Intron|uc003xyy.2_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	791	Helical; Name=2; (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	TGGAAAATTTGCCCCGCTTCT	0.274												
TRPA1	8989	broad.mit.edu	37	8	72969971	72969971	+	Silent	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:72969971T>C	uc003xza.2	-	9	1249	c.1074A>G	c.(1072-1074)GTA>GTG	p.V358V		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	358	Cytoplasmic (Potential).|ANK 9.					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	GTAGCAAATTTACAATATTCC	0.373												
ZFHX4	79776	broad.mit.edu	37	8	77768464	77768464	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:77768464G>A	uc003yav.2	+	10	9559	c.9172G>A	c.(9172-9174)GGC>AGC	p.G3058S	ZFHX4_uc003yau.1_Missense_Mutation_p.G3103S|ZFHX4_uc003yaw.1_Missense_Mutation_p.G3058S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3058	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CGGACTCCCCGGCCTTCCTCC	0.552										HNSCC(33;0.089)		
FAM164A	51101	broad.mit.edu	37	8	79609723	79609723	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:79609723G>A	uc003ybd.2	+	6	688	c.586G>A	c.(586-588)GCT>ACT	p.A196T		NM_016010	NP_057094	Q96GY0	F164A_HUMAN	hypothetical protein LOC51101	196										ovary(1)	1						GCCAAGTGGCGCTGGCAAAAC	0.403												
CA13	377677	broad.mit.edu	37	8	86171660	86171660	+	Silent	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:86171660T>C	uc003ydg.2	+	3	588	c.246T>C	c.(244-246)GGT>GGC	p.G82G	CA13_uc003ydf.1_RNA	NM_198584	NP_940986	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	82					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding				0						TTCTGCGTGGTGGTCCTCTCA	0.458												
PDP1	54704	broad.mit.edu	37	8	94934398	94934398	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:94934398G>A	uc003yge.2	+	2	380	c.111G>A	c.(109-111)TCG>TCA	p.S37S	PDP1_uc003ygf.2_Silent_p.S62S|PDP1_uc010max.2_Silent_p.S62S|PDP1_uc011lgm.1_Silent_p.S37S|PDP1_uc011lgn.1_Silent_p.S96S	NM_018444	NP_060914	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic	37					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						GTTCCTCATCGTACATTCCTC	0.473												
INTS8	55656	broad.mit.edu	37	8	95844297	95844297	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:95844297G>A	uc003yhb.2	+	6	774	c.648G>A	c.(646-648)ACG>ACA	p.T216T	INTS8_uc003yha.1_Silent_p.T216T|INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Silent_p.T43T	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	integrator complex subunit 8	216					snRNA processing	integrator complex	protein binding				0	Breast(36;1.05e-06)					ATGTCCATACGATGAGAACTC	0.373												
GDF6	392255	broad.mit.edu	37	8	97156959	97156959	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:97156959G>A	uc003yhp.2	-	2	1300	c.1200C>T	c.(1198-1200)CAC>CAT	p.H400H		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	400					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					GGATGATGGCGTGGTTGGTGG	0.617												
ZFPM2	23414	broad.mit.edu	37	8	106814404	106814404	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:106814404G>A	uc003ymd.2	+	8	2117	c.2094G>A	c.(2092-2094)CGG>CGA	p.R698R	ZFPM2_uc011lhs.1_Silent_p.R429R	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	698	C2HC-type 3.				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCTTCAGCCGGCACGAAACAT	0.483												
EIF3E	3646	broad.mit.edu	37	8	109241324	109241324	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:109241324C>T	uc003ymu.2	-	6	600	c.572G>A	c.(571-573)CGG>CAG	p.R191Q	EIF3E_uc003ymt.2_Missense_Mutation_p.R142Q|EIF3E_uc003ymv.2_Missense_Mutation_p.R98Q|EIF3E_uc010mci.1_Missense_Mutation_p.R191Q	NM_001568	NP_001559	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3,	191	Sufficient for interaction with TRIM27.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding			ovary(2)|kidney(1)	3			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			CTCTTTTAACCGTGTAAGGTC	0.393												
KCNV1	27012	broad.mit.edu	37	8	110986292	110986292	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:110986292G>A	uc003ynr.3	-	1	668	c.326C>T	c.(325-327)GCG>GTG	p.A109V	KCNV1_uc010mcw.2_Missense_Mutation_p.A109V	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	109	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			ATATCGGAACGCCTGCGAGCT	0.662												
DEPDC6	64798	broad.mit.edu	37	8	121021305	121021305	+	Missense_Mutation	SNP	G	G	A	rs147712866	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:121021305G>A	uc003yow.3	+	8	1221	c.1034G>A	c.(1033-1035)CGA>CAA	p.R345Q	DEPDC6_uc011lid.1_Missense_Mutation_p.R244Q	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	DEP domain containing 6	345	PDZ.				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding				0	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTTGTGGTGCGAGGAAGTAAG	0.517												
COL14A1	7373	broad.mit.edu	37	8	121256232	121256232	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:121256232G>A	uc003yox.2	+	20	2729	c.2464G>A	c.(2464-2466)GCT>ACT	p.A822T	COL14A1_uc003yoy.2_Missense_Mutation_p.A500T	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	822	Fibronectin type-III 6.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAGCGTCTCCGCTCCTGGAAA	0.463												
ZHX1	11244	broad.mit.edu	37	8	124267572	124267572	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:124267572G>A	uc003yqe.2	-	3	1045	c.615C>T	c.(613-615)GAC>GAT	p.D205D	C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Silent_p.D205D|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Silent_p.D205D	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	205					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CTTCAGGAACGTCCTCAACTG	0.348												
MTSS1	9788	broad.mit.edu	37	8	125597362	125597362	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:125597362C>T	uc003yrk.2	-	6	960	c.426G>A	c.(424-426)TCG>TCA	p.S142S	MTSS1_uc003yrj.2_Silent_p.S142S|MTSS1_uc003yrl.2_Silent_p.S142S	NM_014751	NP_055566	O43312	MTSS1_HUMAN	metastasis suppressor 1	142	IMD.|Potential.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			ovary(1)	1	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TCAGCGTATCCGAGGACTTCT	0.358												
MYC	4609	broad.mit.edu	37	8	128752802	128752802	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:128752802G>A	uc003ysi.2	+	3	1488	c.963G>A	c.(961-963)CAG>CAA	p.Q321Q		NM_002467	NP_002458	P01106	MYC_HUMAN	myc proto-oncogene protein	306					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(3)|ovary(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		CCACACATCAGCACAACTACG	0.567		3	A|T	IGK@|BCL5|BCL7A |BTG1|TRA@|IGH@	Burkitt lymphoma| amplified in other cancers|B-CLL							
ADCY8	114	broad.mit.edu	37	8	131916289	131916289	+	Splice_Site	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:131916289C>A	uc003ytd.3	-	7	1897	c.1641_splice	c.e7-1	p.G547_splice	ADCY8_uc010mds.2_Splice_Site_p.G547_splice	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8						activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GTGAATCCTCCTGTGTGTAGA	0.458										HNSCC(32;0.087)		
OC90	729330	broad.mit.edu	37	8	133053404	133053404	+	Splice_Site	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:133053404C>T	uc003ytg.2	-	4	297	c.297_splice	c.e4-1	p.S99_splice	OC90_uc011lix.1_Splice_Site_p.S115_splice	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	otoconin 90						lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			ovary(2)|skin(1)	3	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GAAGCAGCAGCTGTAGGAAGG	0.577												
TG	7038	broad.mit.edu	37	8	133885421	133885421	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:133885421A>G	uc003ytw.2	+	5	634	c.593A>G	c.(592-594)AAC>AGC	p.N198S		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	198	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AAATTTGTCAACACCACAGAC	0.527												
WISP1	8840	broad.mit.edu	37	8	134232915	134232915	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:134232915C>T	uc003yub.2	+	3	517	c.441C>T	c.(439-441)ATC>ATT	p.I147I	WISP1_uc003yuc.2_Intron|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	147	VWFC.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GCACGTGCATCGACGGCGCGG	0.662												
EIF2C2	27161	broad.mit.edu	37	8	141570558	141570558	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:141570558G>A	uc003yvn.2	-	5	610	c.570C>T	c.(568-570)AAC>AAT	p.N190N	EIF2C2_uc010men.2_Silent_p.N113N|EIF2C2_uc010meo.2_Silent_p.N190N	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	190					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			CGCCAAGAGGGTTAGAGCAGC	0.602												
PTK2	5747	broad.mit.edu	37	8	141762399	141762399	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:141762399G>A	uc003yvu.2	-	17	1579	c.1349C>T	c.(1348-1350)GCG>GTG	p.A450V	PTK2_uc003yvo.2_Missense_Mutation_p.A78V|PTK2_uc011ljq.1_Missense_Mutation_p.A145V|PTK2_uc003yvp.2_Missense_Mutation_p.A118V|PTK2_uc003yvq.2_5'UTR|PTK2_uc003yvr.2_Missense_Mutation_p.A390V|PTK2_uc003yvs.2_Missense_Mutation_p.A450V|PTK2_uc003yvt.2_Missense_Mutation_p.A472V|PTK2_uc003yvv.2_Missense_Mutation_p.A350V|PTK2_uc011ljr.1_Missense_Mutation_p.A450V	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	450	Protein kinase.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			AATTGCAACCGCCAAAGCTGG	0.373												
ZNF696	79943	broad.mit.edu	37	8	144378511	144378511	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:144378511G>A	uc003yxy.3	+	3	1075	c.666G>A	c.(664-666)TCG>TCA	p.S222S		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	222	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCCAGAGGTCGGACGCCGCCA	0.711												
NFKBIL2	4796	broad.mit.edu	37	8	145666115	145666115	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:145666115C>T	uc011llg.1	-	9	1165	c.1150G>A	c.(1150-1152)GGC>AGC	p.G384S		NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	384	TPR 8.				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			AGCACGTTGCCGCTGCGCAGC	0.637												
LRRC14	9684	broad.mit.edu	37	8	145746374	145746374	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:145746374A>G	uc003zdk.1	+	4	1140	c.994A>G	c.(994-996)AGC>GGC	p.S332G	LRRC14_uc003zdl.1_Missense_Mutation_p.S332G|LRRC14_uc003zdo.2_5'Flank	NM_014665	NP_055480	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	332											0	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCTGGCACGGAGCCCACATGC	0.627												
VLDLR	7436	broad.mit.edu	37	9	2646469	2646469	+	Silent	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:2646469T>C	uc003zhk.1	+	11	2017	c.1620T>C	c.(1618-1620)GCT>GCC	p.A540A	VLDLR_uc003zhl.1_Silent_p.A540A|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Silent_p.A499A	NM_003383	NP_003374	P98155	VLDLR_HUMAN	very low density lipoprotein receptor isoform a	540	LDL-receptor class B 3.|Extracellular (Potential).				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TTTCAGTAGCTACCCTAGATG	0.463												
SLC1A1	6505	broad.mit.edu	37	9	4576594	4576594	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:4576594C>T	uc003zij.1	+	10	1260	c.1024C>T	c.(1024-1026)CGC>TGC	p.R342C	C9orf68_uc003zik.2_Intron	NM_004170	NP_004161	P43005	EAA3_HUMAN	solute carrier family 1, member 1	342					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity				0		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	TGTCACCTTCCGCTGTGCTGA	0.473												
JAK2	3717	broad.mit.edu	37	9	5080260	5080260	+	Silent	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:5080260T>C	uc010mhm.2	+	16	2276	c.2163T>C	c.(2161-2163)CCT>CCC	p.P721P	JAK2_uc003ziw.2_Silent_p.P721P	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	721	Protein kinase 1.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		GGGTACCACCTGAATGCATTG	0.343		1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial			
PTPRD	5789	broad.mit.edu	37	9	8521488	8521488	+	Silent	SNP	G	G	A	rs147417729	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:8521488G>A	uc003zkk.2	-	19	1461	c.750C>T	c.(748-750)GGC>GGT	p.G250G	PTPRD_uc003zkp.2_Silent_p.G250G|PTPRD_uc003zkq.2_Silent_p.G250G|PTPRD_uc003zkr.2_Silent_p.G244G|PTPRD_uc003zks.2_Silent_p.G240G|PTPRD_uc003zkl.2_Silent_p.G250G|PTPRD_uc003zkm.2_Silent_p.G237G|PTPRD_uc003zkn.2_Silent_p.G250G|PTPRD_uc003zko.2_Silent_p.G247G	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	250	Extracellular (Potential).|Ig-like C2-type 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TAACGCTTCCGCCTGGCATGA	0.468										TSP Lung(15;0.13)		
FREM1	158326	broad.mit.edu	37	9	14784441	14784441	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:14784441G>A	uc003zlm.2	-	24	4959	c.4369C>T	c.(4369-4371)CAA>TAA	p.Q1457*	FREM1_uc010mic.2_Intron	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	1457	CSPG 10.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		ACATCCATTTGGCTGAAGTTT	0.483												
FREM1	158326	broad.mit.edu	37	9	14842486	14842486	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:14842486C>T	uc003zlm.2	-	9	2156	c.1566G>A	c.(1564-1566)CCG>CCA	p.P522P	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	522	CSPG 3.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		TTATGAGGAACGGGGGACTAT	0.512												
BNC2	54796	broad.mit.edu	37	9	16437444	16437444	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:16437444G>A	uc003zml.2	-	6	888	c.748C>T	c.(748-750)CGG>TGG	p.R250W	BNC2_uc011lmw.1_Missense_Mutation_p.R155W|BNC2_uc003zmm.2_Missense_Mutation_p.R208W|BNC2_uc003zmq.1_Missense_Mutation_p.R264W|BNC2_uc003zmr.1_Missense_Mutation_p.R287W|BNC2_uc003zmp.1_Missense_Mutation_p.R278W|BNC2_uc010mij.1_Missense_Mutation_p.R172W|BNC2_uc011lmv.1_Missense_Mutation_p.R76W|BNC2_uc003zmo.1_Missense_Mutation_p.R172W|BNC2_uc003zmj.2_Missense_Mutation_p.R15W|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.R15W|BNC2_uc003zmn.1_Missense_Mutation_p.R15W	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		TCTCCAAACCGCAGAAACTGC	0.502												
CNTLN	54875	broad.mit.edu	37	9	17330768	17330768	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:17330768C>T	uc003zmz.2	+	9	1506	c.1480C>T	c.(1480-1482)CGA>TGA	p.R494*	CNTLN_uc003zmy.2_Nonsense_Mutation_p.R494*|CNTLN_uc010mio.2_Nonsense_Mutation_p.R173*	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	494						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		GGGTTTCTCCCGAAAGAGCAT	0.383												
SLC24A2	25769	broad.mit.edu	37	9	19516289	19516289	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:19516289G>A	uc003zoa.1	-	10	1910	c.1848C>T	c.(1846-1848)TTC>TTT	p.F616F	SLC24A2_uc003zob.1_Silent_p.F599F	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	solute carrier family 24	616	Helical; (Potential).				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(3)	3				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		AGAGGATGACGAAGAGCAGCA	0.522												
IFNB1	3456	broad.mit.edu	37	9	21077644	21077644	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:21077644G>A	uc003zok.2	-	1	300	c.225C>T	c.(223-225)GAC>GAT	p.D75D		NM_002176	NP_002167	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast precursor	75					activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			ovary(1)|breast(1)|kidney(1)	3				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	TCAATGCGGCGTCCTCCTTCT	0.468												
IFNA4	3441	broad.mit.edu	37	9	21187385	21187385	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:21187385T>G	uc003zon.2	-	1	214	c.146A>C	c.(145-147)CAT>CCT	p.H49P		NM_021068	NP_066546	P05014	IFNA4_HUMAN	interferon, alpha 4 precursor	49					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GCAGGAGAAATGAGAGATTCT	0.517												
IFNA13	3447	broad.mit.edu	37	9	21367439	21367439	+	Nonstop_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:21367439A>G	uc003zpa.2	-	1	637	c.571T>C	c.(571-573)TAA>CAA	p.*191Q		NM_006900	NP_008831	P01562	IFNA1_HUMAN	interferon, alpha 13 precursor	191					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			ovary(1)	1				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		ACCAGGTGTTATTCCTTCCTC	0.403												
VCP	7415	broad.mit.edu	37	9	35059794	35059794	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:35059794C>T	uc003zvy.2	-	14	2089	c.1700G>A	c.(1699-1701)CGC>CAC	p.R567H	VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_Missense_Mutation_p.R236H|VCP_uc010mki.1_Missense_Mutation_p.R522H	NM_007126	NP_009057	P55072	TERA_HUMAN	valosin-containing protein	567					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)			GGCAGCTTGGCGGGCCTGTAG	0.413												
TLN1	7094	broad.mit.edu	37	9	35720844	35720844	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:35720844G>A	uc003zxt.2	-	11	1525	c.1171C>T	c.(1171-1173)CTC>TTC	p.L391F		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	391	FERM.|Interaction with LAYN (By similarity).				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCGGCAATGAGCTGTGCAATC	0.512												
NPR2	4882	broad.mit.edu	37	9	35792815	35792815	+	Missense_Mutation	SNP	G	G	A	rs115064396	by1000genomes	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:35792815G>A	uc003zyd.2	+	1	410	c.410G>A	c.(409-411)CGT>CAT	p.R137H	NPR2_uc010mlb.2_Missense_Mutation_p.R137H	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	137	Extracellular (Potential).				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			ovary(2)|stomach(1)	3	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GACCATTATCGTACCCTGGTT	0.602												
CCIN	881	broad.mit.edu	37	9	36170020	36170020	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:36170020G>A	uc003zzb.3	+	1	632	c.521G>A	c.(520-522)CGC>CAC	p.R174H		NM_005893	NP_005884	Q13939	CALI_HUMAN	calicin	174	BACK.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			ovary(1)|skin(1)	2			STAD - Stomach adenocarcinoma(86;0.228)			CACTTCATGCGCTGTCCACCT	0.532												
SMC5	23137	broad.mit.edu	37	9	72962062	72962062	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:72962062G>A	uc004ahr.2	+	20	2766	c.2649G>A	c.(2647-2649)ACG>ACA	p.T883T	SMC5_uc011lry.1_Silent_p.T28T	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein	883					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3						CCTGCTTCACGGGACTGAATC	0.438												
AGTPBP1	23287	broad.mit.edu	37	9	88203240	88203240	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:88203240A>G	uc011ltd.1	-	20	2909	c.2876T>C	c.(2875-2877)TTA>TCA	p.L959S	AGTPBP1_uc004aod.3_Missense_Mutation_p.L585S|AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Missense_Mutation_p.L919S|AGTPBP1_uc011lte.1_Missense_Mutation_p.L971S	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	959					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(4)|large_intestine(2)|skin(1)	7						ATCTGGATTTAACATAGGGAC	0.348												
AGTPBP1	23287	broad.mit.edu	37	9	88287483	88287483	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:88287483G>A	uc011ltd.1	-	6	583	c.550C>T	c.(550-552)CGA>TGA	p.R184*	AGTPBP1_uc011ltc.1_Intron|AGTPBP1_uc010mqc.2_Nonsense_Mutation_p.R184*|AGTPBP1_uc011lte.1_Nonsense_Mutation_p.R236*	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	184					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(4)|large_intestine(2)|skin(1)	7						GAATATACTCGTAAAAGCTGA	0.363												
IARS	3376	broad.mit.edu	37	9	95030531	95030531	+	Silent	SNP	T	T	C	rs144681367	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:95030531T>C	uc004art.1	-	14	1613	c.1356A>G	c.(1354-1356)GCA>GCG	p.A452A	IARS_uc004ars.1_Silent_p.A297A|IARS_uc004aru.3_Silent_p.A452A|IARS_uc010mqr.2_Silent_p.A342A|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucine tRNA synthetase	452					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)|skin(1)	2					L-Isoleucine(DB00167)	TCCAGTCACGTGCATCTTTCA	0.443												
PTCH1	5727	broad.mit.edu	37	9	98241295	98241295	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:98241295C>A	uc004avk.3	-	8	1390	c.1202G>T	c.(1201-1203)AGG>ATG	p.R401M	PTCH1_uc010mro.2_Missense_Mutation_p.R250M|PTCH1_uc010mrp.2_Missense_Mutation_p.R250M|PTCH1_uc010mrq.2_Missense_Mutation_p.R250M|PTCH1_uc004avl.3_Missense_Mutation_p.R250M|PTCH1_uc010mrr.2_Missense_Mutation_p.R335M|PTCH1_uc004avm.3_Missense_Mutation_p.R400M|PTCH1_uc010mrs.1_Missense_Mutation_p.R121M	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	401	Extracellular (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CACATATGTCCTCTGCCAGGC	0.478									Basal_Cell_Nevus_syndrome			
HABP4	22927	broad.mit.edu	37	9	99220669	99220669	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:99220669C>T	uc010msg.2	+	2	506	c.358C>T	c.(358-360)CGG>TGG	p.R120W	HABP4_uc010msh.2_Missense_Mutation_p.R120W	NM_014282	NP_055097	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	120					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				AGGCCAGAAGCGGACTCCTAG	0.493												
COL15A1	1306	broad.mit.edu	37	9	101824544	101824544	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:101824544C>T	uc004azb.1	+	38	3755	c.3549C>T	c.(3547-3549)CCC>CCT	p.P1183P		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	1183	Nonhelical region 10 (NC10).			Missing (in Ref. 2; AAC78500).	angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				AACTGATCCCCATTCCTGCCG	0.438												
TMEM38B	55151	broad.mit.edu	37	9	108536306	108536306	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:108536306C>T	uc004bcu.1	+	6	938	c.821C>T	c.(820-822)CCG>CTG	p.P274L	TMEM38B_uc010mtn.1_3'UTR	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	274	Cytoplasmic (Potential).					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			ovary(1)|skin(1)	2						GCCTCAAAGCCGGTAGATGTT	0.393												
PTPN3	5774	broad.mit.edu	37	9	112199206	112199206	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:112199206G>A	uc004bed.2	-	9	744	c.632C>T	c.(631-633)GCG>GTG	p.A211V	PTPN3_uc004beb.2_Missense_Mutation_p.A80V|PTPN3_uc004bec.2_Missense_Mutation_p.A80V|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.A211V|PTPN3_uc011lwh.1_Missense_Mutation_p.A102V	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	211	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3						GAGGGTCCGCGCTATGTTGAT	0.398												
SVEP1	79987	broad.mit.edu	37	9	113148241	113148241	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:113148241C>A	uc010mtz.2	-	43	10511	c.10174G>T	c.(10174-10176)GGC>TGC	p.G3392C	SVEP1_uc010mty.2_Missense_Mutation_p.G1318C	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	3392	Sushi 33.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						ATGCCGTGGCCCTGCAGCAGA	0.493												
C9orf43	257169	broad.mit.edu	37	9	116188008	116188008	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:116188008A>G	uc004bho.3	+	11	1424	c.1028A>G	c.(1027-1029)TAT>TGT	p.Y343C	C9orf43_uc004bhp.2_Missense_Mutation_p.Y343C	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN	hypothetical protein LOC257169	343											0						GACCGTCTCTATGGTAAGGGG	0.473												
COL27A1	85301	broad.mit.edu	37	9	116999956	116999956	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:116999956C>G	uc011lxl.1	+	19	2688	c.2688C>G	c.(2686-2688)GAC>GAG	p.D896E	COL27A1_uc004bii.2_RNA	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	896	Collagen-like 5.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						AAGTCGGAGACAAAGGATCCA	0.602												
PAPPA	5069	broad.mit.edu	37	9	118950298	118950298	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:118950298G>A	uc004bjn.2	+	2	1662	c.1281G>A	c.(1279-1281)GAG>GAA	p.E427E	PAPPA_uc011lxp.1_Silent_p.E220E|PAPPA_uc011lxq.1_Silent_p.E220E	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	427	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						GTGACCCCGAGTGCAACCACA	0.627												
ASTN2	23245	broad.mit.edu	37	9	119858335	119858335	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:119858335G>T	uc004bjs.1	-	5	1365	c.1264C>A	c.(1264-1266)CGC>AGC	p.R422S	ASTN2_uc004bjr.1_Missense_Mutation_p.R422S|ASTN2_uc004bjt.1_Missense_Mutation_p.R371S	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	422	Cytoplasmic (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						TTGCTGCGGCGGCGACTGCGG	0.502												
ASTN2	23245	broad.mit.edu	37	9	120176844	120176844	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:120176844T>C	uc004bjs.1	-	1	474	c.373A>G	c.(373-375)AAC>GAC	p.N125D	ASTN2_uc004bjr.1_Missense_Mutation_p.N125D|ASTN2_uc004bjt.1_Missense_Mutation_p.N125D	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	125	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						GGCAGCTCGTTACGCACAAAG	0.642												
TLR4	7099	broad.mit.edu	37	9	120474741	120474741	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:120474741A>G	uc004bjz.2	+	3	626	c.335A>G	c.(334-336)AAC>AGC	p.N112S	TLR4_uc004bka.2_Missense_Mutation_p.N72S|TLR4_uc004bkb.2_5'UTR	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	112	LRR 3.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						TTGACAGGAAACCCCATCCAG	0.443												
CDK5RAP2	55755	broad.mit.edu	37	9	123171411	123171411	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:123171411A>G	uc004bkf.2	-	30	4779	c.4598T>C	c.(4597-4599)CTG>CCG	p.L1533P	CDK5RAP2_uc010mvi.2_Missense_Mutation_p.L542P|CDK5RAP2_uc004bke.2_Missense_Mutation_p.L818P|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.L1533P|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.L798P|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.L798P|CDK5RAP2_uc011lya.1_Missense_Mutation_p.L798P|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.L1303P|CDK5RAP2_uc004bki.2_Missense_Mutation_p.L1300P	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1533					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						CTACCTGCTCAGCTCCTGGCC	0.602												
CDK5RAP2	55755	broad.mit.edu	37	9	123222895	123222895	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:123222895G>A	uc004bkf.2	-	19	2338	c.2157C>T	c.(2155-2157)GAC>GAT	p.D719D	CDK5RAP2_uc004bke.2_Intron|CDK5RAP2_uc004bkg.2_Silent_p.D719D|CDK5RAP2_uc011lxw.1_Translation_Start_Site|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Translation_Start_Site|CDK5RAP2_uc011lya.1_Translation_Start_Site|CDK5RAP2_uc004bkh.1_Intron|CDK5RAP2_uc004bki.2_Intron	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	719					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						AATTAATCTCGTCATCCTCCC	0.443												
TTLL11	158135	broad.mit.edu	37	9	124751596	124751596	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:124751596T>C	uc004blt.1	-	4	1605	c.1417A>G	c.(1417-1419)AAG>GAG	p.K473E	TTLL11_uc011lyl.1_Missense_Mutation_p.K473E|TTLL11_uc004blr.2_RNA|TTLL11_uc011lym.1_Missense_Mutation_p.K150E|TTLL11_uc004blu.1_3'UTR	NM_194252	NP_919228	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	473	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity				0						CAGACCTTCTTGATGTCAACG	0.522												
PTGS1	5742	broad.mit.edu	37	9	125145862	125145862	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:125145862G>A	uc004bmg.1	+	8	972	c.837G>A	c.(835-837)CCG>CCA	p.P279P	PTGS1_uc011lys.1_Silent_p.P254P|PTGS1_uc010mwb.1_Silent_p.P170P|PTGS1_uc004bmf.1_Silent_p.P279P|PTGS1_uc004bmh.1_Silent_p.P170P|PTGS1_uc011lyt.1_Silent_p.P170P	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	279					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)	GAGGCATCCCGCCCCAGAGCC	0.627												
RC3H2	54542	broad.mit.edu	37	9	125621307	125621307	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:125621307C>T	uc010mwc.1	-	12	2165	c.1924G>A	c.(1924-1926)GTT>ATT	p.V642I	RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Missense_Mutation_p.V642I|RC3H2_uc004bne.3_Missense_Mutation_p.V642I	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type zinc finger domains 2	642	Pro-rich.					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			ovary(2)|lung(2)	4						GACTCTGGAACGTTATTGGAC	0.488												
GPR21	2844	broad.mit.edu	37	9	125797387	125797387	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:125797387G>A	uc011lzk.1	+	1	542	c.542G>A	c.(541-543)TGT>TAT	p.C181Y	RABGAP1_uc004bnl.3_Intron|RABGAP1_uc011lzh.1_Intron|RABGAP1_uc011lzj.1_Intron|GPR21_uc011lzi.1_RNA	NM_005294	NP_005285	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	181	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1						TTTCAGTGGTGTGCGGAGTCC	0.488												
CRB2	286204	broad.mit.edu	37	9	126133051	126133051	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:126133051C>T	uc004bnx.1	+	7	1811	c.1719C>T	c.(1717-1719)GAC>GAT	p.D573D	CRB2_uc004bnw.1_Silent_p.D573D	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	573	Extracellular (Potential).|Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						AGCTGGGGGACGCGACCTTTG	0.687												
CRB2	286204	broad.mit.edu	37	9	126135794	126135794	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:126135794T>C	uc004bnx.1	+	10	3076	c.2984T>C	c.(2983-2985)TTC>TCC	p.F995S	CRB2_uc004bnw.1_Missense_Mutation_p.F995S	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	995	Extracellular (Potential).|Laminin G-like 3.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						GACCTGGGCTTCCTGCAGGGC	0.721												
NR5A1	2516	broad.mit.edu	37	9	127255348	127255348	+	Silent	SNP	G	G	A	rs147024762		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:127255348G>A	uc004boo.1	-	5	1138	c.951C>T	c.(949-951)CAC>CAT	p.H317H		NM_004959	NP_004950	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	317	Important for dimerization.|Ligand-binding.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding				0						CCTCCTTGCCGTGCTGGACCT	0.687												
PBX3	5090	broad.mit.edu	37	9	128723070	128723070	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:128723070C>T	uc004bqb.2	+	6	1067	c.951C>T	c.(949-951)CAC>CAT	p.H317H	PBX3_uc004bqc.2_Silent_p.H136H|PBX3_uc004bqd.2_Silent_p.H136H|PBX3_uc011lzw.1_Silent_p.H242H|PBX3_uc011lzx.1_Silent_p.H228H|PBX3_uc004bqe.2_Silent_p.H225H	NM_006195	NP_006186	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3 isoform 1	317					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1						CAGCTGCACACGCAGTAGCAG	0.547												
GLE1	2733	broad.mit.edu	37	9	131285932	131285932	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:131285932G>A	uc004bvj.2	+	6	818	c.704G>A	c.(703-705)CGG>CAG	p.R235Q	GLE1_uc004bvi.2_Missense_Mutation_p.R235Q|GLE1_uc010myd.2_5'UTR	NM_001003722	NP_001003722	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator homolog isoform 1	235	Potential.				poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding				0						GAACAGGAGCGGCTTCGGAAG	0.592												
SPTAN1	6709	broad.mit.edu	37	9	131371238	131371238	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:131371238G>A	uc004bvl.3	+	35	4690	c.4577G>A	c.(4576-4578)CGC>CAC	p.R1526H	SPTAN1_uc004bvm.3_Missense_Mutation_p.R1526H|SPTAN1_uc004bvn.3_Missense_Mutation_p.R1506H	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1526	Spectrin 16.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						TCTAGCCGGCGCAATGAGGTC	0.557												
C9orf50	375759	broad.mit.edu	37	9	132375517	132375517	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:132375517T>A	uc004byc.3	-	6	1259	c.1057A>T	c.(1057-1059)ACA>TCA	p.T353S	C9orf50_uc004byb.3_RNA	NM_199350	NP_955382	Q5SZB4	CI050_HUMAN	hypothetical protein LOC375759	353										ovary(1)|central_nervous_system(1)	2		Ovarian(14;0.00556)				TAGCCCTGTGTCTTCTGGGTG	0.637												
ASS1	445	broad.mit.edu	37	9	133355186	133355186	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:133355186G>A	uc004bzm.2	+	11	1128	c.772G>A	c.(772-774)GCG>ACG	p.A258T	ASS1_uc004bzn.2_Missense_Mutation_p.A258T|ASS1_uc010mza.2_Missense_Mutation_p.A334T|ASS1_uc004bzo.2_Missense_Mutation_p.A239T|ASS1_uc010mzb.2_Missense_Mutation_p.A296T|ASS1_uc004bzp.2_Missense_Mutation_p.A258T|ASS1_uc010mzc.2_Missense_Mutation_p.A258T	NM_000050	NP_000041	P00966	ASSY_HUMAN	argininosuccinate synthetase 1	258					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GAACGAAGTCGCGTGAGTGTC	0.617												
BAT2L1	84726	broad.mit.edu	37	9	134357808	134357808	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:134357808G>C	uc004can.3	+	20	5089	c.5034G>C	c.(5032-5034)GAG>GAC	p.E1678D	BAT2L1_uc004cao.3_Missense_Mutation_p.E1035D|BAT2L1_uc004cap.3_5'Flank	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	1678							protein binding				0						TGAGTGCCGAGTCTCGGGAGT	0.587												
GTF3C5	9328	broad.mit.edu	37	9	135919198	135919198	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:135919198C>T	uc004cci.3	+	3	794	c.457C>T	c.(457-459)CGG>TGG	p.R153W	GTF3C5_uc010mzz.2_Missense_Mutation_p.R28W|GTF3C5_uc004ccj.3_Missense_Mutation_p.R153W	NM_012087	NP_036219	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5	153						transcription factor TFIIIC complex	DNA binding|protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GCTCATGCTCCGGCCCGAGAA	0.587												
ADAMTS13	11093	broad.mit.edu	37	9	136321690	136321690	+	Silent	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:136321690G>A	uc004cdv.3	+	27	4185	c.3741G>A	c.(3739-3741)CGG>CGA	p.R1247R	ADAMTS13_uc004cdp.3_Silent_p.R418R|ADAMTS13_uc004cdt.1_Silent_p.R1191R|ADAMTS13_uc004cdu.1_Silent_p.R1160R|ADAMTS13_uc004cdw.3_Silent_p.R1191R|ADAMTS13_uc004cdx.3_Silent_p.R1160R|ADAMTS13_uc004cdz.3_Silent_p.R917R|ADAMTS13_uc004cea.1_Silent_p.R43R|ADAMTS13_uc004ceb.3_Silent_p.R43R	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1247	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)		TTTGGGGCCGGCTCACCTGGA	0.557												
DBH	1621	broad.mit.edu	37	9	136501526	136501526	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:136501526C>T	uc004cel.2	+	1	42	c.33C>T	c.(31-33)CCC>CCT	p.P11P		NM_000787	NP_000778	P09172	DOPO_HUMAN	dopamine beta hydroxylase precursor	11	Cytoplasmic (Potential).				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CCAGCCTGCCCGGCCCCAGCA	0.672												
FCN2	2220	broad.mit.edu	37	9	137779089	137779089	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:137779089G>T	uc004cfg.1	+	8	780	c.770G>T	c.(769-771)TGT>TTT	p.C257F	FCN2_uc004cfh.1_Missense_Mutation_p.C219F	NM_004108	NP_004099	Q15485	FCN2_HUMAN	ficolin 2 isoform a precursor	257	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			large_intestine(1)	1		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		ACCGGAAATTGTGCTGTGATG	0.498												
KIAA0649	9858	broad.mit.edu	37	9	138376418	138376418	+	Missense_Mutation	SNP	C	C	T	rs150799430		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:138376418C>T	uc004cfr.1	+	4	611	c.62C>T	c.(61-63)CCG>CTG	p.P21L		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	21						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)		GCCTTTGGCCCGCCAGGGAGC	0.627												
FAM69B	138311	broad.mit.edu	37	9	139617653	139617653	+	Silent	SNP	G	G	A	rs148678023	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:139617653G>A	uc004cik.2	+	5	817	c.723G>A	c.(721-723)GCG>GCA	p.A241A	FAM69B_uc004cil.2_Silent_p.A154A|SNHG7_uc004cim.2_Intron	NM_152421	NP_689634	Q5VUD6	FA69B_HUMAN	hypothetical protein LOC138311	241	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		CCTGGCACGCGGCCGCCCTTC	0.706												
PNPLA7	375775	broad.mit.edu	37	9	140438216	140438216	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:140438216G>A	uc004cnf.2	-	4	587	c.250C>T	c.(250-252)CGG>TGG	p.R84W	PNPLA7_uc010ncj.1_Missense_Mutation_p.R109W	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	84					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)		TTCCTGGCCCGCTGCCGGGGC	0.637												
CACNA1B	774	broad.mit.edu	37	9	140846745	140846745	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:140846745A>G	uc004cog.2	+	7	1131	c.986A>G	c.(985-987)AAC>AGC	p.N329S		NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	329	I.|Extracellular (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GCGGCCGGCAACACCTGGAAC	0.592												
PLCXD1	55344	broad.mit.edu	37	X	215873	215873	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:215873C>T	uc004cpc.2	+	7	1155	c.843C>T	c.(841-843)AGC>AGT	p.S281S	PLCXD1_uc011mgx.1_RNA	NM_018390	NP_060860	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X	281					intracellular signal transduction|lipid metabolic process		phospholipase C activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGCGGCTGAGCGCGTGGGTCC	0.657												
SHROOM2	357	broad.mit.edu	37	X	9862480	9862480	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:9862480G>A	uc004csu.1	+	4	622	c.532G>A	c.(532-534)GTT>ATT	p.V178I		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	178					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8		Hepatocellular(5;0.000888)				CTTGGGGAGCGTTGACAGCCT	0.602												
CLCN4	1183	broad.mit.edu	37	X	10166025	10166025	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:10166025C>T	uc004csy.3	+	6	909	c.479C>T	c.(478-480)GCG>GTG	p.A160V	CLCN4_uc011mid.1_Missense_Mutation_p.A66V	NM_001830	NP_001821	P51793	CLCN4_HUMAN	chloride channel 4	160	Helical; (By similarity).					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						ATCCTATGGGCGCTGCTGTTT	0.468												
MID1	4281	broad.mit.edu	37	X	10437743	10437743	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:10437743C>T	uc004cte.3	-	7	1470	c.1279G>A	c.(1279-1281)GTC>ATC	p.V427I	MID1_uc004ctd.3_Missense_Mutation_p.V138I|MID1_uc004ctg.3_Missense_Mutation_p.V427I|MID1_uc004cth.3_Missense_Mutation_p.V389I|MID1_uc004ctk.3_Missense_Mutation_p.V427I|MID1_uc004cti.3_Missense_Mutation_p.V427I|MID1_uc004ctj.3_Missense_Mutation_p.V427I|MID1_uc011mie.1_RNA|MID1_uc004ctm.1_Missense_Mutation_p.V478I|MID1_uc004ctn.1_Missense_Mutation_p.V427I|MID1_uc004cto.1_Missense_Mutation_p.V389I|MID1_uc004csz.3_Missense_Mutation_p.V99I|MID1_uc004cta.3_Missense_Mutation_p.V183I|MID1_uc004ctb.3_Missense_Mutation_p.V87I|MID1_uc004ctc.3_Missense_Mutation_p.V194I|MID1_uc004ctl.1_Missense_Mutation_p.V183I	NM_033290	NP_150632	O15344	TRI18_HUMAN	midline 1	427	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						TCACTAACGACGTTGGCTTGT	0.443												
MOSPD2	158747	broad.mit.edu	37	X	14933801	14933801	+	Silent	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:14933801A>G	uc004cwi.2	+	12	1189	c.1101A>G	c.(1099-1101)ACA>ACG	p.T367T	MOSPD2_uc004cwj.2_Silent_p.T304T	NM_152581	NP_689794	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	367	MSP.					integral to membrane	structural molecule activity			lung(1)	1	Hepatocellular(33;0.183)					TGAGAACAACAGCTCCAGAAA	0.393												
USP9X	8239	broad.mit.edu	37	X	41027442	41027442	+	Silent	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:41027442T>C	uc004dfb.2	+	18	3240	c.2607T>C	c.(2605-2607)CAT>CAC	p.H869H	USP9X_uc004dfc.2_Silent_p.H869H	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	869					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						GTGATTATCATGAGGAAAGAA	0.333												
CFP	5199	broad.mit.edu	37	X	47485906	47485906	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:47485906C>T	uc004dig.3	-	7	1079	c.953G>A	c.(952-954)TGG>TAG	p.W318*	CFP_uc004dih.2_Nonsense_Mutation_p.W318*|CFP_uc004dii.1_Nonsense_Mutation_p.W254*|CFP_uc010nhu.2_Nonsense_Mutation_p.W318*	NM_001145252	NP_001138724	P27918	PROP_HUMAN	complement factor properdin precursor	318	TSP type-1 5.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(2)|lung(1)	3						CCACGAGTCCCACTCCCCATC	0.607												
FGD1	2245	broad.mit.edu	37	X	54473854	54473854	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:54473854T>C	uc004dtg.2	-	17	3204	c.2470A>G	c.(2470-2472)ATC>GTC	p.I824V		NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	824	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|skin(2)|central_nervous_system(1)	6						AAGCTGCAGATGACGCTGTTC	0.532												
ITIH5L	347365	broad.mit.edu	37	X	54776440	54776440	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:54776440C>T	uc004dtj.2	-	13	3860	c.3830G>A	c.(3829-3831)AGG>AAG	p.R1277K		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	1277					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6						CTTCAGCAGCCTCTTGCCTAG	0.612												
AWAT2	158835	broad.mit.edu	37	X	69261775	69261775	+	Silent	SNP	T	T	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:69261775T>A	uc004dxt.1	-	7	891	c.885A>T	c.(883-885)CCA>CCT	p.P295P		NM_001002254	NP_001002254	Q6E213	AWAT2_HUMAN	wax synthase 2	295						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity				0						TCTCCTGGCTTGGATTCTCAA	0.478												
P2RY4	5030	broad.mit.edu	37	X	69478728	69478728	+	Silent	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:69478728C>A	uc004dxz.1	-	1	927	c.747G>T	c.(745-747)GTG>GTT	p.V249V		NM_002565	NP_002556	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y4	249	Helical; Name=6; (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	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(1)	1						CAGTCAGCACCACAGCTATGG	0.562												
TAF1	6872	broad.mit.edu	37	X	70598812	70598812	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:70598812C>T	uc004dzu.3	+	8	1339	c.1288C>T	c.(1288-1290)CGT>TGT	p.R430C	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.R451C	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	430					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				AAAACCTCAGCGTGCAAGCCT	0.507												
TAF1	6872	broad.mit.edu	37	X	70618466	70618466	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:70618466G>A	uc004dzu.3	+	24	3713	c.3662G>A	c.(3661-3663)CGA>CAA	p.R1221Q	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.R1242Q|TAF1_uc004dzv.3_Missense_Mutation_p.R395Q	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	1221	HMG box.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				GAAGAGATGCGAAAAGAACGG	0.458												
COL4A5	1287	broad.mit.edu	37	X	107925066	107925066	+	Silent	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:107925066C>T	uc004enz.1	+	46	4366	c.4164C>T	c.(4162-4164)GGC>GGT	p.G1388G	COL4A5_uc011mso.1_Silent_p.G1385G|COL4A5_uc011msp.1_Silent_p.G64G	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	1382	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						GAATCCCTGGCCAGCCTGGGC	0.423									Alport_syndrome_with_Diffuse_Leiomyomatosis			
CHRDL1	91851	broad.mit.edu	37	X	109924819	109924819	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:109924819C>T	uc004eou.3	-	10	1396	c.1047G>A	c.(1045-1047)ATG>ATA	p.M349I	CHRDL1_uc004eov.2_Missense_Mutation_p.M338I|CHRDL1_uc004eow.2_Missense_Mutation_p.M347I|CHRDL1_uc010nps.2_Missense_Mutation_p.M348I|CHRDL1_uc004eot.2_Missense_Mutation_p.M268I|CHRDL1_uc011mss.1_Missense_Mutation_p.M263I	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	chordin-like 1 isoform 1 precursor	341					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region					0						CATACACAGGCATCGTTTCTT	0.453												
ALG13	79868	broad.mit.edu	37	X	110928333	110928333	+	Splice_Site	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:110928333T>C	uc011msy.1	+	3	417	c.383_splice	c.e3+2	p.R128_splice	ALG13_uc004epi.1_Splice_Site_p.S128_splice|ALG13_uc011msw.1_Splice_Site_p.R50_splice|ALG13_uc011msx.1_Splice_Site_p.R24_splice|ALG13_uc011msz.1_Splice_Site_p.R50_splice|ALG13_uc011mta.1_Splice_Site_p.R24_splice|ALG13_uc011mtb.1_Splice_Site_p.R24_splice			Q9NP73	ALG13_HUMAN	SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);						dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			lung(1)	1						TACCTGCAGGTATGCTAGAGA	0.423												
LUZP4	51213	broad.mit.edu	37	X	114541133	114541133	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:114541133G>T	uc004eqa.2	+	4	740	c.706G>T	c.(706-708)GGA>TGA	p.G236*	LUZP4_uc004eqb.2_Nonsense_Mutation_p.G154*	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	236						nucleus				ovary(2)	2						TCGTAGCCAGGGAGATCTTGT	0.483												
IL13RA1	3597	broad.mit.edu	37	X	117910472	117910472	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:117910472C>G	uc004eqs.2	+	10	1232	c.1189C>G	c.(1189-1191)CTG>GTG	p.L397V	IL13RA1_uc004eqt.1_Missense_Mutation_p.L397V	NM_001560	NP_001551	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1 precursor	397	Cytoplasmic (Potential).					interleukin-13 receptor complex	cytokine receptor activity				0						TGATGATACTCTGGTAAGAAC	0.279												
ZCCHC12	170261	broad.mit.edu	37	X	117959502	117959502	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:117959502C>T	uc004equ.2	+	4	768	c.295C>T	c.(295-297)CGT>TGT	p.R99C		NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			ovary(1)	1						cgaggtcatgcgtgtgcttca	0												
ANKRD58	347454	broad.mit.edu	37	X	118893547	118893547	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:118893547G>A	uc010nql.2	+	1	972	c.917G>A	c.(916-918)CGC>CAC	p.R306H		NM_001105576	NP_001099046	A6NJG2	ANR58_HUMAN	ankyrin repeat domain 58	306											0						AGCCTTTTCCGCCATCTGTTC	0.637												
STAG2	10735	broad.mit.edu	37	X	123205131	123205131	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:123205131G>A	uc004etz.3	+	24	2830	c.2491G>A	c.(2491-2493)GAT>AAT	p.D831N	STAG2_uc004eua.2_Missense_Mutation_p.D831N|STAG2_uc004eub.2_Missense_Mutation_p.D831N|STAG2_uc004euc.2_Missense_Mutation_p.D831N|STAG2_uc004eud.2_Missense_Mutation_p.D831N|STAG2_uc004eue.2_Missense_Mutation_p.D831N	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN	stromal antigen 2 isoform b	831					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(4)|skin(1)	5						CTTTATTTTGGATCATGTCTT	0.368												
ELF4	2000	broad.mit.edu	37	X	129215258	129215258	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:129215258C>A	uc004evd.3	-	2	432	c.47G>T	c.(46-48)AGC>ATC	p.S16I	ELF4_uc004eve.3_Missense_Mutation_p.S16I	NM_001421	NP_001412	Q99607	ELF4_HUMAN	E74-like factor 4	16					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						CATCCCGTTGCTTGCGAACTC	0.522			T	ERG	AML							
ZNF280C	55609	broad.mit.edu	37	X	129380891	129380891	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:129380891C>A	uc004evm.2	-	3	274	c.120G>T	c.(118-120)GAG>GAT	p.E40D	ZNF280C_uc010nrf.1_Missense_Mutation_p.E40D	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)	3						CATCGTCATCCTCATCCTGAG	0.368												
SAGE1	55511	broad.mit.edu	37	X	134989590	134989590	+	Silent	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:134989590G>T	uc004ezh.2	+	9	1163	c.996G>T	c.(994-996)CCG>CCT	p.P332P	SAGE1_uc010nry.1_Silent_p.P301P|SAGE1_uc011mvv.1_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	332										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					CTGGTATTCCGGGCATGAATA	0.393												
LDOC1	23641	broad.mit.edu	37	X	140271029	140271029	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:140271029C>T	uc004fbj.2	-	1	282	c.178G>A	c.(178-180)GAG>AAG	p.E60K		NM_012317	NP_036449	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	60					negative regulation of cell proliferation	nucleus	protein binding				0	Acute lymphoblastic leukemia(192;7.65e-05)					CGGGAGCTCTCGCCATTAAAC	0.612												
SLITRK4	139065	broad.mit.edu	37	X	142718541	142718541	+	Silent	SNP	A	A	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:142718541A>T	uc004fbx.2	-	2	760	c.384T>A	c.(382-384)CTT>CTA	p.L128L	SLITRK4_uc004fby.2_Silent_p.L128L	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	slit and trk like 4 protein precursor	128	Extracellular (Potential).|LRR 3.					integral to membrane				upper_aerodigestive_tract(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCTATGCCAAGGAAAGTGT	0.418												
AFF2	2334	broad.mit.edu	37	X	147891442	147891442	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:147891442C>T	uc004fcp.2	+	4	1563	c.1084C>T	c.(1084-1086)CGG>TGG	p.R362W	AFF2_uc004fco.2_Missense_Mutation_p.R358W|AFF2_uc004fcq.2_Missense_Mutation_p.R358W|AFF2_uc004fcr.2_Missense_Mutation_p.R358W|AFF2_uc011mxb.1_Missense_Mutation_p.R362W|AFF2_uc004fcs.2_Missense_Mutation_p.R358W|AFF2_uc011mxc.1_Missense_Mutation_p.R32W	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	362					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)					AGAAATCTTGCGGGTGAGTTT	0.333												
GPR50	9248	broad.mit.edu	37	X	150349428	150349428	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:150349428T>C	uc010ntg.1	+	2	1508	c.1373T>C	c.(1372-1374)GTC>GCC	p.V458A		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	458	Cytoplasmic (Potential).|Pro-rich.				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)					GGTGACTCTGTCCATTTCAAG	0.552												
GABRQ	55879	broad.mit.edu	37	X	151821314	151821314	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:151821314G>T	uc004ffp.1	+	9	1489	c.1469G>T	c.(1468-1470)GGC>GTC	p.G490V		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) receptor, theta	490						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGCCCATGGCCATGGTGTT	0.547												
PDZD4	57595	broad.mit.edu	37	X	153071027	153071027	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:153071027G>A	uc004fiz.1	-	6	834	c.584C>T	c.(583-585)GCG>GTG	p.A195V	PDZD4_uc004fiy.1_Missense_Mutation_p.A120V|PDZD4_uc004fix.2_Missense_Mutation_p.A99V|PDZD4_uc004fja.1_Missense_Mutation_p.A201V|PDZD4_uc011mze.1_Missense_Mutation_p.A86V	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	195	PDZ.					cell cortex				breast(1)	1	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GATGGCCACCGCCTCTTCCCG	0.632												
RPL10	6134	broad.mit.edu	37	X	153627879	153627879	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:153627879A>G	uc004fkm.2	+	4	322	c.134A>G	c.(133-135)GAG>GGG	p.E45G	uc010nuv.1_5'Flank|RPL10_uc004fko.2_Missense_Mutation_p.E45G|RPL10_uc004fkn.1_Missense_Mutation_p.E45G|RPL10_uc004fkp.1_Missense_Mutation_p.E45G|RPL10_uc004fkq.1_RNA|RPL10_uc004fkr.1_5'Flank|SNORA70_uc010nux.1_5'Flank	NM_006013	NP_006004	P27635	RL10_HUMAN	ribosomal protein L10	45					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAAGTGGATGAGTTTCCGCTT	0.522											OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SPRY3	10251	broad.mit.edu	37	X	155004072	155004072	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:155004072G>A	uc004fnq.1	+	2	993	c.539G>A	c.(538-540)AGC>AAC	p.S180N	SPRY3_uc010nvl.1_Intron	NM_005840	NP_005831	O43610	SPY3_HUMAN	sprouty homolog 3	180	SPR.|Cys-rich.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane					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)					TCTGCTGAGAGCCTCCTCGAT	0.582												
VAMP7	6845	broad.mit.edu	37	X	155169446	155169446	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:155169446A>G	uc004fnr.2	+	7	757	c.583A>G	c.(583-585)ATC>GTC	p.I195V	VAMP7_uc004fnt.2_Missense_Mutation_p.I154V|VAMP7_uc011naa.1_Missense_Mutation_p.I156V|VAMP7_uc011nab.1_Missense_Mutation_p.I94V|VAMP7_uc004fns.2_Missense_Mutation_p.H172R|VAMP7_uc011nac.1_Missense_Mutation_p.I128V	NM_005638	NP_005629	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7 isoform 1	195	Helical; Anchor for type IV membrane protein; (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)					TATCATCATCATCGTATCAAT	0.348												
NLGN4Y	22829	broad.mit.edu	37	Y	16942305	16942305	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrY:16942305G>A	uc004ftg.2	+	5	1759	c.1507G>A	c.(1507-1509)GGT>AGT	p.G503S	NLGN4Y_uc004fte.2_Missense_Mutation_p.G335S|NLGN4Y_uc011nas.1_Missense_Mutation_p.G523S|NLGN4Y_uc004ftf.2_Missense_Mutation_p.G196S|NLGN4Y_uc004fth.2_Missense_Mutation_p.G503S	NM_014893	NP_055708	Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked isoform 1	503	Extracellular (Potential).				brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity				0						CCCCATGATCGGTCCCACAGA	0.527												
CYorf15B	84663	broad.mit.edu	37	Y	21764105	21764105	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrY:21764105A>T	uc011nay.1	+	3	1207	c.130A>T	c.(130-132)ACA>TCA	p.T44S		NM_032576	NP_115965	Q9BZA4	CY15B_HUMAN	lipopolysaccaride-specific response 5-like	44	Potential.										0						TTCACAGCTGACAAAGAAAAT	0.333												
NMS	129521	broad.mit.edu	37	2	101090004	101090004	+	Splice_Site	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:101090003_101090003TA>T	uc002tan.1	+	3	190	c.183_splice	c.e3+2	p.K61_splice		NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN	Homo sapiens neuromedin S (NMS), mRNA.	61					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CAACCTAAGGTAAAAAAatgt	0.343												
FAM55C	91775	broad.mit.edu	37	3	101525973	101525973	+	Splice_Site	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:101525972_101525972TA>T	uc003dvn.3	+	6	1559	c.922_splice	c.e6+2	p.E308_splice	FAM55C_uc010hpn.3_Splice_Site_p.E308_splice	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA.	308						extracellular region				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	32						GAATAAAAGGTAAAAAAAAGA	0.353												
CDC20B	166979	broad.mit.edu	37	5	54415630	54415630	+	Splice_Site	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:54415629_54415629CA>C	uc003jpo.2	-	11	1636	c.1459_splice	c.e11+1	p.G487_splice	CDC20B_uc003jpn.2_Intron|CDC20B_uc010ivu.2_Splice_Site_p.G445_splice	NM_001170402	NP_001163873	Q86Y33	CD20B_HUMAN	Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA.	487										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			ATTTGCTTACCAAAAAACCCA	0.458												
RBM22	55696	broad.mit.edu	37	5	150072459	150072459	+	Splice_Site	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:150072458_150072458TG>T	uc003lst.3	-	10	1254	c.1132_splice	c.e10+1	p.G378_splice		NM_018047	NP_060517	Q9NW64	RBM22_HUMAN	Homo sapiens RNA binding motif protein 22 (RBM22), mRNA.	378	Pro-rich.				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	RNA binding|calcium-dependent protein binding|nucleotide binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAAGTTACCTGGGGGTGGGG	0.512												
MLL3	58508	broad.mit.edu	37	7	151836879	151836879	+	Splice_Site	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:151836878_151836878TA>T	uc003wla.3	-	56	14563	c.14344_splice	c.e56-1	p.G4782_splice	MLL3_uc003wkz.3_Splice_Site_p.G3896_splice|MLL3_uc003wkx.3_Splice_Site_p.G940_splice|MLL3_uc003wky.3_Splice_Site_p.G2342_splice	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4782	SET.				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)		GCCCAGCCCCTAAAAAAAAGT	0.413			N		medulloblastoma							
EYA1	2138	broad.mit.edu	37	8	72123392	72123392	+	Splice_Site	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:72123391_72123391CT>C	uc003xyu.3	-	17	2338	c.1698_splice	c.e17+1	p.K566_splice	EYA1_uc003xyt.4_Splice_Site_p.K533_splice|EYA1_uc003xyr.4_Splice_Site_p.K531_splice|EYA1_uc010lzf.3_Splice_Site_p.K493_splice|EYA1_uc003xys.4_Splice_Site_p.K566_splice|EYA1_uc011lfe.2_Splice_Site_p.K560_splice|EYA1_uc003xyv.3_Splice_Site_p.K444_splice	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	566					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GAATGCTCACCTTTTTTGCTC	0.358												
MUC2	4583	broad.mit.edu	37	11	1078269	1078269	+	Splice_Site	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:1078268_1078268CG>C	uc001lsx.1	+	5	581	c.554_splice	c.e5-1	p.G185_splice		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	185	VWFD 1.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CATCCCCAGGCGTGCTCTTCA	0.642												
DPY19L2	283417	broad.mit.edu	37	12	64055263	64055264	+	Splice_Site	INS	-	-	T	rs565018		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:64055262_64055263C>CT	uc001srp.1	-	4	632	c.451_splice	c.e4-1	p.G151_splice	DPY19L2_uc009zqk.1_Splice_Site	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	Homo sapiens dpy-19-like 2 (C. elegans) (DPY19L2), mRNA.	151					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AATAAAGTCCCTTTTTTTAAAA	0.257												
NDUFA12	55967	broad.mit.edu	37	12	95396516	95396516	+	Splice_Site	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:95396515_95396515CA>C	uc001tdl.3	-	2	224	c.169_splice	c.e2+1	p.G57_splice		NM_018838	NP_061326	Q9UI09	NDUAC_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 (NDUFA12), nuclear gene encoding mitochondrial protein, mRNA.	57					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)	CTGCACTCACCAAAAAATTGC	0.348												
CLIP1	6249	broad.mit.edu	37	12	122773037	122773037	+	Splice_Site	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:122773036_122773036CT>C	uc001ucg.2	-	21	3802	c.3647_splice	c.e21+1	p.R1216_splice	CLIP1_uc001uch.1_Splice_Site_p.R1205_splice|CLIP1_uc001uci.1_Splice_Site_p.R1170_splice|CLIP1_uc001ucj.1_Splice_Site_p.R791_splice	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	1216					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GAAAGCTTACCTTTTTTTCAT	0.328												
RNF17	56163	broad.mit.edu	37	13	25363909	25363912	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:25363908_25363911AAAGT>A	uc001upr.3	+	9	976	c.935_splice	c.e9+1	p.K312_splice	RNF17_uc010tdd.1_Splice_Site_p.K171_splice|RNF17_uc010tde.2_Splice_Site_p.K312_splice|RNF17_uc010aab.3_Splice_Site|RNF17_uc001ups.3_Splice_Site_p.K251_splice|RNF17_uc001upq.1_Splice_Site_p.K312_splice	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	312					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GGGACTCAACAAAGTAAGTATTTA	0.309												
KCNH5	27133	broad.mit.edu	37	14	63473193	63473193	+	Splice_Site	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:63473192_63473192TG>T	uc001xfx.3	-	3	249	c.198_splice	c.e3-1	p.S66_splice	KCNH5_uc001xfy.3_Splice_Site_p.S66_splice|KCNH5_uc001xfz.1_Splice_Site_p.S8_splice|KCNH5_uc001xga.3_Splice_Site_p.S8_splice	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	66	PAS.				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TACATAAAACTGGGGGGGAAA	0.353												
TRPM1	4308	broad.mit.edu	37	15	31332552	31332552	+	Splice_Site	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:31332551_31332551TG>T	uc021sia.1	-	17	2453	c.2139_splice	c.e17-1	p.K713_splice	TRPM1_uc010azy.3_Splice_Site_p.K581_splice|TRPM1_uc001zfl.3_Splice_Site|TRPM1_uc021shz.1_Splice_Site_p.K696_splice|TRPM1_uc001zfm.3_Splice_Site_p.K674_splice	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	674					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCGAAGTCTCTGGGGGGAAAG	0.517												
KIAA0100	9703	broad.mit.edu	37	17	26966334	26966334	+	Splice_Site	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:26966333_26966333CT>C	uc002hbu.3	-	11	1332	c.1229_splice	c.e11+1	p.R410_splice	KIAA0100_uc002hbv.3_Frame_Shift_Del_p.R410fs	NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	410						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TCAGACTGACCTTTTTTTCCT	0.433												
L3MBTL4	91133	broad.mit.edu	37	18	6241451	6241451	+	Splice_Site	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:6241450_6241450TA>T	uc002kmz.4	-	8	621	c.461_splice	c.e8-1	p.G154_splice	L3MBTL4_uc002kmy.4_Splice_Site_p.G154_splice|L3MBTL4_uc010dkt.3_Splice_Site_p.G154_splice	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	154					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TTCTATAACCTAAAAAAAGCA	0.323												
CTCFL	140690	broad.mit.edu	37	20	56064027	56064028	+	RNA	INS	-	-	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:56064026_56064027C>CA	uc010giu.3	-	3		c.656_657G>TG			CTCFL_uc010giv.3_Non-coding_Transcript			Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.						DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CAAGTTTGCACAAAAAATGCAT	0.455												
STX12	23673	broad.mit.edu	37	1	28099854	28099854	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:28099854delG	uc001bou.3	+	1	161	c.36delG	c.(34-36)CCGfs	p.P12fs		NM_177424	NP_803173	Q86Y82	STX12_HUMAN	syntaxin 12	12	Cytoplasmic (Potential).				cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity			breast(1)|central_nervous_system(1)	2		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		ACCGGAACCCGGGGCCCTCGG	0.652												
ZMYM4	9202	broad.mit.edu	37	1	35824656	35824656	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:35824656delT	uc001byt.2	+	3	296	c.216delT	c.(214-216)TATfs	p.Y72fs	ZMYM4_uc009vuu.2_Frame_Shift_Del_p.Y40fs|ZMYM4_uc001byu.2_Intron|ZMYM4_uc009vuv.2_5'UTR	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	zinc finger protein 262	72					multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAGATGATTATTTTTTGAACT	0.383												
MEF2D	4209	broad.mit.edu	37	1	156449123	156449123	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:156449123delC	uc001fpc.2	-	6	1013	c.623delG	c.(622-624)GGTfs	p.G208fs	MEF2D_uc001fpb.2_Frame_Shift_Del_p.G208fs|MEF2D_uc001fpd.2_Frame_Shift_Del_p.G208fs|MEF2D_uc001fpe.1_Frame_Shift_Del_p.G208fs|MEF2D_uc009wsa.2_RNA	NM_005920	NP_005911	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	208					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTTCAGGTCACCCCCCAGCAT	0.602												
RABGAP1L	9910	broad.mit.edu	37	1	174671277	174671277	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:174671277delT	uc001gjx.2	+	17	2247	c.2052delT	c.(2050-2052)CATfs	p.H684fs	RABGAP1L_uc001gkb.3_5'UTR|RABGAP1L_uc001gkc.3_5'UTR|RABGAP1L_uc001gkd.3_Frame_Shift_Del_p.H10fs	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like isoform A	684	Rab-GAP TBC.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			ovary(2)|lung(1)|kidney(1)	4						TGCATAGCCATTTTTCTGATC	0.448												
C1orf25	81627	broad.mit.edu	37	1	185109329	185109329	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:185109329delT	uc001grf.3	-	8	1157	c.885delA	c.(883-885)AAAfs	p.K295fs	C1orf25_uc010pon.1_Frame_Shift_Del_p.K139fs	NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN	N2,N2-dimethylguanosine tRNA	295						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding				0						TTCCAAGATGTTTTGCCCACT	0.308												
HMCN1	83872	broad.mit.edu	37	1	185897784	185897784	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:185897784delT	uc001grq.1	+	10	1766	c.1537delT	c.(1537-1539)TTTfs	p.F513fs		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	513	Ig-like C2-type 1.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GGCACAGACATTTTTTGACGT	0.403												
ZBTB41	360023	broad.mit.edu	37	1	197168526	197168526	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:197168526delT	uc001gtx.1	-	1	1147	c.1078delA	c.(1078-1080)ATAfs	p.I360fs	ZBTB41_uc009wyz.1_RNA|CRB1_uc010poz.1_5'Flank	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						CACTGCAATATTTTTTTGTTG	0.353												
TRAF3IP3	80342	broad.mit.edu	37	1	209933542	209933543	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:209933542_209933543delAG	uc001hho.2	+	3	448_449	c.158_159delAG	c.(157-159)CAGfs	p.Q53fs	TRAF3IP3_uc001hhl.2_Frame_Shift_Del_p.Q53fs|TRAF3IP3_uc001hhm.1_Frame_Shift_Del_p.Q53fs|TRAF3IP3_uc001hhn.2_Frame_Shift_Del_p.Q53fs|TRAF3IP3_uc009xcr.2_Frame_Shift_Del_p.Q53fs	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	TRAF3-interacting JNK-activating modulator	53	Cytoplasmic (Potential).					integral to membrane	protein binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.045)		AGGATCCAACAGAGAGAGCAGC	0.619												
GPR137B	7107	broad.mit.edu	37	1	236306034	236306034	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:236306034delC	uc001hxq.2	+	1	203	c.112delC	c.(112-114)CCCfs	p.P38fs		NM_003272	NP_003263	O60478	G137B_HUMAN	G protein-coupled receptor 137B	38	Extracellular (Potential).					integral to plasma membrane|membrane fraction					0	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CCCGGCCGTGCCCCCCTACGT	0.567												
NRG3	10718	broad.mit.edu	37	10	83635238	83635238	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:83635238delC	uc001kco.2	+	1	169	c.142delC	c.(142-144)CCCfs	p.P48fs	NRG3_uc010qlz.1_Frame_Shift_Del_p.P48fs|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	48	Extracellular (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GGCGGCCGAGCCCCCCCGGGA	0.512												
GPR123	84435	broad.mit.edu	37	10	134942202	134942202	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:134942202delG	uc001llx.3	+	7	1306	c.870delG	c.(868-870)CTGfs	p.L290fs	GPR123_uc001llw.2_Frame_Shift_Del_p.L1009fs	NM_001083909	NP_001077378	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	290	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TCAGCTGCCTGTACGGCGCCT	0.677												
SLC25A22	79751	broad.mit.edu	37	11	791923	791923	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:791923delG	uc001lri.2	-	10	1306	c.964delC	c.(964-966)CAGfs	p.Q322fs	CEND1_uc001lrh.1_5'Flank|SLC25A22_uc009yci.2_Frame_Shift_Del_p.Q322fs|SLC25A22_uc001lrj.2_Frame_Shift_Del_p.Q322fs	NM_024698	NP_078974	Q9H936	GHC1_HUMAN	mitochondrial glutamate carrier 1	322						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity				0		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	GCTCAGGCCTGGGGGTCCTGC	0.706												
DCDC1	341019	broad.mit.edu	37	11	31349818	31349818	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:31349818delT	uc001msv.2	-	3	212	c.10delA	c.(10-12)ACAfs	p.T4fs	DCDC1_uc001msu.1_5'UTR	NM_181807	NP_861523	P59894	DCDC1_HUMAN	doublecortin domain containing 1	4					intracellular signal transduction					skin(1)	1	Lung SC(675;0.225)					TCTGCTCCTGTTTTTGCCATT	0.353												
SHANK2	22941	broad.mit.edu	37	11	70331662	70331662	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:70331662delG	uc001oqc.2	-	21	4814	c.4736delC	c.(4735-4737)CCGfs	p.P1579fs	SHANK2_uc010rqn.1_Frame_Shift_Del_p.P991fs|SHANK2_uc001opz.2_Frame_Shift_Del_p.P984fs|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1200					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			gggagcgggcggggggATAAC	0.413												
MFRP	83552	broad.mit.edu	37	11	119213688	119213688	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:119213688delG	uc001pwj.2	-	10	1310	c.1150delC	c.(1150-1152)CACfs	p.H384fs	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Frame_Shift_Del_p.P308fs	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	Error:Variant_position_missing_in_Q9BXJ0_after_alignment						collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GAGACGAGGTGGGGGGGTGGC	0.622												
NTF3	4908	broad.mit.edu	37	12	5603709	5603709	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:5603709delC	uc001qnl.3	+	1	412	c.329delC	c.(328-330)ACCfs	p.T110fs	NTF3_uc001qnk.3_Frame_Shift_Del_p.T123fs	NM_002527	NP_002518	P20783	NTF3_HUMAN	neurotrophin 3 isoform 2 preproprotein	110					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			pancreas(1)	1						AGCGACAGCACCCCCTTGGAG	0.612												
ALG10	84920	broad.mit.edu	37	12	34179403	34179404	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:34179403_34179404insT	uc001rlm.2	+	3	1294_1295	c.975_976insT	c.(973-978)CTGTTTfs	p.L325fs		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	asparagine-linked glycosylation 10 homolog	325_326	Helical; (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			skin(1)	1	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				GTAGAATTCTGTTTTTTGTGGT	0.322												
KITLG	4254	broad.mit.edu	37	12	88910256	88910256	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:88910256delT	uc001tav.2	-	5	558	c.375delA	c.(373-375)AAAfs	p.K125fs	KITLG_uc009zsn.2_Intron|KITLG_uc001taw.2_Frame_Shift_Del_p.K125fs|KITLG_uc009zso.1_Intron	NM_000899	NP_000890	P21583	SCF_HUMAN	KIT ligand isoform b precursor	125	Extracellular (Potential).				cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			ovary(1)	1						TCTTGAATGATTTTTTTAGAT	0.338									Testicular_Cancer_Familial_Clustering_of			
USP44	84101	broad.mit.edu	37	12	95927797	95927798	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:95927797_95927798insA	uc001teg.2	-	2	379_380	c.235_236insT	c.(235-237)TGTfs	p.C79fs	USP44_uc001teh.2_Frame_Shift_Ins_p.C79fs|USP44_uc009zte.2_Frame_Shift_Ins_p.C76fs	NM_001042403	NP_001035862	Q9H0E7	UBP44_HUMAN	ubiquitin thiolesterase 44	79	UBP-type.				anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)|breast(1)|central_nervous_system(1)	3						ACAAAGGTAACAAAAAACGTAC	0.391											OREG0022039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CENPJ	55835	broad.mit.edu	37	13	25463471	25463471	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:25463471delT	uc001upt.3	-	11	3537	c.3284delA	c.(3283-3285)AATfs	p.N1095fs	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_Intron|CENPJ_uc001upu.2_Frame_Shift_Del_p.N129fs	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	1095					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			ovary(2)	2		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TGGAAGATAATTTTTCTTGTA	0.274												
ZC3H13	23091	broad.mit.edu	37	13	46577381	46577381	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:46577381delT	uc010tfw.1	-	7	843	c.837delA	c.(835-837)AAAfs	p.K279fs	ZC3H13_uc001vas.1_Frame_Shift_Del_p.K279fs|ZC3H13_uc001vat.1_Frame_Shift_Del_p.K279fs	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	279							nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TTTCTTTGTATTTTTTCCCCA	0.373												
CTAGE5	4253	broad.mit.edu	37	14	39819358	39819358	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:39819358delT	uc001wvg.3	+	24	2641	c.2305delT	c.(2305-2307)TTTfs	p.F769fs	CTAGE5_uc001wuz.3_Frame_Shift_Del_p.F757fs|CTAGE5_uc001wuy.3_Frame_Shift_Del_p.F689fs|CTAGE5_uc001wvb.3_Frame_Shift_Del_p.F697fs|CTAGE5_uc001wvc.3_Frame_Shift_Del_p.F671fs|CTAGE5_uc001wva.3_Frame_Shift_Del_p.F740fs|CTAGE5_uc001wvh.3_Frame_Shift_Del_p.F726fs|CTAGE5_uc001wvf.3_Frame_Shift_Del_p.F694fs|CTAGE5_uc001wvi.3_Frame_Shift_Del_p.F774fs|CTAGE5_uc010amz.2_Frame_Shift_Del_p.F385fs|CTAGE5_uc001wvj.3_Frame_Shift_Del_p.F740fs	NM_005930	NP_005921	O15320	CTGE5_HUMAN	CTAGE family, member 5 isoform 1	769	Pro-rich.						enzyme activator activity|protein binding				0	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		AAGACCTGGATTTTTCCCCCC	0.453												
DDHD1	80821	broad.mit.edu	37	14	53619422	53619422	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:53619422delC	uc001xai.2	-	1	625	c.395delG	c.(394-396)GGCfs	p.G132fs	DDHD1_uc001xaj.2_Frame_Shift_Del_p.G132fs|DDHD1_uc001xah.2_Frame_Shift_Del_p.G132fs	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1 isoform c	132					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			ovary(2)	2	Breast(41;0.037)					CGCGCCGCCGCCCCCCGAGTT	0.741												
TRPM7	54822	broad.mit.edu	37	15	50925140	50925140	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:50925140delT	uc001zyt.3	-	9	1321	c.1057delA	c.(1057-1059)ACAfs	p.T353fs	TRPM7_uc010bew.1_Frame_Shift_Del_p.T353fs	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	353	Cytoplasmic (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AAGTTAAATGTTTTTTTGATA	0.338												
NEIL1	79661	broad.mit.edu	37	15	75641547	75641547	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:75641547delT	uc002bad.2	+	2	807	c.301delT	c.(301-303)TTTfs	p.F101fs	NEIL1_uc002bae.2_Frame_Shift_Del_p.F187fs	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1	101					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding			ovary(1)	1						CCACCTGCGCTTTTACACGGC	0.701								BER_DNA_glycosylases				
KIF7	374654	broad.mit.edu	37	15	90190140	90190140	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:90190140delC	uc002bof.2	-	7	1786	c.1709delG	c.(1708-1710)GGTfs	p.G570fs	KIF7_uc010upw.1_Frame_Shift_Del_p.G57fs	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	kinesin family member 7	570					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			ovary(2)|lung(1)	3	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GGCGTGGGCACCCCCCAGGGG	0.687											OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CREBBP	1387	broad.mit.edu	37	16	3778282	3778282	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:3778282delG	uc002cvv.2	-	31	6970	c.6766delC	c.(6766-6768)CTCfs	p.L2256fs	CREBBP_uc002cvw.2_Frame_Shift_Del_p.L2218fs	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	2256					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)		CTGCCCTGGAGGGGGAGATGC	0.692			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome			
C17orf49	124944	broad.mit.edu	37	17	6918391	6918393	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:6918391_6918393delTCT	uc002gec.2	+	4	932_934	c.32_34delTCT	c.(31-36)ATCTTC>ATC	p.F12del	uc002gdy.1_5'Flank|C17orf49_uc002geb.3_In_Frame_Del_p.F73del|C17orf49_uc002ged.2_In_Frame_Del_p.F12del|C17orf49_uc002gee.2_In_Frame_Del_p.F12del|C17orf49_uc010vti.1_In_Frame_Del_p.F12del	NM_174893	NP_777553	Q8IXM2	BAP18_HUMAN	hypothetical protein LOC124944 isoform 2	12					chromatin modification	MLL1 complex|NURF complex	DNA binding			large_intestine(1)	1						GTCGGAGAGATCTTCTCGGCGGC	0.458												
ZBTB4	57659	broad.mit.edu	37	17	7366339	7366340	+	In_Frame_Ins	INS	-	-	TCC			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:7366339_7366340insTCC	uc002ghc.3	-	4	2211_2212	c.1961_1962insGGA	c.(1960-1962)GAA>GAGGAA	p.654_654E>EE	ZBTB4_uc002ghd.3_In_Frame_Ins_p.654_654E>EE	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	654	Glu-rich.|Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CAGCCTTTGATtcctcctcatc	0.411												
CRLF3	51379	broad.mit.edu	37	17	29123265	29123265	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:29123265delA	uc002hfr.3	-	4	625	c.516delT	c.(514-516)TTTfs	p.F172fs	CRLF3_uc010wbr.1_Frame_Shift_Del_p.F56fs	NM_015986	NP_057070	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	172					negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm					0		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				TTCCATGCTTAAAAATGTGGT	0.408												
TMEM132E	124842	broad.mit.edu	37	17	32953916	32953916	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:32953916delC	uc002hif.2	+	3	896	c.568delC	c.(568-570)CCCfs	p.P190fs		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	190	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)		GTTCCGCCCGCCCCCCAGGAG	0.547												
PIP4K2B	8396	broad.mit.edu	37	17	36955530	36955530	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:36955530delC	uc002hqs.2	-	1	629	c.148delG	c.(148-150)GTGfs	p.V50fs	PIP4K2B_uc010wdt.1_Frame_Shift_Del_p.V50fs	NM_003559	NP_003550	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	50	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			ovary(1)	1						GTGTGGTTCACCCCCCACATC	0.677												
LUC7L3	51747	broad.mit.edu	37	17	48827882	48827882	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:48827882delA	uc002isr.2	+	10	1276	c.1159delA	c.(1159-1161)AAAfs	p.K387fs	LUC7L3_uc010wmw.1_Frame_Shift_Del_p.K311fs|LUC7L3_uc002isq.2_Frame_Shift_Del_p.K387fs|LUC7L3_uc002iss.2_Frame_Shift_Del_p.K387fs|uc002ist.1_5'Flank	NM_006107	NP_006098	O95232	LC7L3_HUMAN	LUC7-like 3	387	Arg/Ser-rich.				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding				0						ATCTGATGATAAAAAAAGTAG	0.358												
BZRAP1	9256	broad.mit.edu	37	17	56386700	56386702	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:56386700_56386702delCTC	uc002ivx.3	-	22	4802_4804	c.3931_3933delGAG	c.(3931-3933)GAGdel	p.E1311del	BZRAP1_uc002ivw.2_5'Flank|BZRAP1_uc010dcs.2_In_Frame_Del_p.E1251del|BZRAP1_uc010wnt.1_In_Frame_Del_p.E1311del	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	1311						mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCCAAGATCTCCTCATCGCTG	0.478												
STRADA	92335	broad.mit.edu	37	17	61781804	61781804	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:61781804delG	uc002jbm.2	-	11	1156	c.997delC	c.(997-999)CGGfs	p.R333fs	STRADA_uc002jbn.2_Frame_Shift_Del_p.R275fs|STRADA_uc002jbo.2_Frame_Shift_Del_p.R296fs|STRADA_uc002jbp.2_Frame_Shift_Del_p.R296fs|STRADA_uc002jbq.2_Frame_Shift_Del_p.R275fs|STRADA_uc010wpq.1_Frame_Shift_Del_p.R289fs|STRADA_uc010wpr.1_Frame_Shift_Del_p.R304fs|STRADA_uc010ddw.2_Frame_Shift_Del_p.R304fs|STRADA_uc002jbr.2_3'UTR	NM_001003787	NP_001003787	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha isoform 1	333	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|kinase binding|protein kinase activity			ovary(1)	1						TTGGAGGGCCGGGGGGTGCTG	0.647												
AXIN2	8313	broad.mit.edu	37	17	63532585	63532585	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:63532585delC	uc002jfi.2	-	8	2283	c.1994delG	c.(1993-1995)GGCfs	p.G665fs	AXIN2_uc002jfh.2_Frame_Shift_Del_p.G600fs	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	665					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2						CCCGCTGTTGCCCCCCCACAG	0.657									Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome			
TRIM47	91107	broad.mit.edu	37	17	73870678	73870679	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:73870678_73870679delAA	uc002jpw.2	-	6	1829_1830	c.1802_1803delTT	c.(1801-1803)TTTfs	p.F601fs	TRIM47_uc002jpv.2_Frame_Shift_Del_p.F363fs	NM_033452	NP_258411	Q96LD4	TRI47_HUMAN	tripartite motif-containing 47	601	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			ovary(2)|prostate(1)|lung(1)|breast(1)	5			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGAGCCCCGCAAAGTGACTGTC	0.649												
ANKRD12	23253	broad.mit.edu	37	18	9255247	9255247	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:9255247delA	uc002knv.2	+	9	2239	c.1982delA	c.(1981-1983)GAAfs	p.E661fs	ANKRD12_uc002knw.2_Frame_Shift_Del_p.E638fs|ANKRD12_uc002knx.2_Frame_Shift_Del_p.E638fs|ANKRD12_uc010dkx.1_Frame_Shift_Del_p.E368fs	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	661						nucleus				ovary(2)|central_nervous_system(1)	3						aaagagagggaaaaagaaaag	0.035												
KCNH7	90134	broad.mit.edu	37	2	163693269	163693270	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:163693269_163693270insT	uc002uch.1	-	2	296_297	c.84_85insA	c.(82-87)AAATTTfs	p.K28fs	KCNH7_uc002uci.2_Frame_Shift_Ins_p.K28fs	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	28_29	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	GCAATGATAAATTTTTTATCTG	0.381												
CYBRD1	79901	broad.mit.edu	37	2	172410001	172410001	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:172410001delT	uc002ugy.3	+	3	738	c.548delT	c.(547-549)ATTfs	p.I183fs	CYBRD1_uc002ugz.3_Frame_Shift_Del_p.D113fs	NM_024843	NP_079119	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1 isoform 1	183	Cytochrome b561.				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding				0						GAGAAACTGATTTTTTCCCTG	0.328												
ALS2CR11	151254	broad.mit.edu	37	2	202352566	202352566	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:202352566delT	uc002uye.2	-	15	1689	c.1641delA	c.(1639-1641)AAAfs	p.K547fs	ALS2CR11_uc002uyf.2_Frame_Shift_Del_p.K1744fs|ALS2CR11_uc010fti.2_3'UTR	NM_152525	NP_689738	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	547										large_intestine(1)|ovary(1)|skin(1)	3						TTGATTTTACTTTTTTAAGGT	0.338												
SLC13A3	64849	broad.mit.edu	37	20	45192098	45192098	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:45192098delG	uc002xsf.1	-	12	1625	c.1587delC	c.(1585-1587)CCCfs	p.P529fs	SLC13A3_uc010ghn.1_Frame_Shift_Del_p.P498fs|SLC13A3_uc010zxw.1_Frame_Shift_Del_p.P479fs|SLC13A3_uc002xsg.1_Frame_Shift_Del_p.P482fs|SLC13A3_uc010gho.1_Frame_Shift_Del_p.P447fs|SLC13A3_uc010zxx.1_Frame_Shift_Del_p.P431fs|SLC13A3_uc002xse.1_Frame_Shift_Del_p.P20fs|SLC13A3_uc010ghm.1_Frame_Shift_Del_p.P116fs|SLC13A3_uc010zxv.1_Frame_Shift_Del_p.P114fs	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	solute carrier family 13 member 3 isoform a	529	Cytoplasmic (Potential).					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CGATGGAGTTGGGGGGCGTTG	0.632												
COL18A1	80781	broad.mit.edu	37	21	46925297	46925297	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:46925297delC	uc011afs.1	+	36	4296	c.4275delC	c.(4273-4275)GGCfs	p.G1425fs	COL18A1_uc002zhg.2_Frame_Shift_Del_p.G1010fs|COL18A1_uc002zhi.2_Frame_Shift_Del_p.G1190fs|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.2_5'UTR|COL18A1_uc002zhk.2_5'Flank	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	1428	Triple-helical region 10 (COL10).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCCCTCCGGGCccccctgggc	0.597												
FTCD	10841	broad.mit.edu	37	21	47571590	47571591	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:47571590_47571591insC	uc002zif.2	-	5	561_562	c.517_518insG	c.(517-519)GCCfs	p.A173fs	FTCD_uc002zig.2_Frame_Shift_Ins_p.A173fs|FTCD_uc002zih.2_Frame_Shift_Ins_p.A173fs|FTCD_uc010gqf.2_Frame_Shift_Ins_p.A173fs|FTCD_uc010gqg.1_Frame_Shift_Ins_p.A42fs	NM_006657	NP_006648	O95954	FTCD_HUMAN	formiminotransferase cyclodeaminase	173	Formiminotransferase N-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			pancreas(1)|skin(1)	2	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CGTGGCCGTGGCCCCCCAACTG	0.639												
SSTR3	6753	broad.mit.edu	37	22	37602749	37602749	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:37602749delC	uc003ara.2	-	2	1156	c.1094delG	c.(1093-1095)GGCfs	p.G365fs	SSTR3_uc003arb.2_Frame_Shift_Del_p.G365fs	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	365	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			lung(1)	1						CTTCCCCTTGCCCCCCTCCCT	0.582												
ARSA	410	broad.mit.edu	37	22	51063611	51063611	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:51063611delG	uc003bnb.3	-	9	1739	c.1486delC	c.(1486-1488)CGCfs	p.R496fs	ARSA_uc003bna.3_Frame_Shift_Del_p.R412fs|ARSA_uc003bnc.3_Frame_Shift_Del_p.R496fs|ARSA_uc003bnd.3_Frame_Shift_Del_p.R496fs|ARSA_uc003bmz.3_Frame_Shift_Del_p.R496fs	NM_001085426	NP_001078895	P15289	ARSA_HUMAN	arylsulfatase A isoform a precursor	496						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			pancreas(1)|skin(1)	2		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	CAAGCTGGGCGGGGGGTGCAG	0.692												
NISCH	11188	broad.mit.edu	37	3	52524146	52524146	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:52524146delC	uc011beg.1	+	19	3584	c.3512delC	c.(3511-3513)ACCfs	p.T1171fs	NISCH_uc003ded.3_Frame_Shift_Del_p.T1171fs|NISCH_uc003dee.3_Frame_Shift_Del_p.T660fs|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_5'Flank	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1171					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TTCTACCAGACCCCAGGGCTG	0.617												
PBRM1	55193	broad.mit.edu	37	3	52678784	52678784	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:52678784delT	uc003des.2	-	8	847	c.835delA	c.(835-837)ATAfs	p.I279fs	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Frame_Shift_Del_p.I279fs|PBRM1_uc003der.2_Frame_Shift_Del_p.I279fs|PBRM1_uc003det.2_Frame_Shift_Del_p.I279fs|PBRM1_uc003deu.2_Frame_Shift_Del_p.I279fs|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Frame_Shift_Del_p.I279fs|PBRM1_uc010hmk.1_Frame_Shift_Del_p.I279fs|PBRM1_uc003dey.2_Frame_Shift_Del_p.I279fs|PBRM1_uc003dez.1_Frame_Shift_Del_p.I279fs|PBRM1_uc003dfb.1_Frame_Shift_Del_p.I177fs	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	279					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.I279fs*4(2)		kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		atataaaatatttttttaatt	0.299			Mis|N|F|S|D|O		clear cell renal carcinoma|breast							
COL8A1	1295	broad.mit.edu	37	3	99513830	99513830	+	Frame_Shift_Del	DEL	G	G	-	rs139380413		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:99513830delG	uc003dtg.1	+	5	1330	c.1085delG	c.(1084-1086)CGGfs	p.R362fs	COL8A1_uc003dth.1_Frame_Shift_Del_p.R362fs|COL8A1_uc003dti.1_Frame_Shift_Del_p.R363fs	NM_001850	NP_001841	P27658	CO8A1_HUMAN	alpha 1 type VIII collagen precursor	362	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII					0						AAAGGTGACCGGGGCATGGGA	0.627												
IMPG2	50939	broad.mit.edu	37	3	100963396	100963397	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:100963396_100963397delTT	uc003duq.1	-	13	1981_1982	c.1778_1779delAA	c.(1777-1779)AAAfs	p.K593fs	IMPG2_uc011bhe.1_Frame_Shift_Del_p.K456fs	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	593	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						ATATTAACTCTTTTTCCATGGA	0.446												
NPHP3	27031	broad.mit.edu	37	3	132438662	132438662	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:132438662delT	uc003epe.1	-	2	483	c.406delA	c.(406-408)ACGfs	p.T136fs	NCRNA00119_uc003epg.1_5'Flank|NPHP3_uc003epf.1_5'UTR|NCRNA00119_uc010htu.1_5'Flank	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	136	Potential.				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			ovary(1)	1						TTCTGATACGTTTTTTGAAGT	0.289												
RFC1	5981	broad.mit.edu	37	4	39324961	39324961	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:39324961delT	uc003gty.1	-	7	853	c.719delA	c.(718-720)AAGfs	p.K240fs	RFC1_uc003gtx.1_Frame_Shift_Del_p.K240fs|RFC1_uc003gtz.1_Frame_Shift_Del_p.K124fs	NM_002913	NP_002904	P35251	RFC1_HUMAN	replication factor C large subunit	240					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4						TTATGCCACCTTTTTGGTCTT	0.413												
SLC4A4	8671	broad.mit.edu	37	4	72215771	72215772	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:72215771_72215772delTC	uc003hfy.2	+	5	649_650	c.532_533delTC	c.(532-534)TCTfs	p.S178fs	SLC4A4_uc010iic.2_Frame_Shift_Del_p.S178fs|SLC4A4_uc010iib.2_Frame_Shift_Del_p.S178fs|SLC4A4_uc003hfz.2_Frame_Shift_Del_p.S178fs|SLC4A4_uc003hgc.3_Frame_Shift_Del_p.S134fs|SLC4A4_uc003hga.2_Frame_Shift_Del_p.S56fs|SLC4A4_uc003hgb.3_Frame_Shift_Del_p.S134fs	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	solute carrier family 4, sodium bicarbonate	178	Cytoplasmic (Potential).					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GGAGGCTTCTTCTCTCCCACAG	0.455												
SDAD1	55153	broad.mit.edu	37	4	76877153	76877153	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:76877153delT	uc003hje.3	-	21	2110	c.1991delA	c.(1990-1992)AATfs	p.N664fs	SDAD1_uc003hjf.3_Frame_Shift_Del_p.N567fs|SDAD1_uc011cbr.1_Frame_Shift_Del_p.N627fs	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	664					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			ovary(1)	1			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGAACGCTTATTTTTTGACCG	0.393												
OXCT1	5019	broad.mit.edu	37	5	41794812	41794812	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:41794812delA	uc003jmn.2	-	12	1470	c.1139delT	c.(1138-1140)TTCfs	p.F380fs	OXCT1_uc011cpo.1_5'Flank|OXCT1_uc011cpp.1_5'Flank	NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	380					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)	ATCGCTGGAGAAAAAAGAGGC	0.403												
SRFBP1	153443	broad.mit.edu	37	5	121355987	121355987	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:121355987delA	uc003kst.1	+	6	629	c.557delA	c.(556-558)GAAfs	p.E186fs		NM_152546	NP_689759	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm					0		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		AATTCAAAGGAAAAAATAGCA	0.373												
PCDHB13	56123	broad.mit.edu	37	5	140594607	140594607	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140594607delA	uc003lja.1	+	1	1099	c.912delA	c.(910-912)CTAfs	p.L304fs		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	304	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATTGAACTAAAAAAACAAC	0.388												
RPL10A	4736	broad.mit.edu	37	6	35437275	35437277	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:35437275_35437277delCAA	uc003okp.1	+	4	313_315	c.279_281delCAA	c.(277-282)CTCAAC>CTC	p.N94del	RPL10A_uc003okq.1_In_Frame_Del_p.N10del|RPL10A_uc003okr.1_In_Frame_Del_p.N10del|RPL10A_uc003oks.1_In_Frame_Del_p.N10del	NM_007104	NP_009035	P62906	RL10A_HUMAN	ribosomal protein L10a	94					anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome			ovary(1)	1						TGAAAAAACTCAACAAGAATAAA	0.532												
KIAA0240	23506	broad.mit.edu	37	6	42832627	42832627	+	Frame_Shift_Del	DEL	A	A	-	rs139801339		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:42832627delA	uc003osn.1	+	13	2834	c.2683delA	c.(2683-2685)AAAfs	p.K895fs	KIAA0240_uc011duw.1_Frame_Shift_Del_p.K895fs|KIAA0240_uc003osp.1_Frame_Shift_Del_p.K895fs	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	hypothetical protein LOC23506	895										ovary(1)	1	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			AAACATTTCTAAAAAAACAGA	0.488												
XPO5	57510	broad.mit.edu	37	6	43491633	43491634	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:43491633_43491634insC	uc003ovp.2	-	32	3798_3799	c.3587_3588insG	c.(3586-3588)GGTfs	p.G1196fs	POLR1C_uc003ovo.1_Intron	NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	exportin 5	1196					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			skin(2)|breast(1)|kidney(1)	4	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TGGCCAGGCCACCCCCATCATT	0.485												
TDRD6	221400	broad.mit.edu	37	6	46659410	46659410	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:46659410delA	uc003oyj.2	+	1	3545	c.3545delA	c.(3544-3546)GAAfs	p.E1182fs	TDRD6_uc010jze.2_Frame_Shift_Del_p.E1176fs	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	1182					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			ACTCTTGAAGAAAAAAATGAG	0.308												
FAM135A	57579	broad.mit.edu	37	6	71185391	71185392	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:71185391_71185392insT	uc003pfj.2	+	5	456_457	c.323_324insT	c.(322-324)AATfs	p.N108fs	FAM135A_uc003pfi.2_Frame_Shift_Ins_p.N108fs|FAM135A_uc003pfh.2_Frame_Shift_Ins_p.N65fs|FAM135A_uc003pfk.2_Frame_Shift_Ins_p.N108fs|FAM135A_uc003pfl.2_5'UTR	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	hypothetical protein LOC57579 isoform c	108										central_nervous_system(1)	1						GAGGAAATGAATTTTCTATTAT	0.287												
RNF217	154214	broad.mit.edu	37	6	125404041	125404042	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:125404041_125404042insA	uc003pzs.2	+	9	1164_1165	c.826_827insA	c.(826-828)TAAfs	p.*276fs	RNF217_uc003pzr.2_Frame_Shift_Ins_p.C294fs|RNF217_uc003pzt.2_RNA	NM_152553	NP_689766	Q8TC41	RN217_HUMAN	ring finger protein 217	276					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		ATTGCCTTTGTAAAAAACAGAG	0.366												
TEX15	56154	broad.mit.edu	37	8	30702947	30702947	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:30702947delA	uc003xil.2	-	1	3587	c.3587delT	c.(3586-3588)TTAfs	p.L1196fs		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1196										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGTGCTAGATAAAAATGCTGT	0.318												
SGK3	23678	broad.mit.edu	37	8	67716612	67716612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:67716612delA	uc003xwr.2	+	4	482	c.183delA	c.(181-183)TTAfs	p.L61fs	SGK3_uc003xwp.2_Frame_Shift_Del_p.L55fs|SGK3_uc003xwt.2_Frame_Shift_Del_p.L61fs|SGK3_uc003xwu.2_Frame_Shift_Del_p.L61fs	NM_001033578	NP_001028750	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase 3 isoform	61	PX.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			ovary(1)|large_intestine(1)|lung(1)|breast(1)	4	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			aattttagttaaaaaaaCAGT	0.279												
PREX2	80243	broad.mit.edu	37	8	68965390	68965390	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:68965390delA	uc003xxv.1	+	9	1029	c.1002delA	c.(1000-1002)GCAfs	p.A334fs	PREX2_uc003xxu.1_Frame_Shift_Del_p.A334fs|PREX2_uc011lez.1_Frame_Shift_Del_p.A269fs	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	334	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						ATAACACAGCAAAAAATAAAT	0.358												
CRB2	286204	broad.mit.edu	37	9	126129551	126129552	+	Frame_Shift_Ins	INS	-	-	G	rs147047443	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:126129551_126129552insG	uc004bnx.1	+	5	947_948	c.855_856insG	c.(853-858)TACGGGfs	p.Y285fs	CRB2_uc004bnw.1_Frame_Shift_Ins_p.Y285fs	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	285_286	Extracellular (Potential).|EGF-like 6.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						CGGCCCTCTACGGGGGTGTCCA	0.693												
GOLGA2	2801	broad.mit.edu	37	9	131023072	131023072	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:131023072delG	uc011maw.1	-	17	1362	c.1349delC	c.(1348-1350)CCGfs	p.P450fs	GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004buh.2_5'UTR|uc004bun.2_5'Flank	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	450	Potential.|Poly-Pro.					Golgi cisterna membrane	protein binding			ovary(1)	1						CTCTGGGGGCGGGGGTTCAGC	0.597												
CACNA1F	778	broad.mit.edu	37	X	49066409	49066409	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:49066409delG	uc004dnb.2	-	40	4777	c.4715delC	c.(4714-4716)CCAfs	p.P1572fs	CACNA1F_uc010nip.2_Frame_Shift_Del_p.P1561fs	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	1572	Cytoplasmic (Potential).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)	ACCGTCTGGTGGGGGGATGAC	0.597												
TAF1	6872	broad.mit.edu	37	X	70680578	70680578	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:70680578delA	uc004dzu.3	+	37	5372	c.5321delA	c.(5320-5322)GAAfs	p.E1774fs	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Frame_Shift_Del_p.E1795fs|TAF1_uc004dzv.3_Frame_Shift_Del_p.E982fs|TAF1_uc010nle.1_RNA|TAF1_uc010nlf.1_Frame_Shift_Del_p.E199fs|TAF1_uc004dzx.2_RNA|TAF1_uc004dzy.2_RNA|TAF1_uc004dzw.1_RNA|TAF1_uc010nlg.1_RNA	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	1774	Asp/Glu-rich (acidic tail).|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)				ATGGACATGGAAAATGAAGAA	0.493												
HNRNPH2	3188	broad.mit.edu	37	X	100667857	100667857	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:100667857delG	uc004ehm.2	+	2	1051	c.881delG	c.(880-882)AGGfs	p.R294fs	HNRNPH2_uc004ehn.2_Frame_Shift_Del_p.R294fs	NM_019597	NP_062543	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2	294	RRM 3.|2 X 16 AA Gly-rich approximate repeats.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding				0						GTACACATGAGGGGGTTACCT	0.438												
UTY	7404	broad.mit.edu	37	Y	15411007	15411007	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrY:15411007delA	uc004fsx.1	-	24	4412	c.3407delT	c.(3406-3408)TTAfs	p.L1136fs	UTY_uc004fsw.1_Frame_Shift_Del_p.L799fs|UTY_uc010nwx.1_Frame_Shift_Del_p.L193fs|UTY_uc004fsy.2_Frame_Shift_Del_p.L1136fs	NM_007125	NP_009056	O14607	UTY_HUMAN	tetratricopeptide repeat protein isoform 3	1136	JmjC.				chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						AGAACTCATTAAAAAATTCAA	0.299												
GABRD	2563	broad.mit.edu	37	1	1961598	1961598	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:1961597_1961597AG>A	uc001aip.2	+	8	1330	c.1235_1235AG>A	c.(1234-1236)cagfs	p.Q412fs		NM_000815	NP_000806	O14764	GBRD_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.	412						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	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;2.7e-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;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCAGGAGGCCAGGGGGGCATC	0.682												
CAMTA1	23261	broad.mit.edu	37	1	6885240	6885241	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:6885239_6885240C>CA	uc001aoi.3	+	2	410_411	c.203_204C>CA	c.(202-204)ccafs	p.P68fs	CAMTA1_uc021ofq.1_Frame_Shift_Ins_p.P68fs|CAMTA1_uc021ofr.1_Non-coding_Transcript|CAMTA1_uc001aoh.3_Frame_Shift_Ins_p.P68fs	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	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)		TCAAGTTTACCAAAAGAGAGGC	0.347			T	WWTR1	epitheliod hemangioendothelioma							
SPEN	23013	broad.mit.edu	37	1	16258928	16258928	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:16258927_16258927GA>G	uc001axk.1	+	10	6396	c.6192_6192GA>G	c.(6190-6192)gagfs	p.E2064fs	SPEN_uc010obp.1_Frame_Shift_Del_p.E2023fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	2064					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		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)		AAGTTGTAGAGAAAAAACCGG	0.478												
UBR4	23352	broad.mit.edu	37	1	19449429	19449430	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:19449428_19449429C>CA	uc001bbi.3	-	65	9718_9719	c.9714_9715G>TG	c.(9712-9717)cgtgggfs	p.R3238fs	UBR4_uc001bbk.1_Frame_Shift_Ins_p.R885fs	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	3238					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.R3238L(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTCTTGATCCCACGCACGTGAG	0.550												
ARID1A	8289	broad.mit.edu	37	1	27105931	27105931	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:27105930_27105930TG>T	uc001bmv.1	+	19	5914	c.5541_5541TG>T	c.(5539-5541)ggtfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1847					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	p.G1848fs*6(3)|p.G1847fs*36(1)	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)		GGCGGATTGGTGGGGGGGACA	0.582			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
KIAA0754	643314	broad.mit.edu	37	1	39877724	39877724	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:39877723_39877723GA>G	uc009vvt.1	+	0	2548	c.1786_1786GA>G	c.(1786-1788)gaafs	p.E596fs	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	Homo sapiens KIAA0754 (KIAA0754), mRNA.	460										central_nervous_system(1)|large_intestine(6)|skin(1)	8	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)			GGATTCACTGGAAAAGCTGGA	0.468												
TIE1	7075	broad.mit.edu	37	1	43766758	43766758	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:43766757_43766757GC>G	uc001ciu.3	+	0	192	c.15_15GC>G	c.(13-15)gtgfs	p.V5fs	TIE1_uc010okd.2_Frame_Shift_Del_p.V5fs|TIE1_uc010oke.2_5'UTR|TIE1_uc009vwq.3_Frame_Shift_Del_p.V5fs|TIE1_uc010oka.2_Frame_Shift_Del_p.V5fs|TIE1_uc010okb.2_Frame_Shift_Del_p.V5fs|TIE1_uc010okc.2_Frame_Shift_Del_p.V5fs	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	5					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCTGGCGGGTGCCCCCTTTCT	0.617												
RNF220	55182	broad.mit.edu	37	1	44878287	44878287	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:44878286_44878286TC>T	uc001clv.1	+	1	877	c.517_517TC>T	c.(517-519)tccfs	p.S173fs	RNF220_uc001clw.1_Frame_Shift_Del_p.S173fs	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	Homo sapiens ring finger protein 220 (RNF220), mRNA.	173					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						GCCATCTAGCTCCCCCGGTTC	0.507												
ST6GALNAC5	81849	broad.mit.edu	37	1	77510209	77510209	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:77510208_77510208AG>A	uc001dhi.3	+	2	756	c.581_581AG>A	c.(580-582)cagfs	p.Q194fs	ST6GALNAC5_uc010ori.2_Intron|ST6GALNAC5_uc009wbw.3_Non-coding_Transcript	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 (ST6GALNAC5), mRNA.	194					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						CTCCTGAGCCAGGTGCTGCCC	0.582												
COL11A1	1301	broad.mit.edu	37	1	103474067	103474068	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:103474066_103474067G>GC	uc001dum.3	-	14	1989_1990	c.1671_1672C>GC	c.(1669-1674)gggcctfs	p.G557fs	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Frame_Shift_Ins_p.G545fs|COL11A1_uc001dun.3_Frame_Shift_Ins_p.G506fs|COL11A1_uc009weh.3_Frame_Shift_Ins_p.G429fs	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	545	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GATGAACCAGGCCCCCCCTATA	0.366												
GPSM2	29899	broad.mit.edu	37	1	109466682	109466683	+	Frame_Shift_Del	DEL	CA	CA	-	rs145191476		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:109466681_109466682TCA>T	uc010ovc.2	+	13	2156_2157	c.1660_1661TCA>T	c.(1660-1662)tcafs	p.S554fs	AKNAD1_uc010ovb.2_Intron|GPSM2_uc010ovd.2_Frame_Shift_Del_p.S554fs|GPSM2_uc010ove.1_Frame_Shift_Del_p.S554fs	NM_013296	NP_037428	P81274	GPSM2_HUMAN	Homo sapiens G-protein signaling modulator 2 (GPSM2), mRNA.	554	GoLoco 2.				G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TCTTGCCAGCTCACAGAGTCGC	0.450												
NOTCH2	4853	broad.mit.edu	37	1	120539850	120539851	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:120539849_120539850G>GA	uc001eik.3	-	3	818_819	c.521_522C>TC	c.(520-522)ttcfs	p.F174fs	NOTCH2_uc001eil.3_Frame_Shift_Ins_p.F174fs|NOTCH2_uc021osy.1_Frame_Shift_Ins_p.F135fs|NOTCH2_uc001eim.4_Frame_Shift_Ins_p.F91fs	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	174	EGF-like 4.				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTGCCCTGTGAAGCCTGTGAG	0.550			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome			
BCL9	607	broad.mit.edu	37	1	147091501	147091502	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:147091500_147091501A>AC	uc001epq.3	+	7	2279_2280	c.1539_1540A>AC	c.(1537-1542)ggacccfs	p.G513fs	BCL9_uc010ozr.1_Frame_Shift_Ins_p.G439fs	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	513	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TGGTCCGAGGACCCCCCCCTCC	0.579			T	"""IGH@, IGL@"""	B-ALL							
PAPPA2	60676	broad.mit.edu	37	1	176563964	176563964	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:176563963_176563963TG>T	uc001gkz.3	+	2	2387	c.1223_1223TG>T	c.(1222-1224)ctgfs	p.L408fs	PAPPA2_uc001gky.1_Frame_Shift_Del_p.L408fs|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	408					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.L408fs*49(3)|p.L408L(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCTTTGCTCCTGGGGGGAGAC	0.577												
KIF14	9928	broad.mit.edu	37	1	200561296	200561296	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:200561295_200561295CT>C	uc010ppk.1	-	15	3165	c.2726_2726AG>G	c.(2725-2727)aggfs	p.R909fs	KIF14_uc010ppj.1_Frame_Shift_Del_p.R418fs	NM_014875	NP_055690	Q15058	KIF14_HUMAN	Homo sapiens kinesin family member 14 (KIF14), mRNA.	909	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TCCAGATGGCCTTTTTCCTTT	0.378												
PLEKHA6	22874	broad.mit.edu	37	1	204228411	204228411	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	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												
ARID4B	51742	broad.mit.edu	37	1	235345233	235345233	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:235345232_235345232GT>G	uc021pks.1	-	19	3379	c.3002_3002AC>C	c.(3001-3003)acafs	p.T1001fs	ARID4B_uc001hwq.3_Frame_Shift_Del_p.T1001fs|ARID4B_uc001hwr.3_Frame_Shift_Del_p.T915fs|ARID4B_uc001hws.4_Frame_Shift_Del_p.T915fs|RBM34_uc001hwp.3_Non-coding_Transcript|ARID4B_uc001hwt.4_Frame_Shift_Del_p.T682fs	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	1001				T -> Q (in Ref. 3; AAF23433).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			GACCTCTACTGTTTTTTCTTC	0.433												
GPR137B	7107	broad.mit.edu	37	1	236306298	236306298	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr1:236306297_236306297GT>G	uc001hxq.3	+	0	466	c.375_375GT>G	c.(373-375)cagfs	p.Q125fs		NM_003272	NP_003263	O60478	G137B_HUMAN	Homo sapiens G protein-coupled receptor 137B (GPR137B), mRNA.	125						integral to plasma membrane|membrane fraction		p.Q125H(3)		endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			TGTGCCTGCAGTTTTTCACCC	0.602												
FAM98A	25940	broad.mit.edu	37	2	33813525	33813525	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:33813524_33813524CT>C	uc002rpa.1	-	3	474	c.400_400AG>G	c.(400-402)gctfs	p.A134fs	FAM98A_uc010yne.1_Intron|FAM98A_uc010ynd.1_5'Flank|FAM98A_uc002roz.1_Frame_Shift_Del_p.A11fs	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	Homo sapiens family with sequence similarity 98, member A (FAM98A), mRNA.	134										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CCTTCTTGAGCTTTTTTTGGA	0.398												
REG1A	5967	broad.mit.edu	37	2	79349995	79349995	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:79349994_79349994TC>T	uc010ysd.2	+	3	416	c.349_349TC>T	c.(349-351)tccfs	p.S117fs	REG1A_uc002snz.3_Frame_Shift_Del_p.S117fs	NM_002909	NP_002900	P05451	REG1A_HUMAN	Homo sapiens regenerating islet-derived 1 alpha (REG1A), mRNA.	117	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						GAGCAGTGGGTCCCTGGTCTC	0.562												
RPIA	22934	broad.mit.edu	37	2	89036155	89036156	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:89036154_89036155T>TG	uc002ste.3	+	6	740_741	c.699_700T>TG	c.(697-702)tttgggfs	p.F233fs		NM_144563	NP_653164	P49247	RPIA_HUMAN	Homo sapiens ribose 5-phosphate isomerase A (RPIA), mRNA.	233					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				GCCAGAAGTTTGGGGGCGTGGT	0.569												
ZNF2	7549	broad.mit.edu	37	2	95847120	95847120	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:95847119_95847119CT>C	uc002suf.3	+	4	1008	c.546_546CT>C	c.(544-546)accfs	p.T182fs	ZNF2_uc002sug.3_Frame_Shift_Del_p.T140fs|ZNF2_uc010yue.2_Frame_Shift_Del_p.T144fs|ZNF2_uc010fhs.3_Frame_Shift_Del_p.T102fs	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	Homo sapiens zinc finger protein 2 (ZNF2), transcript variant 1, mRNA.	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		GTGGGAAGACCTTTTTTGACC	0.587												
NMS	129521	broad.mit.edu	37	2	101090004	101090004	+	Splice_Site	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:101090003_101090003TA>T	uc002tan.1	+	3	190	c.183_splice	c.e3+2	p.K61_splice		NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN	Homo sapiens neuromedin S (NMS), mRNA.	61					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CAACCTAAGGTAAAAAAatgt	0.343												
ACVR1C	130399	broad.mit.edu	37	2	158406868	158406879	+	In_Frame_Del	DEL	GTCCTTGCAATT	GTCCTTGCAATT	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:158406867_158406878CGTCCTTGCAATT>C	uc002tzk.4	-	3	814_825	c.571_582AATTGCAAGGACG>G	c.(571-582)attgcaaggacg>G	p.IART191del	ACVR1C_uc002tzl.4_In_Frame_Del_p.IART111del|ACVR1C_uc010fof.3_Intron|ACVR1C_uc010foe.3_In_Frame_Del_p.IART141del	NM_145259	NP_001104501	Q8NER5	ACV1C_HUMAN	Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA.	191	GS.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	ATP binding|activin receptor activity, type I|transforming growth factor beta receptor activity	p.T194T(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						GAAGCACAATCGTCCTTGCAATTGTCCTTTGA	0.396												
KCNH7	90134	broad.mit.edu	37	2	163693270	163693271	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:163693269_163693270A>AT	uc002uch.2	-	1	313_314	c.84_85T>AT	c.(82-87)aaatttfs	p.K28fs	KCNH7_uc002uci.3_Frame_Shift_Ins_p.K28fs	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	28					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.F29I(2)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GCAATGATAAATTTTTTATCTG	0.381												
SCN3A	6328	broad.mit.edu	37	2	166010981	166010981	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:166010980_166010980CT>C	uc002ucx.3	-	10	1854	c.1362_1362AG>G	c.(1360-1362)aagfs	p.K454fs	SCN3A_uc002ucy.3_Frame_Shift_Del_p.K454fs|SCN3A_uc002ucz.3_Frame_Shift_Del_p.K454fs|SCN3A_uc002uda.1_Frame_Shift_Del_p.K323fs|SCN3A_uc002udb.1_Frame_Shift_Del_p.K323fs	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	454						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CTTCCTGTTGCTTTTTAAGCT	0.398												
LRP2	4036	broad.mit.edu	37	2	169997025	169997026	+	Frame_Shift_Ins	INS	-	-	G	rs80338754		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:169997024_169997025T>TG	uc002ues.3	-	71	13352_13353	c.13139_13140A>CA	c.(13138-13140)ccafs	p.P4380fs		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4380	EGF-like 17.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				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)	TGCACCTGCATGGGGGGGGCAG	0.535												
COL3A1	1281	broad.mit.edu	37	2	189851835	189851837	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:189851834_189851836TAGG>T	uc002uqj.1	+	4	614_616	c.497_499TAGG>T	c.(496-501)gtagga>gTga	p.G168del		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	168	Triple-helical region.			G -> V (in Ref. 9; AA sequence).	axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGAGTAGCAGTAGGAGGACTCGC	0.394												
DNAH7	56171	broad.mit.edu	37	2	196801374	196801375	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:196801373_196801374C>CA	uc002utj.4	-	19	3322_3323	c.3221_3222G>TG	c.(3220-3222)ttgfs	p.L1074fs		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1074	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CATCATTGGACAAAAAAAAGAA	0.317												
TRAK2	66008	broad.mit.edu	37	2	202245721	202245721	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:202245720_202245720AG>A	uc002uyb.4	-	15	2737	c.2291_2291CT>T	c.(2290-2292)ctcfs	p.L764fs		NM_015049	NP_055864	O60296	TRAK2_HUMAN	Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA.	764				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GAGAGGCTGGAGGGGGTTCTC	0.517												
SLC4A3	6508	broad.mit.edu	37	2	220504282	220504282	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:220504281_220504281TG>T	uc002vmo.4	+	19	3391	c.3182_3182TG>T	c.(3181-3183)ctgfs	p.L1061fs	SLC4A3_uc002vmp.4_Frame_Shift_Del_p.L1034fs|SLC4A3_uc010fwm.3_Frame_Shift_Del_p.L584fs	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	1034	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATTGGCTCCCTGGGGGGGCTC	0.642												
RHBDD1	84236	broad.mit.edu	37	2	227729594	227729594	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:227729593_227729593CA>C	uc021vxo.1	+	3	708	c.184_184CA>C	c.(184-186)caafs	p.Q62fs	RHBDD1_uc002voi.3_Frame_Shift_Del_p.Q62fs|RHBDD1_uc010fxc.3_Frame_Shift_Del_p.Q62fs	NM_001167608	NP_115652	Q8TEB9	RHBD1_HUMAN	Homo sapiens rhomboid domain containing 1 (RHBDD1), transcript variant 2, mRNA.	62						integral to membrane	serine-type endopeptidase activity			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		GTGTTACCAGCAAAAAGACTG	0.463												
AGAP1	116987	broad.mit.edu	37	2	236649677	236649677	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr2:236649676_236649676GC>G	uc002vvs.3	+	3	978	c.380_380GC>G	c.(379-381)ggcfs	p.G127fs	AGAP1_uc002vvt.3_Frame_Shift_Del_p.G127fs|AGAP1_uc021vyp.1_Frame_Shift_Del_p.G127fs	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	127	Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	p.G127A(2)|p.G127G(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GATGAAGGGGGCCCCCCGGAG	0.488												
ACAA1	30	broad.mit.edu	37	3	38167150	38167150	+	Frame_Shift_Del	DEL	G	G	-	rs112913428		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:38167149_38167149AG>A	uc003cht.3	-	10	1313	c.1106_1106CT>T	c.(1105-1107)ctgfs	p.L369fs	ACAA1_uc003chu.3_Frame_Shift_Del_p.L276fs	NM_001607	NP_001598	P09110	THIK_HUMAN	Homo sapiens acetyl-CoA acyltransferase 1 (ACAA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	369					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		TGCACCCCCCAGGGGGTTCAC	0.622												
FBXW12	285231	broad.mit.edu	37	3	48419900	48419900	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:48419899_48419899GA>G	uc003csr.3	+	5	684	c.498_498GA>G	c.(496-498)cggfs	p.R166fs	FBXW12_uc010hjv.3_Frame_Shift_Del_p.R147fs|FBXW12_uc003css.3_Intron|FBXW12_uc010hjw.3_Frame_Shift_Del_p.R65fs|Metazoa_SRP_uc021wxm.1_5'Flank	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN	Homo sapiens F-box and WD repeat domain containing 12 (FBXW12), transcript variant 1, mRNA.	166			R -> W (in dbSNP:rs6442117).							breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTATGGATCGGAAAAAAACTA	0.488												
FLNB	2317	broad.mit.edu	37	3	58089788	58089789	+	Frame_Shift_Ins	INS	-	-	G	rs145086495		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:58089787_58089788T>TG	uc003djj.2	+	9	1750_1751	c.1585_1586T>TG	c.(1585-1587)tggfs	p.W529fs	FLNB_uc010hne.2_Frame_Shift_Ins_p.W529fs|FLNB_uc003djk.2_Frame_Shift_Ins_p.W529fs|FLNB_uc010hnf.2_Frame_Shift_Ins_p.W529fs|FLNB_uc003djl.2_Frame_Shift_Ins_p.W360fs|FLNB_uc003djm.2_Frame_Shift_Ins_p.W360fs	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	529					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGCCATCACATGGGGGGGACAC	0.594												
GPR15	2838	broad.mit.edu	37	3	98251487	98251487	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:98251486_98251486CT>C	uc011bgy.2	+	0	609	c.609_609CT>C	c.(607-609)accfs	p.T203fs		NM_005290	NP_005281	P49685	GPR15_HUMAN	Homo sapiens G protein-coupled receptor 15 (GPR15), mRNA.	203						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.T203T(2)		endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		TAATTTTCACCTTTTTTGTCC	0.448												
FAM55C	91775	broad.mit.edu	37	3	101525973	101525973	+	Splice_Site	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:101525972_101525972TA>T	uc003dvn.3	+	6	1559	c.922_splice	c.e6+2	p.E308_splice	FAM55C_uc010hpn.3_Splice_Site_p.E308_splice	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA.	308						extracellular region				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	32						GAATAAAAGGTAAAAAAAAGA	0.353												
CCDC37	348807	broad.mit.edu	37	3	126142183	126142183	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:126142182_126142182TC>T	uc010hsg.1	+	10	1159	c.1100_1100TC>T	c.(1099-1101)atcfs	p.I367fs	CCDC37_uc003eiu.1_Frame_Shift_Del_p.I366fs	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	366										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AACTCTCCCATCCCCCCCACG	0.657												
IFT122	55764	broad.mit.edu	37	3	129231234	129231234	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:129231233_129231233AC>A	uc003eml.3	+	24	3324	c.3118_3118AC>A	c.(3118-3120)accfs	p.T1040fs	IFT122_uc003emm.3_Frame_Shift_Del_p.T989fs|IFT122_uc003emn.3_Frame_Shift_Del_p.T930fs|IFT122_uc003emo.3_Frame_Shift_Del_p.T879fs|IFT122_uc003emp.3_Frame_Shift_Del_p.T839fs|IFT122_uc010htc.3_Frame_Shift_Del_p.T982fs|IFT122_uc011bky.2_Frame_Shift_Del_p.T780fs|IFT122_uc011bla.2_Frame_Shift_Del_p.T763fs|IFT122_uc003emr.3_Frame_Shift_Del_p.T742fs|IFT122_uc010hte.3_Frame_Shift_Del_p.T315fs|IFT122_uc003ems.3_Frame_Shift_Del_p.T371fs|IFT122_uc011bkx.1_Frame_Shift_Del_p.T830fs	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	989					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GCCCAAGGACACCCCCTCGGG	0.512												
ESYT3	83850	broad.mit.edu	37	3	138174135	138174140	+	In_Frame_Del	DEL	ACCTTT	ACCTTT	-	rs145657841		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:138174134_138174139GACCTTT>G	uc003esk.3	+	2	694_699	c.468_473GACCTTT>G	c.(466-474)aggaccttt>agGt	p.TF159del	ESYT3_uc010hug.2_Non-coding_Transcript	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA.	159						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						TCCACCTGAGGACCTTTACCTTTACC	0.534												
BCHE	590	broad.mit.edu	37	3	165548598	165548599	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:165548597_165548598CTG>C	uc003fem.4	-	1	384_385	c.224_225CAG>G	c.(223-225)cagfs	p.Q75fs	BCHE_uc003fen.4_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	Homo sapiens butyrylcholinesterase (BCHE), mRNA.	75					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TGGTCAGAGACTGTGGCTTTTT	0.436												
WDR49	151790	broad.mit.edu	37	3	167223102	167223102	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:167223101_167223101AT>A	uc003fev.1	-	12	2126	c.1822_1822AT>T	c.(1822-1824)tcafs	p.S608fs	WDR49_uc003feu.1_Frame_Shift_Del_p.S433fs|WDR49_uc011bpd.1_Frame_Shift_Del_p.S573fs|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	608										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TTACTGAATGATTTTTTTATA	0.274												
EIF5A2	56648	broad.mit.edu	37	3	170624844	170624844	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:170624843_170624843AT>A	uc003fhd.3	-	2	335	c.205_205AT>T	c.(205-207)tatfs	p.Y69fs		NM_020390	NP_065123	Q9GZV4	IF5A2_HUMAN	Homo sapiens eukaryotic translation initiation factor 5A2 (EIF5A2), mRNA.	69					mRNA transport|peptidyl-lysine modification to hypusine|polyamine homeostasis|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein transport|spermatogenesis|translational frameshifting|transmembrane transport	cytosol|endoplasmic reticulum membrane|nuclear pore	protein binding|ribosome binding|translation elongation factor activity	p.K68T(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15)			ATATCTTCATATTTTTTGCCC	0.338												
B3GNT5	84002	broad.mit.edu	37	3	182987674	182987674	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:182987673_182987673GT>G	uc003flm.3	+	1	610	c.87_87GT>G	c.(85-87)atgfs	p.M29fs	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003flk.3_Frame_Shift_Del_p.M29fs|B3GNT5_uc003fll.3_Frame_Shift_Del_p.M29fs|B3GNT5_uc021xic.1_Frame_Shift_Del_p.M29fs	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 (B3GNT5), mRNA.	29					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CGAGCCTCATGTTTTTTTGGG	0.353												
OSTalpha	200931	broad.mit.edu	37	3	195955038	195955038	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:195955037_195955037TG>T	uc003fwd.3	+	4	615	c.414_414TG>T	c.(412-414)tttfs	p.F138fs	OSTalpha_uc010iac.1_Frame_Shift_Del_p.F22fs|OSTalpha_uc003fwe.3_Frame_Shift_Del_p.F5fs	NM_152672	NP_689885	Q86UW1	OSTA_HUMAN	Homo sapiens organic solute transporter alpha (OSTalpha), mRNA.	138						integral to membrane|plasma membrane	transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;8.83e-25)|all cancers(36;8.38e-23)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;7.51e-07)|Lung(62;1.06e-06)	GBM - Glioblastoma multiforme(46;0.00202)		TGGAAGGCTTTGGGGGGAAGG	0.617												
IQCG	84223	broad.mit.edu	37	3	197670889	197670890	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr3:197670888_197670889C>CT	uc003fyo.3	-	2	188_189	c.42_43G>AG	c.(40-45)aaagttfs	p.K14fs	IQCG_uc003fyp.3_Frame_Shift_Ins_p.K14fs|IQCG_uc003fyq.4_Frame_Shift_Ins_p.K14fs	NM_001134435	NP_115639	Q9H095	IQCG_HUMAN	Homo sapiens IQ motif containing G (IQCG), transcript variant 2, mRNA.	14										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GAATGCCAAACTTTTGGAGGAA	0.386												
ABLIM2	84448	broad.mit.edu	37	4	8021969	8021969	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:8021968_8021968AG>A	uc003gko.3	-	11	1374	c.1231_1231CT>T	c.(1231-1233)tccfs	p.S411fs	ABLIM2_uc003gkk.3_Frame_Shift_Del_p.S74fs|ABLIM2_uc003gkl.3_Intron|ABLIM2_uc003gkm.4_Intron|ABLIM2_uc003gkp.3_Intron|ABLIM2_uc003gkq.3_Frame_Shift_Del_p.S411fs|ABLIM2_uc003gkr.3_Intron|ABLIM2_uc003gkj.4_Frame_Shift_Del_p.S444fs|ABLIM2_uc003gks.3_Intron	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.	411					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						TGGTAGGTGGAGGGGGGCGGC	0.637												
RELL1	768211	broad.mit.edu	37	4	37636682	37636682	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:37636681_37636681TC>T	uc003gsz.2	-	4	598	c.508_508GA>A	c.(508-510)acgfs	p.T170fs	RELL1_uc010ifc.3_Frame_Shift_Del_p.T170fs	NM_001085399	NP_001078869	Q8IUW5	RELL1_HUMAN	Homo sapiens RELT-like 1 (RELL1), transcript variant 2, mRNA.	170						cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane				endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						TTCCCTGGCGTCCCCCCTGGT	0.592												
KLF3	51274	broad.mit.edu	37	4	38690460	38690460	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:38690459_38690459TA>T	uc003gth.4	+	2	643	c.311_311TA>T	c.(310-312)atafs	p.I104fs	KLF3_uc003gtg.2_Frame_Shift_Del_p.I104fs	NM_016531	NP_057615	P57682	KLF3_HUMAN	Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA.	104	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						AGCCCACCGATAAAAAAATAC	0.617												
AMBN	258	broad.mit.edu	37	4	71467164	71467165	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:71467163_71467164C>CA	uc003hfl.3	+	5	424_425	c.323_324C>CA	c.(322-324)ccafs	p.P108fs		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	108					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			GTGCATCCCCCACCTCTCCCAT	0.475											OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
AFP	174	broad.mit.edu	37	4	74313372	74313372	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:74313371_74313371GA>G	uc003hgz.1	+	7	1083	c.1036_1036GA>G	c.(1036-1038)gaafs	p.E346fs	AFP_uc011cbg.1_Frame_Shift_Del_p.E120fs	NM_001134	NP_001125	P02771	FETA_HUMAN	Homo sapiens alpha-fetoprotein (AFP), mRNA.	346	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTCTTCAGGGGAAAAAAATAT	0.338									Alpha-Fetoprotein, Hereditary Persistence of			
AFM	173	broad.mit.edu	37	4	74347532	74347533	+	Frame_Shift_Ins	INS	-	-	T	rs145217978	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:74347531_74347532G>GT	uc003hhb.3	+	0	70_71	c.39_40G>GT	c.(37-42)ttgtttfs	p.L13fs		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	13					vitamin transport		vitamin E binding	p.F12L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTTTTTCTTGTTTTTTTTGAC	0.312												
SPRY1	10252	broad.mit.edu	37	4	124322834	124322835	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:124322833_124322834T>TGA	uc003ifa.3	+	1	274_275	c.87_88T>TGA	c.(85-90)tatgagfs	p.Y29fs	SPRY1_uc003ifb.3_Frame_Shift_Ins_p.Y29fs|SPRY1_uc021xro.1_Frame_Shift_Ins_p.Y29fs	NM_199327	NP_955359	O43609	SPY1_HUMAN	Homo sapiens sprouty homolog 1, antagonist of FGF signaling (Drosophila) (SPRY1), transcript variant 2, mRNA.	29					epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane		p.D28N(1)		NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						GATTAGACTATGAGAGAGAGAT	0.470												
FHDC1	85462	broad.mit.edu	37	4	153897017	153897019	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr4:153897016_153897018ATGT>A	uc003inf.2	+	10	2648_2650	c.2573_2575ATGT>A	c.(2572-2577)gatgtt>gAtt	p.V860del		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	860					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AAAAGGAAAGATGTTGTAGCACC	0.665												
RICTOR	253260	broad.mit.edu	37	5	38949500	38949500	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:38949499_38949499TC>T	uc003jlo.2	-	31	4189	c.4167_4167GA>A	c.(4165-4167)ggafs	p.G1389fs	RICTOR_uc003jlp.2_Intron|RICTOR_uc010ivf.2_Intron	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	1378					T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade	TORC2 complex|cytosol	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AGCTCCTGATTCCCCCGACAT	0.328												
CDC20B	166979	broad.mit.edu	37	5	54415630	54415630	+	Splice_Site	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:54415629_54415629CA>C	uc003jpo.2	-	11	1636	c.1459_splice	c.e11+1	p.G487_splice	CDC20B_uc003jpn.2_Intron|CDC20B_uc010ivu.2_Splice_Site_p.G445_splice	NM_001170402	NP_001163873	Q86Y33	CD20B_HUMAN	Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA.	487										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			ATTTGCTTACCAAAAAACCCA	0.458												
MARVELD2	153562	broad.mit.edu	37	5	68715357	68715357	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:68715356_68715356AC>A	uc003jwq.3	+	1	218	c.144_144AC>A	c.(142-144)ccafs	p.P48fs	MARVELD2_uc010ixf.3_Frame_Shift_Del_p.P48fs|MARVELD2_uc003jws.1_Non-coding_Transcript	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA.	48	Poly-Pro.				sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CCTTGCCACCACCCCCTCTCC	0.542												
PAPD4	167153	broad.mit.edu	37	5	78938657	78938658	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:78938656_78938657G>GT	uc010jae.1	+	7	1092_1093	c.674_675G>GT	c.(673-675)tgtfs	p.C225fs	PAPD4_uc003kgb.2_Frame_Shift_Ins_p.C225fs|PAPD4_uc010jaf.1_Frame_Shift_Ins_p.C225fs|PAPD4_uc003kga.2_Intron|PAPD4_uc003kfz.2_Frame_Shift_Ins_p.C225fs	NM_001114393	NP_776158	Q6PIY7	GLD2_HUMAN	Homo sapiens PAP associated domain containing 4 (PAPD4), transcript variant 2, mRNA.	225					RNA polyadenylation|histone mRNA catabolic process|mRNA processing	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		ACTTTTCAGTGTTTTTTTCAGG	0.302												
CDC25C	995	broad.mit.edu	37	5	137627690	137627690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:137627689_137627689CT>C	uc003lcs.1	-	7	1166	c.966_966AG>G	c.(964-966)aagfs	p.K322fs	CDC25C_uc003lcp.1_Frame_Shift_Del_p.K244fs|CDC25C_uc003lcq.1_Frame_Shift_Del_p.K171fs|CDC25C_uc003lcr.1_Frame_Shift_Del_p.K244fs|CDC25C_uc011cyp.1_Frame_Shift_Del_p.K261fs	NM_001790	NP_001781	P30307	MPIP3_HUMAN	Homo sapiens cell division cycle 25 homolog C (S. pombe) (CDC25C), transcript variant 1, mRNA.	244	Rhodanese.				DNA replication|G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	WW domain binding|protein tyrosine phosphatase activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAGAAAAATACTTTTTTTTAA	0.383												
HARS	3035	broad.mit.edu	37	5	140054656	140054658	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140054655_140054657GCTT>G	uc003lgv.3	-	10	1338_1340	c.1256_1258AAGC>C	c.(1255-1260)aagctg>aCtg	p.419_420KL>T	DND1_uc003lgt.3_5'Flank|HARS_uc003lgu.3_In_Frame_Del_p.350_351KL>T|HARS_uc011czm.2_In_Frame_Del_p.379_380KL>T|HARS_uc003lgw.3_In_Frame_Del_p.399_400KL>T|HARS_uc011czn.2_In_Frame_Del_p.359_360KL>T|HARS_uc011czo.2_In_Frame_Del_p.345_346KL>T|HARS_uc011czp.2_In_Frame_Del_p.305_306KL>T|HARS_uc011czq.2_In_Frame_Del_p.309_310KL>T	NM_002109	NP_002100	P12081	SYHC_HUMAN	Homo sapiens histidyl-tRNA synthetase (HARS), mRNA.	419					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	TCCTCTAGCAGCTTCTTCTGTGC	0.542												
PCDHAC2	56134	broad.mit.edu	37	5	140188275	140188276	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:140188274_140188275AGC>A	uc003lhi.2	+	0	1603_1604	c.1502_1503AGC>A	c.(1501-1503)gagfs	p.E501fs	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Frame_Shift_Del_p.E501fs|PCDHAC2_uc011daa.2_Frame_Shift_Del_p.E501fs	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	515	Cadherin 5.				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)			CGGGTAGGGGAGCGCGCGCTGT	0.663												
SPINK5	11005	broad.mit.edu	37	5	147473960	147473960	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:147473959_147473959CT>C	uc003lox.2	+	8	782	c.709_709CT>C	c.(709-711)cttfs	p.L237fs	SPINK5_uc010jgq.1_Non-coding_Transcript|SPINK5_uc010jgs.1_Frame_Shift_Del_p.L209fs|SPINK5_uc010jgr.2_Frame_Shift_Del_p.L218fs|SPINK5_uc003low.2_Frame_Shift_Del_p.L237fs|SPINK5_uc003loy.2_Frame_Shift_Del_p.L237fs	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	237	Kazal-like 4.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATGGAAGGCTTTTTTGTAC	0.368												
PPARGC1B	133522	broad.mit.edu	37	5	149206386	149206386	+	Frame_Shift_Del	DEL	C	C	-	rs147140005		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:149206385_149206385AC>A	uc003lrc.3	+	2	493	c.402_402AC>A	c.(400-402)gcafs	p.A134fs	PPARGC1B_uc003lrb.2_Frame_Shift_Del_p.A134fs|PPARGC1B_uc003lrd.3_Frame_Shift_Del_p.A134fs|PPARGC1B_uc021yfr.1_Frame_Shift_Del_p.A109fs|PPARGC1B_uc003lre.1_Frame_Shift_Del_p.A113fs|PPARGC1B_uc003lrf.3_Frame_Shift_Del_p.A113fs	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	134					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCTCATCTGCACCCCCCAGCC	0.617												
CSF1R	1436	broad.mit.edu	37	5	149449811	149449811	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:149449810_149449810CA>C	uc003lrl.3	-	7	1449	c.1254_1254TG>G	c.(1252-1254)ttgfs	p.L418fs	CSF1R_uc011dcd.2_Frame_Shift_Del_p.L270fs|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Frame_Shift_Del_p.L418fs	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	418	Ig-like C2-type 5.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	p.L417L(1)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	AGGCAGCACACAAAAGGGTGC	0.592												
RBM22	55696	broad.mit.edu	37	5	150072459	150072459	+	Splice_Site	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr5:150072458_150072458TG>T	uc003lst.3	-	10	1254	c.1132_splice	c.e10+1	p.G378_splice		NM_018047	NP_060517	Q9NW64	RBM22_HUMAN	Homo sapiens RNA binding motif protein 22 (RBM22), mRNA.	378	Pro-rich.				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	RNA binding|calcium-dependent protein binding|nucleotide binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAAGTTACCTGGGGGTGGGG	0.512												
GPSM3	63940	broad.mit.edu	37	6	32159230	32159230	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:32159229_32159229GC>G	uc003oay.4	-	3	799	c.397_397GC>C	c.(397-399)caafs	p.Q133fs	PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.3_5'Flank|GPSM3_uc003oaz.3_Frame_Shift_Del_p.Q133fs	NM_022107	NP_071390	Q9Y4H4	GPSM3_HUMAN	Homo sapiens G-protein signaling modulator 3 (GPSM3), mRNA.	133	GoLoco 3.				signal transduction	cytoplasm	GTPase activator activity|protein binding			large_intestine(1)	1						AGGAGCTCTTGCCCCCCTGGA	0.642												
XPO5	57510	broad.mit.edu	37	6	43491634	43491635	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:43491633_43491634A>AC	uc003ovp.3	-	31	3798_3799	c.3587_3588T>GT	c.(3586-3588)ggtfs	p.G1196fs	POLR1C_uc003ovo.2_Intron	NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	Homo sapiens exportin 5 (XPO5), mRNA.	1196					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TGGCCAGGCCACCCCCATCATT	0.485												
CDC5L	988	broad.mit.edu	37	6	44371656	44371656	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:44371655_44371655GA>G	uc003oxl.3	+	5	959	c.649_649GA>G	c.(649-651)gaafs	p.E217fs		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.	217					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AATCCCATTTGAAAAAAAGCC	0.398												
FAM135A	57579	broad.mit.edu	37	6	71185392	71185393	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:71185391_71185392A>AT	uc003pfj.3	+	4	456_457	c.323_324A>AT	c.(322-324)aatfs	p.N108fs	FAM135A_uc003pfi.3_Frame_Shift_Ins_p.N108fs|FAM135A_uc003pfh.3_Frame_Shift_Ins_p.N65fs|FAM135A_uc003pfk.3_Frame_Shift_Ins_p.N108fs|FAM135A_uc003pfl.3_5'UTR	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA.	108										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						GAGGAAATGAATTTTCTATTAT	0.287												
MCM9	254394	broad.mit.edu	37	6	119245098	119245098	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:119245097_119245097CA>C	uc021zeh.1	-	1	515	c.500_500TG>G	c.(499-501)tgcfs	p.C167fs	MCM9_uc003pyh.3_Frame_Shift_Del_p.C167fs	NM_017696	NP_060166	Q9NXL9	MCM9_HUMAN	Homo sapiens minichromosome maintenance complex component 9 (MCM9), transcript variant 1, mRNA.	167					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity	p.C167C(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		GGATGGCCGGCAAAAGGTGTA	0.478												
RNF217	154214	broad.mit.edu	37	6	125404042	125404043	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:125404041_125404042T>TA	uc003pzr.3	+	5	1416_1417	c.882_883T>TA	c.(880-885)tgtaaafs	p.C294fs	RNF217_uc003pzs.3_Frame_Shift_Ins_p.*276fs|RNF217_uc003pzt.3_Non-coding_Transcript			Q8TC41	RN217_HUMAN	Homo sapiens ring finger protein 217 (RNF217), mRNA.	104					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		ATTGCCTTTGTAAAAAACAGAG	0.366												
KIAA0408	9729	broad.mit.edu	37	6	127771252	127771253	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:127771251_127771252A>AT	uc011ebs.2	-	2	717_718	c.381_382T>AT	c.(379-384)aaatcafs	p.K127fs	KIAA0408_uc003qbc.3_Frame_Shift_Ins_p.K127fs|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qbb.3_Frame_Shift_Ins_p.K10fs	NM_014702	NP_055517	Q6ZU52	K0408_HUMAN	Homo sapiens KIAA0408 (KIAA0408), mRNA.	127							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CCTACTTTTGATTTTTTTGTTG	0.421												
PTPRK	5796	broad.mit.edu	37	6	128411122	128411123	+	Frame_Shift_Ins	INS	-	-	G	rs13219828		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr6:128411121_128411122T>TG	uc003qbk.3	-	7	1545_1546	c.1178_1179A>CA	c.(1177-1179)ccafs	p.P393fs	PTPRK_uc010kfc.3_Frame_Shift_Ins_p.P393fs|PTPRK_uc003qbj.3_Frame_Shift_Ins_p.P393fs|PTPRK_uc011ebu.2_Frame_Shift_Ins_p.P393fs|PTPRK_uc003qbl.1_Frame_Shift_Ins_p.P263fs|PTPRK_uc011ebv.1_Frame_Shift_Ins_p.P393fs	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	393	Fibronectin type-III 2.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TTAATGTCTTTGGGGTTCTCAT	0.366												
FKBP9	11328	broad.mit.edu	37	7	33014804	33014804	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:33014803_33014803TC>T	uc011kal.2	+	3	717	c.536_536TC>T	c.(535-537)atcfs	p.I179fs	AVL9_uc011kai.2_Intron|FKBP9_uc011kak.1_Non-coding_Transcript|FKBP9_uc003tdh.3_Frame_Shift_Del_p.I126fs|FKBP9_uc010kwm.3_Frame_Shift_Del_p.I33fs	NM_007270	NP_009201	O95302	FKBP9_HUMAN	Homo sapiens FK506 binding protein 9, 63 kDa (FKBP9), mRNA.	126	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAAT	0.443												
ARPP21	10777	broad.mit.edu	37	7	38313227	38313227	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:38313226_38313226AT>A	uc003tge.1	-	3	766	c.389_389AT>T	c.(388-390)atcfs	p.I130fs	ARPP21_uc003tfv.3_Intron|ARPP21_uc022abz.1_Intron|ARPP21_uc003tfz.1_Intron|ARPP21_uc003tgb.2_5'UTR|ARPP21_uc003tgc.1_5'UTR|ARPP21_uc003tgd.1_Intron|ARPP21_uc010kxi.1_Intron|ARPP21_uc003tgf.1_Non-coding_Transcript|ARPP21_uc003tgj.1_Non-coding_Transcript|ARPP21_uc003tgg.1_Non-coding_Transcript|ARPP21_uc003tgh.1_Non-coding_Transcript|ARPP21_uc003tgi.1_Non-coding_Transcript			Q9UBL0	ARP21_HUMAN	Homo sapiens TCR gamma alternate reading frame protein (TARP), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AAATACCTTGATTTTTTTGCC	0.393												
GLI3	2737	broad.mit.edu	37	7	42005573	42005573	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:42005572_42005572CG>C	uc011kbh.2	-	14	3190	c.3099_3099CG>G	c.(3097-3099)ccgfs	p.P1033fs	GLI3_uc011kbg.2_Frame_Shift_Del_p.P974fs	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1033					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGGCCATCGCCGGGGGGTTGC	0.701									Pallister-Hall syndrome;Greig Cephalopolysyndactyly			
HECW1	23072	broad.mit.edu	37	7	43590095	43590095	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:43590094_43590094GA>G	uc003tid.1	+	26	4904	c.4299_4299GA>G	c.(4297-4299)gagfs	p.E1433fs	HECW1_uc011kbi.1_Frame_Shift_Del_p.E1399fs	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1433	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGGTGACGGAGAAAAACAAGA	0.542												
POLM	27434	broad.mit.edu	37	7	44120414	44120414	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:44120413_44120413TG>T	uc003tjt.3	-	1	383	c.291_291CA>A	c.(289-291)ccafs	p.P97fs	POLM_uc003tju.3_Frame_Shift_Del_p.P97fs|POLM_uc003tjv.3_Non-coding_Transcript|POLM_uc003tjx.2_Frame_Shift_Del_p.P97fs|POLM_uc011kbt.1_5'UTR|POLM_uc003tjz.4_Frame_Shift_Del_p.P97fs|POLM_uc003tka.1_5'Flank|POLM_uc011kbu.1_Frame_Shift_Del_p.P97fs|POLM_uc010kxy.2_Frame_Shift_Del_p.P97fs	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	Homo sapiens polymerase (DNA directed), mu (POLM), mRNA.	97	BRCT.				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CCAGCAGAGCTGGGGGGGTGC	0.637								DNA polymerases (catalytic subunits)				
SUN3	256979	broad.mit.edu	37	7	48048635	48048635	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:48048634_48048634TA>T	uc003tof.3	-	4	424	c.327_327TA>A	c.(325-327)ttafs	p.L109fs	SUN3_uc010kyq.3_Frame_Shift_Del_p.L9fs|SUN3_uc003tog.3_Frame_Shift_Del_p.L109fs|SUN3_uc011kcf.2_Frame_Shift_Del_p.L97fs	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 3 (SUN3), transcript variant 2, mRNA.	109						integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCACTCACTTTAAAAGTTCCA	0.338												
CCDC132	55610	broad.mit.edu	37	7	92885827	92885827	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:92885826_92885826TA>T	uc003umo.3	+	4	431	c.303_303TA>T	c.(301-303)tctfs	p.S101fs	CCDC132_uc003ump.3_Frame_Shift_Del_p.S71fs|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Intron|CCDC132_uc003umn.3_Frame_Shift_Del_p.S101fs	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	101										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TATAGGTATCTAAAAAAGTGG	0.244												
ZCWPW1	55063	broad.mit.edu	37	7	100017294	100017294	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:100017293_100017293CT>C	uc003uut.3	-	3	490	c.242_242AG>G	c.(241-243)agafs	p.R81fs	ZCWPW1_uc011kjq.2_5'Flank|ZCWPW1_uc003uur.3_5'Flank|ZCWPW1_uc003uus.3_5'UTR|ZCWPW1_uc011kjr.2_Frame_Shift_Del_p.R80fs|ZCWPW1_uc003uuu.1_Frame_Shift_Del_p.R80fs|ZCWPW1_uc011kjt.1_Frame_Shift_Del_p.R80fs|ZCWPW1_uc011kju.1_Frame_Shift_Del_p.R80fs	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	81							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTGTGCCTTTCTTTTTTTCTC	0.453												
LRRC4	64101	broad.mit.edu	37	7	127670553	127670554	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:127670552_127670553A>AG	uc003vmk.3	-	1	278_279	c.141_142T>CT	c.(139-144)ccctccfs	p.P47fs	SND1_uc003vmi.3_Intron|SND1_uc010lle.3_Intron|LRRC4_uc022akv.1_Frame_Shift_Ins_p.P47fs	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	Homo sapiens leucine rich repeat containing 4 (LRRC4), mRNA.	47	LRRNT.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GAGCAGACGGAGGGGCAGTTCT	0.644												
BRAF	673	broad.mit.edu	37	7	140482927	140482927	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:140482926_140482926AG>A	uc003vwc.4	-	9	1270	c.1209_1209CT>T	c.(1207-1209)cctfs	p.P403fs		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	403					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		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GTAATGAGGCAGGGGGGGTAG	0.428		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			
TMEM139	135932	broad.mit.edu	37	7	142983605	142983605	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr7:142983604_142983604AC>A	uc003wcl.3	+	4	587	c.333_333AC>A	c.(331-333)ccafs	p.P111fs	CASP2_uc003wco.3_5'Flank|CASP2_uc003wcp.3_5'Flank|CASP2_uc011kta.2_5'Flank|TMEM139_uc022aoc.1_Frame_Shift_Del_p.P111fs|TMEM139_uc010lov.3_Frame_Shift_Del_p.P111fs|TMEM139_uc003wck.4_Frame_Shift_Del_p.P111fs|TMEM139_uc003wcn.3_5'UTR|TMEM139_uc022aod.1_5'UTR|TMEM139_uc003wcm.3_Frame_Shift_Del_p.P111fs	NM_001242774	NP_001229703	Q8IV31	TM139_HUMAN	Homo sapiens transmembrane protein 139 (TMEM139), transcript variant 3, mRNA.	111						integral to membrane				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					TGGACCAACCACCCCCCTACA	0.572												
TNKS	8658	broad.mit.edu	37	8	9609231	9609231	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:9609230_9609230AC>A	uc003wss.3	+	18	2949	c.2944_2944AC>A	c.(2944-2946)accfs	p.T982fs	TNKS_uc011kww.2_Frame_Shift_Del_p.T745fs|TNKS_uc010lrt.1_Non-coding_Transcript	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	982					Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		ACCAGCATCCACCCCCTCCTG	0.582												
FZD3	7976	broad.mit.edu	37	8	28385159	28385159	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:28385158_28385158AT>A	uc003xgx.3	+	4	1410	c.881_881AT>A	c.(880-882)tatfs	p.Y294fs	FZD3_uc010lvb.3_Frame_Shift_Del_p.Y294fs	NM_017412	NP_665873	Q9NPG1	FZD3_HUMAN	Homo sapiens frizzled family receptor 3 (FZD3), transcript variant 1, mRNA.	294					G-protein signaling, coupled to cGMP nucleotide second messenger|canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		ATGATACTCTATTTTTTTACT	0.418												
ANK1	286	broad.mit.edu	37	8	41573253	41573253	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:41573252_41573252AG>A	uc003xok.3	-	13	1604	c.1520_1520CT>T	c.(1519-1521)ctgfs	p.L507fs	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Frame_Shift_Del_p.L507fs|ANK1_uc003xoj.3_Frame_Shift_Del_p.L507fs|ANK1_uc003xol.3_Frame_Shift_Del_p.L507fs|ANK1_uc003xom.3_Frame_Shift_Del_p.L540fs	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	507	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGCAATGTGCAGGGGGGTGTG	0.612												
EYA1	2138	broad.mit.edu	37	8	72123392	72123392	+	Splice_Site	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr8:72123391_72123391CT>C	uc003xyu.3	-	17	2338	c.1698_splice	c.e17+1	p.K566_splice	EYA1_uc003xyt.4_Splice_Site_p.K533_splice|EYA1_uc003xyr.4_Splice_Site_p.K531_splice|EYA1_uc010lzf.3_Splice_Site_p.K493_splice|EYA1_uc003xys.4_Splice_Site_p.K566_splice|EYA1_uc011lfe.2_Splice_Site_p.K560_splice|EYA1_uc003xyv.3_Splice_Site_p.K444_splice	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	566					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GAATGCTCACCTTTTTTGCTC	0.358												
DCTN3	11258	broad.mit.edu	37	9	34618719	34618720	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:34618718_34618719T>TC	uc003zux.1	-	1	170_171	c.135_136A>GA	c.(133-138)gggaacfs	p.G45fs	DCTN3_uc003zuw.1_Frame_Shift_Ins_p.G45fs	NM_007234	NP_009165	O75935	DCTN3_HUMAN	Homo sapiens dynactin 3 (p22) (DCTN3), transcript variant 1, mRNA.	45					G2/M transition of mitotic cell cycle|cytokinesis|mitosis	centrosome|cleavage furrow|condensed chromosome kinetochore|cytosol|dynactin complex|midbody|perinuclear region of cytoplasm|spindle	protein binding|structural molecule activity			large_intestine(1)|skin(1)	2	all_epithelial(49;0.0863)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.0388)		CTGGAAATGTTCCCCAAAGCCA	0.515												
PTCH1	5727	broad.mit.edu	37	9	98209593	98209593	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:98209592_98209592AG>A	uc004avk.4	-	22	4134	c.3946_3946CT>T	c.(3946-3948)tacfs	p.Y1316fs	PTCH1_uc010mrn.3_Frame_Shift_Del_p.Y108fs|PTCH1_uc010mro.3_Frame_Shift_Del_p.Y1165fs|PTCH1_uc010mrp.3_Frame_Shift_Del_p.Y1165fs|PTCH1_uc010mrq.3_Frame_Shift_Del_p.Y1165fs|PTCH1_uc004avl.4_Frame_Shift_Del_p.Y1165fs|PTCH1_uc004avm.4_Frame_Shift_Del_p.Y1315fs|PTCH1_uc010mrr.3_Frame_Shift_Del_p.Y1250fs	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	1316					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.L1315P(6)		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)				CGCGGTCTGTAGGGGGGTGGC	0.667												
SMC2	10592	broad.mit.edu	37	9	106878506	106878507	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:106878505_106878506A>AG	uc004bbv.3	+	13	1984_1985	c.1696_1697A>AG	c.(1696-1698)aggfs	p.R566fs	SMC2_uc004bbu.1_Frame_Shift_Ins_p.R566fs|SMC2_uc004bbw.3_Frame_Shift_Ins_p.R566fs|SMC2_uc011lvl.2_Frame_Shift_Ins_p.R566fs|SMC2_uc004bbx.3_Frame_Shift_Ins_p.R566fs	NM_001042551	NP_006435	O95347	SMC2_HUMAN	Homo sapiens structural maintenance of chromosomes 2 (SMC2), transcript variant 2, mRNA.	566	Flexible hinge.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GCTACTAGAAAGGGGGGAACTG	0.351												
SVEP1	79987	broad.mit.edu	37	9	113171074	113171074	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:113171073_113171073CG>C	uc010mtz.3	-	37	7144	c.6807_6807CG>G	c.(6805-6807)ccgfs	p.P2269fs	SVEP1_uc010mty.3_Frame_Shift_Del_p.P195fs	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2269	Sushi 15.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.P2272P(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CATTCTGGATCGGGGGAGGTT	0.478												
RABGAP1	23637	broad.mit.edu	37	9	125746957	125746957	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:125746956_125746956CA>C	uc011lzh.2	+	2	477	c.343_343CA>C	c.(343-345)caafs	p.Q115fs	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc004bnm.1_Frame_Shift_Del_p.Q115fs	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	115					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AGTAGGGCTCCAAAAACCAGA	0.458												
CRB2	286204	broad.mit.edu	37	9	126129552	126129553	+	Frame_Shift_Ins	INS	-	-	G	rs138281838	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:126129551_126129552C>CG	uc004bnx.1	+	4	947_948	c.855_856C>CG	c.(853-858)tacgggfs	p.Y285fs	CRB2_uc004bnw.1_Frame_Shift_Ins_p.Y285fs	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	285	EGF-like 6.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CGGCCCTCTACGGGGGTGTCCA	0.693												
NUP214	8021	broad.mit.edu	37	9	134072669	134072671	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr9:134072668_134072670CCTT>C	uc004cag.3	+	28	3898_3900	c.3787_3789CCTT>C	c.(3787-3789)cct>C	p.P1263del	NUP214_uc004cah.3_In_Frame_Del_p.P1253del|NUP214_uc004cai.3_In_Frame_Del_p.P693del|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_In_Frame_Del_p.P89del|NUP214_uc011mcf.1_In_Frame_Del_p.P40del|NUP214_uc010mzh.1_5'UTR|NUP214_uc010mzi.1_5'UTR	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	1263	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GGGAAGCAAACCTTCTTATGAGG	0.522			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""							
PFKP	5214	broad.mit.edu	37	10	3172106	3172106	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:3172105_3172105TG>T	uc001igp.3	+	16	1854	c.1778_1778TG>T	c.(1777-1779)atgfs	p.M593fs	PFKP_uc001igq.3_Frame_Shift_Del_p.M585fs|PFKP_uc009xhr.3_Frame_Shift_Del_p.M555fs|PFKP_uc009xhs.1_Frame_Shift_Del_p.M377fs|PFKP_uc009xht.3_Frame_Shift_Del_p.M331fs|PFKP_uc009xhu.3_Frame_Shift_Del_p.M99fs	NM_002627	NP_002618	Q01813	K6PP_HUMAN	Homo sapiens phosphofructokinase, platelet (PFKP), transcript variant 1, mRNA.	593					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CTGGCCAACATGGGGGGGCTC	0.637												
OPTN	10133	broad.mit.edu	37	10	13151192	13151192	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:13151191_13151191AC>A	uc001ilu.1	+	3	507	c.69_69AC>A	c.(67-69)ggafs	p.G23fs	OPTN_uc001ilv.1_Frame_Shift_Del_p.G23fs|OPTN_uc001ilw.1_Frame_Shift_Del_p.G23fs|OPTN_uc001ilx.1_Frame_Shift_Del_p.G23fs|OPTN_uc001ily.1_Frame_Shift_Del_p.G23fs|OPTN_uc010qbr.1_5'UTR	NM_001008213	NP_068815	Q96CV9	OPTN_HUMAN	Homo sapiens optineurin (OPTN), transcript variant 4, mRNA.	23					Golgi ribbon formation|Golgi to plasma membrane protein transport|cell death|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CAGGAAATGGACCCCCCCACC	0.562												
ARID5B	84159	broad.mit.edu	37	10	63852118	63852118	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:63852117_63852117TA>T	uc001jlt.2	+	9	3351	c.2895_2895TA>T	c.(2893-2895)cctfs	p.P965fs	ARID5B_uc001jlu.2_Frame_Shift_Del_p.P722fs	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	965					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TGTCAGGCCCTAAAAAATACC	0.517												
HKDC1	80201	broad.mit.edu	37	10	71018587	71018587	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:71018586_71018586AG>A	uc001jpf.4	+	14	2220	c.2087_2087AG>A	c.(2086-2088)gagfs	p.E696fs	HKDC1_uc010qje.2_Frame_Shift_Del_p.E559fs|HKDC1_uc009xqb.3_Non-coding_Transcript	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	696					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GAGATGGTGGAGGGGGGTGAA	0.498												
PANK1	53354	broad.mit.edu	37	10	91359120	91359120	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	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												
TM9SF3	56889	broad.mit.edu	37	10	98292921	98292921	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:98292920_98292920CA>C	uc001kmm.4	-	9	1430	c.1213_1213TG>G	c.(1213-1215)gttfs	p.V405fs		NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	Homo sapiens transmembrane 9 superfamily member 3 (TM9SF3), mRNA.	405						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		GGAAGAATAACAAAAAAACAG	0.363												
PDZD7	79955	broad.mit.edu	37	10	102789811	102789812	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:102789810_102789811C>CG	uc001ksn.3	-	1	416_417	c.166_167G>CG	c.(166-168)cgcfs	p.R56fs	PDZD7_uc021pxc.1_Frame_Shift_Ins_p.R56fs|PDZD7_uc001kso.2_Frame_Shift_Ins_p.R56fs|SFXN3_uc001ksp.3_5'Flank|SFXN3_uc010qpx.2_5'Flank	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN	Homo sapiens PDZ domain containing 7 (PDZD7), transcript variant 2, mRNA.	56						cilium|nucleus	protein binding	p.R56C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		TCGGATTCCGCGGGGGGGCCCG	0.663												
NOLC1	9221	broad.mit.edu	37	10	103920580	103920582	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr10:103920579_103920581TAAG>T	uc001kup.2	+	9	1735_1737	c.1500_1502TAAG>T	c.(1498-1503)gttaag>gtTg	p.K503del	NOLC1_uc001kuo.2_In_Frame_Del_p.K493del|NOLC1_uc001kuq.2_In_Frame_Del_p.K494del|NOLC1_uc009xxb.1_In_Frame_Del_p.K212del|NOLC1_uc001kur.2_In_Frame_Del_p.K212del	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	Homo sapiens nucleolar and coiled-body phosphoprotein 1 (NOLC1), mRNA.	493	11 X 12 AA approximate repeats of an acidic serine cluster.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		AGTCTGCAGTTAAGAAGAAGCCA	0.532												
MUC2	4583	broad.mit.edu	37	11	1078269	1078269	+	Splice_Site	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:1078268_1078268CG>C	uc001lsx.1	+	5	581	c.554_splice	c.e5-1	p.G185_splice		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	185	VWFD 1.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CATCCCCAGGCGTGCTCTTCA	0.642												
OR52E8	390079	broad.mit.edu	37	11	5878011	5878012	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:5878010_5878011A>ACT	uc010qzr.2	-	0	922_923	c.922_923T>AGT	c.(922-924)gtgfs	p.V308fs	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		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)		AATCCTCAGCACTCTCTCTCGA	0.426												
OR52E8	390079	broad.mit.edu	37	11	5878222	5878223	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:5878221_5878222C>CT	uc010qzr.2	-	0	711_712	c.711_712G>AG	c.(709-714)gaagctfs	p.E237fs	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		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)		TTGAGTCGAGCTTCCCAGGAGG	0.431												
DCHS1	8642	broad.mit.edu	37	11	6662142	6662142	+	Frame_Shift_Del	DEL	G	G	-	rs143767864	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:6662141_6662141CG>C	uc001mem.1	-	1	1105	c.704_704CG>G	c.(703-705)cggfs	p.R235fs		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	235	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R235Q(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCCCTCCGGGGGGGTGA	0.587												
CTR9	9646	broad.mit.edu	37	11	10794128	10794130	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:10794127_10794129TGAA>T	uc001mja.3	+	19	2654_2656	c.2505_2507TGAA>T	c.(2503-2508)gatgaa>gaTa	p.E838del		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.	838					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GCAAACAAGATGAAGAAGAGCGG	0.463												
LRP4	4038	broad.mit.edu	37	11	46880748	46880749	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:46880747_46880748G>GC	uc001ndn.4	-	37	5747_5748	c.5504_5505C>GC	c.(5503-5505)ggcfs	p.G1835fs	LOC100507401_uc001ndl.3_Intron|LRP4_uc001ndm.4_Frame_Shift_Ins_p.G77fs	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1835					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCCGGAGGAGGCCCCCCCGTGA	0.564												
OR4P4	81300	broad.mit.edu	37	11	55406142	55406143	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:55406141_55406142A>AT	uc010rij.2	+	0	308_309	c.308_309A>AT	c.(307-309)catfs	p.H103fs		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H103L(2)|p.F105fs*4(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TTTACCACCCATTTTTTTGGAG	0.436												
OR5M3	219482	broad.mit.edu	37	11	56237709	56237709	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:56237708_56237708GT>G	uc010rjk.2	-	0	307	c.266_266AC>C	c.(265-267)acafs	p.T89fs	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					ATAAGTAATTGTTTTTTTATC	0.363												
CTNND1	1500	broad.mit.edu	37	11	57578950	57578951	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:57578949_57578950C>CA	uc001nmc.4	+	16	3200_3201	c.2629_2630C>CA	c.(2629-2631)caafs	p.Q877fs	CTNND1_uc001nlf.2_Frame_Shift_Ins_p.Q877fs|CTNND1_uc021qjk.1_Frame_Shift_Ins_p.Q871fs|CTNND1_uc001nlh.1_Frame_Shift_Ins_p.Q877fs|CTNND1_uc001nlj.4_Frame_Shift_Ins_p.Q817fs|CTNND1_uc001nlq.4_Frame_Shift_Ins_p.Q776fs|CTNND1_uc001nlr.4_Frame_Shift_Ins_p.Q817fs|CTNND1_uc001nln.4_Frame_Shift_Ins_p.Q871fs|CTNND1_uc001nli.4_Frame_Shift_Ins_p.Q871fs|CTNND1_uc001nlo.4_Frame_Shift_Ins_p.Q770fs|CTNND1_uc001nlp.4_Frame_Shift_Ins_p.Q817fs|CTNND1_uc001nlu.4_Frame_Shift_Ins_p.Q770fs|CTNND1_uc001nlt.4_Frame_Shift_Ins_p.Q770fs|CTNND1_uc001nlv.4_Frame_Shift_Ins_p.Q770fs|CTNND1_uc001nls.4_Frame_Shift_Ins_p.Q770fs|CTNND1_uc001nlw.4_Frame_Shift_Ins_p.Q770fs|CTNND1_uc001nmf.4_Frame_Shift_Ins_p.Q877fs|CTNND1_uc001nlx.4_Frame_Shift_Ins_p.Q554fs|CTNND1_uc001nlz.4_Frame_Shift_Ins_p.Q554fs|CTNND1_uc009ymn.3_Frame_Shift_Ins_p.Q548fs|CTNND1_uc001nly.4_Frame_Shift_Ins_p.Q548fs|CTNND1_uc001nmb.4_Frame_Shift_Ins_p.Q548fs|CTNND1_uc001nma.4_Frame_Shift_Ins_p.Q548fs|CTNND1_uc001nmd.4_Frame_Shift_Ins_p.Q823fs|CTNND1_uc001nlk.4_Frame_Shift_Ins_p.Q823fs|CTNND1_uc001nme.4_Frame_Shift_Ins_p.Q871fs|CTNND1_uc001nll.4_Frame_Shift_Ins_p.Q817fs|CTNND1_uc001nlm.4_Frame_Shift_Ins_p.Q871fs|CTNND1_uc001nmi.4_Frame_Shift_Ins_p.Q776fs|CTNND1_uc001nmg.4_Frame_Shift_Ins_p.Q817fs|CTNND1_uc001nmh.4_Frame_Shift_Ins_p.Q871fs	NM_001085458	NP_001078932	O60716	CTND1_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.	877					Wnt receptor signaling pathway|adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TGACCGGAACCAAAAATCAGGT	0.421												
OSBP	5007	broad.mit.edu	37	11	59369267	59369267	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:59369266_59369266AT>A	uc001noc.1	-	3	1348	c.868_868AT>T	c.(868-870)tggfs	p.W290fs	OSBP_uc009ymr.1_5'Flank	NM_002556	NP_002547	P22059	OSBP1_HUMAN	Homo sapiens oxysterol binding protein (OSBP), mRNA.	290					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GACTTTTGCCATTTTTTACTA	0.502												
CD6	923	broad.mit.edu	37	11	60777127	60777128	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:60777126_60777127A>AGT	uc001nqq.3	+	4	1089_1090	c.864_865A>AGT	c.(862-867)acagtgfs	p.T288fs	CD6_uc009yni.3_Intron|CD6_uc009ynj.3_Intron|CD6_uc001nqp.3_Frame_Shift_Ins_p.T288fs|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Frame_Shift_Ins_p.T288fs|CD6_uc001nqt.3_Frame_Shift_Ins_p.T288fs	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	288	SRCR 3.				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						TCTGGAACACAGTGTGTGACAG	0.653												
INPPL1	3636	broad.mit.edu	37	11	71948209	71948209	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:71948208_71948208GC>G	uc001osf.3	+	25	3067	c.2920_2920GC>G	c.(2920-2922)gccfs	p.A974fs	INPPL1_uc001osg.3_Frame_Shift_Del_p.A732fs	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	974	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding	p.P977fs*7(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGGGGTGGCGGCCCCCCCACC	0.632												
GAB2	9846	broad.mit.edu	37	11	77937650	77937650	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:77937649_77937649TG>T	uc001ozh.3	-	3	1171	c.1069_1069CA>A	c.(1069-1071)aagfs	p.K357fs	GAB2_uc001ozg.3_Frame_Shift_Del_p.K319fs	NM_080491	NP_036428	Q9UQC2	GAB2_HUMAN	Homo sapiens GRB2-associated binding protein 2 (GAB2), transcript variant 1, mRNA.	357					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TGACTTGGCTTGGGGGGGCGG	0.577												
GRIA4	2893	broad.mit.edu	37	11	105623740	105623740	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:105623739_105623739AT>A	uc001pix.2	+	3	726	c.280_280AT>A	c.(280-282)attfs	p.I94fs	GRIA4_uc001piu.1_Frame_Shift_Del_p.I94fs|GRIA4_uc001piw.2_Frame_Shift_Del_p.I94fs|GRIA4_uc001piv.3_Frame_Shift_Del_p.I94fs|GRIA4_uc009yxk.1_Frame_Shift_Del_p.I94fs	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	94					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	AGTATTTGCCATTTTTGGACT	0.423												
DPAGT1	1798	broad.mit.edu	37	11	118969143	118969144	+	Frame_Shift_Ins	INS	-	-	A	rs35482889		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr11:118969142_118969143G>GA	uc001pvi.3	-	4	1118_1119	c.698_699C>TC	c.(697-699)ttcfs	p.F233fs	H2AFX_uc001pvg.3_5'Flank|DPAGT1_uc001pvj.3_Frame_Shift_Ins_p.F126fs|DPAGT1_uc001pvk.3_Frame_Shift_Ins_p.F61fs|DPAGT1_uc001pvm.1_Frame_Shift_Ins_p.F126fs|DPAGT1_uc010rza.2_Frame_Shift_Ins_p.F126fs	NM_001382	NP_001373	Q9H3H5	GPT_HUMAN	Homo sapiens dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) (DPAGT1), mRNA.	233					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity|phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups	p.?(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		CCAAAGTGGTGAAAAAAAAGGG	0.441												
ALG10	84920	broad.mit.edu	37	12	34179404	34179405	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:34179403_34179404G>GT	uc001rlm.3	+	2	1294_1295	c.975_976G>GT	c.(973-978)ctgtttfs	p.L325fs		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe) (ALG10), mRNA.	325					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				GTAGAATTCTGTTTTTTGTGGT	0.322												
CCNT1	904	broad.mit.edu	37	12	49086878	49086881	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:49086877_49086880TTGTC>T	uc001rsd.4	-	8	2440_2443	c.2117_2120GACAA>A	c.(2116-2121)gacaaafs	p.D706fs	CCNT1_uc009zkz.2_Frame_Shift_Del_p.D421fs|CCNT1_uc021qxk.1_5'Flank	NM_001240	NP_001231	O60563	CCNT1_HUMAN	Homo sapiens cyclin T1 (CCNT1), mRNA.	706					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						TGGCCGGGGTTTGTCTGTATTGCC	0.456												
STAT2	6773	broad.mit.edu	37	12	56742817	56742818	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:56742816_56742817T>TG	uc001slc.3	-	16	1670_1671	c.1467_1468A>CA	c.(1465-1470)cccaagfs	p.P489fs	STAT2_uc001slb.3_Frame_Shift_Ins_p.P31fs|STAT2_uc001sld.3_Frame_Shift_Ins_p.P485fs|STAT2_uc010sqn.2_3'UTR	NM_005419	NP_005410	P52630	STAT2_HUMAN	Homo sapiens signal transducer and activator of transcription 2, 113kDa (STAT2), transcript variant 1, mRNA.	489					JAK-STAT cascade|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGGGGGCCTTGGGGGGGTTGG	0.594												
LRP1	4035	broad.mit.edu	37	12	57572242	57572243	+	Frame_Shift_Ins	INS	-	-	G	rs139915490		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:57572241_57572242C>CG	uc001snd.3	+	26	4927_4928	c.4461_4462C>CG	c.(4459-4464)tacgggfs	p.Y1487fs		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1487					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|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			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACGCTGTACGGGGGGGAGGT	0.589												
GLI1	2735	broad.mit.edu	37	12	57860075	57860075	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:57860074_57860074TG>T	uc001snx.3	+	7	908	c.814_814TG>T	c.(814-816)tggfs	p.W272fs	GLI1_uc021qzi.1_Frame_Shift_Del_p.W231fs|GLI1_uc009zpq.3_Frame_Shift_Del_p.W144fs	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	272					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTG	0.597												
DPY19L2	283417	broad.mit.edu	37	12	64055263	64055264	+	Splice_Site	INS	-	-	T	rs565018		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:64055262_64055263C>CT	uc001srp.1	-	4	632	c.451_splice	c.e4-1	p.G151_splice	DPY19L2_uc009zqk.1_Splice_Site	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	Homo sapiens dpy-19-like 2 (C. elegans) (DPY19L2), mRNA.	151					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AATAAAGTCCCTTTTTTTAAAA	0.257												
NDUFA12	55967	broad.mit.edu	37	12	95396516	95396516	+	Splice_Site	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:95396515_95396515CA>C	uc001tdl.3	-	2	224	c.169_splice	c.e2+1	p.G57_splice		NM_018838	NP_061326	Q9UI09	NDUAC_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 (NDUFA12), nuclear gene encoding mitochondrial protein, mRNA.	57					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)	CTGCACTCACCAAAAAATTGC	0.348												
USP44	84101	broad.mit.edu	37	12	95927798	95927799	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:95927797_95927798C>CA	uc001teg.3	-	1	379_380	c.235_236G>TG	c.(235-237)tgtfs	p.C79fs	USP44_uc001teh.3_Frame_Shift_Ins_p.C79fs|USP44_uc009zte.3_Frame_Shift_Ins_p.C76fs	NM_001042403	NP_115523	Q9H0E7	UBP44_HUMAN	Homo sapiens ubiquitin specific peptidase 44 (USP44), transcript variant 2, mRNA.	79					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						ACAAAGGTAACAAAAAACGTAC	0.391											OREG0022039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SDS	10993	broad.mit.edu	37	12	113835064	113835064	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:113835063_113835063TC>T	uc001tvg.3	-	5	682	c.560_560GA>A	c.(559-561)gacfs	p.D187fs	SDS_uc001tvh.1_Frame_Shift_Del_p.D187fs	NM_006843	NP_006834	P20132	SDHL_HUMAN	Homo sapiens serine dehydratase (SDS), mRNA.	187					L-serine catabolic process|gluconeogenesis|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GACAGGCACGTCCCCCCAGCC	0.657												
MSI1	4440	broad.mit.edu	37	12	120800903	120800903	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:120800902_120800902GC>G	uc001tye.1	-	5	410	c.346_346GC>C	c.(346-348)ctgfs	p.L116fs		NM_002442	NP_002433	O43347	MSI1H_HUMAN	Homo sapiens musashi homolog 1 (Drosophila) (MSI1), mRNA.	116	RRM 2.				nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCACCGACAGCCCCCCCACA	0.562												
HNF1A	6927	broad.mit.edu	37	12	121416638	121416639	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:121416637_121416638CAA>C	uc001tzg.3	+	0	89_90	c.66_67CAA>C	c.(64-69)agcaaafs	p.S22fs	HNF1A_uc021rex.1_5'UTR|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Frame_Shift_Del_p.S22fs|HNF1A_uc001tze.2_Frame_Shift_Del_p.S22fs|HNF1A_uc001tzf.3_Frame_Shift_Del_p.S22fs|HNF1A_uc010szn.2_Frame_Shift_Del_p.S22fs|HNF1A_uc021rfa.1_Frame_Shift_Del_p.S22fs|HNF1A_uc021rfb.1_5'UTR|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	22	Dimerization.				glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.L21fs*1(1)|p.?(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAGGGCTGAGCAAAGAGGCACT	0.693									Hepatic Adenoma, Familial Clustering of			
CLIP1	6249	broad.mit.edu	37	12	122773037	122773037	+	Splice_Site	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr12:122773036_122773036CT>C	uc001ucg.2	-	21	3802	c.3647_splice	c.e21+1	p.R1216_splice	CLIP1_uc001uch.1_Splice_Site_p.R1205_splice|CLIP1_uc001uci.1_Splice_Site_p.R1170_splice|CLIP1_uc001ucj.1_Splice_Site_p.R791_splice	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	1216					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GAAAGCTTACCTTTTTTTCAT	0.328												
RNF17	56163	broad.mit.edu	37	13	25363909	25363912	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:25363908_25363911AAAGT>A	uc001upr.3	+	9	976	c.935_splice	c.e9+1	p.K312_splice	RNF17_uc010tdd.1_Splice_Site_p.K171_splice|RNF17_uc010tde.2_Splice_Site_p.K312_splice|RNF17_uc010aab.3_Splice_Site|RNF17_uc001ups.3_Splice_Site_p.K251_splice|RNF17_uc001upq.1_Splice_Site_p.K312_splice	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	312					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GGGACTCAACAAAGTAAGTATTTA	0.309												
HSPH1	10808	broad.mit.edu	37	13	31715382	31715382	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:31715381_31715381CT>C	uc001utl.3	-	12	2009	c.1738_1738AG>G	c.(1738-1740)gttfs	p.V580fs	HSPH1_uc001utj.3_Frame_Shift_Del_p.V578fs|HSPH1_uc001utk.3_Frame_Shift_Del_p.V534fs|HSPH1_uc010aaw.3_Frame_Shift_Del_p.V537fs|HSPH1_uc010tds.2_Frame_Shift_Del_p.V502fs	NM_006644	NP_006635	Q92598	HS105_HUMAN	Homo sapiens heat shock 105kDa/110kDa protein 1 (HSPH1), mRNA.	578					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		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)		GGCTGGTCAACTTTTTTTTCA	0.378												
POSTN	10631	broad.mit.edu	37	13	38171342	38171342	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:38171341_38171341CT>C	uc001uwo.4	-	1	316	c.198_198AG>G	c.(196-198)aagfs	p.K66fs	POSTN_uc001uwp.4_Frame_Shift_Del_p.K66fs|POSTN_uc001uwr.3_Frame_Shift_Del_p.K66fs|POSTN_uc001uwq.3_Frame_Shift_Del_p.K66fs|POSTN_uc010teu.1_Frame_Shift_Del_p.K66fs|POSTN_uc010tev.1_Frame_Shift_Del_p.K66fs|POSTN_uc010tew.1_Frame_Shift_Del_p.K66fs|POSTN_uc010tex.1_5'UTR	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	66	EMI.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CACAGATGGACTTTTTATACC	0.393												
WBP4	11193	broad.mit.edu	37	13	41645703	41645704	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:41645702_41645703T>TA	uc001uxt.3	+	5	592_593	c.479_480T>TA	c.(478-480)ttafs	p.L160fs	WBP4_uc010tfd.2_Frame_Shift_Ins_p.L139fs	NM_007187	NP_009118	O75554	WBP4_HUMAN	Homo sapiens WW domain binding protein 4 (formin binding protein 21) (WBP4), mRNA.	160					nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		CAAGGAGACTTAAAAAAGGTAA	0.272												
RNASEH2B	79621	broad.mit.edu	37	13	51519632	51519632	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:51519631_51519631AT>A	uc001vfa.4	+	6	978	c.579_579AT>A	c.(577-579)gcafs	p.A193fs	RNASEH2B_uc001vfb.4_Frame_Shift_Del_p.A193fs	NM_024570	NP_078846	Q5TBB1	RNH2B_HUMAN	Homo sapiens ribonuclease H2, subunit B (RNASEH2B), transcript variant 1, mRNA.	193					RNA catabolic process	nucleus|ribonuclease H2 complex				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		AGTCAACTGCATTTTTCTCTG	0.408												
COL4A1	1282	broad.mit.edu	37	13	110864792	110864792	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr13:110864791_110864791TG>T	uc001vqw.4	-	5	482	c.360_360CA>A	c.(358-360)ccafs	p.P120fs		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	120					angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.P120Q(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	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)			CTGGAATACCTGGGGGGCCTG	0.458												
CDH24	64403	broad.mit.edu	37	14	23517514	23517515	+	In_Frame_Ins	INS	-	-	GGG			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:23517513_23517514C>CGGG	uc001wil.3	-	12	2395_2396	c.2135_2136G>CCCG	c.(2134-2136)ccg>cCCCG	p.P712P	CDH24_uc010akf.3_In_Frame_Ins_p.P674P	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	712					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		ggccgggcgccgggggggccgc	0.767												
STRN3	29966	broad.mit.edu	37	14	31376175	31376175	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:31376174_31376174AT>A	uc001wqu.2	-	13	2013	c.1797_1797AT>T	c.(1795-1797)aatfs	p.N599fs	STRN3_uc001wqv.2_Frame_Shift_Del_p.N515fs|STRN3_uc010tpj.1_Non-coding_Transcript	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	Homo sapiens striatin, calmodulin binding protein 3 (STRN3), transcript variant 1, mRNA.	599					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	Golgi apparatus|cytoplasm|dendrite|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		ACAGTAATTGATTTTTTATGC	0.368												
ARHGAP5	394	broad.mit.edu	37	14	32562545	32562545	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:32562544_32562544AT>A	uc001wrl.3	+	1	2908	c.2669_2669AT>A	c.(2668-2670)gatfs	p.D890fs	ARHGAP5_uc001wrm.3_Frame_Shift_Del_p.D890fs|ARHGAP5_uc001wrn.3_Frame_Shift_Del_p.D890fs|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	890					Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.D890V(2)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGCCAAGCAGATTTTTTTGAA	0.408												
KCNH5	27133	broad.mit.edu	37	14	63473193	63473193	+	Splice_Site	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:63473192_63473192TG>T	uc001xfx.3	-	3	249	c.198_splice	c.e3-1	p.S66_splice	KCNH5_uc001xfy.3_Splice_Site_p.S66_splice|KCNH5_uc001xfz.1_Splice_Site_p.S8_splice|KCNH5_uc001xga.3_Splice_Site_p.S8_splice	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	66	PAS.				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TACATAAAACTGGGGGGGAAA	0.353												
ZFP36L1	677	broad.mit.edu	37	14	69256947	69256947	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:69256946_69256946GC>G	uc021rve.1	-	2	622	c.528_528GC>C	c.(526-528)ggcfs	p.G176fs	ZFP36L1_uc001xki.2_Frame_Shift_Del_p.G107fs|ZFP36L1_uc001xkh.2_Frame_Shift_Del_p.G107fs	NM_001244701	NP_001231630	Q07352	TISB_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 1 (ZFP36L1), transcript variant 3, mRNA.	107					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I176delI(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGACCTGGCCGCCCCCGGGCT	0.672											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
YLPM1	56252	broad.mit.edu	37	14	75265533	75265533	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:75265532_75265532GA>G	uc001xqj.4	+	4	3656	c.3532_3532GA>G	c.(3532-3534)gaafs	p.E1178fs	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	983	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGATGGTGGGGAAAAAATGTA	0.517												
FOXN3	1112	broad.mit.edu	37	14	89878534	89878534	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:89878533_89878533TG>T	uc001xxo.4	-	1	425	c.288_288CA>A	c.(286-288)ccafs	p.P96fs	FOXN3_uc001xxn.4_Frame_Shift_Del_p.P96fs|FOXN3_uc010atk.3_Frame_Shift_Del_p.P96fs|FOXN3_uc001xxp.2_Frame_Shift_Del_p.P96fs	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	Homo sapiens forkhead box N3 (FOXN3), transcript variant 1, mRNA.	96					DNA damage checkpoint|G2 phase of mitotic cell cycle|embryo development|negative regulation of transcription, DNA-dependent|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|protein C-terminus 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	p.P96fs*42(2)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGGCAGGGGATGGGGGGGTGT	0.587												
C14orf102	55051	broad.mit.edu	37	14	90783061	90783061	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:90783060_90783060CT>C	uc001xyi.2	-	2	502	c.269_269AG>G	c.(268-270)aggfs	p.R90fs	C14orf102_uc001xyj.2_Intron	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	90	Lys-rich.|Poly-Lys.						protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		ctgatgcttcctttttttctt	0.398												
EVL	51466	broad.mit.edu	37	14	100594927	100594928	+	Frame_Shift_Ins	INS	-	-	C	rs150744633		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:100594926_100594927G>GC	uc001ygu.3	+	5	645_646	c.558_559G>GC	c.(556-561)ccgcccfs	p.P186fs	EVL_uc001ygt.3_Frame_Shift_Ins_p.P184fs|EVL_uc001ygv.2_Frame_Shift_Ins_p.P190fs	NM_016337	NP_057421	Q9UI08	EVL_HUMAN	Homo sapiens Enah/Vasp-like (EVL), mRNA.	184	Pro-rich.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	SH3 domain binding|actin binding|profilin binding	p.P189fs*41(1)		cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				GGcctccaccgccccccccacc	0.688												
C14orf79	122616	broad.mit.edu	37	14	105452904	105452906	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr14:105452903_105452905TCTC>T	uc001ypy.1	+	0	288_290	c.135_137TCTC>T	c.(133-138)cttctc>ctTc	p.45_46LL>L	C14orf79_uc010tym.1_Non-coding_Transcript|C14orf79_uc001ypz.1_Non-coding_Transcript	NM_174891	NP_777551	Q96F83	CN079_HUMAN	Homo sapiens chromosome 14 open reading frame 79 (C14orf79), mRNA.	45										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			GCCCCGACCTTCTCCTGTCCGAT	0.626												
TRPM1	4308	broad.mit.edu	37	15	31332552	31332552	+	Splice_Site	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:31332551_31332551TG>T	uc021sia.1	-	17	2453	c.2139_splice	c.e17-1	p.K713_splice	TRPM1_uc010azy.3_Splice_Site_p.K581_splice|TRPM1_uc001zfl.3_Splice_Site|TRPM1_uc021shz.1_Splice_Site_p.K696_splice|TRPM1_uc001zfm.3_Splice_Site_p.K674_splice	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	674					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCGAAGTCTCTGGGGGGAAAG	0.517												
LARP6	55323	broad.mit.edu	37	15	71125328	71125328	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:71125327_71125327GT>G	uc002ass.3	-	2	611	c.540_540AC>C	c.(538-540)aacfs	p.N180fs		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 6 (LARP6), transcript variant 1, mRNA.	180					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						TGCTGGGGAGGTTCTCGTTGG	0.552												
C15orf39	56905	broad.mit.edu	37	15	75500244	75500245	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:75500243_75500244G>GA	uc002azp.4	+	1	2174_2175	c.1854_1855G>GA	c.(1852-1857)ctgaaafs	p.L618fs	C15orf39_uc002azq.4_Frame_Shift_Ins_p.L618fs|C15orf39_uc021sqm.1_Frame_Shift_Ins_p.L377fs|C15orf39_uc002azr.4_Frame_Shift_Ins_p.L16fs	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.	618										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						TGCCAGGCCTGAAAAAGATAGA	0.569												
SV2B	9899	broad.mit.edu	37	15	91811750	91811750	+	Frame_Shift_Del	DEL	T	T	-	rs3743444	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr15:91811749_91811749GT>G	uc002bqv.3	+	9	2178	c.1287_1287GT>G	c.(1285-1287)gtgfs	p.V429fs	SV2B_uc002bqt.3_Frame_Shift_Del_p.V429fs|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Frame_Shift_Del_p.V278fs	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	429					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			AAATGAAGGTGTTTTTTGGTG	0.413												
AQP8	343	broad.mit.edu	37	16	25232875	25232875	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:25232874_25232874CG>C	uc002doc.3	+	2	439	c.357_357CG>C	c.(355-357)ctcfs	p.L119fs		NM_001169	NP_001160	O94778	AQP8_HUMAN	Homo sapiens aquaporin 8 (AQP8), mRNA.	119					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		CACAGCTGCTCGGGGGGATGC	0.627												
SH2B1	25970	broad.mit.edu	37	16	28883208	28883209	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:28883207_28883208G>GC	uc002dri.3	+	7	1855_1856	c.1416_1417G>GC	c.(1414-1419)ttgcccfs	p.L472fs	NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_Frame_Shift_Ins_p.L162fs|SH2B1_uc002drj.3_Frame_Shift_Ins_p.L472fs|SH2B1_uc002drk.3_Frame_Shift_Ins_p.L472fs|SH2B1_uc002drl.3_Frame_Shift_Ins_p.L472fs|SH2B1_uc010vdd.2_Frame_Shift_Ins_p.L136fs|SH2B1_uc010vde.2_Frame_Shift_Ins_p.L472fs|SH2B1_uc002drm.3_Frame_Shift_Ins_p.L472fs	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA.	472	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCCCAGAGTTGCCCCCCCGCAT	0.629												
ATP2A1	487	broad.mit.edu	37	16	28913640	28913641	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:28913639_28913640G>GC	uc002dro.1	+	16	2640_2641	c.2456_2457G>GC	c.(2455-2457)cgcfs	p.R819fs	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Frame_Shift_Ins_p.R819fs|ATP2A1_uc002drp.1_Frame_Shift_Ins_p.R694fs	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	819					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						ATCATGGACCGCCCCCCCCGGA	0.658												
NKD1	85407	broad.mit.edu	37	16	50667135	50667136	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:50667134_50667135G>GC	uc002egg.2	+	9	1079_1080	c.855_856G>GC	c.(853-858)ctgcccfs	p.L285fs		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA.	285					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGTCAGAACTGCCCCCCCGCAC	0.599												
NLRC5	84166	broad.mit.edu	37	16	57113198	57113201	+	Frame_Shift_Del	DEL	AGAT	AGAT	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:57113197_57113200CAGAT>C	uc021tiu.1	+	43	5357_5360	c.5230_5233CAGAT>C	c.(5230-5235)cagatafs	p.Q1744fs	NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_Frame_Shift_Del_p.Q286fs|NLRC5_uc002ekr.1_Frame_Shift_Del_p.Q631fs	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	1744					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)				GCTGCTCAGACAGATAGAGTAAGT	0.598												
ZFHX3	463	broad.mit.edu	37	16	72822586	72822587	+	Frame_Shift_Ins	INS	-	-	G	rs66799632		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:72822585_72822586T>TG	uc002fck.3	-	9	10262_10263	c.9589_9590A>CA	c.(9589-9591)cagfs	p.Q3197fs	ZFHX3_uc002fcl.3_Frame_Shift_Ins_p.Q2283fs	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3197	Poly-Gln.				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			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ctgctgctgctgGGGGGGTTGC	0.658												
ANKRD11	29123	broad.mit.edu	37	16	89349641	89349642	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr16:89349640_89349641C>CT	uc002fmx.1	-	8	3770_3771	c.3309_3310G>AG	c.(3307-3312)aaagatfs	p.K1103fs	ANKRD11_uc002fmy.1_Frame_Shift_Ins_p.K1103fs|ANKRD11_uc002fnc.1_Frame_Shift_Ins_p.K1103fs|ANKRD11_uc002fnb.1_Frame_Shift_Ins_p.K1060fs	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1103	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCTTGTCATCTTTTTTTTCAG	0.465												
KIAA0753	9851	broad.mit.edu	37	17	6510506	6510506	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:6510505_6510505GT>G	uc002gde.4	-	10	2274	c.1915_1915AC>C	c.(1915-1917)cagfs	p.Q639fs	KIAA0753_uc010vtd.2_Frame_Shift_Del_p.Q95fs|KIAA0753_uc010clo.3_Frame_Shift_Del_p.Q340fs|KIAA0753_uc010vte.2_Frame_Shift_Del_p.Q340fs	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	Homo sapiens KIAA0753 (KIAA0753), mRNA.	639						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		ATTTACCTCTGTTTTTGCATG	0.373												
ZBTB4	57659	broad.mit.edu	37	17	7366340	7366341	+	In_Frame_Ins	INS	-	-	TCC			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:7366339_7366340T>TTCC	uc002ghc.4	-	3	2211_2212	c.1961_1962A>GGAA	c.(1960-1962)gaa>gGGAA	p.E654G	ZBTB4_uc002ghd.4_In_Frame_Ins_p.E654G	NM_001128833	NP_065950	Q9P1Z0	ZBTB4_HUMAN	Homo sapiens zinc finger and BTB domain containing 4 (ZBTB4), transcript variant 2, mRNA.	654	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CAGCCTTTGATtcctcctcatc	0.619												
EFNB3	1949	broad.mit.edu	37	17	7612856	7612857	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:7612855_7612856G>GC	uc002gis.3	+	4	1381_1382	c.984_985G>GC	c.(982-987)gggcccfs	p.G328fs		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	Homo sapiens ephrin-B3 (EFNB3), mRNA.	328					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)				TGCAGGATGGGCCCCCCCAGAG	0.574												
ALDH3A1	218	broad.mit.edu	37	17	19641649	19641649	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:19641648_19641648CG>C	uc002gwk.3	-	7	1949	c.1686_1686CG>G	c.(1684-1686)ccgfs	p.P562fs	ALDH3A1_uc010cqu.3_Frame_Shift_Del_p.P445fs|ALDH3A1_uc010vzd.2_Frame_Shift_Del_p.P445fs|ALDH3A1_uc002gwj.3_Frame_Shift_Del_p.P445fs|ALDH3A1_uc010cqv.3_Frame_Shift_Del_p.P444fs|ALDH3A1_uc002gwl.1_Frame_Shift_Del_p.P372fs			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	445					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	TGGCCGGGCTCGGGGGGTATC	0.627												
KIAA0100	9703	broad.mit.edu	37	17	26966334	26966334	+	Splice_Site	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:26966333_26966333CT>C	uc002hbu.3	-	11	1332	c.1229_splice	c.e11+1	p.R410_splice	KIAA0100_uc002hbv.3_Frame_Shift_Del_p.R410fs	NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	410						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TCAGACTGACCTTTTTTTCCT	0.433												
MED1	5469	broad.mit.edu	37	17	37564657	37564659	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:37564656_37564658AAGG>A	uc002hrv.4	-	16	4028_4030	c.3816_3818CCTT>T	c.(3814-3819)tccttt>tcTt	p.F1273del	MED1_uc010wee.2_In_Frame_Del_p.F1101del|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	Homo sapiens mediator complex subunit 1 (MED1), mRNA.	1273	Interaction with TP53.|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|RNA polymerase II transcription cofactor activity|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|thyroid hormone receptor binding|vitamin D receptor binding	p.S1272F(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		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)		ACTTGAGGAAAAGGAGGAGGAAG	0.498										HNSCC(31;0.082)		
CDC6	990	broad.mit.edu	37	17	38449856	38449857	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:38449855_38449856CAT>C	uc002huj.1	+	4	1018_1019	c.808_809CAT>C	c.(808-810)catfs	p.H270fs		NM_001254	NP_001245	Q99741	CDC6_HUMAN	Homo sapiens cell division cycle 6 homolog (S. cerevisiae) (CDC6), mRNA.	270					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell division|mitosis|negative regulation of DNA replication|negative regulation of cell proliferation|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						ATTGGAAAAACATATGACTGCA	0.455												
BRCA1	672	broad.mit.edu	37	17	41246532	41246532	+	Frame_Shift_Del	DEL	T	T	-	rs80357911		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:41246531_41246531CT>C	uc002icq.3	-	9	1249	c.1017_1017AG>G	c.(1015-1017)aagfs	p.K339fs	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Frame_Shift_Del_p.K268fs|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Frame_Shift_Del_p.K292fs|BRCA1_uc002ict.3_Frame_Shift_Del_p.K339fs|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Frame_Shift_Del_p.K339fs|BRCA1_uc002ide.1_Frame_Shift_Del_p.K170fs|BRCA1_uc010cyy.1_Frame_Shift_Del_p.K339fs|BRCA1_uc010whs.1_Frame_Shift_Del_p.K339fs|BRCA1_uc010cyz.2_Frame_Shift_Del_p.K292fs|BRCA1_uc010cza.2_Frame_Shift_Del_p.K313fs|BRCA1_uc010wht.1_Frame_Shift_Del_p.K43fs	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	339					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCAGATCTACCTTTTTTTCTG	0.438			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)		
XYLT2	64132	broad.mit.edu	37	17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	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-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	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												
TRIM37	4591	broad.mit.edu	37	17	57134362	57134362	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:57134361_57134361AT>A	uc002iwy.4	-	12	1518	c.1074_1074AT>T	c.(1072-1074)aatfs	p.N358fs	TRIM37_uc002iwz.4_Frame_Shift_Del_p.N358fs|TRIM37_uc002ixa.4_Frame_Shift_Del_p.N236fs|TRIM37_uc010woc.2_Frame_Shift_Del_p.N324fs	NM_001005207	NP_056109	O94972	TRI37_HUMAN	Homo sapiens tripartite motif containing 37 (TRIM37), transcript variant 2, mRNA.	358	MATH.					perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CTCGAATGATATTTTTTGTAG	0.343									Mulibrey Nanism			
TANC2	26115	broad.mit.edu	37	17	61432175	61432176	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:61432174_61432175A>AT	uc002jal.4	+	11	1806_1807	c.1783_1784A>AT	c.(1783-1785)attfs	p.I595fs	TANC2_uc010wpe.2_Frame_Shift_Ins_p.I505fs|TANC2_uc002jam.1_5'UTR	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	595							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TTTCCATAGGATTTTTTTGGAT	0.431												
SLC16A6	9120	broad.mit.edu	37	17	66270150	66270151	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:66270149_66270150G>GC	uc002jha.2	-	3	607_608	c.294_295C>GC	c.(292-297)gggctafs	p.G98fs	ARSG_uc002jhc.2_Intron|SLC16A6_uc002jgz.2_Frame_Shift_Ins_p.G98fs	NM_001174166	NP_004685	O15403	MOT7_HUMAN	Homo sapiens solute carrier family 16, member 6 (monocarboxylic acid transporter 7) (SLC16A6), transcript variant 1, mRNA.	98						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CTGACAAGTAGCCCCCCCAACA	0.535												
BAHCC1	57597	broad.mit.edu	37	17	79411726	79411727	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr17:79411725_79411726G>GC	uc002kaf.2	+	6	2358_2359	c.2358_2359G>GC	c.(2356-2361)ctgcccfs	p.L786fs	BAHCC1_uc002kae.2_Frame_Shift_Ins_p.L47fs	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	848							DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			ACCAGAACCTGCCCCCCGGCTT	0.708												
L3MBTL4	91133	broad.mit.edu	37	18	6241451	6241451	+	Splice_Site	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:6241450_6241450TA>T	uc002kmz.4	-	8	621	c.461_splice	c.e8-1	p.G154_splice	L3MBTL4_uc002kmy.4_Splice_Site_p.G154_splice|L3MBTL4_uc010dkt.3_Splice_Site_p.G154_splice	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	154					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TTCTATAACCTAAAAAAAGCA	0.323												
FHOD3	80206	broad.mit.edu	37	18	34205516	34205516	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:34205515_34205515AC>A	uc021uiv.1	+	9	1096	c.999_999AC>A	c.(997-999)ccafs	p.P333fs	FHOD3_uc002kzr.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzt.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzu.1_Frame_Shift_Del_p.P158fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.P86fs	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	333	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CCACGGAGCCACCCCCCAGTG	0.677												
WDR7	23335	broad.mit.edu	37	18	54358513	54358513	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:54358512_54358512CG>C	uc002lgk.1	+	7	994	c.783_783CG>C	c.(781-783)accfs	p.T261fs	WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Frame_Shift_Del_p.T261fs	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	261								p.T261P(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AGACATGGACCGGGGGGGACT	0.418												
SERPINB2	5055	broad.mit.edu	37	18	61569682	61569682	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:61569681_61569681TA>T	uc010xeu.2	+	7	1055	c.722_722TA>T	c.(721-723)ctafs	p.L241fs	SERPINB2_uc002ljo.3_Frame_Shift_Del_p.L241fs|SERPINB2_uc002ljp.1_Frame_Shift_Del_p.L46fs|SERPINB2_uc002ljq.1_Frame_Shift_Del_p.L46fs	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	241					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CGTGAAAAGCTAAACATTGGA	0.373												
DSEL	92126	broad.mit.edu	37	18	65178798	65178798	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr18:65178797_65178797GA>G	uc002lke.1	-	1	4303	c.3079_3079TC>C	c.(3079-3081)cagfs	p.Q1027fs	DSEL_uc021ulg.1_Frame_Shift_Del_p.Q1027fs	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	1017						integral to membrane	isomerase activity|sulfotransferase activity	p.Q1027fs*4(1)		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)				AAAACTTCCTGAAAAAAATGA	0.408												
GRIN3B	116444	broad.mit.edu	37	19	1007861	1007862	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:1007860_1007861A>AC	uc002lqo.1	+	4	2204_2205	c.2204_2205A>AC	c.(2203-2205)gacfs	p.D735fs	FLJ00277_uc002lqp.1_Non-coding_Transcript	NM_138690	NP_619635	O60391	NMD3B_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA.	735					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|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			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		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)	AGCAGGAGCGACCCCCCCAAGC	0.708												
C19orf70	125988	broad.mit.edu	37	19	5679654	5679655	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:5679653_5679654C>CG	uc002mch.1	-	1	564_565	c.150_151G>CG	c.(148-153)cccgccfs	p.P50fs	C19orf70_uc002mci.1_3'UTR|HSD11B1L_uc002mcj.3_5'Flank|HSD11B1L_uc002mck.3_5'Flank|HSD11B1L_uc002mcu.3_5'Flank|HSD11B1L_uc002mcn.3_5'Flank|HSD11B1L_uc002mco.3_5'Flank|HSD11B1L_uc002mcp.3_5'Flank|HSD11B1L_uc002mcr.3_5'Flank|HSD11B1L_uc002mcq.3_5'Flank|HSD11B1L_uc010dug.3_5'Flank|HSD11B1L_uc002mct.3_5'Flank|HSD11B1L_uc002mcl.3_5'Flank	NM_205767	NP_991330	Q5XKP0	QIL1_HUMAN	Homo sapiens chromosome 19 open reading frame 70 (C19orf70), mRNA.	50							protein binding			endometrium(1)|lung(1)	2						TGGTACATGGCGGGGGGGACCA	0.663												
XAB2	56949	broad.mit.edu	37	19	7684652	7684657	+	In_Frame_Del	DEL	CTCGTC	CTCGTC	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:7684651_7684656TCTCGTC>T	uc002mgx.3	-	17	2509_2514	c.2483_2488GACGAGA>A	c.(2482-2490)gacgagatg>gAtg	p.EM829del		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	Homo sapiens XPA binding protein 2 (XAB2), mRNA.	829					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						TCCAGGTCCATCTCGTCCTCGTCCTC	0.704								Direct reversal of damage;Nucleotide excision repair (NER)				
FBN3	84467	broad.mit.edu	37	19	8193949	8193950	+	Frame_Shift_Ins	INS	-	-	G	rs60853419		TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:8193948_8193949C>CG	uc002mjf.3	-	16	2276_2277	c.2259_2260G>CG	c.(2257-2262)cccggcfs	p.P753fs		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	753	EGF-like 9; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AAGTGGAAGCCGGGGGGGCAGG	0.599												
ZNF433	163059	broad.mit.edu	37	19	12126523	12126523	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:12126522_12126522GT>G	uc002msy.1	-	3	1331	c.1160_1160AC>C	c.(1159-1161)actfs	p.T387fs	AX747405_uc002msx.1_Intron|ZNF433_uc002msz.1_Frame_Shift_Del_p.T352fs	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN	Homo sapiens zinc finger protein 433 (ZNF433), mRNA.	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						TCCAGTGTGAGTTTTTTCATG	0.388												
C19orf57	79173	broad.mit.edu	37	19	13993680	13993681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:13993679_13993680A>AG	uc002mxl.1	-	7	1908_1909	c.1849_1850T>CT	c.(1849-1851)ctgfs	p.L617fs	C19orf57_uc002mxk.1_Frame_Shift_Ins_p.L530fs	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA.	648					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			AGGGTAAGGCAGGGGGGCTTTG	0.604												
C19orf44	84167	broad.mit.edu	37	19	16628088	16628090	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:16628087_16628089TGGA>T	uc002neh.1	+	7	2022_2024	c.1949_1951TGGA>T	c.(1948-1953)ctggag>cTag	p.E652del	MED26_uc002nee.2_Intron|C19orf44_uc002neg.3_In_Frame_Del_p.E620del|C19orf44_uc010eai.1_Non-coding_Transcript	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	Homo sapiens chromosome 19 open reading frame 44 (C19orf44), mRNA.	652										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GAGGATGCCCTGGAGGAGGTGAA	0.562												
FCHO1	23149	broad.mit.edu	37	19	17887480	17887481	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:17887479_17887480G>GC	uc002nhg.3	+	17	1522_1523	c.1243_1244G>GC	c.(1243-1245)gccfs	p.A415fs	FCHO1_uc010ebb.2_Frame_Shift_Ins_p.A415fs|FCHO1_uc002nhh.2_Frame_Shift_Ins_p.A415fs|FCHO1_uc010xpw.1_Frame_Shift_Ins_p.A365fs	NM_001161357	NP_001154829	O14526	FCHO1_HUMAN	Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA.	415										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						ACCTCGGTCTGCCCCCAGAACC	0.629												
SBSN	374897	broad.mit.edu	37	19	36019046	36019047	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:36019045_36019046CCT>C	uc002oad.2	-	0	208_209	c.138_139AGG>G	c.(136-141)gaggtgfs	p.E46fs	SBSN_uc002oae.2_Frame_Shift_Del_p.E46fs|SBSN_uc021usp.1_Frame_Shift_Del_p.E46fs	NM_001166034	NP_001159506	Q6UWP8	SBSN_HUMAN	Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA.	46						extracellular region		p.E46fs*27(2)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCCTTGCCCACCTCTCTCTCTG	0.579												
SIPA1L3	23094	broad.mit.edu	37	19	38655514	38655514	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:38655513_38655513CG>C	uc002ohk.3	+	14	4684	c.4175_4175CG>C	c.(4174-4176)gcgfs	p.A1392fs		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	1392					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACGGGACTGGCGGGGGGCAGC	0.652												
RTN2	6253	broad.mit.edu	37	19	45996513	45996513	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:45996512_45996512AG>A	uc002pcb.3	-	4	1169	c.939_939CT>T	c.(937-939)cctfs	p.P313fs	RTN2_uc002pcc.3_Intron|RTN2_uc002pcd.3_Intron	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	313						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GGACAGGAGTAGGGGGGGTGG	0.572												
DMPK	1760	broad.mit.edu	37	19	46280835	46280836	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:46280834_46280835CAG>C	uc002pdi.1	-	8	1160_1161	c.974_975CTG>G	c.(973-975)ctgfs	p.L325fs	DMPK_uc010xxs.1_Frame_Shift_Del_p.L210fs|DMPK_uc002pdd.1_Frame_Shift_Del_p.L309fs|DMPK_uc002pde.1_Frame_Shift_Del_p.L309fs|DMPK_uc002pdg.1_Frame_Shift_Del_p.L299fs|DMPK_uc002pdf.1_Frame_Shift_Del_p.L299fs|DMPK_uc002pdh.1_Frame_Shift_Del_p.L299fs|DMPK_uc010xxt.1_Frame_Shift_Del_p.L299fs	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.	309	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.L325L(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CCACCAGCGGCAGAGAGAGGTG	0.668												
LMTK3	114783	broad.mit.edu	37	19	49000732	49000732	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:49000731_49000731TG>T	uc002pjk.3	-	11	3682	c.3682_3682CA>A	c.(3682-3684)aagfs	p.K1228fs		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CTCTCGGGCTTGGGGGGGTCC	0.706												
BAX	581	broad.mit.edu	37	19	49458971	49458972	+	Frame_Shift_Ins	INS	-	-	G	rs141306106	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:49458970_49458971T>TG	uc002plk.3	+	2	182_183	c.113_114T>TG	c.(112-114)atgfs	p.M38fs	BAX_uc002plf.1_Frame_Shift_Ins_p.M38fs|BAX_uc002plg.1_Frame_Shift_Ins_p.M1fs|BAX_uc002plh.1_Intron|BAX_uc010xzx.2_Non-coding_Transcript|BAX_uc002plj.3_Frame_Shift_Ins_p.M38fs|BAX_uc002pll.3_Intron|BAX_uc002plm.3_Intron	NM_138761	NP_620116	Q07812	BAX_HUMAN	Homo sapiens BCL2-associated X protein (BAX), transcript variant alpha, mRNA.	38					B cell apoptosis|DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|cleavage of lamin|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity	p.E41fs*19(1)|p.R37*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		GCAGGGCGAATGGGGGGGGAGG	0.594												
ALDH16A1	126133	broad.mit.edu	37	19	49969002	49969002	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:49969001_49969001AC>A	uc002pnt.3	+	12	1691	c.1575_1575AC>A	c.(1573-1575)gcafs	p.A525fs	ALDH16A1_uc010yar.2_Frame_Shift_Del_p.A474fs|ALDH16A1_uc010yas.2_Frame_Shift_Del_p.A360fs|ALDH16A1_uc010yat.2_Frame_Shift_Del_p.A362fs	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	Homo sapiens aldehyde dehydrogenase 16 family, member A1 (ALDH16A1), transcript variant 1, mRNA.	525							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)		CCAGCCCAGCACCCCCCTATG	0.642												
ZNF616	90317	broad.mit.edu	37	19	52619867	52619867	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr19:52619866_52619866GT>G	uc002pym.3	-	3	834	c.551_551AC>C	c.(550-552)acgfs	p.T184fs	ZNF616_uc002pyn.3_Non-coding_Transcript	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	Homo sapiens zinc finger protein 616 (ZNF616), mRNA.	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ACATACATACGTTTTTTCCCT	0.368												
DNMT3B	1789	broad.mit.edu	37	20	31375160	31375160	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:31375159_31375159AC>A	uc002wyc.3	+	5	877	c.556_556AC>A	c.(556-558)accfs	p.T186fs	DNMT3B_uc010ztx.1_Non-coding_Transcript|DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Frame_Shift_Del_p.T186fs|DNMT3B_uc002wye.3_Frame_Shift_Del_p.T186fs|DNMT3B_uc010ztz.2_Frame_Shift_Del_p.T144fs|DNMT3B_uc010zua.2_Frame_Shift_Del_p.T110fs|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Frame_Shift_Del_p.T198fs	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	186	Interaction with DNMT1 and DNMT3A.				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			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGCAGCAGTACCCCCTACGC	0.627												
CBFA2T2	9139	broad.mit.edu	37	20	32224505	32224505	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:32224504_32224504GA>G	uc002wzg.1	+	9	1851	c.1314_1314GA>G	c.(1312-1314)tggfs	p.W438fs	CBFA2T2_uc010zug.1_Frame_Shift_Del_p.W212fs|CBFA2T2_uc002wze.1_Frame_Shift_Del_p.W429fs|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Frame_Shift_Del_p.W409fs|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript|CBFA2T2_uc002wzk.1_5'Flank	NM_005093	NP_001034798	O43439	MTG8R_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), transcript variant 2, mRNA.	438						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						TGGAGTTTTGGAAAAAAACAG	0.443												
ADNP	23394	broad.mit.edu	37	20	49508146	49508146	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:49508145_49508145CT>C	uc002xvt.1	-	4	3451	c.3106_3106AG>G	c.(3106-3108)gttfs	p.V1036fs	ADNP_uc002xvu.1_Frame_Shift_Del_p.V1036fs	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN	Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.	1036						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						AACCCTTCAACTTTTCCATAG	0.448												
CTCFL	140690	broad.mit.edu	37	20	56064027	56064028	+	RNA	INS	-	-	A			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:56064026_56064027C>CA	uc010giu.3	-	3		c.656_657G>TG			CTCFL_uc010giv.3_Non-coding_Transcript			Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.						DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CAAGTTTGCACAAAAAATGCAT	0.455												
PCMTD2	55251	broad.mit.edu	37	20	62904825	62904827	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr20:62904824_62904826GGAA>G	uc002yil.4	+	5	1157_1159	c.957_959GGAA>G	c.(955-960)agggaa>agGa	p.E323del	PCMTD2_uc002yim.4_In_Frame_Del_p.E296del	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 (PCMTD2), transcript variant 1, mRNA.	323						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGGAACGGAGGGAAGAAGAAGAG	0.517												
USP16	10600	broad.mit.edu	37	21	30426506	30426508	+	In_Frame_Del	DEL	TAA	TAA	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:30426505_30426507GTAA>G	uc002ymy.3	+	17	2671_2673	c.2469_2471GTAA>G	c.(2467-2472)ctgtaa>ctGa	p.*824del	USP16_uc002ymx.3_In_Frame_Del_p.*823del|USP16_uc002ymw.3_In_Frame_Del_p.*824del|USP16_uc011acm.2_In_Frame_Del_p.*809del|USP16_uc011acn.2_In_Frame_Del_p.*490del|USP16_uc011aco.2_In_Frame_Del_p.*514del	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	Homo sapiens ubiquitin specific peptidase 16 (USP16), transcript variant 1, mRNA.	0					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.L823M(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						AGAGAATACTGTAATAATATCAA	0.340												
DOPEY2	9980	broad.mit.edu	37	21	37586452	37586453	+	Frame_Shift_Ins	INS	-	-	T	rs147590869	byFrequency	TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:37586451_37586452A>AT	uc002yvg.3	+	7	1056_1057	c.977_978A>AT	c.(976-978)tatfs	p.Y326fs	DOPEY2_uc011aeb.2_Frame_Shift_Ins_p.Y326fs	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	326					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CAGTCGTCTTATTTTTTTGAAA	0.396												
MORC3	23515	broad.mit.edu	37	21	37741943	37741945	+	In_Frame_Del	DEL	TAA	TAA	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:37741942_37741944TTAA>T	uc002yvi.3	+	14	2352_2354	c.2276_2278TTAA>T	c.(2275-2280)attaat>aTat	p.N760del		NM_015358	NP_056173	Q14149	MORC3_HUMAN	Homo sapiens MORC family CW-type zinc finger 3 (MORC3), mRNA.	760					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	PML body|aggresome|intermediate filament cytoskeleton	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CTTGAAAGTATTAATGGCAAATC	0.360												
DSCAM	1826	broad.mit.edu	37	21	41496183	41496183	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:41496182_41496182AG>A	uc002yyq.1	-	19	4088	c.3636_3636CT>T	c.(3634-3636)cctfs	p.P1212fs	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1212	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCAGCTTGAGAGGGGGAAGCC	0.552												
FTCD	10841	broad.mit.edu	37	21	47571591	47571592	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:47571590_47571591G>GC	uc002zig.3	-	4	561_562	c.517_518C>GC	c.(517-519)gccfs	p.A173fs	FTCD_uc002zif.3_Frame_Shift_Ins_p.A173fs|FTCD_uc002zih.3_Frame_Shift_Ins_p.A173fs|FTCD_uc010gqf.3_Frame_Shift_Ins_p.A173fs|FTCD_uc010gqg.1_Frame_Shift_Ins_p.A42fs			O95954	FTCD_HUMAN	Homo sapiens formiminotransferase cyclodeaminase (FTCD), transcript variant B, mRNA.	173	Formiminotransferase N-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	Golgi apparatus|centriole|cytosol	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CGTGGCCGTGGCCCCCCAACTG	0.639												
MCM3AP	8888	broad.mit.edu	37	21	47662805	47662805	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr21:47662804_47662804TA>T	uc002zir.1	-	24	5374	c.5338_5338TA>A	c.(5338-5340)aaafs	p.K1780fs	MCM3AP-AS1_uc002zim.2_Intron|MCM3AP-AS1_uc002zin.2_Intron|MCM3AP_uc002zio.1_Frame_Shift_Del_p.K275fs|MCM3AP_uc002zip.1_Frame_Shift_Del_p.K521fs|MCM3AP_uc002ziq.1_Frame_Shift_Del_p.K707fs|MCM3AP-AS1_uc002zis.1_Intron	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	1780					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.K1780fs*5(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AAATCGTTTTTAAAAAAATAC	0.438												
DDX17	10521	broad.mit.edu	37	22	38895455	38895455	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:38895454_38895454TC>T	uc003avy.4	-	2	592	c.489_489GA>A	c.(487-489)ggafs	p.G163fs	DDX17_uc003avx.4_Frame_Shift_Del_p.G163fs|DDX17_uc011anu.2_Frame_Shift_Del_p.G76fs	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	84	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.G163fs*20(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCA	0.383												
SLC25A17	10478	broad.mit.edu	37	22	41195058	41195058	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:41195057_41195057GA>G	uc003azc.3	-	1	225	c.85_85TC>C	c.(85-87)cccfs	p.P29fs	SLC25A17_uc010gyg.3_Non-coding_Transcript|SLC25A17_uc011aou.2_5'UTR|SLC25A17_uc003azd.3_Non-coding_Transcript|SLC25A17_uc011aov.2_Frame_Shift_Del_p.P29fs	NM_006358	NP_006349	O43808	PM34_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 (SLC25A17), nuclear gene encoding mitochondrial protein, mRNA.	29					fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						GTATCCAGGGGAAAAAACACT	0.363												
PLXNB2	23654	broad.mit.edu	37	22	50718147	50718147	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chr22:50718146_50718146CT>C	uc003bkv.4	-	26	4395	c.4302_4302AG>G	c.(4300-4302)aagfs	p.K1434fs	PLXNB2_uc003bkt.1_Frame_Shift_Del_p.K226fs|PLXNB2_uc003bku.1_Frame_Shift_Del_p.K419fs	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1434					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCACCGGGCCCTTTTCCACCT	0.602												
FAM47C	442444	broad.mit.edu	37	X	37028265	37028265	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:37028264_37028264TC>T	uc004ddl.2	+	0	1833	c.1781_1781TC>T	c.(1780-1782)ctcfs	p.L594fs		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	594										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTGTCCAGTCTCCCCCCGGAG	0.647												
BCORL1	63035	broad.mit.edu	37	X	129190011	129190011	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7851-01A-11D-2201-08	TCGA-BR-7851-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92f7feb-3623-4ccd-8cc1-e27f757f9b21	8c961372-743b-47d3-9bdf-0c75927bc4bb	g.chrX:129190010_129190010TC>T	uc022cdu.1	+	11	5079	c.5035_5035TC>T	c.(5035-5037)tccfs	p.S1679fs	BCORL1_uc004evc.2_Frame_Shift_Del_p.S515fs	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	1679					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGACGACAGATCCCCCCCAGG	0.607