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
AGRN	375790	broad.mit.edu	37	1	989920	989920	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:989920C>T	uc001ack.1	+	35	6019	c.5969C>T	c.(5968-5970)GCC>GTC	p.A1990V		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	1990	Laminin G-like 3.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		ACTGATGGAGCCCTGTGGCTT	0.642												
MXRA8	54587	broad.mit.edu	37	1	1290438	1290438	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:1290438G>A	uc001aew.2	-	5	604	c.573C>T	c.(571-573)CAC>CAT	p.H191H	MXRA8_uc001aex.3_Silent_p.H191H|MXRA8_uc001aey.3_Silent_p.H191H|MXRA8_uc010nyl.1_Silent_p.H191H|MXRA8_uc001aez.2_Silent_p.H90H|MXRA8_uc001afa.2_Silent_p.H182H	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8 precursor	191	Ig-like V-type 2.|Extracellular (Potential).					integral to membrane					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CGGTCCACACGTGCCCGCGGT	0.657												
MEGF6	1953	broad.mit.edu	37	1	3418428	3418428	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:3418428G>C	uc001akl.2	-	18	2473	c.2246C>G	c.(2245-2247)GCC>GGC	p.A749G	MEGF6_uc001akk.2_Missense_Mutation_p.A644G	NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	749	EGF-like 12.					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)		GTGGCAGGGGGCCCCCCCACA	0.697												
NPHP4	261734	broad.mit.edu	37	1	6038351	6038351	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:6038351C>T	uc001alq.1	-	3	524	c.258G>A	c.(256-258)CCG>CCA	p.P86P	NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_Intron	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	86					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CGATCCTGGACGGCGGTCTCT	0.592												
CHD5	26038	broad.mit.edu	37	1	6184676	6184676	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:6184676C>T	uc001amb.1	-	30	4540	c.4440G>A	c.(4438-4440)GCG>GCA	p.A1480A	CHD5_uc001alz.1_Silent_p.A337A|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	1480					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)		CTGCACCATCCGCCCCCGGCT	0.677												
NOL9	79707	broad.mit.edu	37	1	6586028	6586028	+	Silent	SNP	C	C	T	rs146670350		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:6586028C>T	uc001ans.2	-	12	2014	c.1995G>A	c.(1993-1995)ACG>ACA	p.T665T	NOL9_uc010nzs.1_RNA	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	665					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			skin(1)	1	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		AATTGTAATCCGTTGTGACAT	0.468												
CAMTA1	23261	broad.mit.edu	37	1	7725039	7725039	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:7725039G>A	uc001aoi.2	+	9	2639	c.2432G>A	c.(2431-2433)CGG>CAG	p.R811Q		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	811					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GACGGGGCGCGGGCCCCCTTC	0.687												
RERE	473	broad.mit.edu	37	1	8420188	8420188	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:8420188C>T	uc001ape.2	-	19	4189	c.3379G>A	c.(3379-3381)GCC>ACC	p.A1127T	RERE_uc001apf.2_Missense_Mutation_p.A1127T|RERE_uc010nzx.1_Missense_Mutation_p.A859T|RERE_uc001apd.2_Missense_Mutation_p.A573T	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1127					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GACTGGCTGGCGTGACTGGGG	0.697												
ZBTB17	7709	broad.mit.edu	37	1	16268632	16268632	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:16268632C>T	uc001axl.3	-	16	2483	c.2244G>A	c.(2242-2244)CAG>CAA	p.Q748Q	ZBTB17_uc010obq.1_Silent_p.Q665Q|ZBTB17_uc010obr.1_Silent_p.Q755Q|ZBTB17_uc010obs.1_Silent_p.Q672Q	NM_003443	NP_003434	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	748	Interaction with HCFC1.				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CCGCGTCTGTCTGGAACATGA	0.632												
CROCC	9696	broad.mit.edu	37	1	17281945	17281945	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:17281945C>T	uc001azt.2	+	24	3673	c.3604C>T	c.(3604-3606)CGA>TGA	p.R1202*	CROCC_uc001azu.2_Nonsense_Mutation_p.R505*	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	1202	Potential.				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)		AGGCGAGCTGCGACGCAGCCT	0.706												
RCC2	55920	broad.mit.edu	37	1	17747226	17747226	+	Silent	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:17747226A>G	uc001bal.2	-	6	890	c.843T>C	c.(841-843)CCT>CCC	p.P281P	RCC2_uc001bam.2_Silent_p.P281P	NM_001136204	NP_001129676	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	281	RCC1 4.				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle					0		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		GACCATATTCAGGGCACCCAA	0.428												
HSPG2	3339	broad.mit.edu	37	1	22174254	22174254	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:22174254G>A	uc001bfj.2	-	61	7993	c.7953C>T	c.(7951-7953)TGC>TGT	p.C2651C	HSPG2_uc009vqd.2_Silent_p.C2652C	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	2651	Ig-like C2-type 12.				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)	TGGCGACCACGCAGTTCAGAT	0.647												
GRHL3	57822	broad.mit.edu	37	1	24669458	24669458	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:24669458G>A	uc001biy.2	+	11	1423	c.1377G>A	c.(1375-1377)ACG>ACA	p.T459T	GRHL3_uc001bix.2_Silent_p.T454T|GRHL3_uc001biz.2_Silent_p.T361T	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	454					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		ACCTGGAGACGCCACCCGTGC	0.632												
FGR	2268	broad.mit.edu	37	1	27949552	27949552	+	Splice_Site	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:27949552C>T	uc001boj.2	-	2	475	c.329_splice	c.e2+1	p.T110_splice	FGR_uc001bok.2_Splice_Site_p.T110_splice|FGR_uc001bol.2_Splice_Site_p.T110_splice|FGR_uc001bom.2_Splice_Site_p.T110_splice	NM_005248	NP_005239	P09769	FGR_HUMAN	proto-oncogene tyrosine-protein kinase FGR						platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			skin(2)	2		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGGTCACTTACGTATTGTTCA	0.333												
LAPTM5	7805	broad.mit.edu	37	1	31208095	31208095	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:31208095G>T	uc001bsc.2	-	7	715	c.624C>A	c.(622-624)TGC>TGA	p.C208*		NM_006762	NP_006753	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	208					transport	integral to plasma membrane|lysosomal membrane					0		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		ACCGCCACACGCACTTGAACA	0.537												
COL16A1	1307	broad.mit.edu	37	1	32145288	32145288	+	Splice_Site	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:32145288T>C	uc001btk.1	-	42	3084	c.2719_splice	c.e42-1	p.G907_splice	COL16A1_uc001btj.1_Splice_Site_p.G720_splice|COL16A1_uc001btl.3_Intron	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor						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)		TGGTGGACCCTGAGGGAGAGA	0.622												
C1orf94	84970	broad.mit.edu	37	1	34663184	34663184	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:34663184C>T	uc001bxs.3	+	2	508	c.109C>T	c.(109-111)CGC>TGC	p.R37C	C1orf94_uc001bxt.2_Missense_Mutation_p.R227C	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN	hypothetical protein LOC84970 isoform b	37							protein binding				0		Myeloproliferative disorder(586;0.0393)				GGACAGGGGCCGCATCCTAGG	0.542												
NCDN	23154	broad.mit.edu	37	1	36024729	36024729	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:36024729G>A	uc001bza.2	+	3	182	c.55G>A	c.(55-57)GCC>ACC	p.A19T	KIAA0319L_uc001byx.2_5'Flank|KIAA0319L_uc010ohw.1_5'Flank|KIAA0319L_uc001byz.2_5'Flank|KIAA0319L_uc010ohx.1_5'Flank|NCDN_uc001bzb.2_Missense_Mutation_p.A19T|NCDN_uc001bzc.2_Missense_Mutation_p.A2T	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN	neurochondrin isoform 1	19					neuron projection development	cytosol|dendrite|neuronal cell body				large_intestine(2)|pancreas(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAGCATCATGGCCTCGGATTG	0.488												
EIF2C4	192670	broad.mit.edu	37	1	36307280	36307280	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:36307280C>T	uc001bzj.1	+	15	2294	c.2104C>T	c.(2104-2106)CCA>TCA	p.P702S		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	eukaryotic translation initiation factor 2C, 4	702	Piwi.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGATTACCGGCCAGGAATAAC	0.353												
EIF2C1	26523	broad.mit.edu	37	1	36358210	36358210	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:36358210C>T	uc001bzl.2	+	3	475	c.262C>T	c.(262-264)CGC>TGC	p.R88C	EIF2C1_uc001bzk.2_Missense_Mutation_p.R13C|EIF2C1_uc009vuy.2_5'Flank	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	88					negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTTTGGTGATCGCAAGCCTGT	0.517												
EIF2C3	192669	broad.mit.edu	37	1	36432609	36432609	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:36432609G>A	uc001bzp.2	+	3	501	c.245G>A	c.(244-246)CGT>CAT	p.R82H	EIF2C3_uc001bzn.1_Missense_Mutation_p.R82H|EIF2C3_uc001bzo.2_RNA|EIF2C3_uc001bzq.2_Intron	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	eukaryotic translation initiation factor 2C, 3	82					mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTTGGAGACCGTAGACCAGTT	0.383												
MFSD2A	84879	broad.mit.edu	37	1	40433301	40433301	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:40433301T>G	uc001cev.2	+	10	1233	c.1052T>G	c.(1051-1053)CTC>CGC	p.L351R	MFSD2A_uc010ojb.1_Missense_Mutation_p.L299R|MFSD2A_uc001ceu.2_Missense_Mutation_p.L338R|MFSD2A_uc010ojc.1_Missense_Mutation_p.L182R|MFSD2A_uc009vvy.2_Intron|MFSD2A_uc001cex.2_Missense_Mutation_p.L2R	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing	351	Helical; (Potential).				transmembrane transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)|pancreas(1)	2						CATCCACAGCTCTCGGCCACT	0.557												
KIAA0467	23334	broad.mit.edu	37	1	43903494	43903494	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:43903494C>T	uc001cjk.1	+	31	4194	c.3732C>T	c.(3730-3732)AGC>AGT	p.S1244S		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2143						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGTCTCTAGCCGCAGTTCAG	0.577												
B4GALT2	8704	broad.mit.edu	37	1	44447558	44447558	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:44447558C>T	uc001clg.2	+	3	881	c.511C>T	c.(511-513)CGG>TGG	p.R171W	B4GALT2_uc001clh.2_Missense_Mutation_p.R105W|B4GALT2_uc010okl.1_Missense_Mutation_p.R200W|B4GALT2_uc001cli.2_Missense_Mutation_p.R171W	NM_003780	NP_003771	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	171	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CATCTTGAGGCGGCAGCGGCT	0.612												
TMEM53	79639	broad.mit.edu	37	1	45120723	45120723	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:45120723G>A	uc001cmc.2	-	3	378	c.342C>T	c.(340-342)AAC>AAT	p.N114N	TMEM53_uc001cmb.1_Intron|TMEM53_uc001cmd.2_Silent_p.N41N|TMEM53_uc009vxh.1_Translation_Start_Site|TMEM53_uc010ola.1_Translation_Start_Site	NM_024587	NP_078863	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	114						integral to membrane				ovary(2)	2	Acute lymphoblastic leukemia(166;0.155)					TGACGCCACCGTTGCTGAAGA	0.577											OREG0013446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
HPDL	84842	broad.mit.edu	37	1	45793721	45793721	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:45793721G>T	uc001cne.2	+	1	1177	c.901G>T	c.(901-903)GGG>TGG	p.G301W		NM_032756	NP_116145	Q96IR7	HPDL_HUMAN	glyoxalase domain containing 1	301					aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding				0	Acute lymphoblastic leukemia(166;0.155)					CCGAGCTGCAGGGCACGAGCC	0.582												
NASP	4678	broad.mit.edu	37	1	46073759	46073759	+	Silent	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:46073759T>C	uc001coi.1	+	6	1278	c.1176T>C	c.(1174-1176)ATT>ATC	p.I392I	NASP_uc010olq.1_Silent_p.I355I|NASP_uc001coh.1_Silent_p.I394I|NASP_uc001coj.1_Intron|NASP_uc010olr.1_Silent_p.I328I|NASP_uc001cok.1_Silent_p.I275I	NM_002482	NP_002473	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein isoform 2	392	Glu-rich (acidic).				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AGACTCCTATTGAACCACAGA	0.493												
GPX7	2882	broad.mit.edu	37	1	53074041	53074041	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:53074041C>A	uc001cue.2	+	3	547	c.508C>A	c.(508-510)CCC>ACC	p.P170T		NM_015696	NP_056511	Q96SL4	GPX7_HUMAN	glutathione peroxidase 7 precursor	170					response to oxidative stress	extracellular region	glutathione peroxidase activity				0					Glutathione(DB00143)	GGAGGTCAGACCCCAGATCAC	0.577												
FAM151A	338094	broad.mit.edu	37	1	55075579	55075579	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:55075579C>T	uc001cxn.2	-	8	1252	c.1120G>A	c.(1120-1122)GAG>AAG	p.E374K	ACOT11_uc001cxj.1_3'UTR|ACOT11_uc001cxl.1_3'UTR|ACOT11_uc001cxm.1_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	hypothetical protein LOC338094	374						integral to membrane					0						ACAGTTCCCTCGAGGCCAGTG	0.547												
TMEM61	199964	broad.mit.edu	37	1	55457540	55457540	+	Missense_Mutation	SNP	G	G	A	rs142872695		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:55457540G>A	uc001cyd.2	+	3	671	c.397G>A	c.(397-399)GAG>AAG	p.E133K		NM_182532	NP_872338	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	133						integral to membrane					0						CCCCACTTACGAGGAAGCCGT	0.627												
JAK1	3716	broad.mit.edu	37	1	65335080	65335080	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:65335080G>A	uc001dbu.1	-	6	810	c.561C>T	c.(559-561)AAC>AAT	p.N187N	JAK1_uc009wam.1_Silent_p.N175N	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	187	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61				BRCA - Breast invasive adenocarcinoma(111;0.0485)		CTAGACACTCGTTCTCAATAT	0.512			Mis		ALL							
IL12RB2	3595	broad.mit.edu	37	1	67861543	67861543	+	Missense_Mutation	SNP	C	C	T	rs141507006		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:67861543C>T	uc001ddu.2	+	16	3000	c.2360C>T	c.(2359-2361)ACG>ATG	p.T787M	IL12RB2_uc010oqi.1_3'UTR|IL12RB2_uc010oqj.1_3'UTR|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.T701M|IL12RB2_uc010oqm.1_3'UTR|IL12RB2_uc010oqn.1_RNA	NM_001559	NP_001550	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2 precursor	787	Cytoplasmic (Potential).				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3						TGTCCCTGGACGGTGCTCCCA	0.582												
SERBP1	26135	broad.mit.edu	37	1	67895978	67895978	+	Silent	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:67895978A>G	uc001ddv.2	-	1	146	c.6T>C	c.(4-6)CCT>CCC	p.P2P	SERBP1_uc001ddx.2_Silent_p.P2P|SERBP1_uc001ddy.2_Silent_p.P2P|SERBP1_uc001ddw.2_Silent_p.P2P	NM_001018067	NP_001018077	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1 isoform 1	2					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			skin(1)	1						GTAAGTGCCCAGGCATGATGG	0.632												
LRRC7	57554	broad.mit.edu	37	1	70504915	70504915	+	Silent	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:70504915G>T	uc001dep.2	+	19	3324	c.3294G>T	c.(3292-3294)GTG>GTT	p.V1098V	LRRC7_uc009wbg.2_Silent_p.V382V|LRRC7_uc001deq.2_Silent_p.V339V	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1098						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						AGGATGCTGTGGTGAATGCCC	0.527												
CTH	1491	broad.mit.edu	37	1	70877194	70877194	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:70877194G>A	uc001dfd.2	+	1	240	c.96G>A	c.(94-96)TGG>TGA	p.W32*	CTH_uc009wbl.1_RNA|CTH_uc001dfe.2_Nonsense_Mutation_p.W32*|CTH_uc010oqq.1_Nonsense_Mutation_p.W32*	NM_001902	NP_001893	P32929	CGL_HUMAN	cystathionase isoform 1	32					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding			lung(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CAGAGCAATGGACCTCCAGGG	0.602												
NEXN	91624	broad.mit.edu	37	1	78395171	78395171	+	Silent	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:78395171T>C	uc001dic.3	+	9	1332	c.1035T>C	c.(1033-1035)GCT>GCC	p.A345A	NEXN_uc001dia.3_Silent_p.A331A|NEXN_uc009wcb.1_Silent_p.A267A|NEXN_uc001dib.3_Silent_p.A281A|NEXN_uc001did.1_Silent_p.A255A|NEXN_uc001dif.1_Silent_p.A237A	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	345	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			ovary(2)	2				Colorectal(170;0.114)		agGCGTTTGCTGAAGCAAGGA	0.194												
FUBP1	8880	broad.mit.edu	37	1	78428529	78428529	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:78428529T>C	uc001dii.2	-	14	1359	c.1270A>G	c.(1270-1272)ATG>GTG	p.M424V	FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Missense_Mutation_p.M445V	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	far upstream element-binding protein	424	KH 4.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3						AATAACTTCATATTAGGATCT	0.363												
PRKACB	5567	broad.mit.edu	37	1	84650786	84650786	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:84650786A>G	uc001djj.2	+	5	604	c.340A>G	c.(340-342)AAT>GAT	p.N114D	PRKACB_uc001djl.2_Missense_Mutation_p.N161D|PRKACB_uc010ort.1_Missense_Mutation_p.N121D|PRKACB_uc001djn.2_Missense_Mutation_p.N118D|PRKACB_uc010oru.1_Missense_Mutation_p.N102D|PRKACB_uc001djp.2_Missense_Mutation_p.N120D|PRKACB_uc001djq.2_Missense_Mutation_p.N84D|PRKACB_uc010orv.1_Missense_Mutation_p.N101D|PRKACB_uc001dji.2_Missense_Mutation_p.N114D|PRKACB_uc001djk.2_Missense_Mutation_p.N161D|PRKACB_uc009wcf.1_Missense_Mutation_p.N120D	NM_002731	NP_002722	P22694	KAPCB_HUMAN	cAMP-dependent protein kinase catalytic subunit	114	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			lung(2)|ovary(1)	3				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TTCATAGGATAATTCTAATTT	0.274												
ZNHIT6	54680	broad.mit.edu	37	1	86173931	86173931	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:86173931C>A	uc001dlh.2	-	1	171	c.37G>T	c.(37-39)GGA>TGA	p.G13*	ZNHIT6_uc010osc.1_Nonsense_Mutation_p.G13*	NM_017953	NP_060423	Q9NWK9	BCD1_HUMAN	zinc finger, HIT type 6	13					box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			large_intestine(1)	1						TGGAGACCTCCCCCAGACTTC	0.587												
GBP6	163351	broad.mit.edu	37	1	89847424	89847424	+	Missense_Mutation	SNP	C	C	T	rs141648455	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:89847424C>T	uc001dnf.2	+	7	1317	c.1043C>T	c.(1042-1044)ACG>ATG	p.T348M	GBP6_uc010ost.1_Missense_Mutation_p.T218M	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	348							GTP binding|GTPase activity			ovary(2)	2		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		CCCACAGACACGCTCCAGGAG	0.567												
AGL	178	broad.mit.edu	37	1	100353617	100353617	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:100353617G>A	uc001dsi.1	+	21	3165	c.2765G>A	c.(2764-2766)TGC>TAC	p.C922Y	AGL_uc001dsj.1_Missense_Mutation_p.C922Y|AGL_uc001dsk.1_Missense_Mutation_p.C922Y|AGL_uc001dsl.1_Missense_Mutation_p.C922Y|AGL_uc001dsm.1_Missense_Mutation_p.C906Y|AGL_uc001dsn.1_Missense_Mutation_p.C905Y	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	922	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GGTGGAGGGTGCTATGACATA	0.408												
SLC35A3	23443	broad.mit.edu	37	1	100480939	100480939	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:100480939G>A	uc001dsp.1	+	6	913	c.716G>A	c.(715-717)GGA>GAA	p.G239E	SLC35A3_uc001dsq.1_Missense_Mutation_p.G239E|SLC35A3_uc009wdy.1_Intron|SLC35A3_uc001dsr.1_Missense_Mutation_p.G281E|SLC35A3_uc001dss.1_Missense_Mutation_p.G158E	NM_012243	NP_036375	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 member 3A	239					UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity				0		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		TTTTTTCAGGGATATAACCGA	0.294												
S1PR1	1901	broad.mit.edu	37	1	101705604	101705604	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:101705604C>T	uc001dud.2	+	2	1578	c.1064C>T	c.(1063-1065)TCG>TTG	p.S355L	S1PR1_uc009weg.2_Missense_Mutation_p.S355L	NM_001400	NP_001391	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	355	Cytoplasmic (By similarity).				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)	3						CGCAGCAAATCGGACAATTCC	0.537												
OLFM3	118427	broad.mit.edu	37	1	102270106	102270106	+	Silent	SNP	G	G	A	rs144970574	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:102270106G>A	uc001duf.2	-	6	1196	c.1125C>T	c.(1123-1125)AAC>AAT	p.N375N	OLFM3_uc001dug.2_Silent_p.N355N|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Silent_p.N280N|OLFM3_uc001due.2_RNA	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	olfactomedin 3	375	Olfactomedin-like.					extracellular region				ovary(2)|skin(1)	3		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AGGTATCTTGGTTAAGTTGGC	0.483												
COL11A1	1301	broad.mit.edu	37	1	103345259	103345259	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:103345259T>C	uc001dul.2	-	66	5572	c.5254A>G	c.(5254-5256)ACA>GCA	p.T1752A	COL11A1_uc001duk.2_Missense_Mutation_p.T948A|COL11A1_uc001dum.2_Missense_Mutation_p.T1764A|COL11A1_uc001dun.2_Missense_Mutation_p.T1713A|COL11A1_uc009weh.2_Missense_Mutation_p.T1636A	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1752	Fibrillar collagen NC1.				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)		TCATACAGTGTTTTGATAAAA	0.438												
SLC25A24	29957	broad.mit.edu	37	1	108681756	108681756	+	Silent	SNP	G	G	A	rs144919358		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:108681756G>A	uc001dvn.3	-	9	1387	c.1173C>T	c.(1171-1173)TGC>TGT	p.C391C	SLC25A24_uc001dvm.2_Silent_p.C372C	NM_013386	NP_037518	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 member 24 isoform 1	391	Solcar 3.|Helical; Name=5; (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			ovary(1)	1		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		ATAAGGCACCGCATCCCAGCA	0.463												
SORT1	6272	broad.mit.edu	37	1	109857386	109857386	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:109857386A>C	uc001dxm.1	-	18	2314	c.2265T>G	c.(2263-2265)AAT>AAG	p.N755K	SORT1_uc010ovi.1_Missense_Mutation_p.N618K	NM_002959	NP_002950	Q99523	SORT_HUMAN	sortilin 1 preproprotein	755	Interactions with LRPAP1 and NGFB.|Extracellular (Potential).				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			ovary(1)	1		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TTGGAACAGAATTTGACTTGG	0.438												
RHOC	389	broad.mit.edu	37	1	113245673	113245673	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:113245673C>T	uc001ecp.1	-	4	525	c.225G>A	c.(223-225)CCG>CCA	p.P75P	RHOC_uc001ecq.1_Silent_p.P75P|RHOC_uc001ecr.1_Silent_p.P75P|RHOC_uc009wgk.1_Silent_p.P75P	NM_001042679	NP_001036144	P08134	RHOC_HUMAN	ras homolog gene family, member C precursor	75					axon guidance|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|signal transducer activity			ovary(1)	1	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATCAGTGTCCGGGTAGGAGA	0.602												
AMPD1	270	broad.mit.edu	37	1	115217434	115217434	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:115217434G>A	uc001efe.1	-	13	1823	c.1739C>T	c.(1738-1740)ACC>ATC	p.T580I	AMPD1_uc001eff.1_Missense_Mutation_p.T576I	NM_000036	NP_000027	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1 (isoform M)	580					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|large_intestine(1)|skin(1)	4	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CATGAGATGGGTGAGGGCTCC	0.453												
WARS2	10352	broad.mit.edu	37	1	119575735	119575735	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:119575735G>A	uc001ehn.2	-	6	910	c.882C>T	c.(880-882)AGC>AGT	p.S294S	WARS2_uc010oxf.1_Silent_p.S200S|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Silent_p.S237S|WARS2_uc010oxh.1_3'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	294					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity				0	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	TCATGCCCGCGCTGCGGCGCA	0.597												
ANKRD35	148741	broad.mit.edu	37	1	145561338	145561338	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:145561338G>A	uc001eob.1	+	10	1134	c.1026G>A	c.(1024-1026)CAG>CAA	p.Q342Q	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Silent_p.Q185Q	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	342	Potential.									ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGCAGGCGCAGGAGCTAGGGG	0.572												
CHD1L	9557	broad.mit.edu	37	1	146757977	146757977	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:146757977T>C	uc001epm.3	+	18	2084	c.2021T>C	c.(2020-2022)ATG>ACG	p.M674T	uc001epp.2_Intron|CHD1L_uc001epn.3_Missense_Mutation_p.M561T|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Missense_Mutation_p.M580T|CHD1L_uc010ozp.1_Missense_Mutation_p.M393T|CHD1L_uc001epo.3_Missense_Mutation_p.M470T|CHD1L_uc009wji.2_Missense_Mutation_p.M393T	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein	674	Potential.			M -> V (in Ref. 2; BAA91637).	chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(3)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.0487)					TGCTAAAGGATGGCCTGGTGG	0.488												
GJA8	2703	broad.mit.edu	37	1	147380609	147380609	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:147380609G>A	uc001epu.1	+	2	590	c.527G>A	c.(526-528)CGG>CAG	p.R176Q		NM_005267	NP_005258	P48165	CXA8_HUMAN	connexin 50	176	Extracellular (Potential).				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.0276)					TACGGGTTCCGGATCCTGCCT	0.587												
HIST2H2BF	440689	broad.mit.edu	37	1	149398889	149398889	+	RNA	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:149398889C>T	uc010pbi.1	-	1		c.341G>A						Q5QNW6	H2B2F_HUMAN	Homo sapiens histone cluster 2, H3, pseudogene 2, mRNA (cDNA clone IMAGE:5190019).						nucleosome assembly	nucleosome|nucleus	DNA binding				0	Breast(34;0.0124)|all_hematologic(923;0.127)					GGCGCACGGCCGTCTGGATCT	0.647												
SEMA6C	10500	broad.mit.edu	37	1	151108547	151108547	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:151108547G>A	uc001ewu.2	-	13	1499	c.1199C>T	c.(1198-1200)CCG>CTG	p.P400L	SEMA6C_uc001ewv.2_Missense_Mutation_p.P400L|SEMA6C_uc001eww.2_Missense_Mutation_p.P360L|SEMA6C_uc010pcq.1_Missense_Mutation_p.P400L	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	semaphorin Y precursor	400	Extracellular (Potential).|Sema.					integral to membrane	receptor activity			ovary(1)|skin(1)	2	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTCCAGCAGCGGGTGAGCCTT	0.587												
ZNF687	57592	broad.mit.edu	37	1	151261166	151261166	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:151261166C>T	uc001exq.2	+	3	2376	c.2278C>T	c.(2278-2280)CGC>TGC	p.R760C	ZNF687_uc009wmo.2_Missense_Mutation_p.R760C|ZNF687_uc009wmp.2_Missense_Mutation_p.R760C	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	760					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCACGTCTCTCGCCGTGTAGG	0.562												
ZNF687	57592	broad.mit.edu	37	1	151263250	151263250	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:151263250G>A	uc001exq.2	+	9	3377	c.3279G>A	c.(3277-3279)ACG>ACA	p.T1093T	ZNF687_uc009wmo.2_Silent_p.T1093T|ZNF687_uc009wmp.2_3'UTR	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	1093					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTGACAGCACGACACCGCCAG	0.622												
CGN	57530	broad.mit.edu	37	1	151491196	151491196	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:151491196G>A	uc009wmw.2	+	2	345	c.201G>A	c.(199-201)GTG>GTA	p.V67V		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	61	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)			CCTTTGTGGTGCTCAACAGTG	0.592												
CGN	57530	broad.mit.edu	37	1	151508742	151508742	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:151508742G>A	uc009wmw.2	+	19	3371	c.3227G>A	c.(3226-3228)CGA>CAA	p.R1076Q	CGN_uc010pde.1_Missense_Mutation_p.R70Q	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	1070	Potential.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCTACCAATCGAAAACTGGAG	0.483												
RORC	6097	broad.mit.edu	37	1	151785741	151785741	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:151785741C>T	uc001ezh.2	-	8	1256	c.1148G>A	c.(1147-1149)GGT>GAT	p.G383D	RORC_uc001ezg.2_Missense_Mutation_p.G362D|RORC_uc010pdo.1_Missense_Mutation_p.G437D|RORC_uc010pdp.1_Intron	NM_005060	NP_005051	P51449	RORG_HUMAN	RAR-related orphan receptor C isoform a	383	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCCATGCCACCGTATTTGCC	0.567												
TCHHL1	126637	broad.mit.edu	37	1	152058006	152058006	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:152058006T>G	uc001ezo.1	-	3	2217	c.2152A>C	c.(2152-2154)AAT>CAT	p.N718H		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	718							calcium ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AACAGAGTATTCTGGGCCTCT	0.443												
FLG	2312	broad.mit.edu	37	1	152286125	152286125	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:152286125C>T	uc001ezu.1	-	3	1273	c.1237G>A	c.(1237-1239)GGA>AGA	p.G413R	uc001ezv.2_RNA	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	413	Ser-rich.|Filaggrin 2.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCGGTGTCCACGATCGCTG	0.587									Ichthyosis			
LCE5A	254910	broad.mit.edu	37	1	152484143	152484143	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:152484143C>A	uc001ezy.2	+	2	309	c.133C>A	c.(133-135)CCA>ACA	p.P45T	CRCT1_uc001ezz.2_5'Flank	NM_178438	NP_848525	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	45	Cys-rich.				keratinization					ovary(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCCCATGCCCACCTCCAGT	0.502												
S100A7A	338324	broad.mit.edu	37	1	153390650	153390650	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:153390650G>T	uc001fbt.1	+	2	149	c.92G>T	c.(91-93)AGC>ATC	p.S31I		NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7-like 1	31	EF-hand 1.					cytoplasm	calcium ion binding			skin(1)	1	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGAAGCCAAGCCTGCTGACG	0.488												
KCNN3	3782	broad.mit.edu	37	1	154680583	154680583	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:154680583G>T	uc001ffp.2	-	8	2379	c.2065C>A	c.(2065-2067)CTG>ATG	p.L689M	KCNN3_uc001ffo.2_Missense_Mutation_p.L384M	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	small conductance calcium-activated potassium	694						integral to membrane	calmodulin binding			lung(1)	1	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			ATGGCAGACAGGAGCTGCTGC	0.652												
THBS3	7059	broad.mit.edu	37	1	155167338	155167338	+	Silent	SNP	G	G	A	rs139408803		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:155167338G>A	uc001fix.2	-	20	2438	c.2415C>T	c.(2413-2415)TAC>TAT	p.Y805Y	RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Silent_p.Y796Y|THBS3_uc001fiz.2_Silent_p.Y768Y|THBS3_uc001fiy.2_Silent_p.Y334Y|THBS3_uc010pfu.1_Silent_p.Y685Y	NM_007112	NP_009043	P49746	TSP3_HUMAN	thrombospondin 3 precursor	805	TSP C-terminal.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(3)|ovary(2)	5	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACATGACTACGTAGAAGCGGC	0.562												
CLK2	1196	broad.mit.edu	37	1	155237889	155237889	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:155237889T>C	uc001fjy.2	-	6	873	c.583A>G	c.(583-585)ATT>GTT	p.I195V	RAG1AP1_uc010pey.1_Intron|CLK2_uc001fjw.2_Missense_Mutation_p.I194V|CLK2_uc001fjx.2_5'UTR|CLK2_uc009wqm.2_Missense_Mutation_p.I195V	NM_003993	NP_003984	P49760	CLK2_HUMAN	CDC-like kinase 2	195	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0	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)			ACATTCTTAATGATCTTCAGG	0.473								Other_conserved_DNA_damage_response_genes				
PKLR	5313	broad.mit.edu	37	1	155264997	155264997	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:155264997C>T	uc001fkb.3	-	5	643	c.604G>A	c.(604-606)GTG>ATG	p.V202M	RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Missense_Mutation_p.V171M	NM_000298	NP_000289	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC isoform 1	202					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)	GGGTAGTCCACCCACACGGTG	0.637												
ASH1L	55870	broad.mit.edu	37	1	155449273	155449273	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:155449273G>A	uc009wqq.2	-	3	3868	c.3388C>T	c.(3388-3390)CCC>TCC	p.P1130S	ASH1L_uc001fkt.2_Missense_Mutation_p.P1130S|ASH1L_uc009wqr.1_Missense_Mutation_p.P1130S	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1130					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ACTGAACTGGGTTCAACAAAA	0.473												
ASH1L	55870	broad.mit.edu	37	1	155451950	155451950	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:155451950C>T	uc009wqq.2	-	3	1191	c.711G>A	c.(709-711)CCG>CCA	p.P237P	ASH1L_uc001fkt.2_Silent_p.P237P|ASH1L_uc009wqr.1_Silent_p.P237P	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	237					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTAACTTCTTCGGTTTTGTCT	0.428												
PAQR6	79957	broad.mit.edu	37	1	156214585	156214585	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:156214585C>T	uc001fnu.1	-	7	797	c.727G>A	c.(727-729)GAA>AAA	p.E243K	PAQR6_uc010phf.1_Intron|PAQR6_uc001fny.1_Silent_p.L20L|PAQR6_uc001fnv.1_Missense_Mutation_p.E219K|PAQR6_uc010phg.1_Missense_Mutation_p.E240K|PAQR6_uc001fnx.1_Missense_Mutation_p.E137K|PAQR6_uc001fnw.1_Missense_Mutation_p.E137K|PAQR6_uc001fnz.1_Missense_Mutation_p.E137K|PAQR6_uc010phh.1_Missense_Mutation_p.E243K|PAQR6_uc001foa.1_Missense_Mutation_p.E137K|PAQR6_uc001fob.1_RNA	NM_198406	NP_940798	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	243	Extracellular (Potential).					integral to membrane	receptor activity				0	Hepatocellular(266;0.158)					GCCAGCCTTTCAGGCAGGTGG	0.647												
PYHIN1	149628	broad.mit.edu	37	1	158908274	158908274	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:158908274C>T	uc001ftb.2	+	3	598	c.353C>T	c.(352-354)GCA>GTA	p.A118V	PYHIN1_uc001fta.3_Missense_Mutation_p.A118V|PYHIN1_uc001ftc.2_Missense_Mutation_p.A109V|PYHIN1_uc001ftd.2_Missense_Mutation_p.A118V|PYHIN1_uc001fte.2_Missense_Mutation_p.A109V	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	118					cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)					GCTACACCTGCATGCACCCCA	0.448												
PYHIN1	149628	broad.mit.edu	37	1	158911818	158911818	+	Nonsense_Mutation	SNP	C	C	T	rs144716673		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:158911818C>T	uc001ftb.2	+	5	876	c.631C>T	c.(631-633)CGA>TGA	p.R211*	PYHIN1_uc001ftc.2_Nonsense_Mutation_p.R202*|PYHIN1_uc001ftd.2_Nonsense_Mutation_p.R211*|PYHIN1_uc001fte.2_Nonsense_Mutation_p.R202*	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	211	HIN-200.				cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)					AAATATTTTCCGAGAAGACCC	0.373												
DCAF8	50717	broad.mit.edu	37	1	160251955	160251955	+	Silent	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:160251955G>T	uc010pjc.1	-	3	299	c.27C>A	c.(25-27)GCC>GCA	p.A9A	PEX19_uc010pje.1_RNA|PEX19_uc001fvs.2_Silent_p.A156A|PEX19_uc001fvt.2_Silent_p.A66A	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	Error:Variant_position_missing_in_Q5TAQ9_after_alignment						CUL4 RING ubiquitin ligase complex	protein binding			skin(2)	2						GCCCCTCCATGGCCTTGGTCA	0.522												
OLFML2B	25903	broad.mit.edu	37	1	161953686	161953686	+	Missense_Mutation	SNP	C	C	T	rs141909728	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:161953686C>T	uc001gbu.2	-	8	2456	c.2032G>A	c.(2032-2034)GTC>ATC	p.V678I	OLFML2B_uc001gbt.2_Missense_Mutation_p.V161I|OLFML2B_uc010pkq.1_Missense_Mutation_p.V679I	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	678	Olfactomedin-like.									skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CCACAGATGACGAAGCAGTTG	0.572												
ADCY10	55811	broad.mit.edu	37	1	167802290	167802290	+	Silent	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:167802290G>T	uc001ger.2	-	25	3826	c.3528C>A	c.(3526-3528)ATC>ATA	p.I1176I	ADCY10_uc009wvj.2_RNA|ADCY10_uc009wvk.2_Silent_p.I1084I|ADCY10_uc010plj.1_Silent_p.I1023I	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	1176					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						TCTCGACATGGATATGGAGAA	0.478												
RC3H1	149041	broad.mit.edu	37	1	173951935	173951935	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:173951935C>T	uc001gju.3	-	4	785	c.698G>A	c.(697-699)CGG>CAG	p.R233Q	RC3H1_uc010pms.1_Missense_Mutation_p.R233Q|RC3H1_uc001gjv.2_Missense_Mutation_p.R233Q|RC3H1_uc010pmt.1_Missense_Mutation_p.R233Q	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	233					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						TTGAGGAAACCGTGGCTCCAA	0.433												
RABGAP1L	9910	broad.mit.edu	37	1	174780992	174780992	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:174780992A>G	uc001gjx.2	+	19	2429	c.2234A>G	c.(2233-2235)CAG>CGG	p.Q745R	RABGAP1L_uc001gkb.3_5'UTR|RABGAP1L_uc001gkc.3_Missense_Mutation_p.Q52R|RABGAP1L_uc001gkd.3_Missense_Mutation_p.Q71R|RABGAP1L_uc001gke.3_Missense_Mutation_p.Q64R	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like isoform A	745					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			ovary(2)|lung(1)|kidney(1)	4						GACCTTCTGCAGGCTGATTTT	0.378												
ASTN1	460	broad.mit.edu	37	1	176918359	176918359	+	Silent	SNP	C	C	T	rs34739197		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:176918359C>T	uc001glc.2	-	12	2228	c.2016G>A	c.(2014-2016)CCG>CCA	p.P672P	ASTN1_uc001glb.1_Silent_p.P672P|ASTN1_uc001gld.1_Silent_p.P672P|ASTN1_uc009wwx.1_Silent_p.P672P	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	680	EGF-like 3.				cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						TGGGGTCGTCCGGGAAGGGCG	0.552											OREG0014004	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KIAA1614	57710	broad.mit.edu	37	1	180886022	180886022	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:180886022C>T	uc001gok.2	+	2	850	c.783C>T	c.(781-783)TCC>TCT	p.S261S		NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	hypothetical protein LOC57710	261										ovary(3)|skin(1)	4						CCCTGACCTCCGAGGAGGTCT	0.597												
GLT25D2	23127	broad.mit.edu	37	1	183908027	183908027	+	Silent	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:183908027C>A	uc001gqr.2	-	12	2121	c.1749G>T	c.(1747-1749)GTG>GTT	p.V583V	GLT25D2_uc010poj.1_Intron|GLT25D2_uc001gqp.2_Silent_p.V191V|GLT25D2_uc001gqq.2_Silent_p.V320V|GLT25D2_uc001gqs.2_Silent_p.V463V	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	583					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2						AGTCGGTGGCCACTGTCTCAT	0.592												
C1orf25	81627	broad.mit.edu	37	1	185106864	185106864	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:185106864A>T	uc001grf.3	-	10	1659	c.1387T>A	c.(1387-1389)TTG>ATG	p.L463M	C1orf25_uc010pon.1_Missense_Mutation_p.L307M	NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN	N2,N2-dimethylguanosine tRNA	463						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding				0						ACAACTACCAACACAAAATGT	0.408												
CDC73	79577	broad.mit.edu	37	1	193107230	193107230	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:193107230C>T	uc001gtb.2	+	6	682	c.439C>T	c.(439-441)CGC>TGC	p.R147C		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	parafibromin	147					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	p.R147C(1)		parathyroid(46)|ovary(1)|breast(1)|pancreas(1)	49						AGAGTGTGTGCGCCTTGATAA	0.363									Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome			
CFH	3075	broad.mit.edu	37	1	196648770	196648770	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:196648770C>T	uc001gtj.3	+	6	877	c.637C>T	c.(637-639)CCA>TCA	p.P213S	CFH_uc001gti.3_Missense_Mutation_p.P213S|CFH_uc009wyw.2_Missense_Mutation_p.P213S|CFH_uc009wyx.2_Missense_Mutation_p.P149S	NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	213	Sushi 4.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						ATGCAAATCCCCAGATGTTAT	0.284												
F13B	2165	broad.mit.edu	37	1	197026313	197026313	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:197026313A>G	uc001gtt.1	-	7	1045	c.1001T>C	c.(1000-1002)GTA>GCA	p.V334A		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	334	Sushi 6.				blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						CTCACAGGCTACCTTCTCCTG	0.393												
KIF14	9928	broad.mit.edu	37	1	200522567	200522567	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:200522567G>A	uc010ppk.1	-	30	5335	c.4896C>T	c.(4894-4896)TCC>TCT	p.S1632S	KIF14_uc010ppj.1_Silent_p.S1141S	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	1632	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7						TCACTGCTGGGGATGAGCCAT	0.443												
LGR6	59352	broad.mit.edu	37	1	202163322	202163322	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:202163322G>A	uc001gxu.2	+	1	205	c.205G>A	c.(205-207)GCT>ACT	p.A69T		NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	69	Extracellular (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity	p.299_300insGRS(1)		large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						CCCCCTGACGGCTTACCTGTG	0.662												
PPP1R12B	4660	broad.mit.edu	37	1	202318225	202318225	+	Silent	SNP	T	T	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:202318225T>G	uc001gya.1	+	1	390	c.246T>G	c.(244-246)GCT>GCG	p.A82A	PPP1R12B_uc001gxy.2_Silent_p.A82A|PPP1R12B_uc009xad.1_5'UTR|PPP1R12B_uc009xae.1_Silent_p.A82A|PPP1R12B_uc001gxz.1_Silent_p.A82A	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	82	ANK 1.				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)			CAAGAGGTGCTGATATCAACA	0.592												
OPTC	26254	broad.mit.edu	37	1	203465253	203465253	+	Silent	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:203465253C>A	uc001gzu.1	+	2	236	c.120C>A	c.(118-120)TCC>TCA	p.S40S		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	opticin precursor	40						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding				0			BRCA - Breast invasive adenocarcinoma(75;0.109)			AAGGCGATTCCTTTGAAGTTC	0.537												
TMCC2	9911	broad.mit.edu	37	1	205238752	205238752	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:205238752C>T	uc001hbz.1	+	4	1866	c.1422C>T	c.(1420-1422)GGC>GGT	p.G474G	TMCC2_uc010prf.1_Silent_p.G396G|TMCC2_uc001hca.2_Silent_p.G249G|TMCC2_uc001hcb.1_Silent_p.G234G|TMCC2_uc001hcc.1_Silent_p.G95G|TMCC2_uc001hcd.2_Silent_p.G241G	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	474						integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCAAGTATGGCAGCGATGATG	0.682												
KLHDC8A	55220	broad.mit.edu	37	1	205312590	205312590	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:205312590C>T	uc001hcf.1	-	2	711	c.143G>A	c.(142-144)TGC>TAC	p.C48Y	KLHDC8A_uc010prg.1_Intron|KLHDC8A_uc001hcg.1_Missense_Mutation_p.C48Y	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	48	Kelch 2.									ovary(1)	1	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GACCTCGAAGCAGTCCATGGG	0.721												
CTSE	1510	broad.mit.edu	37	1	206328752	206328752	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:206328752C>T	uc001hdu.2	+	7	937	c.819C>T	c.(817-819)TCC>TCT	p.S273S	CTSE_uc001hdv.2_Intron|CTSE_uc010prs.1_Intron	NM_001910	NP_001901	P14091	CATE_HUMAN	cathepsin E isoform a preproprotein	278					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TGTTCTGCTCCGAGGGCTGCC	0.607												
CR1L	1379	broad.mit.edu	37	1	207881608	207881608	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:207881608C>T	uc001hga.3	+	10	1535	c.1414C>T	c.(1414-1416)CAA>TAA	p.Q472*	CR1L_uc001hfz.2_Intron|CR1L_uc001hgb.1_Intron	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	472	Sushi 7.					cytoplasm|extracellular region|membrane					0						AATTTGTCAACGtgagttgaa	0.239												
SLC30A1	7779	broad.mit.edu	37	1	211751694	211751694	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:211751694G>A	uc001hio.1	-	1	406	c.261C>T	c.(259-261)ATC>ATT	p.I87I		NM_021194	NP_067017	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter),	87	Helical; (Potential).				cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		CAGTCAGGAAGATGGCGTTCA	0.667												
CENPF	1063	broad.mit.edu	37	1	214814768	214814768	+	Silent	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:214814768T>C	uc001hkm.2	+	12	3261	c.3087T>C	c.(3085-3087)TGT>TGC	p.C1029C		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	1029	Potential.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TACAAAGATGTGAAGAAACCG	0.328												
DISP1	84976	broad.mit.edu	37	1	223156446	223156446	+	Silent	SNP	A	A	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:223156446A>C	uc001hnu.1	+	3	681	c.534A>C	c.(532-534)CCA>CCC	p.P178P		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	178					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		TCAAGTTGCCAAAAAGGTAAA	0.313												
DISP1	84976	broad.mit.edu	37	1	223176379	223176379	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:223176379G>A	uc001hnu.1	+	8	1787	c.1640G>A	c.(1639-1641)CGT>CAT	p.R547H		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	547	SSD.				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		TTTCTCTATCGTGTAGTATTT	0.358												
PSEN2	5664	broad.mit.edu	37	1	227075861	227075861	+	Splice_Site	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:227075861T>C	uc009xeo.1	+	7	993	c.566_splice	c.e7+2	p.G189_splice	PSEN2_uc009xep.1_Splice_Site_p.G189_splice|PSEN2_uc001hqk.2_Splice_Site	NM_000447	NP_000438	P49810	PSN2_HUMAN	presenilin 2 isoform 1						amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			lung(2)	2		Prostate(94;0.0771)				CTACCTTGGGTAAGTGACAGA	0.517												
OBSCN	84033	broad.mit.edu	37	1	228476440	228476440	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:228476440G>A	uc009xez.1	+	38	10234	c.10190G>A	c.(10189-10191)CGT>CAT	p.R3397H	OBSCN_uc001hsn.2_Missense_Mutation_p.R3397H|OBSCN_uc001hsq.1_Missense_Mutation_p.R653H	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3397	Ig-like 34.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGGAAGGGGCGTGAGAGCCTC	0.622												
OBSCN	84033	broad.mit.edu	37	1	228496852	228496852	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:228496852C>T	uc009xez.1	+	48	12836	c.12792C>T	c.(12790-12792)GGC>GGT	p.G4264G	OBSCN_uc001hsn.2_Silent_p.G4264G	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4264	Ig-like 44.				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)				TCAGTGAGGGCCAGGATGCCA	0.647												
DISC1	27185	broad.mit.edu	37	1	231830287	231830287	+	Silent	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:231830287T>C	uc001huz.2	+	2	836	c.783T>C	c.(781-783)TGT>TGC	p.C261C	TSNAX-DISC1_uc010pwe.1_Silent_p.C216C|TSNAX-DISC1_uc010pwf.1_Silent_p.C216C|TSNAX-DISC1_uc010pwg.1_Silent_p.C250C|TSNAX-DISC1_uc010pwh.1_Silent_p.C216C|TSNAX-DISC1_uc010pwi.1_Silent_p.C216C|TSNAX-DISC1_uc010pwj.1_Silent_p.C250C|TSNAX-DISC1_uc010pwk.1_Silent_p.C250C|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwo.1_Silent_p.C261C|DISC1_uc010pwp.1_Silent_p.C261C|DISC1_uc010pwq.1_Silent_p.C261C|DISC1_uc010pwr.1_Silent_p.C261C|DISC1_uc010pws.1_Silent_p.C261C|DISC1_uc010pwt.1_Silent_p.C261C|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Silent_p.C261C|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Silent_p.C261C|DISC1_uc010pxb.1_Silent_p.C261C|DISC1_uc010pxc.1_Silent_p.C261C|DISC1_uc010pxd.1_5'UTR|DISC1_uc010pxe.1_Silent_p.C261C|DISC1_uc009xfr.2_Silent_p.C216C|DISC1_uc010pxf.1_Silent_p.C261C|DISC1_uc010pxg.1_Silent_p.C261C|DISC1_uc010pxh.1_Silent_p.C261C|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_5'UTR|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Silent_p.C261C|DISC1_uc010pxn.1_5'UTR|DISC1_uc001hva.2_Silent_p.C261C|DISC1_uc010pwm.1_Silent_p.C261C|DISC1_uc001hux.1_Silent_p.C261C|DISC1_uc001hvc.3_Silent_p.C261C|DISC1_uc010pwn.1_Silent_p.C261C	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1 isoform L	261	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			skin(1)	1		all_cancers(173;0.0208)|Prostate(94;0.0975)				ACCCGCGATGTCTCTCTCGGC	0.622												
KIAA1383	54627	broad.mit.edu	37	1	232941415	232941415	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:232941415G>A	uc001hvh.2	+	1	778	c.646G>A	c.(646-648)GGC>AGC	p.G216S		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	hypothetical protein LOC54627	74										ovary(1)	1		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				CCCTCCTGACGGCCCCGGCGC	0.652												
KIAA1804	84451	broad.mit.edu	37	1	233497844	233497844	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:233497844C>T	uc001hvt.3	+	5	1618	c.1357C>T	c.(1357-1359)CAG>TAG	p.Q453*	KIAA1804_uc001hvs.1_Nonsense_Mutation_p.Q453*	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	mixed lineage kinase 4	453					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)				GGCTCTGCAGCAGAAGTCTCA	0.582												
RYR2	6262	broad.mit.edu	37	1	237872219	237872219	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:237872219G>A	uc001hyl.1	+	69	10083	c.9963G>A	c.(9961-9963)CCG>CCA	p.P3321P	RYR2_uc010pxz.1_Silent_p.P276P	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3321					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTTCTTGCCGTTAATGGAGA	0.443												
RYR2	6262	broad.mit.edu	37	1	237947592	237947592	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:237947592G>A	uc001hyl.1	+	90	12700	c.12580G>A	c.(12580-12582)GAG>AAG	p.E4194K	RYR2_uc010pya.1_Missense_Mutation_p.E609K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4194					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAACTTCTGCGAGGACACCAT	0.512												
FMN2	56776	broad.mit.edu	37	1	240370335	240370335	+	Silent	SNP	G	G	A	rs144753167		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:240370335G>A	uc010pyd.1	+	5	2448	c.2223G>A	c.(2221-2223)GCG>GCA	p.A741A	FMN2_uc010pye.1_Silent_p.A745A	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	741					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTTTAGAGGCGAAATCGATAC	0.562												
CNST	163882	broad.mit.edu	37	1	246797236	246797236	+	Silent	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:246797236A>G	uc001ibp.2	+	5	1005	c.627A>G	c.(625-627)GCA>GCG	p.A209A	CNST_uc001ibo.3_Silent_p.A209A	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	209					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0						ATGAGAAAGCAATGAAATTCA	0.343												
ZNF496	84838	broad.mit.edu	37	1	247464565	247464565	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:247464565C>T	uc001ico.2	-	9	1485	c.1020G>A	c.(1018-1020)CCG>CCA	p.P340P	ZNF496_uc009xgv.2_Silent_p.P376P|ZNF496_uc001icp.2_Silent_p.P340P	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	zinc finger protein 496	340					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CTAGAGATCGCGGGTTGCCGC	0.602												
OR11L1	391189	broad.mit.edu	37	1	248005039	248005039	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:248005039G>A	uc001idn.1	-	1	160	c.160C>T	c.(160-162)CGA>TGA	p.R54*		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L,	54	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAGTGCAGTCGCAGGCCCTGG	0.537												
OR2L8	391190	broad.mit.edu	37	1	248112877	248112877	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:248112877T>C	uc001idt.1	+	1	718	c.718T>C	c.(718-720)TGC>CGC	p.C240R	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	240	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CTATTTGACCTGCAGCACCCA	0.458												
OR2T2	401992	broad.mit.edu	37	1	248616240	248616240	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:248616240C>G	uc001iek.1	+	1	142	c.142C>G	c.(142-144)CTG>GTG	p.L48V		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T,	48	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGTCATGATTCTGCTCATCCA	0.517												
ADARB2	105	broad.mit.edu	37	10	1279635	1279635	+	Splice_Site	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:1279635C>T	uc009xhq.2	-	6	1887	c.1513_splice	c.e6+1	p.L505_splice		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2						mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TGGTCTCTTACGGTCTGTGGT	0.597												
AKR1C3	8644	broad.mit.edu	37	10	5144398	5144398	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:5144398C>T	uc001ihr.2	+	6	859	c.676C>T	c.(676-678)CGA>TGA	p.R226*	AKR1C3_uc010qap.1_Nonsense_Mutation_p.R203*|AKR1C3_uc001ihu.2_Nonsense_Mutation_p.R226*	NM_003739	NP_003730	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	226	NADP (By similarity).				prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			skin(1)	1					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	ACGAGACAAACGATGGTAATA	0.378												
C10orf18	54906	broad.mit.edu	37	10	5799586	5799586	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:5799586C>A	uc001iij.2	+	17	7461	c.6836C>A	c.(6835-6837)GCA>GAA	p.A2279E	C10orf18_uc001iik.2_Missense_Mutation_p.A1123E	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	2279										ovary(1)|central_nervous_system(1)	2						CTGTTTCGTGCAGGAGGCTTT	0.423												
IL2RA	3559	broad.mit.edu	37	10	6067873	6067873	+	Silent	SNP	G	G	A	rs74162093		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:6067873G>A	uc001iiz.1	-	2	339	c.180C>T	c.(178-180)AGC>AGT	p.S60S	IL2RA_uc009xih.1_Silent_p.S60S|IL2RA_uc001ija.1_Silent_p.S22S	NM_000417	NP_000408	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha chain precursor	60	Sushi 1.|Extracellular (Potential).				cell proliferation	integral to membrane	interleukin-2 receptor activity			ovary(1)|skin(1)	2					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	AGAGTGACCCGCTTTTTATTC	0.498												
CELF2	10659	broad.mit.edu	37	10	11363317	11363317	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:11363317A>C	uc001iki.3	+	11	1315	c.1223A>C	c.(1222-1224)CAG>CCG	p.Q408P	CELF2_uc010qbj.1_Missense_Mutation_p.Q414P|CELF2_uc001ikk.2_Missense_Mutation_p.Q433P|CELF2_uc001ikl.3_Missense_Mutation_p.Q421P|CELF2_uc010qbl.1_Missense_Mutation_p.Q384P|CELF2_uc010qbm.1_Missense_Mutation_p.Q180P|CELF2_uc001iko.3_Missense_Mutation_p.Q388P|CELF2_uc001ikp.3_Missense_Mutation_p.Q390P|CELF2_uc010qbn.1_Missense_Mutation_p.Q396P|CELF2_uc010qbo.1_Missense_Mutation_p.Q303P|CELF2_uc010qbp.1_Missense_Mutation_p.Q180P	NM_001025077	NP_001020248	O95319	CELF2_HUMAN	CUG triplet repeat, RNA binding protein 2	408	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding				0						AGCCTGCTGCAGCAGCAGAGC	0.667												
CUBN	8029	broad.mit.edu	37	10	16990509	16990509	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:16990509C>T	uc001ioo.2	-	35	5229	c.5177G>A	c.(5176-5178)GGT>GAT	p.G1726D		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1726	CUB 11.				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)	GGTGTGGAAACCCCCAGCACT	0.517												
KIAA1217	56243	broad.mit.edu	37	10	24825761	24825761	+	Missense_Mutation	SNP	G	G	A	rs145406190		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:24825761G>A	uc001iru.3	+	17	3876	c.3473G>A	c.(3472-3474)CGG>CAG	p.R1158Q	KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Missense_Mutation_p.R1122Q|KIAA1217_uc010qcz.1_Missense_Mutation_p.R1123Q|KIAA1217_uc001irw.2_Missense_Mutation_p.R841Q|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Missense_Mutation_p.R841Q|KIAA1217_uc001iry.2_Missense_Mutation_p.R841Q	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1158					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						GAGCCATCCCGGGCTGACAGT	0.488												
GPR158	57512	broad.mit.edu	37	10	25886723	25886723	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:25886723C>T	uc001isj.2	+	11	2228	c.2168C>T	c.(2167-2169)GCC>GTC	p.A723V	GPR158_uc001isk.2_Missense_Mutation_p.A98V	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	723	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						AAACTCTATGCCCAACTGGAA	0.413												
FZD8	8325	broad.mit.edu	37	10	35929020	35929020	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:35929020C>T	uc001iyz.1	-	1	1343	c.1338G>A	c.(1336-1338)TGG>TGA	p.W446*		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	frizzled 8 precursor	446	Helical; Name=4; (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						TGGGCACAAGCCACGCGGCCA	0.657												
ZNF248	57209	broad.mit.edu	37	10	38120692	38120692	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:38120692C>T	uc001izd.1	-	6	2090	c.1591G>A	c.(1591-1593)GAA>AAA	p.E531K	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.E531K	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	531	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GCTGATTTTTCACAGAAGGTT	0.433												
ZNF25	219749	broad.mit.edu	37	10	38241644	38241644	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:38241644T>G	uc001ize.1	-	6	887	c.782A>C	c.(781-783)AAG>ACG	p.K261T	ZNF25_uc001izf.1_Missense_Mutation_p.K225T	NM_145011	NP_659448	P17030	ZNF25_HUMAN	zinc finger protein 25	261	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|central_nervous_system(1)	4		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				CCCACACTCCTTACACTCATA	0.433												
BMS1	9790	broad.mit.edu	37	10	43292210	43292210	+	Silent	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:43292210T>C	uc001jaj.2	+	10	1876	c.1518T>C	c.(1516-1518)GAT>GAC	p.D506D		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	506					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						ACAGTGACGATGACCTTGAGA	0.488												
ZNF239	8187	broad.mit.edu	37	10	44052449	44052449	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:44052449G>A	uc001jaw.3	-	2	1732	c.1079C>T	c.(1078-1080)TCG>TTG	p.S360L	ZNF239_uc001jax.3_Missense_Mutation_p.S360L|ZNF239_uc009xmj.2_Missense_Mutation_p.S360L|ZNF239_uc009xmk.2_Missense_Mutation_p.S360L	NM_005674	NP_005665	Q16600	ZN239_HUMAN	zinc finger protein 239	360	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding				0						GTGAAGGTTCGAGCTCTGACT	0.542												
GPRIN2	9721	broad.mit.edu	37	10	46999541	46999541	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:46999541C>T	uc001jec.2	+	3	796	c.661C>T	c.(661-663)CTG>TTG	p.L221L	GPRIN2_uc010qfq.1_5'Flank	NM_014696	NP_055511	O60269	GRIN2_HUMAN	G protein-regulated inducer of neurite outgrowth	221											0						TGCTGAACAGCTGGCTACCAC	0.637												
PPYR1	5540	broad.mit.edu	37	10	47087175	47087175	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:47087175C>T	uc001jee.2	+	3	811	c.392C>T	c.(391-393)TCG>TTG	p.S131L	ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Missense_Mutation_p.S131L	NM_005972	NP_005963	P50391	NPY4R_HUMAN	pancreatic polypeptide receptor 1	131	Helical; Name=3; (Potential).				blood circulation|digestion|feeding behavior	integral to plasma membrane				ovary(1)|skin(1)	2						TCCATCCTCTCGCTCGTCCTC	0.577												
RBP3	5949	broad.mit.edu	37	10	48389221	48389221	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:48389221C>T	uc001jez.2	-	1	1771	c.1657G>A	c.(1657-1659)GCC>ACC	p.A553T		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	553	4 X approximate tandem repeats.|2.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	ATAAGGAAGGCGAACTCCTCC	0.672												
GDF2	2658	broad.mit.edu	37	10	48414123	48414123	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:48414123T>C	uc001jfa.1	-	2	908	c.745A>G	c.(745-747)AGA>GGA	p.R249G		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	growth differentiation factor 2 precursor	249					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(2)|skin(1)	3						GGCAGGTTTCTGGAACCTGGG	0.557												
C10orf72	196740	broad.mit.edu	37	10	50315742	50315742	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:50315742C>T	uc001jhf.2	-	2	383	c.354G>A	c.(352-354)CAG>CAA	p.Q118Q	C10orf72_uc001jhh.2_Silent_p.Q118Q	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	hypothetical protein LOC196740 isoform 1	118	Ig-like.|Extracellular (Potential).					integral to membrane|plasma membrane					0						GATCGGAGGGCTGCAGTGTCA	0.607												
TFAM	7019	broad.mit.edu	37	10	60154714	60154714	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:60154714C>T	uc001jkf.2	+	7	753	c.621C>T	c.(619-621)GAC>GAT	p.D207D	TFAM_uc001jkg.2_RNA|TFAM_uc001jkh.2_Silent_p.D175D	NM_003201	NP_003192	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial precursor	207	HMG box 2.				DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity				0						CTAAAGAGGACGAAACTCGTT	0.289												
PHYHIPL	84457	broad.mit.edu	37	10	60994193	60994193	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:60994193G>A	uc001jkk.3	+	2	502	c.236G>A	c.(235-237)CGC>CAC	p.R79H	PHYHIPL_uc001jkl.3_Missense_Mutation_p.R33H|PHYHIPL_uc001jkm.3_Missense_Mutation_p.R53H	NM_032439	NP_115815	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting	79	Fibronectin type-III.										0						TCAAAGGATCGCATTACACAC	0.323												
ANK3	288	broad.mit.edu	37	10	61831926	61831926	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:61831926G>A	uc001jky.2	-	37	8905	c.8713C>T	c.(8713-8715)CGC>TGC	p.R2905C	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2905					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						AACAATTTGCGTTCTCTCTCA	0.358												
EGR2	1959	broad.mit.edu	37	10	64573218	64573218	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:64573218C>T	uc010qim.1	-	3	1334	c.1180G>A	c.(1180-1182)GGT>AGT	p.G394S	EGR2_uc010qin.1_Missense_Mutation_p.G344S|EGR2_uc001jmi.2_Missense_Mutation_p.G394S|EGR2_uc010qio.1_Missense_Mutation_p.G407S|EGR2_uc009xph.2_Missense_Mutation_p.G394S	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	394					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGCTTCTCACCGGTGTGGGTG	0.577												
EGR2	1959	broad.mit.edu	37	10	64573837	64573837	+	Silent	SNP	C	C	T	rs144739493	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:64573837C>T	uc010qim.1	-	3	715	c.561G>A	c.(559-561)GCG>GCA	p.A187A	EGR2_uc010qin.1_Silent_p.A137A|EGR2_uc001jmi.2_Silent_p.A187A|EGR2_uc010qio.1_Silent_p.A200A|EGR2_uc009xph.2_Silent_p.A187A	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	187					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					CTGACAGGAACGCAGAAGGGT	0.627												
JMJD1C	221037	broad.mit.edu	37	10	64968900	64968900	+	Silent	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:64968900T>C	uc001jmn.2	-	9	3090	c.2790A>G	c.(2788-2790)GCA>GCG	p.A930A	JMJD1C_uc001jml.2_Silent_p.A711A|JMJD1C_uc001jmm.2_Silent_p.A642A|JMJD1C_uc010qiq.1_Silent_p.A748A|JMJD1C_uc009xpi.2_Silent_p.A748A|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_5'Flank	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	930					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					GATGAGGCTCTGCACTGGAAG	0.443												
CTNNA3	29119	broad.mit.edu	37	10	69407188	69407188	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:69407188C>T	uc009xpn.1	-	2	207	c.84G>A	c.(82-84)GAG>GAA	p.E28E	CTNNA3_uc001jmw.2_Silent_p.E28E|CTNNA3_uc001jmx.3_Silent_p.E28E|CTNNA3_uc009xpo.1_5'UTR|CTNNA3_uc001jna.2_Silent_p.E40E	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	28					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						TTATGAGAGGCTCCAGTAGCT	0.383												
HERC4	26091	broad.mit.edu	37	10	69804277	69804277	+	Silent	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:69804277T>C	uc001jng.3	-	4	581	c.270A>G	c.(268-270)TCA>TCG	p.S90S	HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Silent_p.S90S|HERC4_uc009xpr.2_Silent_p.S90S|HERC4_uc001jni.3_Intron|HERC4_uc001jnj.2_Silent_p.S90S	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	hect domain and RLD 4 isoform a	90	RCC1 2.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			ovary(1)|breast(1)|skin(1)	3						CTTCTCCACATGAAACAGCTA	0.433												
ATOH7	220202	broad.mit.edu	37	10	69991318	69991318	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:69991318C>T	uc001jnq.2	-	1	538	c.117G>A	c.(115-117)GCG>GCA	p.A39A		NM_145178	NP_660161	Q8N100	ATOH7_HUMAN	atonal homolog 7	39					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0						GGCGCCTGCGCGCCGCGCTCT	0.801												
H2AFY2	55506	broad.mit.edu	37	10	71851564	71851564	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:71851564C>T	uc001jqm.2	+	4	790	c.331C>T	c.(331-333)CCC>TCC	p.P111S	H2AFY2_uc001jqn.2_RNA	NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	111	Histone H2A.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			skin(1)	1						CAGAATTCACCCCGAACTGCT	0.557												
ADAMTS14	140766	broad.mit.edu	37	10	72511949	72511949	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:72511949C>T	uc001jrh.2	+	18	2695	c.2695C>T	c.(2695-2697)CGG>TGG	p.R899W	ADAMTS14_uc001jrg.2_Missense_Mutation_p.R902W	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	899	TSP type-1 2.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						GCCCATCCGCCGGCGCTGCAA	0.657												
UNC5B	219699	broad.mit.edu	37	10	73047450	73047450	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:73047450G>A	uc001jro.2	+	6	1274	c.829G>A	c.(829-831)GCT>ACT	p.A277T	UNC5B_uc001jrp.2_Missense_Mutation_p.A277T	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	277	TSP type-1 1.|Extracellular (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3						CACCAACCCCGCTCCACTCAA	0.662												
DUPD1	338599	broad.mit.edu	37	10	76803595	76803595	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:76803595C>T	uc001jwq.1	-	2	381	c.381G>A	c.(379-381)CCG>CCA	p.P127P		NM_001003892	NP_001003892	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase	127	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)	2	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AGGCTGCCGCCGGGTAGAAGA	0.483												
MAT1A	4143	broad.mit.edu	37	10	82034359	82034359	+	Silent	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:82034359G>T	uc001kbw.2	-	8	1257	c.1002C>A	c.(1000-1002)ACC>ACA	p.T334T		NM_000429	NP_000420	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	334					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)	AGGTTCCGTAGGTGAAGATGG	0.572												
MMRN2	79812	broad.mit.edu	37	10	88696544	88696544	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:88696544G>T	uc001kea.2	-	7	2933	c.2806C>A	c.(2806-2808)CTG>ATG	p.L936M	MMRN2_uc010qmn.1_Missense_Mutation_p.L579M	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	936	C1q.					extracellular space				large_intestine(1)	1						GTGCCCGACAGGCTTCTCTTT	0.552												
RNLS	55328	broad.mit.edu	37	10	90122398	90122398	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:90122398G>A	uc001kfe.2	-	5	746	c.611C>T	c.(610-612)ACG>ATG	p.T204M	RNLS_uc010qms.1_Missense_Mutation_p.T121M|RNLS_uc001kfd.2_Missense_Mutation_p.T204M|RNLS_uc009xtj.2_Missense_Mutation_p.T36M	NM_001031709	NP_001026879	Q5VYX0	RNLS_HUMAN	renalase isoform 1	204						extracellular region	oxidoreductase activity			ovary(1)	1						ATCAATCTTCGTACCAGCTTC	0.468												
PANK1	53354	broad.mit.edu	37	10	91353042	91353042	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:91353042G>C	uc001kgp.1	-	5	1679	c.1523C>G	c.(1522-1524)TCC>TGC	p.S508C	PANK1_uc001kgn.1_Missense_Mutation_p.S283C|PANK1_uc001kgo.1_Missense_Mutation_p.S224C|PANK1_uc009xtu.1_Missense_Mutation_p.S310C|uc001kgq.1_5'Flank|MIR107_hsa-mir-107|MI0000114_5'Flank	NM_148977	NP_683878	Q8TE04	PANK1_HUMAN	pantothenate kinase 1 isoform alpha	508					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity				0					Bezafibrate(DB01393)	CTTGCTGATGGAATCTCGCTT	0.502												
PPP1R3C	5507	broad.mit.edu	37	10	93390388	93390388	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:93390388G>A	uc001kho.2	-	2	382	c.250C>T	c.(250-252)CGC>TGC	p.R84C		NM_005398	NP_005389	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory (inhibitor)	84							protein serine/threonine phosphatase activity			breast(1)	1		Colorectal(252;0.235)				AACACAACGCGCTTCTTGGCT	0.458												
PDE6C	5146	broad.mit.edu	37	10	95381733	95381733	+	Silent	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:95381733T>C	uc001kiu.3	+	4	906	c.768T>C	c.(766-768)GAT>GAC	p.D256D		NM_006204	NP_006195	P51160	PDE6C_HUMAN	phosphodiesterase 6C	256	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)				AACTCACAGATGTTGAGCGAC	0.398												
BLNK	29760	broad.mit.edu	37	10	97987263	97987263	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:97987263G>A	uc001kls.3	-	5	442	c.264C>T	c.(262-264)GCC>GCT	p.A88A	BLNK_uc001kme.3_Silent_p.A6A|BLNK_uc001klt.3_Silent_p.A6A|BLNK_uc009xvc.2_Intron|BLNK_uc001klu.3_Silent_p.A6A|BLNK_uc001klv.3_Silent_p.A88A|BLNK_uc001klw.3_RNA|BLNK_uc001klx.3_Silent_p.A88A|BLNK_uc001kly.3_Silent_p.A88A|BLNK_uc001klz.3_RNA|BLNK_uc001kma.3_Silent_p.A88A|BLNK_uc001kmb.3_5'UTR|BLNK_uc001kmc.3_RNA|BLNK_uc001kmd.3_Silent_p.A6A|BLNK_uc009xvd.2_RNA	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	B-cell linker isoform 1	88					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			skin(2)	2		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		CGTTCTCCTCGGCGGGCATCA	0.582												
HPS1	3257	broad.mit.edu	37	10	100185361	100185361	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:100185361G>A	uc010qpf.1	-	13	1518	c.1272C>T	c.(1270-1272)CTC>CTT	p.L424L	HPS1_uc001kpi.1_Silent_p.L424L|HPS1_uc001kpj.1_Silent_p.L331L|HPS1_uc001kpk.1_Silent_p.L248L|HPS1_uc010qpg.1_Silent_p.L44L|HPS1_uc009xwb.2_RNA	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1 protein isoform a	424					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			skin(1)	1		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		GGTCTCCCACGAGGGGCTGGG	0.622									Hermansky-Pudlak_syndrome		OREG0020430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DNMBP	23268	broad.mit.edu	37	10	101639896	101639896	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:101639896G>T	uc001kqj.2	-	16	4312	c.4220C>A	c.(4219-4221)TCT>TAT	p.S1407Y	DNMBP_uc010qpl.1_Missense_Mutation_p.S343Y|DNMBP_uc001kqg.2_Missense_Mutation_p.S695Y|DNMBP_uc001kqh.2_Missense_Mutation_p.S1039Y	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1407	Ser-rich.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TGGCGGAGGAGATGCATCTTG	0.542												
HPS6	79803	broad.mit.edu	37	10	103826053	103826053	+	Silent	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:103826053C>A	uc001kuj.2	+	1	907	c.822C>A	c.(820-822)GCC>GCA	p.A274A		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome-6	274						cytosol|early endosome membrane|endoplasmic reticulum|microsome					0		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		ACACCTGGGCCCCAACTCCCC	0.657									Hermansky-Pudlak_syndrome			
TDRD1	56165	broad.mit.edu	37	10	115981158	115981158	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:115981158T>C	uc001lbg.1	+	20	2966	c.2813T>C	c.(2812-2814)GTG>GCG	p.V938A	TDRD1_uc001lbf.2_Missense_Mutation_p.V815A|TDRD1_uc001lbh.1_Missense_Mutation_p.V925A|TDRD1_uc001lbi.1_Missense_Mutation_p.V929A|TDRD1_uc010qsc.1_Missense_Mutation_p.V542A|TDRD1_uc001lbj.2_Missense_Mutation_p.V647A	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	938					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GAATTGCCAGTGGATAAAACT	0.368												
C10orf46	143384	broad.mit.edu	37	10	120460856	120460856	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:120460856G>A	uc001lds.1	-	5	1242	c.758C>T	c.(757-759)ACG>ATG	p.T253M	C10orf46_uc010qst.1_RNA	NM_153810	NP_722517	Q86Y37	CJ046_HUMAN	chromosome 10 open reading frame 46	253					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding				0		Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0131)		AACATGTTCCGTAAACAGCTT	0.303												
PRDX3	10935	broad.mit.edu	37	10	120928781	120928781	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:120928781C>T	uc001lec.2	-	6	668	c.625G>A	c.(625-627)GTG>ATG	p.V209M		NM_006793	NP_006784	P30048	PRDX3_HUMAN	peroxiredoxin 3 isoform a precursor	209	Thioredoxin.				cell redox homeostasis|hydrogen peroxide catabolic process|mitochondrion organization|myeloid cell differentiation|negative regulation of kinase activity|positive regulation of cell proliferation|positive regulation of NF-kappaB transcription factor activity|regulation of mitochondrial membrane potential|response to lipopolysaccharide	early endosome|mitochondrion	alkyl hydroperoxide reductase activity|caspase inhibitor activity|peroxidase activity|peroxiredoxin activity|protein C-terminus binding|protein kinase binding				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0245)		GTTTCTTCCACGCTTCGGCCC	0.502												
CPXM2	119587	broad.mit.edu	37	10	125601919	125601919	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:125601919C>T	uc001lhk.1	-	4	924	c.599G>A	c.(598-600)CGG>CAG	p.R200Q	CPXM2_uc001lhj.2_RNA	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	200	F5/8 type C.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GGTCAGGCGCCGAGCATCCAC	0.498												
CHST15	51363	broad.mit.edu	37	10	125805706	125805706	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:125805706C>T	uc001lhl.2	-	1	536	c.23G>A	c.(22-24)TGC>TAC	p.C8Y	CHST15_uc001lhm.2_Missense_Mutation_p.C8Y|CHST15_uc001lhn.2_Missense_Mutation_p.C8Y|CHST15_uc010que.1_Missense_Mutation_p.C8Y|CHST15_uc001lho.2_Missense_Mutation_p.C8Y	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	B cell RAG associated protein	8	Cytoplasmic (Potential).				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			ovary(1)	1						CAGCTGTATGCAGCAATTAAT	0.617												
LHPP	64077	broad.mit.edu	37	10	126172753	126172753	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:126172753G>A	uc001lhs.1	+	2	191	c.171G>A	c.(169-171)TCG>TCA	p.S57S	LHPP_uc001lht.1_Silent_p.S57S|LHPP_uc009yai.1_Silent_p.S57S	NM_022126	NP_071409	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic	57					protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity				0		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		CCAACGAGTCGCAGAAGTCCC	0.642												
C10orf137	26098	broad.mit.edu	37	10	127436239	127436239	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:127436239G>A	uc001liq.1	+	20	3242	c.2949G>A	c.(2947-2949)CCG>CCA	p.P983P	C10orf137_uc001lin.2_Silent_p.P949P|C10orf137_uc001lio.1_Silent_p.P949P|C10orf137_uc001lip.1_Silent_p.P687P|C10orf137_uc001lis.1_Silent_p.P309P|C10orf137_uc001lit.1_5'Flank	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	983					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)|lung(2)	10		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATTATGCTCCGTTATCTAGAA	0.388												
FAM196A	642938	broad.mit.edu	37	10	128974523	128974523	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:128974523T>C	uc001lju.1	-	1	178	c.137A>G	c.(136-138)CAG>CGG	p.Q46R	DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.Q46R|FAM196A_uc001ljv.1_Missense_Mutation_p.Q46R|FAM196A_uc009yap.1_Missense_Mutation_p.Q46R	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	hypothetical protein LOC642938	46										ovary(2)	2						AAACCGCACCTGCAGGGCTTT	0.607												
CLRN3	119467	broad.mit.edu	37	10	129676427	129676427	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:129676427C>T	uc001lka.1	-	3	830	c.667G>A	c.(667-669)GGA>AGA	p.G223R	CLRN3_uc001ljz.1_Missense_Mutation_p.G155R	NM_152311	NP_689524	Q8NCR9	CLRN3_HUMAN	clarin 3	223						integral to membrane				skin(1)	1		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				AATAAAATTCCGTCCCTTGGA	0.418												
MKI67	4288	broad.mit.edu	37	10	129904057	129904057	+	Missense_Mutation	SNP	C	C	T	rs150525316		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:129904057C>T	uc001lke.2	-	13	6242	c.6047G>A	c.(6046-6048)GGC>GAC	p.G2016D	MKI67_uc001lkf.2_Missense_Mutation_p.G1656D|MKI67_uc009yav.1_Missense_Mutation_p.G1591D|MKI67_uc009yaw.1_Missense_Mutation_p.G1166D	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2016	16 X 122 AA approximate repeats.|9.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGTGAGCTTGCCGACTGGTAG	0.498												
KNDC1	85442	broad.mit.edu	37	10	134996942	134996942	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:134996942C>T	uc001llz.1	+	4	456	c.455C>T	c.(454-456)GCG>GTG	p.A152V	KNDC1_uc001lma.1_Missense_Mutation_p.A87V	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	152	KIND 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GACCTCGAGGCGCTGCTGAGC	0.697												
KNDC1	85442	broad.mit.edu	37	10	135026413	135026413	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:135026413C>T	uc001llz.1	+	24	4431	c.4430C>T	c.(4429-4431)ACG>ATG	p.T1477M		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1477	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGCCAGCTCACGCTGCTACAG	0.647												
RIC8A	60626	broad.mit.edu	37	11	214277	214277	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:214277C>T	uc001log.2	+	10	1848	c.1523C>T	c.(1522-1524)ACG>ATG	p.T508M	RIC8A_uc001lof.2_Missense_Mutation_p.T514M|RIC8A_uc001loh.2_Missense_Mutation_p.T501M	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN	resistance to inhibitors of cholinesterase 8	508						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity				0		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGTCATCTTACGTCCCTGCAG	0.537												
CEND1	51286	broad.mit.edu	37	11	788202	788202	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:788202C>T	uc001lrh.1	-	2	554	c.375G>A	c.(373-375)CTG>CTA	p.L125L		NM_016564	NP_057648	Q8N111	CEND_HUMAN	cell cycle exit and neuronal differentiation 1	125	Cytoplasmic (Potential).					integral to membrane					0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;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)		CAGCCACCAGCAGGGGGTTGA	0.677												
MUC6	4588	broad.mit.edu	37	11	1016104	1016104	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:1016104C>T	uc001lsw.2	-	31	6748	c.6697G>A	c.(6697-6699)GTG>ATG	p.V2233M		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	2233	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGGGAGACACGGTAACAGTG	0.597												
MUC6	4588	broad.mit.edu	37	11	1025025	1025025	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:1025025G>A	uc001lsw.2	-	24	3095	c.3044C>T	c.(3043-3045)ACG>ATG	p.T1015M		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1015	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTGCTGCGCGTCTCGAAGTC	0.637												
MUC2	4583	broad.mit.edu	37	11	1090915	1090915	+	Silent	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:1090915C>A	uc001lsx.1	+	28	3837	c.3810C>A	c.(3808-3810)ACC>ACA	p.T1270T		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	1270						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ccttcaccaccatcaccctcc	0.398												
TNNI2	7136	broad.mit.edu	37	11	1862321	1862321	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:1862321C>T	uc010qxe.1	+	5	359	c.337C>T	c.(337-339)CGG>TGG	p.R113W	TNNI2_uc010qxc.1_Missense_Mutation_p.R111W|TNNI2_uc010qxd.1_Missense_Mutation_p.R111W	NM_001145841	NP_001139313	P48788	TNNI2_HUMAN	fast-twitch skeletal muscle troponin I isoform	113	Involved in binding TNC and actin.				muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding				0		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCCCCACTGCGGAGGGTGCG	0.637												
CD81	975	broad.mit.edu	37	11	2415337	2415337	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:2415337T>G	uc001lwf.1	+	3	427	c.194T>G	c.(193-195)CTC>CGC	p.L65R	CD81_uc001lwg.1_Missense_Mutation_p.L58R|CD81_uc001lwh.1_5'Flank	NM_004356	NP_004347	P60033	CD81_HUMAN	CD81 antigen	65	Helical; (Potential).				activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding				0		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		ATCTACATCCTCATCGCTGTG	0.647												
KCNQ1	3784	broad.mit.edu	37	11	2798261	2798261	+	Silent	SNP	A	A	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:2798261A>C	uc001lwn.2	+	14	1839	c.1731A>C	c.(1729-1731)TCA>TCC	p.S577S	KCNQ1_uc009ydp.1_Silent_p.S361S|KCNQ1_uc001lwo.2_Silent_p.S450S	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like	577	Cytoplasmic (Potential).				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			ovary(1)	1		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TCTCCGTCTCAGGTGGGTTTC	0.592												
MRGPRE	116534	broad.mit.edu	37	11	3249839	3249839	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:3249839T>C	uc001lxq.3	-	2	498	c.188A>G	c.(187-189)GAC>GGC	p.D63G		NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	63	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(1)|ovary(1)	2		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAGGCCACGTCCAGGAGGTA	0.647												
OR51I1	390063	broad.mit.edu	37	11	5461995	5461995	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:5461995C>T	uc010qze.1	-	1	750	c.750G>A	c.(748-750)GTG>GTA	p.V250V	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I,	250	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAAGGCCAGCACTGCACAGA	0.493												
OR52E8	390079	broad.mit.edu	37	11	5878912	5878912	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:5878912C>T	uc010qzr.1	-	1	21	c.21G>A	c.(19-21)ACG>ACA	p.T7T	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E,	7	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGATTAGACGTAGACATTC	0.418												
TRIM3	10612	broad.mit.edu	37	11	6477697	6477697	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:6477697C>T	uc001mdh.2	-	7	1646	c.1259G>A	c.(1258-1260)CGT>CAT	p.R420H	TRIM3_uc001mdi.2_Missense_Mutation_p.R420H|TRIM3_uc010raj.1_Missense_Mutation_p.R301H|TRIM3_uc009yfd.2_Missense_Mutation_p.R420H|TRIM3_uc010rak.1_Missense_Mutation_p.R420H|TRIM3_uc001mdj.2_Missense_Mutation_p.R301H	NM_006458	NP_006449	O75382	TRIM3_HUMAN	tripartite motif-containing 3	420					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCCCCCGGACGCAGGGCACG	0.701												
NLRP14	338323	broad.mit.edu	37	11	7065142	7065142	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:7065142C>T	uc001mfb.1	+	4	2208	c.1885C>T	c.(1885-1887)CGG>TGG	p.R629W		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	629					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CCGGTGTTTGCGGACCATCAG	0.423												
LMO1	4004	broad.mit.edu	37	11	8248584	8248584	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:8248584C>T	uc001mgg.1	-	3	800	c.303G>A	c.(301-303)GTG>GTA	p.V101V	LMO1_uc009yfo.1_RNA|LMO1_uc001mgh.1_Silent_p.V100V	NM_002315	NP_002306	P25800	RBTN1_HUMAN	LIM domain only 1	101	LIM zinc-binding 2.				cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		GGGCCCGCATCACCATCTCGA	0.617			T|A	TRD@	T-ALL|neuroblastoma	neuroblastoma						
SWAP70	23075	broad.mit.edu	37	11	9746422	9746422	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:9746422T>C	uc001mhw.2	+	4	731	c.632T>C	c.(631-633)GTG>GCG	p.V211A	SWAP70_uc001mhv.2_Missense_Mutation_p.V211A|SWAP70_uc001mhx.2_Missense_Mutation_p.V153A	NM_015055	NP_055870	Q9UH65	SWP70_HUMAN	SWAP-70 protein	211	PH.					cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			ovary(2)|central_nervous_system(1)	3				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		ATATTAGATGTGTTAAAGCAG	0.308												
CALCA	796	broad.mit.edu	37	11	14991505	14991505	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:14991505T>A	uc001mlt.1	-	3	278	c.203A>T	c.(202-204)CAG>CTG	p.Q68L	CALCA_uc001mlu.1_RNA|CALCA_uc001mlv.1_Missense_Mutation_p.Q68L|CALCA_uc001mlw.1_Missense_Mutation_p.Q68L	NM_001033953	NP_001029125	P06881	CALCA_HUMAN	calcitonin isoform CGRP preproprotein	68					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)	1					Phentolamine(DB00692)	CTCTTGCTCCTGCTCCAGCTC	0.637											OREG0020791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SOX6	55553	broad.mit.edu	37	11	16071413	16071413	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:16071413C>T	uc001mme.2	-	11	1395	c.1362G>A	c.(1360-1362)ACG>ACA	p.T454T	SOX6_uc001mmd.2_Silent_p.T403T|SOX6_uc001mmf.2_Silent_p.T400T|SOX6_uc001mmg.2_Silent_p.T441T	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4	441					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3						GGGTGGGAGACGTTGGGGACT	0.507												
MYOD1	4654	broad.mit.edu	37	11	17741309	17741309	+	Translation_Start_Site	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:17741309G>A	uc001mni.2	+	1	200	c.-20G>A	c.(-22--18)CCGTG>CCATG			NM_002478	NP_002469	P15172	MYOD1_HUMAN	myogenic differentiation 1						muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|ovary(1)	3						AGCCAGGACCGTGCCGCGCCA	0.652												
KCNC1	3746	broad.mit.edu	37	11	17793913	17793913	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:17793913C>T	uc001mnk.3	+	2	1327	c.1272C>T	c.(1270-1272)GGC>GGT	p.G424G	KCNC1_uc009yhc.1_Silent_p.G424G	NM_004976	NP_004967	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	424	Helical; Name=Segment S6; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)	1						CGCTGGCGGGCGTGCTCACCA	0.572												
LDHC	3948	broad.mit.edu	37	11	18436832	18436832	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:18436832G>T	uc001mon.3	+	3	340	c.228G>T	c.(226-228)AAG>AAT	p.K76N	LDHC_uc001mom.3_Missense_Mutation_p.K76N|LDHC_uc009yhp.2_Missense_Mutation_p.K76N|LDHC_uc001moo.3_Intron|LDHC_uc009yhq.2_Intron|LDHC_uc009yhr.2_Intron	NM_017448	NP_059144	P07864	LDHC_HUMAN	L-lactate dehydrogenase C	76					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity				0					NADH(DB00157)	GTACTTCAAAGATTACTTCTG	0.294												
LIN7C	55327	broad.mit.edu	37	11	27520241	27520241	+	Silent	SNP	C	C	T	rs146421701		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:27520241C>T	uc001mrl.2	-	5	576	c.549G>A	c.(547-549)TCG>TCA	p.S183S	LIN7C_uc009yii.2_Silent_p.S159S	NM_018362	NP_060832	Q9NUP9	LIN7C_HUMAN	lin-7 homolog C	183					exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction					0						TTTCAAAGCGCGACTCCATTT	0.383												
ELP4	26610	broad.mit.edu	37	11	31625347	31625347	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:31625347C>T	uc001mtb.2	+	5	581	c.546C>T	c.(544-546)CAC>CAT	p.H182H	ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Silent_p.H182H|ELP4_uc010rdz.1_Silent_p.H183H	NM_019040	NP_061913	Q96EB1	ELP4_HUMAN	elongation protein 4 homolog	182					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|prostate(1)	3	Lung SC(675;0.225)					GATTTGGTCACTATTATGATG	0.318												
CHRM4	1132	broad.mit.edu	37	11	46407572	46407572	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:46407572G>A	uc001nct.1	-	1	536	c.536C>T	c.(535-537)ACG>ATG	p.T179M		NM_000741	NP_000732	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	179	Extracellular (By similarity).				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity				0				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	GTCGGGCACCGTCCGCTTACC	0.577												
MTCH2	23788	broad.mit.edu	37	11	47640459	47640459	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:47640459G>A	uc010rho.1	-	13	1027	c.838C>T	c.(838-840)CGA>TGA	p.R280*	MTCH2_uc001nge.2_Nonsense_Mutation_p.R153*|MTCH2_uc010rhp.1_Nonsense_Mutation_p.R132*	NM_014342	NP_055157	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	280					transport	integral to membrane|mitochondrial inner membrane					0						CTATTTCCTCGGCTCATATTC	0.393												
AGBL2	79841	broad.mit.edu	37	11	47732033	47732033	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:47732033G>A	uc001ngg.2	-	3	228	c.128C>T	c.(127-129)ACG>ATG	p.T43M	AGBL2_uc010rhq.1_Missense_Mutation_p.T43M|AGBL2_uc001ngh.1_Missense_Mutation_p.T43M	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	43					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2						ATGCTGATGCGTAGCAGAGTT	0.433												
OR4B1	119765	broad.mit.edu	37	11	48238570	48238570	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:48238570G>A	uc010rhs.1	+	1	209	c.209G>A	c.(208-210)AGT>AAT	p.S70N		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B,	70	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|pancreas(1)	4						GTGGAGATCAGTTATTCCTCC	0.468												
OR4X1	390113	broad.mit.edu	37	11	48286188	48286188	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:48286188C>A	uc010rht.1	+	1	776	c.776C>A	c.(775-777)CCC>CAC	p.P259H		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X,	259	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3						TATATTAGGCCCTGTGTCACC	0.493												
OR5R1	219479	broad.mit.edu	37	11	56184864	56184864	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:56184864A>G	uc010rji.1	-	1	845	c.845T>C	c.(844-846)ATC>ACC	p.I282T		NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R,	282	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					TAACATGGGGATCACCACTGT	0.383												
TNKS1BP1	85456	broad.mit.edu	37	11	57088081	57088081	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:57088081G>T	uc001njr.2	-	2	512	c.200C>A	c.(199-201)CCT>CAT	p.P67H	TNKS1BP1_uc001njs.2_Missense_Mutation_p.P67H|TNKS1BP1_uc009ymd.1_5'UTR	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	67	Arg/Glu/Lys/Pro-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				ACCCCGGGGAGGCCGAGGCCC	0.672												
SLC43A1	8501	broad.mit.edu	37	11	57263584	57263584	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:57263584G>A	uc001nkk.2	-	7	730	c.612C>T	c.(610-612)GGC>GGT	p.G204G	SLC43A1_uc001nkl.2_Silent_p.G204G	NM_003627	NP_003618	O75387	LAT3_HUMAN	solute carrier family 43, member 1	204	Helical; (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity				0						GGCAGGCCAGGCCAGACCAGG	0.607												
ZDHHC5	25921	broad.mit.edu	37	11	57460087	57460087	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:57460087C>T	uc001nkx.1	+	7	1921	c.665C>T	c.(664-666)ACG>ATG	p.T222M	ZDHHC5_uc001nky.1_Missense_Mutation_p.T169M|ZDHHC5_uc001nkz.1_Missense_Mutation_p.T36M	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC domain containing 5	222						integral to membrane	acyltransferase activity|zinc ion binding			skin(1)	1						CTCTAGGTTACGGGTAAATTC	0.458												
OR10Q1	219960	broad.mit.edu	37	11	57995632	57995632	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:57995632C>T	uc010rkd.1	-	1	716	c.716G>A	c.(715-717)CGC>CAC	p.R239H		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	239	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)				GGCCCGGCGGCGGCCCTCGGC	0.632												
OR10Q1	219960	broad.mit.edu	37	11	57996170	57996170	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:57996170G>A	uc010rkd.1	-	1	178	c.178C>T	c.(178-180)CGC>TGC	p.R60C		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	60	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)				ATCGGGGTGCGGAGGGTGCTG	0.522												
ASRGL1	80150	broad.mit.edu	37	11	62156702	62156702	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:62156702G>A	uc001nte.3	+	5	873	c.589G>A	c.(589-591)GTT>ATT	p.V197I	ASRGL1_uc001ntf.3_Missense_Mutation_p.V197I|ASRGL1_uc001ntg.3_Missense_Mutation_p.V69I	NM_025080	NP_079356	Q7L266	ASGL1_HUMAN	asparaginase-like 1	197					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity				0					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	GGTCGGCCGCGTTGGGGACTC	0.577												
AHNAK	79026	broad.mit.edu	37	11	62284598	62284598	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:62284598G>A	uc001ntl.2	-	5	17591	c.17291C>T	c.(17290-17292)CCG>CTG	p.P5764L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	5764					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TTTGCCTTTCGGTGAAGAGGC	0.507												
ATL3	25923	broad.mit.edu	37	11	63414021	63414021	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:63414021G>A	uc001nxk.1	-	6	852	c.576C>T	c.(574-576)TAC>TAT	p.Y192Y	ATL3_uc010rms.1_Silent_p.Y174Y	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN	atlastin 3	192	Cytoplasmic.				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			pancreas(1)	1						CCAGACGACCGTATTCTGTGA	0.269												
C11orf84	144097	broad.mit.edu	37	11	63585406	63585406	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:63585406G>A	uc001nxt.2	+	2	493	c.257G>A	c.(256-258)AGC>AAC	p.S86N		NM_138471	NP_612480	Q9BUA3	CK084_HUMAN	hypothetical protein LOC144097	86											0						CCAGGAGGCAGCGGGCGGGCA	0.662												
PPP2R5B	5526	broad.mit.edu	37	11	64697985	64697985	+	Missense_Mutation	SNP	C	C	T	rs147891521	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:64697985C>T	uc001oby.2	+	8	1400	c.815C>T	c.(814-816)ACG>ATG	p.T272M	PPP2R5B_uc001obz.2_Missense_Mutation_p.T272M	NM_006244	NP_006235	Q15173	2A5B_HUMAN	beta isoform of regulatory subunit B56, protein	272					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(2)	2						CCCCTGAAGACGGAGCACAAG	0.607												
SLC25A45	283130	broad.mit.edu	37	11	65144509	65144509	+	Silent	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:65144509C>A	uc001odp.1	-	5	800	c.378G>T	c.(376-378)CGG>CGT	p.R126R	SLC25A45_uc009yqi.1_Silent_p.R64R|SLC25A45_uc001odq.1_Silent_p.R102R|SLC25A45_uc001odr.1_Silent_p.R126R|SLC25A45_uc001ods.1_Silent_p.R84R|SLC25A45_uc001odt.1_Silent_p.R84R	NM_001077241	NP_001070709	Q8N413	S2545_HUMAN	solute carrier family 25, member 45 isoform b	126	Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0						GGTTTTGTAGCCGGACTTTGA	0.632												
MAP3K11	4296	broad.mit.edu	37	11	65365885	65365885	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:65365885C>T	uc001oew.2	-	10	2914	c.2421G>A	c.(2419-2421)CCG>CCA	p.P807P	KCNK7_uc001oeq.2_5'Flank|KCNK7_uc001oer.2_5'Flank|KCNK7_uc001oes.2_5'Flank|KCNK7_uc001oeu.2_5'Flank|MAP3K11_uc001oev.2_Silent_p.P223P|MAP3K11_uc010rol.1_Silent_p.P550P|MAP3K11_uc001oex.1_Silent_p.P296P	NM_002419	NP_002410	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase	807	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						GGTCTGAGTCCGGGAACAAGG	0.672												
PCNXL3	399909	broad.mit.edu	37	11	65390989	65390989	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:65390989C>T	uc001oey.2	+	12	2385	c.2385C>T	c.(2383-2385)TTC>TTT	p.F795F	PCNXL3_uc009yqn.2_5'Flank	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	795	Helical; (Potential).					integral to membrane					0						AGAACATCTTCGGCGTGGGCC	0.617												
CTSF	8722	broad.mit.edu	37	11	66331420	66331420	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:66331420G>A	uc001oip.2	-	13	1529	c.1439C>T	c.(1438-1440)TCG>TTG	p.S480L		NM_003793	NP_003784	Q9UBX1	CATF_HUMAN	cathepsin F precursor	480				SDVPFWAIKNSWGTDWGEKGYYYLHRGSGACGVNTMASSAV VD -> EFRCLSCIQPGHRQGWDHSISGPLEGK (in Ref. 9).	proteolysis	lysosome	cysteine-type endopeptidase activity				0						CACCACCGCCGAGCTGGCCAT	0.672												
RBM14	10432	broad.mit.edu	37	11	66392099	66392099	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:66392099C>T	uc001oit.2	+	2	891	c.752C>T	c.(751-753)GCC>GTC	p.A251V	RBM14_uc009yrh.2_Intron|RBM14_uc009yri.2_Intron|RBM4_uc009yrj.2_Intron|RBM4_uc009yrk.2_Intron	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	251	Ala-rich.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						GCCTACAGGGCCCAGCCTTCT	0.657												
ANKRD13D	338692	broad.mit.edu	37	11	67068991	67068991	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:67068991G>A	uc001okc.1	+	14	1631	c.1120G>A	c.(1120-1122)GTG>ATG	p.V374M	ANKRD13D_uc001okd.1_Missense_Mutation_p.V461M|ANKRD13D_uc001oke.1_Missense_Mutation_p.V374M|ANKRD13D_uc001okg.1_Missense_Mutation_p.V157M|ANKRD13D_uc001okh.1_Missense_Mutation_p.V157M|ANKRD13D_uc001oki.1_Missense_Mutation_p.V111M|SSH3_uc001okj.2_5'Flank|SSH3_uc001okk.2_5'Flank|SSH3_uc001okl.2_5'Flank	NM_207354	NP_997237	Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	374										ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGACCCCACCGTGTTTGAAGT	0.657												
NDUFV1	4723	broad.mit.edu	37	11	67379380	67379380	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:67379380A>G	uc001omj.2	+	8	1246	c.1093A>G	c.(1093-1095)AAA>GAA	p.K365E	NDUFV1_uc010rpv.1_Missense_Mutation_p.K264E|NDUFV1_uc001oml.2_Missense_Mutation_p.K358E|NDUFV1_uc001omk.3_Missense_Mutation_p.K356E|NDUFV1_uc009yrz.1_Missense_Mutation_p.E224G|NDUFV1_uc010rpw.1_Missense_Mutation_p.K74E	NM_007103	NP_009034	P49821	NDUV1_HUMAN	NADH dehydrogenase ubiquinone flavoprotein 1	365					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			skin(1)	1					NADH(DB00157)	GGACATCGTGAAAGCCATCGC	0.632												
ANO1	55107	broad.mit.edu	37	11	70009435	70009435	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:70009435C>T	uc001opj.2	+	19	2244	c.1939C>T	c.(1939-1941)CGA>TGA	p.R647*	ANO1_uc001opk.1_Nonsense_Mutation_p.R589*|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Nonsense_Mutation_p.R356*	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	647	Extracellular (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2						CCGTTCCTTCCGAATGGAAGA	0.517												
INPPL1	3636	broad.mit.edu	37	11	71939254	71939254	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:71939254C>T	uc001osf.2	+	2	350	c.203C>T	c.(202-204)ACG>ATG	p.T68M	INPPL1_uc001osg.2_Translation_Start_Site	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	68	SH2.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						CATGTGCACACGTATCGCATT	0.582												
PDE2A	5138	broad.mit.edu	37	11	72295930	72295930	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:72295930C>T	uc010rrc.1	-	17	1588	c.1345G>A	c.(1345-1347)GTG>ATG	p.V449M	PDE2A_uc001oso.2_Missense_Mutation_p.V428M|PDE2A_uc010rra.1_Missense_Mutation_p.V442M|PDE2A_uc001osn.2_Missense_Mutation_p.V193M|PDE2A_uc010rrb.1_Missense_Mutation_p.V440M|PDE2A_uc010rrd.1_Missense_Mutation_p.V334M	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	449	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	TCATCCACCACGCCCCCGTCG	0.647												
CHRDL2	25884	broad.mit.edu	37	11	74441890	74441890	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:74441890G>A	uc001ovi.2	-	1	297	c.44C>T	c.(43-45)GCG>GTG	p.A15V	CHRDL2_uc001ovh.2_Missense_Mutation_p.A15V|CHRDL2_uc001ovk.1_Missense_Mutation_p.A15V			Q6WN34	CRDL2_HUMAN	RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1;          Short=BNF-1; Flags: Precursor;	15					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion					0	Hepatocellular(1;0.098)					CCAGAGCAGCGCGAGTCCCAG	0.672												
MAP6	4135	broad.mit.edu	37	11	75379314	75379314	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:75379314G>A	uc001owu.2	-	1	166	c.101C>T	c.(100-102)TCG>TTG	p.S34L	MAP6_uc001owv.2_Missense_Mutation_p.S34L	NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6 isoform 1	34						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding				0	Ovarian(111;0.11)					GGTGGCCTCCGAGTACTTGGT	0.388												
USP35	57558	broad.mit.edu	37	11	77921181	77921181	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:77921181C>T	uc009yva.1	+	10	2526	c.2280C>T	c.(2278-2280)TCC>TCT	p.S760S	USP35_uc001oze.2_Silent_p.S516S|USP35_uc001ozc.2_Silent_p.S328S|USP35_uc010rsp.1_Silent_p.S192S|USP35_uc001ozd.2_Silent_p.S371S|USP35_uc001ozf.2_Silent_p.S491S	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	760					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GCTCCCGCTCCGTCCTGGACC	0.577												
PCF11	51585	broad.mit.edu	37	11	82877374	82877374	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:82877374C>T	uc001ozx.3	+	5	1780	c.1435C>T	c.(1435-1437)CGA>TGA	p.R479*	PCF11_uc010rsu.1_Nonsense_Mutation_p.R479*	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	479					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1						TACTAGAAAGCGATCAAGATC	0.408												
DLG2	1740	broad.mit.edu	37	11	83770433	83770433	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	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												
GRM5	2915	broad.mit.edu	37	11	88780735	88780735	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:88780735C>T	uc001pcq.2	-	1	506	c.306G>A	c.(304-306)TCG>TCA	p.S102S	GRM5_uc009yvm.2_Silent_p.S102S|GRM5_uc009yvn.1_Silent_p.S102S	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	102	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)	GGGCCACAGCCGAATGCCAGC	0.522												
FAT3	120114	broad.mit.edu	37	11	92533495	92533495	+	Missense_Mutation	SNP	G	G	A	rs149993900	by1000genomes	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:92533495G>A	uc001pdj.3	+	9	7333	c.7316G>A	c.(7315-7317)CGG>CAG	p.R2439Q		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2439	Cadherin 22.|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)				GGGAATGACCGGACGAGCTTT	0.493										TCGA Ovarian(4;0.039)		
FAT3	120114	broad.mit.edu	37	11	92613994	92613994	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:92613994C>T	uc001pdj.3	+	22	12242	c.12225C>T	c.(12223-12225)TGC>TGT	p.C4075C	FAT3_uc001pdi.3_Silent_p.C515C	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4075	EGF-like 3.|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)				GAGGATCCTGCGATCCAATAG	0.458										TCGA Ovarian(4;0.039)		
CCDC82	79780	broad.mit.edu	37	11	96117864	96117864	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:96117864G>A	uc009ywp.2	-	1	291	c.48C>T	c.(46-48)CAC>CAT	p.H16H	CCDC82_uc009ywq.2_Silent_p.H16H|CCDC82_uc001pfx.3_Silent_p.H16H|CCDC82_uc009ywr.2_Silent_p.H16H|CCDC82_uc009yws.2_Silent_p.H16H	NM_024725	NP_079001	Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	16							protein binding			ovary(1)	1		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		GCTCAGGCACGTGACTCTTAG	0.343												
KIAA1377	57562	broad.mit.edu	37	11	101786106	101786106	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:101786106C>T	uc001pgm.2	+	1	361	c.91C>T	c.(91-93)CGG>TGG	p.R31W	ANGPTL5_uc001pgl.2_Intron	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	31							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CCTCGGCCCTCGGGAGAGCGG	0.642												
PIH1D2	120379	broad.mit.edu	37	11	111941920	111941920	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:111941920T>C	uc001pmq.3	-	4	471	c.389A>G	c.(388-390)CAG>CGG	p.Q130R	PIH1D2_uc009yyl.2_Missense_Mutation_p.Q130R|PIH1D2_uc001pmp.3_Missense_Mutation_p.Q130R|PIH1D2_uc010rws.1_Missense_Mutation_p.Q130R	NM_138789	NP_620144	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2 isoform 1	130										ovary(1)	1		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		CATGGCCATCTGAATTAACTG	0.363												
BACE1	23621	broad.mit.edu	37	11	117186283	117186283	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:117186283C>T	uc001pqz.2	-	1	690	c.229G>A	c.(229-231)GTG>ATG	p.V77M	BACE1_uc001pqw.2_Missense_Mutation_p.V77M|BACE1_uc001pqx.2_Missense_Mutation_p.V77M|BACE1_uc001pqy.2_Missense_Mutation_p.V77M|BACE1_uc001pra.1_Missense_Mutation_p.V77M	NM_012104	NP_036236	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1 isoform A	77	Extracellular (Potential).				beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			ovary(1)	1	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		GTCATCTCCACGTAGTAGCCC	0.682												
DSCAML1	57453	broad.mit.edu	37	11	117387410	117387410	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:117387410C>T	uc001prh.1	-	8	1737	c.1735G>A	c.(1735-1737)GGG>AGG	p.G579R		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	519	Extracellular (Potential).|Ig-like C2-type 6.				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)		GTGTCCCGCCCGGCGACTGCT	0.607												
DSCAML1	57453	broad.mit.edu	37	11	117651423	117651423	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:117651423G>A	uc001prh.1	-	2	331	c.329C>T	c.(328-330)GCG>GTG	p.A110V	DSCAML1_uc001pri.1_5'UTR	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	50	Extracellular (Potential).|Ig-like C2-type 1.				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)		GGGGGAGCCCGCGGCCGGGCA	0.657												
ATP5L	10632	broad.mit.edu	37	11	118279806	118279806	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:118279806A>G	uc001psx.2	+	3	582	c.305A>G	c.(304-306)GAT>GGT	p.D102G		NM_006476	NP_006467	O75964	ATP5L_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	102					ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|protein binding				0	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)		ATTGGCTATGATGTTTGAAGA	0.378												
PHLDB1	23187	broad.mit.edu	37	11	118499199	118499199	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:118499199C>A	uc001ptr.1	+	7	2013	c.1660C>A	c.(1660-1662)CAG>AAG	p.Q554K	PHLDB1_uc001pts.2_Missense_Mutation_p.Q554K|PHLDB1_uc001ptt.2_Missense_Mutation_p.Q554K|PHLDB1_uc001ptu.1_Intron|PHLDB1_uc001ptv.1_Missense_Mutation_p.Q354K|PHLDB1_uc001ptw.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	554											0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TTCACCCTGCCAGAGTCCCTG	0.592												
PDZD3	79849	broad.mit.edu	37	11	119058114	119058114	+	Missense_Mutation	SNP	C	C	T	rs140060249		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:119058114C>T	uc001pwb.2	+	3	1188	c.664C>T	c.(664-666)CGG>TGG	p.R222W	PDZD3_uc001pvy.2_Missense_Mutation_p.R156W|PDZD3_uc001pvz.2_Missense_Mutation_p.R156W|PDZD3_uc010rzd.1_Missense_Mutation_p.R143W|PDZD3_uc001pwa.2_5'UTR			Q86UT5	NHRF4_HUMAN	RecName: Full=Na(+)/H(+) exchange regulatory cofactor NHE-RF4;          Short=NHERF-4; AltName: Full=PDZ domain-containing protein 3; AltName: Full=PDZ domain-containing protein 2; AltName: Full=Intestinal and kidney-enriched PDZ protein; AltName: Full=Sodium-hydrogen exchanger regulatory factor 4;	222					cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)	1	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		GGTCCGGCCCCGGCTGTGCCA	0.622												
TRIM29	23650	broad.mit.edu	37	11	120008304	120008304	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:120008304C>T	uc001pwz.2	-	1	560	c.436G>A	c.(436-438)GGG>AGG	p.G146R	TRIM29_uc001pxa.2_RNA	NM_012101	NP_036233	Q14134	TRI29_HUMAN	tripartite motif protein TRIM29	146					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)|kidney(1)|skin(1)	4		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CGGGTCTCCCCGGGCTCCATG	0.642												
ARHGEF12	23365	broad.mit.edu	37	11	120350842	120350842	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:120350842C>T	uc001pxl.1	+	38	3947	c.3940C>T	c.(3940-3942)CCC>TCC	p.P1314S	ARHGEF12_uc009zat.2_Missense_Mutation_p.P1295S|ARHGEF12_uc009zau.1_Missense_Mutation_p.P1211S	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1314					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(2)|breast(2)|skin(2)|ovary(1)	7		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AGGACATATGCCCTTTAGAAC	0.483			T	MLL	AML							
GRIK4	2900	broad.mit.edu	37	11	120827592	120827592	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:120827592G>A	uc001pxn.2	+	16	2091	c.1804G>A	c.(1804-1806)GGG>AGG	p.G602R	GRIK4_uc009zav.1_Missense_Mutation_p.G602R|GRIK4_uc009zaw.1_Missense_Mutation_p.G602R|GRIK4_uc009zax.1_Missense_Mutation_p.G602R	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	602	Cytoplasmic (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)	GTTTCCGGTCGGGGGGTTCAT	0.652												
UBASH3B	84959	broad.mit.edu	37	11	122678801	122678801	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:122678801G>A	uc001pyi.3	+	13	2089	c.1729G>A	c.(1729-1731)GCA>ACA	p.A577T		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing,	577	Protein tyrosine phosphatase (By similarity).					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)		TGTGGCCCACGCATCTTCCCT	0.458												
BSX	390259	broad.mit.edu	37	11	122848490	122848490	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:122848490C>T	uc010rzs.1	-	3	569	c.569G>A	c.(568-570)CGC>CAC	p.R190H		NM_001098169	NP_001091639	Q3C1V8	BSH_HUMAN	brain specific homeobox	190											0		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CTCTGAACCGCGGGGGCTGCC	0.652												
NRGN	4900	broad.mit.edu	37	11	124615423	124615423	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:124615423G>A	uc001qaq.2	+	2	192	c.40G>A	c.(40-42)GAC>AAC	p.D14N	NRGN_uc001qar.2_Missense_Mutation_p.D14N	NM_006176	NP_006167	Q92686	NEUG_HUMAN	neurogranin	14					nervous system development|signal transduction		calmodulin binding				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		CAAGCCGGACGACGACATTCT	0.632												
VSIG2	23584	broad.mit.edu	37	11	124618378	124618378	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:124618378C>T	uc001qas.2	-	6	835	c.759G>A	c.(757-759)GTG>GTA	p.V253V	VSIG2_uc001qat.2_Silent_p.V253V	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	253	Helical; (Potential).					integral to plasma membrane|membrane fraction				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		ACAGCAACAGCACGCCCAGGA	0.587												
ADAMTS8	11095	broad.mit.edu	37	11	130275467	130275467	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:130275467G>A	uc001qgg.3	-	9	3014	c.2656C>T	c.(2656-2658)CTG>TTG	p.L886L	ADAMTS8_uc001qgf.2_Silent_p.L367L	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	886	TSP type-1 2.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)	1	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		AGGGGGCACAGCTGGCTTTCG	0.637												
NCAPD3	23310	broad.mit.edu	37	11	134051038	134051038	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:134051038G>A	uc001qhd.1	-	20	3099	c.2493C>T	c.(2491-2493)TGC>TGT	p.C831C	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	831					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)		GGCGGTGCTCGCAGGTGGAGA	0.522												
GLB1L2	89944	broad.mit.edu	37	11	134212846	134212846	+	Splice_Site	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:134212846G>A	uc001qhp.2	+	2	472	c.284_splice	c.e2+1	p.T95_splice		NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2 precursor						carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|pancreas(1)|skin(1)	3	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CCCTCACCACGTAGGTGCTGC	0.612												
WNK1	65125	broad.mit.edu	37	12	1005427	1005427	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:1005427C>T	uc001qio.3	+	24	6281	c.5774C>T	c.(5773-5775)GCC>GTC	p.A1925V	WNK1_uc001qip.3_Missense_Mutation_p.A1677V|WNK1_uc001qir.3_Missense_Mutation_p.A1098V	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1925					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCAGAGAGTGCCCACAAAACT	0.498												
PARP11	57097	broad.mit.edu	37	12	3939057	3939057	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:3939057T>C	uc001qmk.1	-	1	180	c.125A>G	c.(124-126)CAG>CGG	p.Q42R	PARP11_uc001qml.2_Missense_Mutation_p.Q49R|PARP11_uc009zef.2_RNA|PARP11_uc001qmm.2_Silent_p.S8S|PARP11_uc001qmn.2_Silent_p.S8S	NM_020367	NP_065100	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	42	WWE.						NAD+ ADP-ribosyltransferase activity			ovary(1)|central_nervous_system(1)	2			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			AGGAGGTACCTGAAACATGTG	0.388												
PLEKHG6	55200	broad.mit.edu	37	12	6425053	6425053	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:6425053C>T	uc001qnr.2	+	6	722	c.574C>T	c.(574-576)CTG>TTG	p.L192L	PLEKHG6_uc001qns.2_Silent_p.L192L|PLEKHG6_uc010sew.1_Silent_p.L192L|PLEKHG6_uc010sex.1_Silent_p.L160L	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain-containing family G	192	DH.				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|skin(1)	2						CGCCGGCCTGCTGAACCTGCA	0.667												
M6PR	4074	broad.mit.edu	37	12	9094486	9094486	+	Silent	SNP	T	T	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:9094486T>A	uc001qvf.2	-	7	932	c.762A>T	c.(760-762)GCA>GCT	p.A254A		NM_002355	NP_002346	P20645	MPRD_HUMAN	cation-dependent mannose-6-phosphate receptor	254	Cytoplasmic (Potential).				endosome to lysosome transport|receptor-mediated endocytosis	cell surface|endosome|integral to plasma membrane|lysosomal membrane	mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity				0		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)		CACCACGATATGCTGCAGGCA	0.463												
PZP	5858	broad.mit.edu	37	12	9349220	9349220	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:9349220G>A	uc001qvl.2	-	9	958	c.929C>T	c.(928-930)ACG>ATG	p.T310M	PZP_uc009zgl.2_Missense_Mutation_p.T179M	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						TTCAAAGCCCGTATTTGTAAT	0.388												
PRH2	5555	broad.mit.edu	37	12	11083297	11083297	+	Missense_Mutation	SNP	G	G	A	rs147911411	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:11083297G>A	uc009zhr.2	+	3	175	c.137G>A	c.(136-138)CGT>CAT	p.R46H	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH2_uc001qzh.2_Missense_Mutation_p.R46H|PRH2_uc001qzi.3_Missense_Mutation_p.R46H	NM_001110213	NP_001103683	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 2	46	Inhibits hydroxyapatite formation, binds to hydroxyapatite and calcium.					extracellular space	protein binding				0						GATGAGGAGCGTCAGGGACCA	0.532												
WBP11	51729	broad.mit.edu	37	12	14940008	14940008	+	Silent	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:14940008C>A	uc001rci.2	-	12	2078	c.1917G>T	c.(1915-1917)GGG>GGT	p.G639G		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	639					mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			ovary(1)|lung(1)	2						GTCACAGTAGCCCTTCCATCT	0.453												
TMTC1	83857	broad.mit.edu	37	12	29904657	29904657	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:29904657G>A	uc001rjb.2	-	5	1030	c.556C>T	c.(556-558)CCA>TCA	p.P186S	TMTC1_uc001rjc.1_Missense_Mutation_p.P186S	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat	294						integral to membrane	binding				0	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TTGGGTTCTGGTGGCAGTGGA	0.403												
SFRS2IP	9169	broad.mit.edu	37	12	46322094	46322094	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:46322094A>G	uc001rox.2	-	11	1677	c.1390T>C	c.(1390-1392)TAT>CAT	p.Y464H	SFRS2IP_uc001row.2_Missense_Mutation_p.Y149H|SFRS2IP_uc001roy.1_Missense_Mutation_p.Y538H	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	464					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)		TCTGTATCATAATTTGCAGTA	0.388												
HDAC7	51564	broad.mit.edu	37	12	48192418	48192418	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:48192418C>T	uc009zkv.1	-	2	374	c.159G>A	c.(157-159)CCG>CCA	p.P53P	HDAC7_uc010slo.1_Silent_p.P92P|HDAC7_uc001rqj.3_Silent_p.P92P|HDAC7_uc001rqk.3_Silent_p.P75P			Q8WUI4	HDAC7_HUMAN	Synthetic construct DNA, clone: pF1KB0470, Homo sapiens HDAC7 gene for histone deacetylase 7, without stop codon, in Flexi system.	53	Interaction with MEF2A (By similarity).|Transcription repression 1 (By similarity).|Interaction with MEF2C (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.137)		ACTCGGGCATCGGCGTGTCCA	0.632												
DDX23	9416	broad.mit.edu	37	12	49237796	49237796	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:49237796G>A	uc001rsm.2	-	3	338	c.247C>T	c.(247-249)CGG>TGG	p.R83W		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	83	Arg-rich.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			kidney(3)|ovary(1)|lung(1)|skin(1)	6						TTCCGATCCCGCTCCTTATCT	0.493												
CSRNP2	81566	broad.mit.edu	37	12	51458168	51458168	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:51458168C>A	uc001rxu.1	-	5	1291	c.993G>T	c.(991-993)GAG>GAT	p.E331D		NM_030809	NP_110436	Q9H175	CSRN2_HUMAN	TGF-beta induced apoptosis protein 12	331					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						GCTCCAGTTCCTCTGCACTCT	0.582												
KRT5	3852	broad.mit.edu	37	12	52910981	52910981	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:52910981G>A	uc001san.2	-	6	1291	c.1128C>T	c.(1126-1128)GGC>GGT	p.G376G	KRT5_uc009zmh.2_Silent_p.G376G	NM_000424	NP_000415	P13647	K2C5_HUMAN	keratin 5	376	Rod.|Coil 2.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton				0				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGAGGTCATCGCCATGCCGGC	0.498												
TARBP2	6895	broad.mit.edu	37	12	53899445	53899445	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:53899445C>T	uc001sdo.2	+	8	1242	c.754C>T	c.(754-756)CGC>TGC	p.R252C	TARBP2_uc001sdp.2_Missense_Mutation_p.R231C|TARBP2_uc001sdq.2_Missense_Mutation_p.R108C|TARBP2_uc001sdr.2_Missense_Mutation_p.R108C|TARBP2_uc001sds.2_Missense_Mutation_p.P209L|TARBP2_uc001sdt.2_Missense_Mutation_p.R231C|TARBP2_uc001sdu.2_Missense_Mutation_p.R108C|TARBP2_uc001sdv.2_RNA	NM_134323	NP_599150	Q15633	TRBP2_HUMAN	TAR RNA binding protein 2 isoform a	252	Sufficient for interaction with DICER1.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)	1						TGTGGGCTCCCGCCTGGATGG	0.547												
HOXC9	3225	broad.mit.edu	37	12	54396222	54396222	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:54396222G>A	uc001sep.2	+	3	645	c.547G>A	c.(547-549)GTG>ATG	p.V183M	HOXC9_uc001seq.2_Missense_Mutation_p.V183M	NM_006897	NP_008828	P31274	HXC9_HUMAN	homeobox C9	183					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|pancreas(1)|skin(1)	3						AGGCAACCCCGTGGCCAACTG	0.577												
NCKAP1L	3071	broad.mit.edu	37	12	54925281	54925281	+	Missense_Mutation	SNP	G	G	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:54925281G>C	uc001sgc.3	+	24	2690	c.2611G>C	c.(2611-2613)GTG>CTG	p.V871L	NCKAP1L_uc010sox.1_Missense_Mutation_p.V413L|NCKAP1L_uc010soy.1_Missense_Mutation_p.V821L	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	871					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4						ACAGAAGCTGGTGGTGGAAAA	0.493												
OR6C1	390321	broad.mit.edu	37	12	55714547	55714547	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:55714547C>T	uc010spi.1	+	1	164	c.164C>T	c.(163-165)ACC>ATC	p.T55I		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C,	55	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2						CACCTGCAGACCCCCATGTAT	0.428												
SMARCC2	6601	broad.mit.edu	37	12	56575376	56575376	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:56575376G>A	uc001skb.2	-	10	952	c.846C>T	c.(844-846)AAC>AAT	p.N282N	SMARCC2_uc001skd.2_Silent_p.N282N|SMARCC2_uc001ska.2_Silent_p.N282N|SMARCC2_uc001skc.2_Silent_p.N282N|SMARCC2_uc010sqf.1_Silent_p.N171N	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	282					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AATCTGGGCTGTTCACCTATA	0.473												
TIMELESS	8914	broad.mit.edu	37	12	56814799	56814799	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:56814799C>A	uc001slf.2	-	24	3156	c.2988G>T	c.(2986-2988)CAG>CAT	p.Q996H		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	996					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						CTAAGCTACCCTGGACTTGTT	0.498												
BAZ2A	11176	broad.mit.edu	37	12	56992956	56992956	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:56992956G>A	uc001slq.1	-	27	5559	c.5365C>T	c.(5365-5367)CGA>TGA	p.R1789*	BAZ2A_uc001slp.1_Nonsense_Mutation_p.R1787*|BAZ2A_uc001slo.1_Nonsense_Mutation_p.R595*|BAZ2A_uc009zov.1_Nonsense_Mutation_p.R755*|BAZ2A_uc009zow.1_Nonsense_Mutation_p.R1757*	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1789					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding				0						ATAGAGAGTCGCCGCCGCTTG	0.622												
C12orf66	144577	broad.mit.edu	37	12	64615816	64615816	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:64615816A>C	uc001srw.3	-	1	261	c.202T>G	c.(202-204)TAT>GAT	p.Y68D	uc001srx.2_5'Flank|C12orf66_uc009zql.2_Intron	NM_152440	NP_689653	Q96MD2	CL066_HUMAN	hypothetical protein LOC144577	68										ovary(1)	1						AGGCTGTGATAGACCTTCTCG	0.652												
C12orf66	144577	broad.mit.edu	37	12	64615836	64615836	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:64615836A>C	uc001srw.3	-	1	241	c.182T>G	c.(181-183)CTG>CGG	p.L61R	uc001srx.2_5'Flank|C12orf66_uc009zql.2_Intron	NM_152440	NP_689653	Q96MD2	CL066_HUMAN	hypothetical protein LOC144577	61										ovary(1)	1						GGCCGCGGCCAGGTGCGCCAA	0.637												
LEMD3	23592	broad.mit.edu	37	12	65639549	65639549	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:65639549C>T	uc001ssl.1	+	11	2494	c.2488C>T	c.(2488-2490)CGT>TGT	p.R830C	LEMD3_uc009zqo.1_Missense_Mutation_p.R829C	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	830	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			central_nervous_system(3)|ovary(1)	4			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		CAAAAATTCACGTGAGGTAAA	0.323												
CAPS2	84698	broad.mit.edu	37	12	75692742	75692742	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:75692742C>T	uc001sxk.3	-	11	1113	c.916G>A	c.(916-918)GGA>AGA	p.G306R	CAPS2_uc001sxm.3_Missense_Mutation_p.G74R|CAPS2_uc009zsa.2_Intron|CAPS2_uc001sxi.3_Intron|CAPS2_uc001sxj.3_Intron|CAPS2_uc001sxl.3_Missense_Mutation_p.G287R	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	306							calcium ion binding			ovary(2)	2						GCATCACGTCCATTACTGGAA	0.323												
CEP290	80184	broad.mit.edu	37	12	88477714	88477714	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:88477714C>T	uc001tar.2	-	36	5066	c.4722G>A	c.(4720-4722)GTG>GTA	p.V1574V	CEP290_uc001taq.2_Silent_p.V634V	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	1574	Potential.				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7						CATGTTTCTTCACAATTTCTC	0.308												
CDK17	5128	broad.mit.edu	37	12	96692660	96692660	+	Silent	SNP	T	T	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:96692660T>G	uc001tep.1	-	7	1191	c.702A>C	c.(700-702)ACA>ACC	p.T234T	CDK17_uc009ztk.2_Silent_p.T234T|CDK17_uc010svb.1_Silent_p.T181T	NM_002595	NP_002586	Q00537	CDK17_HUMAN	PCTAIRE protein kinase 2	234	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity			ovary(3)|lung(2)|kidney(1)|central_nervous_system(1)	7						CTCTTATAGCTGTGCAGGGTG	0.323												
TXNRD1	7296	broad.mit.edu	37	12	104705167	104705167	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:104705167T>C	uc010swk.1	+	5	536	c.514T>C	c.(514-516)TCA>CCA	p.S172P	TXNRD1_uc010swl.1_Missense_Mutation_p.S22P|TXNRD1_uc010swm.1_Missense_Mutation_p.S74P|TXNRD1_uc010swn.1_Missense_Mutation_p.S22P|TXNRD1_uc010swo.1_Missense_Mutation_p.S22P|TXNRD1_uc010swp.1_Intron|TXNRD1_uc010swq.1_Missense_Mutation_p.S72P|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Missense_Mutation_p.S88P|TXNRD1_uc001tko.1_RNA|TXNRD1_uc001tkp.1_RNA|TXNRD1_uc001tkv.1_RNA	NM_001093771	NP_001087240	Q16881	TRXR1_HUMAN	thioredoxin reductase 1 isoform 3	172					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity				0						TGGAGGTGGCTCAGGAGGTCT	0.478												
ALDH1L2	160428	broad.mit.edu	37	12	105464436	105464436	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:105464436T>C	uc001tlc.2	-	3	467	c.340A>G	c.(340-342)ATG>GTG	p.M114V	ALDH1L2_uc009zup.2_RNA	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	114	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			skin(1)	1						ATTATATCCATGGGAATGAAC	0.478												
KIAA1033	23325	broad.mit.edu	37	12	105540264	105540264	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:105540264A>G	uc001tld.2	+	23	2456	c.2369A>G	c.(2368-2370)CAT>CGT	p.H790R	KIAA1033_uc010swr.1_Missense_Mutation_p.H791R|KIAA1033_uc010sws.1_Missense_Mutation_p.H602R	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	hypothetical protein LOC23325	790					endosome transport	WASH complex				kidney(1)|central_nervous_system(1)	2						AGAAACATTCATATATTTGTG	0.294												
CKAP4	10970	broad.mit.edu	37	12	106633328	106633328	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:106633328G>A	uc001tlk.2	-	2	1367	c.1283C>T	c.(1282-1284)GCG>GTG	p.A428V		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	428	Potential.					ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction					0						GGTCTGGCGCGCAGAAGCCAC	0.662												
CUX2	23316	broad.mit.edu	37	12	111779614	111779614	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:111779614G>A	uc001tsa.1	+	21	3569	c.3416G>A	c.(3415-3417)AGC>AAC	p.S1139N		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	1139						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						GGCCTCATCAGCACCGGCTCA	0.652												
BRAP	8315	broad.mit.edu	37	12	112121078	112121078	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:112121078G>A	uc001tsn.3	-	2	310	c.116C>T	c.(115-117)ACG>ATG	p.T39M	BRAP_uc010syh.1_5'Flank|BRAP_uc009zvv.2_Missense_Mutation_p.T9M|ACAD10_uc009zvw.2_5'Flank|ACAD10_uc001tso.3_5'Flank|ACAD10_uc001tsp.2_5'Flank|ACAD10_uc009zvx.2_5'Flank|ACAD10_uc001tsq.2_5'Flank	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	39					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			lung(1)	1						GGCTAGTGTCGTCTTTTTTAT	0.433												
ACAD10	80724	broad.mit.edu	37	12	112182668	112182668	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:112182668C>T	uc001tsq.2	+	13	2136	c.1936C>T	c.(1936-1938)CAT>TAT	p.H646Y	ACAD10_uc001tsp.2_Missense_Mutation_p.H646Y|ACAD10_uc009zvx.2_Missense_Mutation_p.H677Y|ACAD10_uc001tss.1_RNA	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	646							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						TTCCCCAGCTCATACCTCAAG	0.572												
IQCD	115811	broad.mit.edu	37	12	113633445	113633445	+	Missense_Mutation	SNP	C	C	A	rs117969623	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:113633445C>A	uc001tuu.2	-	3	1151	c.979G>T	c.(979-981)GGC>TGC	p.G327C		NM_138451	NP_612460	Q96DY2	IQCD_HUMAN	IQ motif containing D	Error:Variant_position_missing_in_Q96DY2_after_alignment										ovary(1)	1						tttgctttgcccttgccccgc	0.378												
PLBD2	196463	broad.mit.edu	37	12	113821994	113821994	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:113821994C>T	uc001tve.2	+	7	1077	c.1042C>T	c.(1042-1044)CGC>TGC	p.R348C	PLBD2_uc001tvf.2_Missense_Mutation_p.R348C	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2 isoform 1	348					lipid catabolic process	lysosomal lumen	hydrolase activity				0						GGAGTGGGTACGCAACATCGT	0.617												
TAOK3	51347	broad.mit.edu	37	12	118636867	118636867	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:118636867C>T	uc001twx.2	-	13	1478	c.1183G>A	c.(1183-1185)GTG>ATG	p.V395M	TAOK3_uc001tww.2_Missense_Mutation_p.V225M|TAOK3_uc001twy.3_Missense_Mutation_p.V395M	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	395					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCTTATGCACGACGGAGGAG	0.468												
SUDS3	64426	broad.mit.edu	37	12	118852224	118852224	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:118852224C>T	uc001twz.2	+	12	1112	c.973C>T	c.(973-975)CGC>TGC	p.R325C		NM_022491	NP_071936	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3	325					chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GATCCGCCGGCGCTCAGCTGC	0.488												
CIT	11113	broad.mit.edu	37	12	120128233	120128233	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:120128233G>A	uc001txi.1	-	46	5836	c.5783C>T	c.(5782-5784)ACG>ATG	p.T1928M	CIT_uc001txh.1_Missense_Mutation_p.T1446M|CIT_uc001txj.1_Missense_Mutation_p.T1970M	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	1928					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)		CTCGTTGTACGTGGGTGGGCC	0.662												
GCN1L1	10985	broad.mit.edu	37	12	120591043	120591043	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:120591043C>T	uc001txo.2	-	33	4049	c.4036G>A	c.(4036-4038)GCT>ACT	p.A1346T		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	1346	HEAT 6.				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAGAGGGCAGCGATGAGCTTG	0.597												
CCDC62	84660	broad.mit.edu	37	12	123286259	123286259	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:123286259A>G	uc001udc.2	+	9	1711	c.1566A>G	c.(1564-1566)ATA>ATG	p.I522M	CCDC62_uc010tah.1_RNA|CCDC62_uc001udf.2_Missense_Mutation_p.I522M|CCDC62_uc001ude.2_Missense_Mutation_p.I283M	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62 isoform b	522						cytoplasm|nucleus				ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		GTAACTTCATAATTGAAGCCC	0.493												
ABCB9	23457	broad.mit.edu	37	12	123433334	123433334	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:123433334C>T	uc001udm.3	-	5	1200	c.890G>A	c.(889-891)AGC>AAC	p.S297N	ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Missense_Mutation_p.S297N|ABCB9_uc010taj.1_Missense_Mutation_p.S297N|ABCB9_uc001udp.2_Missense_Mutation_p.S297N|ABCB9_uc001udq.2_Missense_Mutation_p.S79N|ABCB9_uc001udr.2_Missense_Mutation_p.S297N	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	297	ABC transmembrane type-1.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GACCAGGTCGCTGACCATGGT	0.617												
MPHOSPH9	10198	broad.mit.edu	37	12	123687402	123687402	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:123687402G>A	uc001uel.2	-	6	1201	c.1094C>T	c.(1093-1095)CCG>CTG	p.P365L	MPHOSPH9_uc010tal.1_Intron|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Intron	NM_022782	NP_073619	Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	365					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)		AGAGTCCACCGGAGAAGCTTT	0.408												
C12orf65	91574	broad.mit.edu	37	12	123741554	123741554	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:123741554G>T	uc001uen.2	+	3	743	c.477G>T	c.(475-477)TGG>TGT	p.W159C	C12orf65_uc001ueo.2_RNA|C12orf65_uc010tan.1_Missense_Mutation_p.W159C	NM_152269	NP_689482	Q9H3J6	CL065_HUMAN	hypothetical protein LOC91574	159	Potential.					mitochondrion	translation release factor activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000595)|Epithelial(86;0.00199)		AAGAACTGTGGGAGTCAAGTA	0.313												
DDX55	57696	broad.mit.edu	37	12	124102324	124102324	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:124102324G>A	uc001ufi.2	+	11	1093	c.1069G>A	c.(1069-1071)GGT>AGT	p.G357S	DDX55_uc001ufh.2_Missense_Mutation_p.G210S|DDX55_uc001ufj.1_Missense_Mutation_p.G210S|DDX55_uc001ufk.2_Missense_Mutation_p.G210S|DDX55_uc001ufl.2_5'Flank	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	357	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		GCATCGCTGCGGTCGCACAGC	0.517												
NCOR2	9612	broad.mit.edu	37	12	124812140	124812140	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:124812140G>A	uc010tay.1	-	47	7184	c.7028C>T	c.(7027-7029)GCC>GTC	p.A2343V	NCOR2_uc010taz.1_Missense_Mutation_p.A2327V|NCOR2_uc010tax.1_Intron	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 1	2344					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTTGGTGCTGGCATGTTCCTG	0.512												
SCARB1	949	broad.mit.edu	37	12	125292364	125292364	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:125292364C>T	uc001ugo.3	-	7	1205	c.952G>A	c.(952-954)GAA>AAA	p.E318K	SCARB1_uc001ugn.3_Missense_Mutation_p.E318K|SCARB1_uc001ugm.3_Missense_Mutation_p.E318K|SCARB1_uc010tbd.1_Missense_Mutation_p.E318K|SCARB1_uc010tbe.1_Missense_Mutation_p.E277K|SCARB1_uc001ugp.3_Missense_Mutation_p.E318K	NM_005505	NP_005496	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1 isoform 1	318	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)	CAGAAGCCTTCGTTGGGTGGG	0.587												
BRI3BP	140707	broad.mit.edu	37	12	125509930	125509930	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:125509930G>A	uc001uha.1	+	3	853	c.710G>A	c.(709-711)CGT>CAT	p.R237H		NM_080626	NP_542193	Q8WY22	BRI3B_HUMAN	BRI3-binding protein	237	Potential.					integral to membrane|mitochondrial outer membrane				ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		CTCAACATCCGTCTCAACCGG	0.537												
TMEM132B	114795	broad.mit.edu	37	12	126137090	126137090	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:126137090T>C	uc001uhe.1	+	8	2011	c.2003T>C	c.(2002-2004)ATG>ACG	p.M668T	TMEM132B_uc001uhf.1_Missense_Mutation_p.M180T	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	668	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTAGCTGGCATGTCTCTCTCC	0.597												
GLT1D1	144423	broad.mit.edu	37	12	129383782	129383782	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:129383782T>G	uc010tbh.1	+	4	301	c.292T>G	c.(292-294)TTT>GTT	p.F98V	GLT1D1_uc001uhx.1_Missense_Mutation_p.F109V|GLT1D1_uc001uhy.1_Intron	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	109					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		ATTTACTAGATTTGCTGTCGC	0.363												
TMEM132D	121256	broad.mit.edu	37	12	130184752	130184752	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:130184752G>A	uc009zyl.1	-	2	899	c.571C>T	c.(571-573)CTG>TTG	p.L191L		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	191	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCCACGCACAGCCCCAGGTCC	0.716												
GPR133	283383	broad.mit.edu	37	12	131569208	131569208	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:131569208G>T	uc001uit.3	+	15	2230	c.1671G>T	c.(1669-1671)GAG>GAT	p.E557D	GPR133_uc010tbm.1_Missense_Mutation_p.E589D|GPR133_uc009zyo.2_Missense_Mutation_p.E7D|GPR133_uc001uiv.1_Missense_Mutation_p.E76D	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	557	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)		TCCCGCTGGAGGTAAGAGCCA	0.662												
ULK1	8408	broad.mit.edu	37	12	132394519	132394519	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:132394519C>T	uc001uje.2	+	10	1049	c.781C>T	c.(781-783)CGC>TGC	p.R261C		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	261	Protein kinase.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCTACTGCAACGCAACCACAA	0.687												
P2RX2	22953	broad.mit.edu	37	12	133195509	133195509	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:133195509T>C	uc001ukj.1	+	1	107	c.107T>C	c.(106-108)GTG>GCG	p.V36A	P2RX2_uc001uki.1_Missense_Mutation_p.V36A|P2RX2_uc001ukk.1_Missense_Mutation_p.V36A|P2RX2_uc001ukl.1_Missense_Mutation_p.V36A|P2RX2_uc001ukm.1_Splice_Site_p.V35_splice|P2RX2_uc001ukn.1_Splice_Site_p.V35_splice|P2RX2_uc009zyt.1_Missense_Mutation_p.V36A|P2RX2_uc001uko.1_Missense_Mutation_p.V36A	NM_170682	NP_733782	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X2 isoform A	36	Cytoplasmic (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		GTGATCGTGGTGAGGAACCGG	0.433												
POLE	5426	broad.mit.edu	37	12	133257271	133257271	+	Silent	SNP	G	G	A	rs146986360	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:133257271G>A	uc001uks.1	-	3	251	c.207C>T	c.(205-207)ACC>ACT	p.T69T	POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Intron	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	69					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CTAAAATCTCGGTCTACAAGA	0.428								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
ATP12A	479	broad.mit.edu	37	13	25262530	25262530	+	Missense_Mutation	SNP	C	C	T	rs146927457		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:25262530C>T	uc001upp.2	+	4	489	c.302C>T	c.(301-303)ACG>ATG	p.T101M	ATP12A_uc010aaa.2_Missense_Mutation_p.T101M	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	101	Cytoplasmic (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CCCAAGCAGACGCCTGAGATC	0.587												
ATP12A	479	broad.mit.edu	37	13	25265317	25265317	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:25265317C>A	uc001upp.2	+	8	1184	c.997C>A	c.(997-999)CTG>ATG	p.L333M	ATP12A_uc010aaa.2_Missense_Mutation_p.L339M	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	333	Lumenal (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GTATCAAGTCCTGGACTCCAT	0.527												
ATP12A	479	broad.mit.edu	37	13	25266681	25266681	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:25266681A>G	uc001upp.2	+	9	1370	c.1183A>G	c.(1183-1185)ACA>GCA	p.T395A	ATP12A_uc010aaa.2_Missense_Mutation_p.T401A	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	395	Cytoplasmic (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CAAGACTGGGACACTGACCCA	0.532												
CENPJ	55835	broad.mit.edu	37	13	25478079	25478079	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:25478079G>A	uc001upt.3	-	8	3063	c.2810C>T	c.(2809-2811)GCC>GTC	p.A937V	CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA|CENPJ_uc001upu.2_5'UTR	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	centromere protein J	937					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)		TTTTTCCAAGGCACTTTCTCG	0.353												
RASL11A	387496	broad.mit.edu	37	13	27845850	27845850	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:27845850G>A	uc001urd.1	+	3	874	c.256G>A	c.(256-258)GTC>ATC	p.V86I		NM_206827	NP_996563	Q6T310	RSLBA_HUMAN	RAS-like, family 11, member A	86	Small GTPase-like.				positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity			breast(1)	1		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		TCCCGGGGGCGTCCAGGTAAG	0.622											OREG0022312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
UBL3	5412	broad.mit.edu	37	13	30341433	30341433	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:30341433G>A	uc001usp.2	-	5	1458	c.313C>T	c.(313-315)CGT>TGT	p.R105C		NM_007106	NP_009037	O95164	UBL3_HUMAN	ubiquitin-like 3 precursor	105						intracellular|plasma membrane					0		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		GTCTTCTCACGATTCCTCTGA	0.423												
HSPH1	10808	broad.mit.edu	37	13	31712653	31712653	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:31712653G>T	uc001utj.2	-	17	2659	c.2261C>A	c.(2260-2262)TCT>TAT	p.S754Y	HSPH1_uc001utk.2_Missense_Mutation_p.S710Y|HSPH1_uc010aaw.2_Missense_Mutation_p.S713Y|HSPH1_uc001utl.2_Missense_Mutation_p.S756Y|HSPH1_uc010tds.1_Missense_Mutation_p.S678Y	NM_006644	NP_006635	Q92598	HS105_HUMAN	heat shock 105kD	754					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding				0		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TTCATTAACAGACTTCTCCAC	0.343												
STARD13	90627	broad.mit.edu	37	13	33685010	33685010	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:33685010G>A	uc001uuw.2	-	11	2768	c.2642C>T	c.(2641-2643)TCG>TTG	p.S881L	STARD13_uc001uuu.2_Missense_Mutation_p.S873L|STARD13_uc001uuv.2_Missense_Mutation_p.S763L|STARD13_uc001uux.2_Missense_Mutation_p.S846L|STARD13_uc010tec.1_RNA	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	881					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CTCCACATACGAGTTACGAGA	0.532												
SLC25A15	10166	broad.mit.edu	37	13	41381560	41381560	+	Silent	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:41381560C>A	uc001uxn.2	+	5	905	c.583C>A	c.(583-585)CGG>AGG	p.R195R	SUGT1L1_uc001uxp.1_Intron|SLC25A15_uc010tfb.1_Silent_p.R101R|SUGT1L1_uc001uxo.1_RNA	NM_014252	NP_055067	Q9Y619	ORNT1_HUMAN	mitochondrial ornithine transporter 1	195	Solcar 2.				cellular amino acid metabolic process|mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity				0		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	L-Ornithine(DB00129)	TGAACTGAGCCGGTCCTTTTT	0.468												
ZC3H13	23091	broad.mit.edu	37	13	46541933	46541933	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:46541933G>A	uc010tfw.1	-	14	4033	c.4027C>T	c.(4027-4029)CGA>TGA	p.R1343*	ZC3H13_uc001vaq.2_Translation_Start_Site|ZC3H13_uc001vas.1_Nonsense_Mutation_p.R1343*	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1343	Potential.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		tctcgttctcgttctcgcaat	0.03												
CCDC70	83446	broad.mit.edu	37	13	52439918	52439918	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:52439918T>G	uc001vfu.3	+	2	700	c.404T>G	c.(403-405)TTC>TGC	p.F135C	uc010tgr.1_RNA	NM_031290	NP_112580	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70 precursor	135						extracellular region|plasma membrane					0		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GATAAGGCCTTCTGGAAAGAG	0.473												
UTP14C	9724	broad.mit.edu	37	13	52603136	52603136	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:52603136G>T	uc001vgb.2	+	2	731	c.196G>T	c.(196-198)GCT>TCT	p.A66S	UTP14C_uc001vga.2_3'UTR|UTP14C_uc001vgc.2_RNA	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	66					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				ovary(3)|large_intestine(1)|breast(1)	5		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GAGGTCTGAGGCTAGTCTGAA	0.463												
SLITRK1	114798	broad.mit.edu	37	13	84455202	84455202	+	Silent	SNP	C	C	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:84455202C>G	uc001vlk.2	-	1	1327	c.441G>C	c.(439-441)CCG>CCC	p.P147P		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	147	LRR 4.|Extracellular (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGAAGGCCCCCGGGTCTATAT	0.463												
UGGT2	55757	broad.mit.edu	37	13	96536762	96536762	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:96536762T>C	uc001vmt.2	-	27	3381	c.3211A>G	c.(3211-3213)AAT>GAT	p.N1071D	UGGT2_uc001vmu.1_Missense_Mutation_p.N158D	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	UDP-glucose ceramide glucosyltransferase-like 2	1071					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			ovary(2)|central_nervous_system(1)	3						AAGTGAATATTATCAAGGTCA	0.353												
NALCN	259232	broad.mit.edu	37	13	101720335	101720335	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:101720335G>A	uc001vox.1	-	39	4570	c.4381C>T	c.(4381-4383)CTT>TTT	p.L1461F		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1461	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAACTTAAAAGCTGGTCCTCC	0.368												
COL4A2	1284	broad.mit.edu	37	13	111077160	111077160	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:111077160A>G	uc001vqx.2	+	5	549	c.260A>G	c.(259-261)AAA>AGA	p.K87R		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	87					angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CAGGGACGTAAAGGAGACAAG	0.632												
GAS6	2621	broad.mit.edu	37	13	114535710	114535710	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:114535710C>T	uc001vud.2	-	9	1003	c.850G>A	c.(850-852)GTG>ATG	p.V284M	GAS6_uc001vug.2_Translation_Start_Site|GAS6_uc001vuf.2_Missense_Mutation_p.V11M	NM_000820	NP_000811	Q14393	GAS6_HUMAN	growth arrest-specific 6 isoform 1 precursor	327					cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)	4	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CTGAAGGGCACGCACGGCAAG	0.687												
OR4Q3	441669	broad.mit.edu	37	14	20216082	20216082	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:20216082C>A	uc010tkt.1	+	1	496	c.496C>A	c.(496-498)CAG>AAG	p.Q166K		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q,	166	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACTAGTCATCCAGCTGCCTTT	0.507												
C14orf93	60686	broad.mit.edu	37	14	23467754	23467754	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:23467754C>T	uc001wib.1	-	2	789	c.479G>A	c.(478-480)CGG>CAG	p.R160Q	C14orf93_uc001wic.1_5'UTR|C14orf93_uc001wid.1_Missense_Mutation_p.R160Q|C14orf93_uc001wig.2_Missense_Mutation_p.R160Q|C14orf93_uc001wih.2_Missense_Mutation_p.R160Q|C14orf93_uc001wie.2_Missense_Mutation_p.R160Q|C14orf93_uc001wia.3_Missense_Mutation_p.R160Q|C14orf93_uc001wif.2_5'UTR	NM_021944	NP_068763	Q9H972	CN093_HUMAN	hypothetical protein LOC60686 precursor	160						extracellular region				ovary(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		TCCCAGCTGCCGCAGCTCCTC	0.657												
HOMEZ	57594	broad.mit.edu	37	14	23745515	23745515	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:23745515G>A	uc001wja.2	-	2	1070	c.922C>T	c.(922-924)CCA>TCA	p.P308S	HOMEZ_uc001wjb.2_Missense_Mutation_p.P310S	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN	homeodomain leucine zipper protein	308						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CAGCCTAGTGGCTGGAGGGGT	0.552												
MYH7	4625	broad.mit.edu	37	14	23898213	23898213	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:23898213C>T	uc001wjx.2	-	14	1464	c.1358G>A	c.(1357-1359)CGC>CAC	p.R453H		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	453	Myosin head-like.		R -> C (in CMH1).|R -> H (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GAAGTACTGGCGTGGCTGCTT	0.552												
LRRC16B	90668	broad.mit.edu	37	14	24523631	24523631	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:24523631G>T	uc001wlj.2	+	5	430	c.273G>T	c.(271-273)ATG>ATT	p.M91I		NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	91										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		AGCGTGGCATGGTGAGCATGC	0.627												
NOVA1	4857	broad.mit.edu	37	14	26917185	26917185	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:26917185T>C	uc001wpy.2	-	5	1822	c.1504A>G	c.(1504-1506)AAT>GAT	p.N502D	NOVA1_uc001wpz.2_Missense_Mutation_p.N478D|NOVA1_uc001wqa.2_Missense_Mutation_p.N380D	NM_002515	NP_002506	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1 isoform 1	505					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5				GBM - Glioblastoma multiforme(265;0.0135)		TTCTGAGGATTGGCAGCCCGA	0.443												
MIPOL1	145282	broad.mit.edu	37	14	37838737	37838737	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:37838737C>T	uc001wuc.2	+	11	1347	c.844C>T	c.(844-846)CAG>TAG	p.Q282*	MIPOL1_uc010amr.2_Intron|MIPOL1_uc001wub.3_Nonsense_Mutation_p.Q251*|MIPOL1_uc001wud.2_Nonsense_Mutation_p.Q282*|MIPOL1_uc010ams.2_Nonsense_Mutation_p.Q282*|MIPOL1_uc001wue.2_Nonsense_Mutation_p.Q251*|MIPOL1_uc010amt.2_Nonsense_Mutation_p.Q101*	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	282	Potential.									ovary(1)|central_nervous_system(1)	2	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		ACGGTTAGAGCAGGAGCTTCA	0.393												
L2HGDH	79944	broad.mit.edu	37	14	50734531	50734531	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:50734531C>T	uc001wxu.2	-	8	1083	c.1004G>A	c.(1003-1005)CGA>CAA	p.R335Q	L2HGDH_uc010tqn.1_Missense_Mutation_p.R335Q|L2HGDH_uc010tqo.1_Missense_Mutation_p.R335Q	NM_024884	NP_079160	Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase precursor	335					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			ovary(2)	2	all_epithelial(31;0.000599)|Breast(41;0.0102)					GTAACCCTCTCGTTTAAAGGC	0.388												
SYNE2	23224	broad.mit.edu	37	14	64653220	64653220	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:64653220G>A	uc001xgm.2	+	97	17865	c.17635G>A	c.(17635-17637)GTT>ATT	p.V5879I	SYNE2_uc001xgl.2_Missense_Mutation_p.V5879I|SYNE2_uc010apy.2_Missense_Mutation_p.V2264I|SYNE2_uc001xgn.2_Missense_Mutation_p.V841I|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_5'UTR|SYNE2_uc001xgq.2_Missense_Mutation_p.V244I	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5879	Spectrin 4.|Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AACCCGGCACGTTCTCGTGGA	0.468												
PLEK2	26499	broad.mit.edu	37	14	67862233	67862233	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:67862233C>T	uc001xjh.1	-	3	327	c.275G>A	c.(274-276)CGG>CAG	p.R92Q		NM_016445	NP_057529	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	92	PH 1.				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane				ovary(1)|pancreas(1)	2				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		CCAGGCATCCCGCTCCTCTCG	0.592												
SIPA1L1	26037	broad.mit.edu	37	14	72056033	72056033	+	Missense_Mutation	SNP	G	G	A	rs148152996		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:72056033G>A	uc001xms.2	+	2	1792	c.1444G>A	c.(1444-1446)GTG>ATG	p.V482M	SIPA1L1_uc001xmt.2_Missense_Mutation_p.V482M|SIPA1L1_uc001xmu.2_Missense_Mutation_p.V482M|SIPA1L1_uc001xmv.2_Missense_Mutation_p.V482M	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	482					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)		AAGATACATCGTGGAACACGT	0.398												
LTBP2	4053	broad.mit.edu	37	14	75078312	75078312	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:75078312C>T	uc001xqa.2	-	1	723	c.336G>A	c.(334-336)TCG>TCA	p.S112S		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	112					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)		GGACACGCCGCGACTGCTGCG	0.781												
TTLL5	23093	broad.mit.edu	37	14	76219283	76219283	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:76219283G>A	uc001xrx.2	+	18	1740	c.1535G>A	c.(1534-1536)CGC>CAC	p.R512H	TTLL5_uc010ask.1_Missense_Mutation_p.R526H|TTLL5_uc001xrz.2_Missense_Mutation_p.R74H|TTLL5_uc001xry.1_RNA	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	512					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		CTGGCAACACGCCTCTTCCAG	0.373												
C14orf145	145508	broad.mit.edu	37	14	80993231	80993231	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:80993231G>A	uc001xux.2	-	22	3225	c.3054C>T	c.(3052-3054)TAC>TAT	p.Y1018Y	C14orf145_uc010asz.1_RNA	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	1018						centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)		TTTTGGTTCTGTACTTGGTGT	0.378												
FLRT2	23768	broad.mit.edu	37	14	86089507	86089507	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:86089507C>T	uc001xvr.2	+	2	2416	c.1649C>T	c.(1648-1650)GCG>GTG	p.A550V	FLRT2_uc010atd.2_Missense_Mutation_p.A550V	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	550	Helical; (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ATCGGGGGCGCGGTGATATTT	0.587												
TTC7B	145567	broad.mit.edu	37	14	91142956	91142956	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:91142956G>A	uc001xyp.2	-	9	1185	c.1063C>T	c.(1063-1065)CGC>TGC	p.R355C	TTC7B_uc010ats.2_RNA	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	355							binding			ovary(2)	2		Melanoma(154;0.222)				CTGATGAGGCGGTCACTCTTG	0.502												
SLC24A4	123041	broad.mit.edu	37	14	92920308	92920308	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:92920308C>T	uc001yak.2	+	11	918	c.894C>T	c.(892-894)AGC>AGT	p.S298S	SLC24A4_uc001yai.2_Silent_p.S251S|SLC24A4_uc010twm.1_Silent_p.S296S|SLC24A4_uc001yaj.2_Silent_p.S279S|SLC24A4_uc010auj.2_Silent_p.S187S|SLC24A4_uc010twn.1_Silent_p.S71S|SLC24A4_uc001yan.2_Silent_p.S9S	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1	315	Extracellular (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(2)|ovary(1)	3		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TGAGCTCCAGCCCTCCCAAGT	0.517												
KIAA1409	57578	broad.mit.edu	37	14	94173133	94173133	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:94173133G>A	uc001ybv.1	+	48	7409	c.7326G>A	c.(7324-7326)TCG>TCA	p.S2442S	KIAA1409_uc001ybs.1_Silent_p.S2420S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	2597						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)		TGCCGGGCTCGGGCCAGAGCA	0.597												
EML1	2009	broad.mit.edu	37	14	100405583	100405583	+	Silent	SNP	G	G	T	rs61986043		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:100405583G>T	uc001ygs.2	+	21	2310	c.2241G>T	c.(2239-2241)CGG>CGT	p.R747R	EML1_uc010tww.1_Silent_p.R735R|EML1_uc001ygr.2_Silent_p.R766R	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	747	WD 10.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CCGTCTGTCGGGCCCATGAGA	0.552												
CDC42BPB	9578	broad.mit.edu	37	14	103435030	103435030	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:103435030C>T	uc001ymi.1	-	15	2251	c.2019G>A	c.(2017-2019)GCG>GCA	p.A673A		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	673	Potential.				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)		AGGTGGCACCCGCTCCCCGGC	0.473												
JAG2	3714	broad.mit.edu	37	14	105634420	105634420	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:105634420C>T	uc001yqg.2	-	2	495	c.91G>A	c.(91-93)GAG>AAG	p.E31K	JAG2_uc001yqh.2_Missense_Mutation_p.E31K	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	jagged 2 isoform a precursor	31	Extracellular (Potential).				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			lung(3)|breast(2)	5		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AGCTGCAGCTCGAAATAGCCC	0.547												
ATP10A	57194	broad.mit.edu	37	15	25959016	25959016	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:25959016G>A	uc010ayu.2	-	10	2255	c.2149C>T	c.(2149-2151)CGG>TGG	p.R717W		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	717	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCGTGCAGCCGCTCCACAAGC	0.642												
OCA2	4948	broad.mit.edu	37	15	28230313	28230313	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:28230313G>A	uc001zbh.3	-	13	1371	c.1261C>T	c.(1261-1263)CGG>TGG	p.R421W	OCA2_uc010ayv.2_Missense_Mutation_p.R397W	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	421	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)		GCCCACACCCGTCCCCGGGAG	0.572									Oculocutaneous_Albinism			
HERC2	8924	broad.mit.edu	37	15	28482137	28482137	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:28482137C>T	uc001zbj.2	-	26	4081	c.3975G>A	c.(3973-3975)CCG>CCA	p.P1325P		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	1325					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAGGAGACAGCGGTGTGCTCA	0.448												
TJP1	7082	broad.mit.edu	37	15	30092850	30092850	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:30092850C>A	uc001zcr.2	-	2	558	c.83G>T	c.(82-84)AGG>ATG	p.R28M	TJP1_uc010azl.2_Missense_Mutation_p.R16M|TJP1_uc001zcq.2_Missense_Mutation_p.R32M|TJP1_uc001zcs.2_Missense_Mutation_p.R28M	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	28	PDZ 1.				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)		CAAACTTACCCTGTGAAGCGT	0.398												
RYR3	6263	broad.mit.edu	37	15	34040421	34040421	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:34040421G>A	uc001zhi.2	+	54	8166	c.8096G>A	c.(8095-8097)CGG>CAG	p.R2699Q	RYR3_uc010bar.2_Missense_Mutation_p.R2699Q	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2699	3.|Cytoplasmic (By similarity).|4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTTCAACAGCGGGAAAATGAG	0.562												
C15orf55	256646	broad.mit.edu	37	15	34642991	34642991	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:34642991C>T	uc001zif.2	+	3	967	c.812C>T	c.(811-813)ACC>ATC	p.T271I	C15orf55_uc010ucc.1_Missense_Mutation_p.T299I|C15orf55_uc010ucd.1_Missense_Mutation_p.T289I	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	271						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		TGGGAGCACACCAGCAACTTT	0.552			T	BRD3|BRD4	lethal midline carcinoma							
VPS18	57617	broad.mit.edu	37	15	41191772	41191772	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:41191772G>A	uc001zne.2	+	4	1095	c.756G>A	c.(754-756)ACG>ACA	p.T252T		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	252					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)		CAGCTTACACGGACCACCCAC	0.622												
INO80	54617	broad.mit.edu	37	15	41277580	41277580	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:41277580G>A	uc001zni.2	-	32	4090	c.3877C>T	c.(3877-3879)CGA>TGA	p.R1293*	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	1293	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4						TCTTTCACTCGGTTGGTTTCC	0.488												
MAPKBP1	23005	broad.mit.edu	37	15	42105142	42105142	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:42105142G>A	uc001zok.3	+	8	948	c.662G>A	c.(661-663)GGC>GAC	p.G221D	MAPKBP1_uc001zoj.3_Missense_Mutation_p.G221D|MAPKBP1_uc010bcj.2_5'UTR|MAPKBP1_uc010bci.2_Missense_Mutation_p.G221D|MAPKBP1_uc010udb.1_Missense_Mutation_p.G109D|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_5'UTR	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	221										central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCCTTGCTGGGCCGCTCAGGG	0.592												
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42134087	42134087	+	Silent	SNP	T	T	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:42134087T>A	uc010bco.2	+	8	662	c.561T>A	c.(559-561)ACT>ACA	p.T187T	JMJD7-PLA2G4B_uc001zoo.3_Silent_p.T418T|JMJD7-PLA2G4B_uc010bcn.2_Silent_p.T418T|JMJD7-PLA2G4B_uc001zoq.3_5'UTR|JMJD7-PLA2G4B_uc001zor.1_5'Flank	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN	phospholipase A2, group IVB	187					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			large_intestine(1)	1						CTGTGGGCACTGGCACCTTCC	0.632												
CDAN1	146059	broad.mit.edu	37	15	43028259	43028259	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:43028259C>A	uc001zql.2	-	3	704	c.587G>T	c.(586-588)AGG>ATG	p.R196M	CDAN1_uc001zqk.2_5'Flank|CDAN1_uc010bcx.1_5'Flank|uc001zqm.2_5'Flank	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	196						integral to membrane	protein binding			ovary(2)	2		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		TGGGTTGATCCTGCGAGAAGG	0.552												
TUBGCP4	27229	broad.mit.edu	37	15	43675579	43675579	+	Silent	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:43675579T>C	uc001zro.2	+	7	840	c.600T>C	c.(598-600)CAT>CAC	p.H200H	TUBGCP4_uc001zrn.2_Silent_p.H200H|TUBGCP4_uc010bdh.2_RNA	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	200					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			ovary(3)	3		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TGGACCAGCATGAAGAATTCT	0.507												
MAP1A	4130	broad.mit.edu	37	15	43815140	43815140	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:43815140G>A	uc001zrt.2	+	4	1936	c.1469G>A	c.(1468-1470)CGT>CAT	p.R490H		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	490	Lys-rich (basic).|9 X 3 AA repeats of K-K-[DE].					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GACAGGAGCCGTGCTATCCGT	0.542												
DUOXA2	405753	broad.mit.edu	37	15	45409435	45409435	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:45409435C>T	uc001zuo.2	+	5	981	c.701C>T	c.(700-702)CCG>CTG	p.P234L	DUOXA2_uc010beb.2_RNA	NM_207581	NP_997464	Q1HG44	DOXA2_HUMAN	dual oxidase activator 2	234	Extracellular (Potential).				protein transport	endoplasmic reticulum membrane|integral to membrane					0		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;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		CCGCTCTGCCCGCTCCGCCTA	0.701												
GATM	2628	broad.mit.edu	37	15	45660384	45660384	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:45660384G>A	uc001zvc.2	-	4	888	c.559C>T	c.(559-561)CGT>TGT	p.R187C	GATM_uc001zvb.2_Missense_Mutation_p.R58C|GATM_uc010uev.1_Missense_Mutation_p.R240C	NM_001482	NP_001473	P50440	GATM_HUMAN	L-arginine:glycine amidinotransferase precursor	187					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding				0		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	AAGCGTGAACGCCATGCCATG	0.488												
SEMA6D	80031	broad.mit.edu	37	15	48052032	48052032	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:48052032C>T	uc010bek.2	+	2	397	c.37C>T	c.(37-39)CTG>TTG	p.L13L	SEMA6D_uc001zvw.2_Silent_p.L13L|SEMA6D_uc001zvx.1_Silent_p.L13L|SEMA6D_uc001zvy.2_Silent_p.L13L|SEMA6D_uc001zvz.2_Silent_p.L13L|SEMA6D_uc001zwa.2_Silent_p.L13L|SEMA6D_uc001zwb.2_Silent_p.L13L|SEMA6D_uc001zwc.2_Silent_p.L13L	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	13					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CATACTGCTGCTGATGGTTTC	0.498												
FBN1	2200	broad.mit.edu	37	15	48782150	48782150	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:48782150C>T	uc001zwx.1	-	25	3308	c.2980G>A	c.(2980-2982)GAG>AAG	p.E994K		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	994	TB 5.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGACACTCCTCGCATTCCTCA	0.567												
C15orf33	196951	broad.mit.edu	37	15	49907322	49907322	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:49907322G>T	uc001zxl.2	-	2	341	c.47C>A	c.(46-48)CCC>CAC	p.P16H	C15orf33_uc001zxm.2_Missense_Mutation_p.P16H	NM_152647	NP_689860	Q96M60	CO033_HUMAN	hypothetical protein LOC196951	16										ovary(1)	1		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)		CCTTACCCCGGGGCCAGCTCT	0.463												
SLC27A2	11001	broad.mit.edu	37	15	50474821	50474821	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:50474821C>T	uc001zxw.2	+	1	429	c.197C>T	c.(196-198)ACG>ATG	p.T66M	SLC27A2_uc010bes.2_Missense_Mutation_p.T66M	NM_003645	NP_003636	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid	66	Cytoplasmic (Potential).				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			ovary(1)|skin(1)	2		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GCGCGCCAGACGCCACACAAG	0.687												
GABPB1	2553	broad.mit.edu	37	15	50570857	50570857	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:50570857C>T	uc001zyb.2	-	9	1584	c.1160G>A	c.(1159-1161)CGT>CAT	p.R387H	GABPB1_uc001zya.2_Missense_Mutation_p.R375H|GABPB1_uc010ufg.1_Missense_Mutation_p.R311H	NM_005254	NP_005245	Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta	387					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)	1						AGTCTGAAGACGAGTCATAGC	0.373												
SCG3	29106	broad.mit.edu	37	15	52011689	52011689	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:52011689C>T	uc002abh.2	+	12	1781	c.1373C>T	c.(1372-1374)GCC>GTC	p.A458V	SCG3_uc010ufz.1_Missense_Mutation_p.A226V	NM_013243	NP_037375	Q8WXD2	SCG3_HUMAN	secretogranin III isoform 1 precursor	458					platelet activation|platelet degranulation	extracellular region|stored secretory granule				ovary(1)	1				all cancers(107;0.00488)		AAGGAAGAAGCCGAGGCCATC	0.368												
PRTG	283659	broad.mit.edu	37	15	55971645	55971645	+	Splice_Site	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:55971645T>C	uc002adg.2	-	7	1022	c.974_splice	c.e7-1	p.A325_splice		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	protogenin precursor						multicellular organismal development	integral to membrane				large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AAGGAGGAGCTATTTTTAAAG	0.413												
RFX7	64864	broad.mit.edu	37	15	56386864	56386864	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:56386864C>A	uc010bfn.2	-	9	3062	c.3062G>T	c.(3061-3063)AGG>ATG	p.R1021M	RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Missense_Mutation_p.R835M	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	regulatory factor X domain containing 2	924					regulation of transcription, DNA-dependent	nucleus	DNA binding				0						AAACGGATTCCTGCATTCAAC	0.498												
FAM63B	54629	broad.mit.edu	37	15	59080107	59080107	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:59080107G>A	uc002afj.2	+	2	1045	c.843G>A	c.(841-843)GTG>GTA	p.V281V	FAM63B_uc002afi.2_Silent_p.V281V|FAM63B_uc002afk.2_RNA|FAM63B_uc002afl.2_RNA	NM_001040450	NP_001035540	Q8NBR6	FA63B_HUMAN	hypothetical protein LOC54629 isoform a	281										central_nervous_system(1)	1						TTTTTCAGGTGAAACTTCCAC	0.289												
FOXB1	27023	broad.mit.edu	37	15	60297902	60297902	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:60297902C>T	uc002agj.1	+	2	1219	c.740C>T	c.(739-741)CCG>CTG	p.P247L	FOXB1_uc010bgh.1_Intron	NM_012182	NP_036314	Q99853	FOXB1_HUMAN	forkhead box B1	247					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						CCGTTGAAGCCGCTGTGCCAC	0.721												
TLN2	83660	broad.mit.edu	37	15	63004189	63004189	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:63004189C>T	uc002alb.3	+	19	2547	c.2547C>T	c.(2545-2547)GCC>GCT	p.A849A		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	849					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						ATGCAGAAGCCGAAATCGACA	0.517												
LACTB	114294	broad.mit.edu	37	15	63433525	63433525	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:63433525G>A	uc002alw.2	+	6	1204	c.1165G>A	c.(1165-1167)GTG>ATG	p.V389M		NM_032857	NP_116246	P83111	LACTB_HUMAN	lactamase, beta isoform a	389						mitochondrion	hydrolase activity				0						CACACCTTACGTGGATAACTC	0.373												
HERC1	8925	broad.mit.edu	37	15	63918223	63918223	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:63918223G>A	uc002amp.2	-	71	13384	c.13236C>T	c.(13234-13236)TAC>TAT	p.Y4412Y		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	4412					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						TCCAGGATGAGTACATGAGGT	0.592												
SNX1	6642	broad.mit.edu	37	15	64419453	64419453	+	Splice_Site	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:64419453T>C	uc002amv.2	+	7	767	c.731_splice	c.e7+2	p.R244_splice	SNX1_uc010bgv.2_Splice_Site|SNX1_uc010uio.1_Splice_Site_p.R244_splice|SNX1_uc002amw.2_Splice_Site_p.R244_splice|SNX1_uc002amx.2_Splice_Site_p.R179_splice|SNX1_uc002amy.2_Splice_Site_p.R173_splice|SNX1_uc010bgw.2_Splice_Site_p.R146_splice	NM_003099	NP_003090	Q13596	SNX1_HUMAN	sorting nexin 1 isoform a						cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity				0						TTTAGAAAGGTAAGTGCCATG	0.393												
LCTL	197021	broad.mit.edu	37	15	66845477	66845477	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:66845477A>G	uc002aqc.2	-	9	1174	c.1042T>C	c.(1042-1044)TAC>CAC	p.Y348H	LCTL_uc002aqd.3_Missense_Mutation_p.Y175H|LCTL_uc010bhw.2_Missense_Mutation_p.Y46H	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	lactase-like precursor	348	Extracellular (Potential).				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(2)	2						TCCGTGATGTACCGAGTAGTA	0.527												
UACA	55075	broad.mit.edu	37	15	70961645	70961645	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:70961645G>A	uc002asr.2	-	16	1482	c.1378C>T	c.(1378-1380)CGA>TGA	p.R460*	UACA_uc010uke.1_Nonsense_Mutation_p.R351*|UACA_uc002asq.2_Nonsense_Mutation_p.R447*|UACA_uc010bin.1_Nonsense_Mutation_p.R435*	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and	460	Potential.					cytoskeleton|extracellular region				ovary(2)|pancreas(1)|skin(1)	4						AGCTTCAGTCGGTCTTGTTTT	0.388												
NEO1	4756	broad.mit.edu	37	15	73418762	73418762	+	Silent	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:73418762T>C	uc002avm.3	+	4	871	c.729T>C	c.(727-729)CCT>CCC	p.P243P	NEO1_uc010ukx.1_Silent_p.P243P|NEO1_uc010uky.1_Silent_p.P243P|NEO1_uc010ukz.1_5'UTR	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	243	Extracellular (Potential).|Ig-like C2-type 3.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1						TTTTAGATCCTGAGGTGATAT	0.269												
TMC3	342125	broad.mit.edu	37	15	81631013	81631013	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:81631013G>A	uc002bgo.1	-	18	2064	c.2064C>T	c.(2062-2064)CCC>CCT	p.P688P	TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Silent_p.P688P	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	688	Helical; (Potential).					integral to membrane				ovary(1)|liver(1)	2						GGAGTACTGCGGGCAGGATGA	0.463												
MEX3B	84206	broad.mit.edu	37	15	82336392	82336392	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:82336392C>T	uc002bgq.1	-	2	1134	c.819G>A	c.(817-819)ACG>ACA	p.T273T		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	273					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2						CGGGGGTGGGCGTGATGCTGG	0.652												
WDR73	84942	broad.mit.edu	37	15	85191826	85191826	+	Missense_Mutation	SNP	G	G	A	rs150818024	by1000genomes	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:85191826G>A	uc002bkw.2	-	4	245	c.229C>T	c.(229-231)CGC>TGC	p.R77C	WDR73_uc002bkv.2_RNA|WDR73_uc002bkx.2_RNA|WDR73_uc010upa.1_Missense_Mutation_p.R77C	NM_032856	NP_116245	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	77											0						CCTCCATGGCGCACTTTGAAA	0.433												
AGBL1	123624	broad.mit.edu	37	15	86838491	86838491	+	Silent	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:86838491T>C	uc002blz.1	+	16	2168	c.2088T>C	c.(2086-2088)CAT>CAC	p.H696H	AGBL1_uc002bma.1_Silent_p.H427H|AGBL1_uc002bmb.1_Silent_p.H390H	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	696					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						TCCAGACTCATCTTGACATCC	0.408												
DET1	55070	broad.mit.edu	37	15	89074530	89074530	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:89074530T>C	uc002bmr.2	-	2	559	c.407A>G	c.(406-408)AAT>AGT	p.N136S	DET1_uc002bmp.3_RNA|DET1_uc010bnk.2_RNA|DET1_uc002bmq.2_Missense_Mutation_p.N147S	NM_001144074	NP_001137546	Q7L5Y6	DET1_HUMAN	de-etiolated 1 isoform 2	136						nucleus				lung(1)|pancreas(1)	2	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GTGCTCACCATTGGCCGCAAC	0.552												
ANPEP	290	broad.mit.edu	37	15	90346503	90346503	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:90346503G>A	uc002bop.3	-	10	1828	c.1536C>T	c.(1534-1536)ACC>ACT	p.T512T		NM_001150	NP_001141	P15144	AMPN_HUMAN	membrane alanine aminopeptidase precursor	512	Extracellular.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			ovary(3)|skin(1)	4	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TCAGGTAGATGGTGTTCTGGT	0.617												
BLM	641	broad.mit.edu	37	15	91346819	91346819	+	Missense_Mutation	SNP	G	G	A	rs140387675		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:91346819G>A	uc002bpr.2	+	18	3524	c.3427G>A	c.(3427-3429)GAA>AAA	p.E1143K	BLM_uc010uqh.1_Missense_Mutation_p.E1143K|BLM_uc010uqi.1_Missense_Mutation_p.E768K|BLM_uc010bnx.2_Intron|BLM_uc002bpt.2_Missense_Mutation_p.E118K	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	1143					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			ACACAATGCCGAAAGACTTTT	0.373			Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome			
IGF1R	3480	broad.mit.edu	37	15	99434589	99434589	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:99434589G>A	uc002bul.2	+	3	726	c.676G>A	c.(676-678)GAG>AAG	p.E226K	IGF1R_uc010urq.1_Missense_Mutation_p.E226K|IGF1R_uc010bon.2_Missense_Mutation_p.E226K	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	226					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)	GGCGTGCACCGAGAACAATGA	0.647												
SYNM	23336	broad.mit.edu	37	15	99670476	99670476	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:99670476C>T	uc002bup.2	+	6	2031	c.1911C>T	c.(1909-1911)ACC>ACT	p.T637T	SYNM_uc002buo.2_Silent_p.T637T|SYNM_uc002buq.2_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	desmuslin isoform A	637	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			ovary(3)|central_nervous_system(1)	4						TGACAGAAACCGTAGCAGAAA	0.502												
RAB40C	57799	broad.mit.edu	37	16	675439	675439	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:675439T>G	uc002chr.2	+	4	388	c.272T>G	c.(271-273)CTC>CGC	p.L91R	RAB40C_uc002chq.2_Missense_Mutation_p.L91R	NM_021168	NP_066991	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	91					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0		Hepatocellular(780;0.0218)				CAGGGGATCCTCTTGGTGTAT	0.642												
BAIAP3	8938	broad.mit.edu	37	16	1396487	1396487	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:1396487G>A	uc002clk.1	+	26	2643	c.2643G>A	c.(2641-2643)TCG>TCA	p.S881S	BAIAP3_uc002clj.2_Silent_p.S863S|BAIAP3_uc010uuz.1_Silent_p.S846S|BAIAP3_uc010uva.1_Silent_p.S818S|BAIAP3_uc010uvc.1_Silent_p.S810S	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	881					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				TCAGTCTCTCGCCTGACTCCA	0.647												
HAGH	3029	broad.mit.edu	37	16	1867196	1867196	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:1867196C>A	uc002cna.2	-	6	1025	c.618G>T	c.(616-618)GAG>GAT	p.E206D	HAGH_uc002cmz.2_Missense_Mutation_p.E158D|HAGH_uc010uvp.1_Missense_Mutation_p.R170M|HAGH_uc002cnb.1_Missense_Mutation_p.E158D	NM_005326	NP_005317	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase isoform 1	206					glutathione biosynthetic process	cytoplasm|mitochondrial matrix|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			ovary(1)	1		Hepatocellular(780;0.00335)			Glutathione(DB00143)	GGCCCAAGACCTCCAGCAGAG	0.647												
CCNF	899	broad.mit.edu	37	16	2487153	2487153	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:2487153G>A	uc002cqd.1	+	5	458	c.370G>A	c.(370-372)GCA>ACA	p.A124T	CCNF_uc002cqe.1_5'UTR	NM_001761	NP_001752	P41002	CCNF_HUMAN	cyclin F	124					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			central_nervous_system(1)|kidney(1)	2		Ovarian(90;0.17)				TGAGGCCCGCGCAGAAGTGAA	0.592												
AMDHD2	51005	broad.mit.edu	37	16	2577820	2577820	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:2577820G>A	uc002cqq.2	+	5	559	c.462G>A	c.(460-462)GCG>GCA	p.A154A	AMDHD2_uc002cqp.2_Silent_p.A154A|AMDHD2_uc010uwc.1_Silent_p.A154A|AMDHD2_uc010uwd.1_5'UTR	NM_015944	NP_057028	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2 isoform 1	154				A -> T (in Ref. 1; AAD27723).	N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			skin(2)|large_intestine(1)|breast(1)	4						AGCGGGGCGCGCACCCCGAGG	0.697												
SRRM2	23524	broad.mit.edu	37	16	2818182	2818182	+	Silent	SNP	G	G	C	rs149616150	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:2818182G>C	uc002crk.2	+	11	8202	c.7653G>C	c.(7651-7653)TCG>TCC	p.S2551S	SRRM2_uc002crj.1_Silent_p.S2455S|SRRM2_uc002crl.1_Silent_p.S2551S|SRRM2_uc010bsu.1_Silent_p.S2455S	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	2551	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						cgtcgtcgtcgtcctcctcct	0.368												
ZSCAN10	84891	broad.mit.edu	37	16	3140201	3140201	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:3140201G>A	uc002ctv.1	-	5	1157	c.1069C>T	c.(1069-1071)CGC>TGC	p.R357C	ZSCAN10_uc002cty.1_Missense_Mutation_p.R18C|ZSCAN10_uc002ctw.1_Missense_Mutation_p.R275C|ZSCAN10_uc002ctx.1_Missense_Mutation_p.R285C	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	357	C2H2-type 3.				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						TGGCGGAAGCGGTGGCCGCAC	0.692												
ZNF597	146434	broad.mit.edu	37	16	3487250	3487250	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:3487250T>A	uc002cvd.2	-	4	633	c.449A>T	c.(448-450)GAA>GTA	p.E150V		NM_152457	NP_689670	Q96LX8	ZN597_HUMAN	zinc finger protein 597	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTTGGCTCCTTCCCAGGGAGA	0.378												
CLUAP1	23059	broad.mit.edu	37	16	3558347	3558347	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:3558347C>T	uc002cvk.1	+	4	383	c.278C>T	c.(277-279)GCG>GTG	p.A93V	CLUAP1_uc002cvj.1_Missense_Mutation_p.A93V|CLUAP1_uc002cvl.1_Missense_Mutation_p.A93V|CLUAP1_uc002cvm.1_5'Flank	NM_015041	NP_055856	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1 isoform 1	93						nucleus	protein binding			ovary(1)|breast(1)|pancreas(1)	3						GATGGGTATGCGGTAAAAGAG	0.403												
TFAP4	7023	broad.mit.edu	37	16	4308193	4308193	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:4308193G>A	uc010uxg.1	-	7	1134	c.880C>T	c.(880-882)CGA>TGA	p.R294*		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer	294					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						ATGACAGCTCGCCGCTGCTCC	0.652												
A2BP1	54715	broad.mit.edu	37	16	7703854	7703854	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:7703854C>T	uc002cys.2	+	12	1783	c.795C>T	c.(793-795)GCC>GCT	p.A265A	A2BP1_uc010buf.1_Silent_p.A265A|A2BP1_uc002cyr.1_Silent_p.A264A|A2BP1_uc002cyt.2_Silent_p.A238A|A2BP1_uc010uxz.1_Silent_p.A308A|A2BP1_uc010uya.1_Silent_p.A222A|A2BP1_uc002cyv.1_Silent_p.A265A|A2BP1_uc010uyb.1_Silent_p.A265A|A2BP1_uc002cyw.2_Silent_p.A285A|A2BP1_uc002cyy.2_Silent_p.A285A|A2BP1_uc002cyx.2_Silent_p.A285A|A2BP1_uc010uyc.1_Silent_p.A258A	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	265					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				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)		CCGCCGCGGCCGCCTACCGAG	0.592												
TMEM186	25880	broad.mit.edu	37	16	8889880	8889880	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:8889880G>A	uc002cze.2	-	2	605	c.571C>T	c.(571-573)CTG>TTG	p.L191L	PMM2_uc002czf.3_5'Flank|PMM2_uc010uyf.1_5'Flank|PMM2_uc010uyg.1_5'Flank|PMM2_uc010uyh.1_5'Flank|PMM2_uc010buj.2_5'Flank|PMM2_uc010uyi.1_5'Flank|PMM2_uc010uye.1_5'Flank	NM_015421	NP_056236	Q96B77	TM186_HUMAN	transmembrane protein 186	191						integral to membrane|mitochondrion				ovary(1)	1						CCATAGCGCAGGGTGACGTAG	0.542												
TNFRSF17	608	broad.mit.edu	37	16	12061469	12061469	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:12061469G>A	uc002dbv.2	+	3	538	c.320G>A	c.(319-321)AGC>AAC	p.S107N	TNFRSF17_uc010buy.2_3'UTR|TNFRSF17_uc010buz.2_Missense_Mutation_p.S58N	NM_001192	NP_001183	Q02223	TNR17_HUMAN	tumor necrosis factor receptor superfamily,	107	Cytoplasmic (Potential).				cell proliferation|multicellular organismal development	endomembrane system|integral to membrane|plasma membrane					0						CTGGAAAAGAGCAGGACTGGT	0.463			T	IL2	intestinal T-cell lymphoma							
SMG1	23049	broad.mit.edu	37	16	18844470	18844470	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:18844470G>A	uc002dfm.2	-	51	8947	c.8584C>T	c.(8584-8586)CGG>TGG	p.R2862W	SMG1_uc010bwb.2_Missense_Mutation_p.R2722W|SMG1_uc010bwa.2_Missense_Mutation_p.R1593W	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	2862					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						ATGATTTGCCGGAAATTCGAA	0.343												
SYT17	51760	broad.mit.edu	37	16	19195148	19195148	+	Silent	SNP	C	C	T	rs143824200		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:19195148C>T	uc002dfw.2	+	5	961	c.630C>T	c.(628-630)GAC>GAT	p.D210D	SYT17_uc002dfx.2_Silent_p.D149D|SYT17_uc002dfy.2_Silent_p.D206D|SYT17_uc002dfv.1_Silent_p.D149D	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	B/K protein	210	C2 1.					membrane|synaptic vesicle	transporter activity			ovary(1)	1						AGGCCAGGGACCTGCCACCTC	0.602												
TMC5	79838	broad.mit.edu	37	16	19501878	19501878	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:19501878C>A	uc002dgc.3	+	18	3484	c.2735C>A	c.(2734-2736)ACC>AAC	p.T912N	TMC5_uc010vaq.1_Missense_Mutation_p.T860N|TMC5_uc002dgb.3_Intron|TMC5_uc010var.1_Missense_Mutation_p.T912N|TMC5_uc002dgd.1_Missense_Mutation_p.T666N|TMC5_uc002dge.3_Missense_Mutation_p.T666N|TMC5_uc002dgf.3_Missense_Mutation_p.T595N|TMC5_uc002dgg.3_Missense_Mutation_p.T553N	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	912	Helical; (Potential).					integral to membrane				skin(1)	1						TTCATCCTCACCCTCATTGTG	0.512												
DNAH3	55567	broad.mit.edu	37	16	20975756	20975756	+	Silent	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:20975756T>C	uc010vbe.1	-	53	9450	c.9450A>G	c.(9448-9450)CAA>CAG	p.Q3150Q	DNAH3_uc010vbd.1_Silent_p.Q585Q	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3150	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		ACTCAACTCCTTGCTGTTTGA	0.443												
HS3ST2	9956	broad.mit.edu	37	16	22826074	22826074	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:22826074G>A	uc002dli.2	+	1	215	c.143G>A	c.(142-144)CGC>CAC	p.R48H	HS3ST2_uc002dlj.2_RNA	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	heparan sulfate D-glucosaminyl	48	Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(48;0.0299)		GGTCGGAGCCGCCTCCTCGGC	0.706												
CHP2	63928	broad.mit.edu	37	16	23767738	23767738	+	Missense_Mutation	SNP	G	G	A	rs79455352	by1000genomes	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:23767738G>A	uc002dmb.1	+	5	805	c.382G>A	c.(382-384)GAT>AAT	p.D128N		NM_022097	NP_071380	O43745	CHP2_HUMAN	hepatocellular carcinoma antigen gene 520	128	EF-hand 3.|1 (Potential).						calcium ion binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(48;0.0144)		CCTGGATCGCGATGGGAAGAT	0.537												
GTF3C1	2975	broad.mit.edu	37	16	27514179	27514179	+	Splice_Site	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:27514179C>T	uc002dov.1	-	11	1947	c.1907_splice	c.e11+1	p.T636_splice	GTF3C1_uc002dou.2_Splice_Site_p.T636_splice	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide							transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						cagCTCCTTACGTGAATAAAC	0.418												
XPO6	23214	broad.mit.edu	37	16	28167579	28167579	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:28167579G>A	uc002dpa.1	-	7	1414	c.913C>T	c.(913-915)CGC>TGC	p.R305C	XPO6_uc002dpb.1_Missense_Mutation_p.R291C|XPO6_uc010vcp.1_Missense_Mutation_p.R305C	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	exportin 6	305					protein export from nucleus		protein binding|protein transporter activity			ovary(1)|skin(1)	2						AGCCGGCCGCGCTCCTGACCC	0.537												
ITGAD	3681	broad.mit.edu	37	16	31434704	31434704	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:31434704T>C	uc002ebv.1	+	25	2940	c.2891T>C	c.(2890-2892)ATC>ACC	p.I964T	ITGAD_uc010cap.1_Missense_Mutation_p.I965T	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	964	Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1						GATCTGGCCATCAGCATTAAC	0.547												
ABCC12	94160	broad.mit.edu	37	16	48174686	48174686	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:48174686G>A	uc002efc.1	-	4	915	c.569C>T	c.(568-570)ACG>ATG	p.T190M	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.T190M|ABCC12_uc010vgj.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	190	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3		all_cancers(37;0.0474)|all_lung(18;0.047)				CCGGATGGCCGTGCGGTAGTT	0.532												
NKD1	85407	broad.mit.edu	37	16	50667286	50667286	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:50667286G>A	uc002egg.1	+	10	1231	c.1007G>A	c.(1006-1008)CGG>CAG	p.R336Q		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	naked cuticle homolog 1	336					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding				0		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CAACGGCTCCGGGGCACCCAG	0.642												
CHD9	80205	broad.mit.edu	37	16	53358011	53358011	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:53358011G>A	uc002ehb.2	+	38	8062	c.7898G>A	c.(7897-7899)CGG>CAG	p.R2633Q	CHD9_uc002egy.2_Missense_Mutation_p.R2617Q|CHD9_uc002ehc.2_Missense_Mutation_p.R2618Q|CHD9_uc002ehf.2_Missense_Mutation_p.R1731Q|CHD9_uc010cbw.2_Missense_Mutation_p.R699Q	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2633					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)				CGGGGGAGACGGCCTAAAAGT	0.483												
NUDT21	11051	broad.mit.edu	37	16	56485017	56485017	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:56485017A>C	uc002eja.2	-	1	245	c.98T>G	c.(97-99)CTG>CGG	p.L33R	OGFOD1_uc002ejb.2_5'Flank|OGFOD1_uc002ejc.2_5'Flank	NM_007006	NP_008937	O43809	CPSF5_HUMAN	cleavage and polyadenylation specific factor 5	33	Necessary for RNA-binding.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity				0						GGTGCGCTCCAGGGTGAGGGG	0.637												
BBS2	583	broad.mit.edu	37	16	56536265	56536265	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:56536265C>T	uc002ejd.2	-	9	1278	c.1044G>A	c.(1042-1044)CTG>CTA	p.L348L	BBS2_uc010ccg.2_3'UTR	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2 protein	348					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			ovary(1)	1						GTTCCAGCAACAGATTCTGCT	0.537									Bardet-Biedl_syndrome			
CX3CL1	6376	broad.mit.edu	37	16	57416231	57416231	+	Missense_Mutation	SNP	G	G	A	rs138964688	by1000genomes	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:57416231G>A	uc002eli.2	+	3	548	c.481G>A	c.(481-483)GTG>ATG	p.V161M		NM_002996	NP_002987	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1 precursor	161	Mucin-like stalk.|Extracellular (Potential).				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity				0						GCCGACGGGCGTGACTGGTTC	0.672												
CCDC135	84229	broad.mit.edu	37	16	57760170	57760170	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:57760170C>T	uc002emi.2	+	13	2038	c.1949C>T	c.(1948-1950)ACG>ATG	p.T650M	CCDC135_uc002emj.2_Missense_Mutation_p.T650M|CCDC135_uc002emk.2_Missense_Mutation_p.T585M	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	650						cytoplasm				central_nervous_system(1)	1						ATCATCATGACGCCCGACATG	0.642												
CCDC113	29070	broad.mit.edu	37	16	58296349	58296349	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:58296349G>A	uc002ene.2	+	6	767	c.688G>A	c.(688-690)GCT>ACT	p.A230T	CCDC113_uc010vid.1_Missense_Mutation_p.A176T	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113 isoform 1	230	Potential.					protein complex					0						GATAGAGAACGCTCAATTTCT	0.423												
CDH11	1009	broad.mit.edu	37	16	65005898	65005898	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:65005898T>A	uc002eoi.2	-	10	1894	c.1460A>T	c.(1459-1461)AAG>ATG	p.K487M	CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.K487M|CDH11_uc010vin.1_Missense_Mutation_p.K361M	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	487	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GGCAGCAAACTTGGGAGCATT	0.473			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)		
CDH16	1014	broad.mit.edu	37	16	66948222	66948222	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:66948222G>A	uc002eql.2	-	7	750	c.677C>T	c.(676-678)ACT>ATT	p.T226I	CDH16_uc010cdy.2_Missense_Mutation_p.T226I|CDH16_uc002eqm.2_Missense_Mutation_p.T129I	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	226	Extracellular (Potential).|Cadherin 2.				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)		CACGGTGGCAGTGGCCTGGTG	0.592												
B3GNT9	84752	broad.mit.edu	37	16	67184159	67184159	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:67184159G>A	uc002erf.2	-	2	551	c.230C>T	c.(229-231)ACG>ATG	p.T77M	uc002erg.1_3'UTR	NM_033309	NP_171608	Q6UX72	B3GN9_HUMAN	UDP-GlcNAc:betaGal	77	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity				0						TCCCGTAGGCGTGGGCGGCGC	0.716												
ACD	65057	broad.mit.edu	37	16	67692931	67692931	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:67692931T>C	uc002etq.3	-	7	1140	c.803A>G	c.(802-804)CAG>CGG	p.Q268R	ACD_uc002etp.3_Missense_Mutation_p.Q265R|ACD_uc002etr.3_Missense_Mutation_p.Q265R|ACD_uc010vjt.1_3'UTR|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank|PARD6A_uc002etu.2_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog isoform 1	268	Interaction with POT1.				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			pancreas(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GAGTGCCCCCTGATGCTCCTG	0.622												
DUS2L	54920	broad.mit.edu	37	16	68104974	68104974	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:68104974G>A	uc002evi.2	+	12	922	c.773G>A	c.(772-774)CGG>CAG	p.R258Q	DUS2L_uc002evj.2_Missense_Mutation_p.R258Q|DUS2L_uc010vkk.1_Missense_Mutation_p.R223Q|DUS2L_uc010cez.2_Missense_Mutation_p.R171Q	NM_017803	NP_060273	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2-like, SMM1 homolog	258					tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		GAGGGTCTGCGGCCCCTGGAG	0.527												
NOB1	28987	broad.mit.edu	37	16	69782198	69782198	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:69782198G>A	uc002exs.2	-	7	777	c.761C>T	c.(760-762)GCG>GTG	p.A254V		NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN	nin one binding protein	254						nucleus	metal ion binding|protein binding				0						GCCGTTCACCGCCAGCACGTG	0.488												
COG4	25839	broad.mit.edu	37	16	70514920	70514920	+	Missense_Mutation	SNP	C	C	T	rs142971847		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:70514920C>T	uc002ezc.2	-	19	2374	c.2363G>A	c.(2362-2364)CGC>CAC	p.R788H	COG4_uc002eza.2_Missense_Mutation_p.R125H|COG4_uc002ezb.2_Missense_Mutation_p.R244H|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.R767H|COG4_uc002eze.2_Missense_Mutation_p.R482H	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	784	E domain; essential for proper cell surface glycosylation.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0		Ovarian(137;0.0694)				CAGCTACAGGCGCAGCCTCTT	0.627												
IL34	146433	broad.mit.edu	37	16	70693588	70693588	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:70693588A>T	uc002ezh.1	+	5	853	c.470A>T	c.(469-471)AAG>ATG	p.K157M	IL34_uc002ezi.1_Missense_Mutation_p.K156M	NM_152456	NP_689669	Q6ZMJ4	IL34_HUMAN	interleukin 34 precursor	157					positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding			central_nervous_system(1)|skin(1)	2						CCAAACCTGAAGCTGGTGCGG	0.617												
PHLPP2	23035	broad.mit.edu	37	16	71715761	71715761	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:71715761G>A	uc002fax.2	-	5	789	c.783C>T	c.(781-783)CTC>CTT	p.L261L	PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Silent_p.L261L|PHLPP2_uc002fay.1_Silent_p.L261L	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	261	LRR 1.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						GAACCTCCTCGAGGCTGTAAC	0.478												
WDR59	79726	broad.mit.edu	37	16	74976648	74976648	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:74976648T>C	uc002fdh.1	-	7	624	c.522A>G	c.(520-522)ATA>ATG	p.I174M	WDR59_uc002fdi.2_Missense_Mutation_p.I174M|WDR59_uc002fdj.2_Missense_Mutation_p.I174M	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	174	WD 3.									ovary(1)|breast(1)	2						TCTTATCCCATATCCGCACAT	0.473												
TERF2IP	54386	broad.mit.edu	37	16	75681991	75681991	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:75681991C>T	uc002fet.1	+	1	308	c.211C>T	c.(211-213)CTG>TTG	p.L71L	KARS_uc002fer.2_5'Flank|KARS_uc002feq.2_5'Flank|KARS_uc002fes.2_5'Flank|KARS_uc010cha.1_Intron	NM_018975	NP_061848	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting	71					negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1						CGGGGAGGCGCTGGCCGAGGC	0.716												
CDYL2	124359	broad.mit.edu	37	16	80718806	80718806	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:80718806C>T	uc002ffs.2	-	2	350	c.245G>A	c.(244-246)CGA>CAA	p.R82Q		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	82						nucleus	catalytic activity|protein binding			central_nervous_system(1)	1						CGACGGGCCTCGACTGTCACG	0.527												
PKD1L2	114780	broad.mit.edu	37	16	81211460	81211460	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:81211460C>T	uc002fgh.1	-	14	2389	c.2389G>A	c.(2389-2391)GCC>ACC	p.A797T	PKD1L2_uc002fgg.1_RNA|PKD1L2_uc002fgi.2_Missense_Mutation_p.A112T|PKD1L2_uc002fgj.2_Missense_Mutation_p.A797T|PKD1L2_uc002fgk.1_5'UTR|PKD1L2_uc002fgl.1_Intron	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	797	REJ.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GCTGTGGAGGCGTTGCAGAAG	0.592												
KCNG4	93107	broad.mit.edu	37	16	84256030	84256030	+	Silent	SNP	C	C	T	rs113215329	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:84256030C>T	uc010voc.1	-	3	1474	c.1353G>A	c.(1351-1353)ACG>ACA	p.T451T		NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G,	451	Helical; Name=Segment S6; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)	3						GGAAGATAGACGTGGCCGGGA	0.642												
FOXC2	2303	broad.mit.edu	37	16	86601603	86601603	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:86601603C>T	uc002fjq.2	+	1	747	c.662C>T	c.(661-663)GCG>GTG	p.A221V		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	forkhead box C2	221					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding				0						GCGTCCCCGGCGCTGCCGGTC	0.766									Late-onset_Hereditary_Lymphedema			
ZCCHC14	23174	broad.mit.edu	37	16	87445714	87445714	+	Silent	SNP	C	C	T	rs142665318		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:87445714C>T	uc002fjz.1	-	12	2229	c.2202G>A	c.(2200-2202)GCG>GCA	p.A734A	ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Silent_p.A510A	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	734	Ser-rich.				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CGGAGGACAGCGCCGGGCTGG	0.572												
C16orf7	9605	broad.mit.edu	37	16	89783024	89783024	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:89783024G>A	uc002fom.1	-	4	402	c.277C>T	c.(277-279)CGC>TGC	p.R93C	C16orf7_uc002fol.1_Missense_Mutation_p.R23C|uc002fon.1_RNA|uc002foo.1_Translation_Start_Site	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	chromosome 16 open reading frame 7	93					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GGCTTCAGGCGTGTTTTCCCT	0.617												
ZNF276	92822	broad.mit.edu	37	16	89789790	89789790	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:89789790G>A	uc002fos.3	+	4	776	c.679G>A	c.(679-681)GTC>ATC	p.V227I	C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.2_Silent_p.A23A|ZNF276_uc002fop.2_Silent_p.A145A|ZNF276_uc002foq.3_Missense_Mutation_p.V152I|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_Silent_p.A23A|ZNF276_uc010cis.2_5'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_Missense_Mutation_p.V65I|ZNF276_uc010cit.1_5'UTR	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	zinc finger protein 276 isoform a	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GTACTGCGGCGTCATCCAGGT	0.652												
TUBB3	10381	broad.mit.edu	37	16	90001343	90001343	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:90001343C>T	uc002fph.1	+	4	549	c.484C>T	c.(484-486)CGC>TGC	p.R162C	TUBB3_uc002fpf.2_Missense_Mutation_p.R509C|TUBB3_uc010ciz.1_Missense_Mutation_p.R90C|TUBB3_uc002fpg.1_Missense_Mutation_p.R16C|TUBB3_uc002fpi.1_Missense_Mutation_p.R90C|TUBB3_uc002fpj.1_Missense_Mutation_p.R90C|TUBB3_uc010cjb.1_Missense_Mutation_p.R16C|TUBB3_uc002fpk.1_Missense_Mutation_p.R16C	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	162					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GTATCCCGACCGCATCATGAA	0.642												
C16orf3	750	broad.mit.edu	37	16	90095641	90095641	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:90095641C>T	uc002fqk.1	-	1	669	c.110G>A	c.(109-111)TGC>TAC	p.C37Y	GAS8_uc010vps.1_Intron|GAS8_uc002fqh.2_Intron|GAS8_uc010vpt.1_Intron|GAS8_uc010vpu.1_Intron|GAS8_uc010vpv.1_Intron|GAS8_uc010cjc.1_Intron|GAS8_uc002fqi.1_Intron|GAS8_uc010vpw.1_Intron|GAS8_uc002fqj.1_Intron	NM_001214	NP_001205	O95177	CP003_HUMAN	hypothetical protein LOC750	37											0		all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		CCTTGCACTGCACATCGCACG	0.204												
GEMIN4	50628	broad.mit.edu	37	17	649966	649966	+	Silent	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:649966G>T	uc002frs.1	-	2	1436	c.1317C>A	c.(1315-1317)GCC>GCA	p.A439A	GEMIN4_uc010vqa.1_3'UTR	NM_015721	NP_056536	P57678	GEMI4_HUMAN	gemin 4	439					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			ovary(2)|kidney(1)|skin(1)	4		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TCCCCAGGCAGGCTACCCACT	0.562												
TUSC5	286753	broad.mit.edu	37	17	1183346	1183346	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:1183346C>T	uc002fsi.1	+	1	390	c.51C>T	c.(49-51)TCC>TCT	p.S17S		NM_172367	NP_758955	Q8IXB3	TUSC5_HUMAN	LOST1	17					response to biotic stimulus	integral to membrane				skin(2)	2				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGCCAGGCTCCGCCGCATTCC	0.642												
YWHAE	7531	broad.mit.edu	37	17	1248762	1248762	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:1248762G>A	uc002fsj.2	-	6	899	c.747C>T	c.(745-747)GAC>GAT	p.D249D	YWHAE_uc002fsk.2_Silent_p.D227D|YWHAE_uc010vqh.1_RNA|YWHAE_uc010vqi.1_RNA	NM_006761	NP_006752	P62258	1433E_HUMAN	tyrosine 3/tryptophan 5 -monooxygenase	249					apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			lung(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		CGTCTTCCACGTCCTGCAGCG	0.443												
KIAA0753	9851	broad.mit.edu	37	17	6510238	6510238	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:6510238A>C	uc002gde.3	-	12	2323	c.1964T>G	c.(1963-1965)CTG>CGG	p.L655R	KIAA0753_uc010vtd.1_Missense_Mutation_p.L111R|KIAA0753_uc010clo.2_Missense_Mutation_p.L356R|KIAA0753_uc010vte.1_Missense_Mutation_p.L356R	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	hypothetical protein LOC9851	655						centrosome					0				COAD - Colon adenocarcinoma(228;0.157)		GAGCTCATTCAGTTCCTTTGT	0.423												
SLC16A13	201232	broad.mit.edu	37	17	6940102	6940102	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:6940102G>A	uc002geh.2	+	2	564	c.256G>A	c.(256-258)GGA>AGA	p.G86R		NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN	monocarboxylate transporter 13	86	Helical; (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(1)|skin(1)	2						GGTGATGACTGGAGGCATCTT	0.607												
DLG4	1742	broad.mit.edu	37	17	7095236	7095236	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:7095236C>T	uc002get.3	-	20	3282	c.2081G>A	c.(2080-2082)CGC>CAC	p.R694H	DLG4_uc010vtm.1_Intron|DLG4_uc010vtn.1_Missense_Mutation_p.R591H|DLG4_uc010cly.2_Missense_Mutation_p.R648H|DLG4_uc010vto.1_Missense_Mutation_p.R691H	NM_001365	NP_001356	P78352	DLG4_HUMAN	post-synaptic density protein 95 isoform 1	651	Guanylate kinase-like.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			ovary(1)|breast(1)	2						GGAGCGGGGGCGGATGAAGAT	0.677												
DVL2	1856	broad.mit.edu	37	17	7131322	7131322	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:7131322G>T	uc002gez.1	-	10	1358	c.1076C>A	c.(1075-1077)CCT>CAT	p.P359H	DVL2_uc010vtr.1_Missense_Mutation_p.P353H	NM_004422	NP_004413	O14641	DVL2_HUMAN	dishevelled 2	359					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						ATAGGCCTGAGGAGAGGGATC	0.652												
DVL2	1856	broad.mit.edu	37	17	7132917	7132917	+	Missense_Mutation	SNP	C	C	T	rs142190934		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:7132917C>T	uc002gez.1	-	6	1019	c.737G>A	c.(736-738)CGC>CAC	p.R246H	DVL2_uc010vtr.1_Missense_Mutation_p.R240H|DVL2_uc010vts.1_Missense_Mutation_p.R148H|DVL2_uc010clz.1_3'UTR	NM_004422	NP_004413	O14641	DVL2_HUMAN	dishevelled 2	246					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						CCTCTCCAGGCGGGGTGGCCT	0.667												
KDM6B	23135	broad.mit.edu	37	17	7749498	7749498	+	Silent	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:7749498T>C	uc002giw.1	+	6	715	c.339T>C	c.(337-339)CTT>CTC	p.L113L	KDM6B_uc002gix.2_5'Flank	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	113					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|pancreas(1)	2						GGGAACAGCTTGGGCAACTGT	0.632												
ALOX12B	242	broad.mit.edu	37	17	7976509	7976509	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:7976509G>A	uc002gjy.1	-	14	2144	c.1883C>T	c.(1882-1884)ACG>ATG	p.T628M		NM_001139	NP_001130	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	628	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity				0						CACCAGCAGCGTGATGCACGT	0.622										Multiple Myeloma(8;0.094)		
ALOX12B	242	broad.mit.edu	37	17	7980427	7980427	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:7980427G>A	uc002gjy.1	-	9	1417	c.1156C>T	c.(1156-1158)CGC>TGC	p.R386C	uc010cnq.1_5'Flank	NM_001139	NP_001130	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	386	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity				0						TCCGCATAGCGTACCCACGTC	0.602										Multiple Myeloma(8;0.094)		
MYH10	4628	broad.mit.edu	37	17	8409646	8409646	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:8409646C>T	uc002gll.2	-	25	3379	c.3283G>A	c.(3283-3285)GCA>ACA	p.A1095T	MYH10_uc002glm.2_Missense_Mutation_p.A1126T|MYH10_uc010cnx.2_Missense_Mutation_p.A1104T	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1095	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						CTGGCCAGTGCGCCCTGCAGC	0.617												
MFSD6L	162387	broad.mit.edu	37	17	8701914	8701914	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:8701914G>A	uc002glp.1	-	1	673	c.525C>T	c.(523-525)TCC>TCT	p.S175S		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing	175						integral to membrane				central_nervous_system(1)	1						CTCCTTCAACGGAGGGCGCTA	0.532												
GLP2R	9340	broad.mit.edu	37	17	9760756	9760756	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:9760756C>T	uc002gmd.1	+	6	628	c.628C>T	c.(628-630)CGC>TGC	p.R210C		NM_004246	NP_004237	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor precursor	210	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				lung(2)|ovary(1)	3					Glucagon recombinant(DB00040)	CCACTGCACGCGCAACTACAT	0.493												
MYH13	8735	broad.mit.edu	37	17	10216027	10216027	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:10216027G>A	uc002gmk.1	-	31	4319	c.4229C>T	c.(4228-4230)ACG>ATG	p.T1410M		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1410	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						GGAGTTCGCCGTCTCCGTGTT	0.532												
MYH4	4622	broad.mit.edu	37	17	10360811	10360811	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:10360811A>G	uc002gmn.2	-	16	1934	c.1823T>C	c.(1822-1824)GTG>GCG	p.V608A	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	608	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(10)|skin(2)|central_nervous_system(1)	13						CAGCCCCACCACAGTCTCATT	0.517												
NCOR1	9611	broad.mit.edu	37	17	16075241	16075241	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:16075241A>G	uc002gpo.2	-	4	551	c.311T>C	c.(310-312)CTG>CCG	p.L104P	NCOR1_uc002gpn.2_Missense_Mutation_p.L104P|NCOR1_uc002gpp.1_Intron|NCOR1_uc002gpr.2_Intron|NCOR1_uc002gps.1_Missense_Mutation_p.L104P|NCOR1_uc010coz.1_5'UTR|NCOR1_uc010cpb.1_Missense_Mutation_p.L104P|NCOR1_uc010cpa.1_Missense_Mutation_p.L104P|NCOR1_uc002gpu.2_Missense_Mutation_p.L104P	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	104	Interaction with ZBTB33 and HEXIM1.				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)		CTTCGATTCCAGTGAATCATG	0.468												
LLGL1	3996	broad.mit.edu	37	17	18140801	18140801	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:18140801G>A	uc002gsp.2	+	14	1679	c.1618G>A	c.(1618-1620)GTA>ATA	p.V540I		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1	540	WD 9.				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)	6	all_neural(463;0.228)					TCAGGTGCTGGTACTGGAGCT	0.682												
SLC5A10	125206	broad.mit.edu	37	17	18880290	18880290	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:18880290G>A	uc002guu.1	+	9	1011	c.970G>A	c.(970-972)GCA>ACA	p.A324T	SLC5A10_uc002gur.1_Missense_Mutation_p.A241T|SLC5A10_uc002gut.1_Missense_Mutation_p.A324T|SLC5A10_uc002guv.1_Missense_Mutation_p.A297T|SLC5A10_uc010vyl.1_Missense_Mutation_p.A324T|FAM83G_uc002guw.2_Intron	NM_001042450	NP_001035915	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/glucose	324	Extracellular (Potential).				sodium ion transport|transmembrane transport	integral to membrane	transporter activity			ovary(1)	1						GATCAGCCGCGCATTGTTCCC	0.632												
ULK2	9706	broad.mit.edu	37	17	19685239	19685239	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:19685239C>T	uc002gwm.3	-	23	3111	c.2602G>A	c.(2602-2604)GTG>ATG	p.V868M	ULK2_uc002gwn.2_Missense_Mutation_p.V868M	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	868					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TGGTCCACCACCACACTCTCC	0.517												
LGALS9B	284194	broad.mit.edu	37	17	20354922	20354922	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:20354922C>T	uc002gxa.1	-	10	861	c.796G>A	c.(796-798)GCC>ACC	p.A266T	LGALS9B_uc002gwz.1_Missense_Mutation_p.A265T|LGALS9B_uc010vzh.1_Missense_Mutation_p.A178T	NM_001042685	NP_001036150	Q3B8N2	LEG9B_HUMAN	galectin-9 like	266	Galectin 2.						sugar binding			skin(1)	1						ATGTGGAAGGCGATGTGGCTC	0.552												
LGALS9B	284194	broad.mit.edu	37	17	20356361	20356361	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:20356361G>A	uc002gxa.1	-	7	661	c.596C>T	c.(595-597)ACG>ATG	p.T199M	LGALS9B_uc002gwz.1_Missense_Mutation_p.T199M|LGALS9B_uc010vzh.1_Missense_Mutation_p.T111M	NM_001042685	NP_001036150	Q3B8N2	LEG9B_HUMAN	galectin-9 like	199							sugar binding			skin(1)	1						GCTCTGCACCGTGTGGATGAC	0.547												
KIAA0100	9703	broad.mit.edu	37	17	26960634	26960634	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:26960634C>T	uc002hbu.2	-	18	3497	c.3398G>A	c.(3397-3399)CGT>CAT	p.R1133H		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1133						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					GAACAGAAGACGGCTCTTGTC	0.562												
TP53I13	90313	broad.mit.edu	37	17	27899562	27899562	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:27899562C>T	uc002hee.2	+	6	954	c.916C>T	c.(916-918)CGC>TGC	p.R306C		NM_138349	NP_612358	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	306	Extracellular (Potential).					cytoplasm|integral to membrane|plasma membrane					0				READ - Rectum adenocarcinoma(3;0.236)		CCCCACCCCACGCACTGAAGA	0.701												
NLE1	54475	broad.mit.edu	37	17	33464048	33464048	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:33464048C>T	uc002hiy.1	-	7	828	c.800G>A	c.(799-801)CGC>CAC	p.R267H	NLE1_uc010ctn.1_5'UTR|NLE1_uc002hiz.1_5'UTR	NM_018096	NP_060566	Q9NVX2	NLE1_HUMAN	Notchless gene homolog isoform a	267	WD 4.					nucleolus				breast(3)|ovary(1)	4		Ovarian(249;0.17)				TTTGATGGTGCGGTCCTGGGA	0.592												
AP2B1	163	broad.mit.edu	37	17	33963434	33963434	+	Silent	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:33963434A>G	uc002hjr.2	+	10	1419	c.1230A>G	c.(1228-1230)GCA>GCG	p.A410A	AP2B1_uc002hjq.2_Silent_p.A410A|AP2B1_uc010wci.1_Silent_p.A372A|AP2B1_uc002hjs.2_Silent_p.A353A|AP2B1_uc002hjt.2_Silent_p.A410A|AP2B1_uc010ctv.2_Silent_p.A410A|AP2B1_uc010wcj.1_Silent_p.A147A	NM_001282	NP_001273	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1	410					axon guidance|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|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TCCAAGAAGCAATTGTTGTCA	0.398												
TAF15	8148	broad.mit.edu	37	17	34171771	34171771	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:34171771C>T	uc002hkd.2	+	15	1554	c.1468C>T	c.(1468-1470)CGA>TGA	p.R490*	TAF15_uc002hkc.2_Nonsense_Mutation_p.R487*	NM_139215	NP_631961	Q92804	RBP56_HUMAN	TBP-associated factor 15 isoform 1	490	Arg/Gly-rich.|11.|21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	bone(33)|lung(1)|skin(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		tggaggagaccgaggtggagg	0			T	TEC|CHN1|ZNF384	extraskeletal myxoid chondrosarcomas|ALL							
MRM1	79922	broad.mit.edu	37	17	34964141	34964141	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:34964141G>A	uc002hne.2	+	3	887	c.672G>A	c.(670-672)ACG>ACA	p.T224T	MRM1_uc002hnf.2_Silent_p.T29T	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog	224					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity				0		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TGGCCGGCACGGTGGGCTGCC	0.478												
CACNB1	782	broad.mit.edu	37	17	37343783	37343783	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:37343783C>T	uc002hrm.1	-	4	516	c.363G>A	c.(361-363)GTG>GTA	p.V121V	CACNB1_uc002hrl.1_5'UTR|CACNB1_uc002hrn.2_Silent_p.V121V|CACNB1_uc002hro.2_Silent_p.V121V|CACNB1_uc002hrp.1_Silent_p.V121V|CACNB1_uc010web.1_Silent_p.V74V	NM_000723	NP_000714	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1	121	SH3.				axon guidance	voltage-gated calcium channel complex				large_intestine(1)|ovary(1)	2					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	CCACTCCCTGCACAGGCACCT	0.488												
PNMT	5409	broad.mit.edu	37	17	37826239	37826239	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:37826239C>T	uc002hsi.1	+	3	668	c.446C>T	c.(445-447)GCC>GTC	p.A149V		NM_002686	NP_002677	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	149					catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity			ovary(1)	1	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CAGCTGCGAGCCAGGGTGAAA	0.662												
KRT20	54474	broad.mit.edu	37	17	39034577	39034577	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:39034577C>T	uc002hvl.2	-	6	1001	c.959G>A	c.(958-960)CGT>CAT	p.R320H		NM_019010	NP_061883	P35900	K1C20_HUMAN	keratin 20	320	Rod.|Coil 2.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			large_intestine(1)|kidney(1)|skin(1)	3		Breast(137;0.000301)|Ovarian(249;0.15)				GCTGCTGTAACGGGCCTTGGT	0.488												
CNTNAP1	8506	broad.mit.edu	37	17	40836173	40836173	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:40836173G>A	uc002iay.2	+	3	505	c.289G>A	c.(289-291)GTC>ATC	p.V97I	CCR10_uc002iax.3_5'Flank|CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	97	Extracellular (Potential).|F5/8 type C.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TTGGGACTGGGTCACACGTTA	0.577												
BRCA1	672	broad.mit.edu	37	17	41244466	41244466	+	Missense_Mutation	SNP	G	G	A	rs80357049		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:41244466G>A	uc002icq.2	-	10	3314	c.3082C>T	c.(3082-3084)CGT>TGT	p.R1028C	BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.R957C|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.R981C|BRCA1_uc002ict.2_Missense_Mutation_p.R1028C|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.R1028C|BRCA1_uc002ide.1_Missense_Mutation_p.R859C|BRCA1_uc010cyy.1_Missense_Mutation_p.R1028C|BRCA1_uc010whs.1_Missense_Mutation_p.R1028C|BRCA1_uc010cyz.2_Missense_Mutation_p.R981C|BRCA1_uc010cza.2_Missense_Mutation_p.R1002C|BRCA1_uc010wht.1_Missense_Mutation_p.R732C	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	1028					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATGTTATTACGGCTAATTGTG	0.348			D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)		
MPP2	4355	broad.mit.edu	37	17	41958160	41958160	+	Missense_Mutation	SNP	C	C	T	rs149942811		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:41958160C>T	uc010wip.1	-	10	1241	c.1184G>A	c.(1183-1185)CGG>CAG	p.R395Q	MPP2_uc002ien.1_Missense_Mutation_p.R367Q|MPP2_uc010wim.1_Missense_Mutation_p.R339Q|MPP2_uc002ieo.1_Missense_Mutation_p.R350Q|MPP2_uc010win.1_Missense_Mutation_p.R211Q|MPP2_uc010wio.1_Missense_Mutation_p.R339Q	NM_005374	NP_005365	Q14168	MPP2_HUMAN	palmitoylated membrane protein 2	374	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity				0		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CAGGGTTTTCCGGCGGAACGG	0.617											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SLC4A1	6521	broad.mit.edu	37	17	42330716	42330716	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:42330716C>T	uc002igf.3	-	17	2230	c.2081G>A	c.(2080-2082)CGC>CAC	p.R694H		NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	694	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GACCATCTTGCGCTCAGGTTT	0.622												
FZD2	2535	broad.mit.edu	37	17	42636530	42636530	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:42636530C>T	uc002igx.1	+	1	1606	c.1474C>T	c.(1474-1476)CGC>TGC	p.R492C		NM_001466	NP_001457	Q14332	FZD2_HUMAN	frizzled 2 precursor	492	Extracellular (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|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			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCACTGGGAGCGCTCGTGGGT	0.627												
C1QL1	10882	broad.mit.edu	37	17	43037677	43037677	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:43037677C>T	uc002ihv.2	-	2	884	c.656G>A	c.(655-657)AGC>AAC	p.S219N		NM_006688	NP_006679	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	219	C1q.				locomotory behavior	collagen					0		Prostate(33;0.155)				CAGGATCACGCTGTTGCTGGC	0.542												
PLCD3	113026	broad.mit.edu	37	17	43196290	43196290	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:43196290C>T	uc002iib.2	-	5	919	c.805G>A	c.(805-807)GTG>ATG	p.V269M		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	phospholipase C delta 3	269	EF-hand 3.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|lung(1)	3					Phosphatidylserine(DB00144)	GCACTCAGCACGCGGTCCTCG	0.657												
ARHGAP27	201176	broad.mit.edu	37	17	43474387	43474387	+	Missense_Mutation	SNP	C	C	T	rs147050844		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:43474387C>T	uc002iix.2	-	11	1272	c.823G>A	c.(823-825)GCA>ACA	p.A275T	ARHGAP27_uc010dak.2_Missense_Mutation_p.A248T	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27 isoform a	616					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding				0	Renal(3;0.0405)					GGCAGCTCTGCGGACTGGATT	0.642												
HOXB4	3214	broad.mit.edu	37	17	46654330	46654330	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:46654330C>T	uc002inp.2	-	2	572	c.510G>A	c.(508-510)ACG>ACA	p.T170T	HOXB3_uc010wlm.1_Intron|HOXB3_uc010dbf.2_Intron|HOXB3_uc010dbg.2_Intron|HOXB3_uc002ino.2_5'Flank|HOXB3_uc010wlk.1_5'Flank|HOXB3_uc010wll.1_Intron	NM_024015	NP_076920	P17483	HXB4_HUMAN	homeobox B4	170	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CCTGCTGGCGCGTGTAGGCGG	0.617												
SPOP	8405	broad.mit.edu	37	17	47696653	47696653	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:47696653G>A	uc010dbk.2	-	5	927	c.295C>T	c.(295-297)CGG>TGG	p.R99W	SPOP_uc002ipb.2_Missense_Mutation_p.R99W|SPOP_uc002ipc.2_Missense_Mutation_p.R99W|SPOP_uc002ipd.2_Missense_Mutation_p.R99W|SPOP_uc002ipe.2_Missense_Mutation_p.R99W|SPOP_uc002ipf.2_Missense_Mutation_p.R99W|SPOP_uc002ipg.2_Missense_Mutation_p.R99W	NM_003563	NP_003554	O43791	SPOP_HUMAN	speckle-type POZ protein	99	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding			prostate(2)|ovary(2)|lung(2)	6						AATTTTGCCCGAACTTCACTC	0.423										Prostate(2;0.17)		
SPOP	8405	broad.mit.edu	37	17	47700149	47700149	+	Silent	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:47700149T>C	uc010dbk.2	-	3	656	c.24A>G	c.(22-24)CCA>CCG	p.P8P	SPOP_uc002ipb.2_Silent_p.P8P|SPOP_uc002ipc.2_Silent_p.P8P|SPOP_uc002ipd.2_Silent_p.P8P|SPOP_uc002ipe.2_Silent_p.P8P|SPOP_uc002ipf.2_Silent_p.P8P|SPOP_uc002ipg.2_Silent_p.P8P|SPOP_uc010wlx.1_RNA	NM_003563	NP_003554	O43791	SPOP_HUMAN	speckle-type POZ protein	8					mRNA processing	nucleus	protein binding			prostate(2)|ovary(2)|lung(2)	6						CTGCCGGAGGTGGAGGACTTG	0.502										Prostate(2;0.17)		
SPATA20	64847	broad.mit.edu	37	17	48627597	48627597	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:48627597A>G	uc002irf.2	+	8	1115	c.974A>G	c.(973-975)CAG>CGG	p.Q325R	SPATA20_uc002irc.2_5'UTR|SPATA20_uc002ire.2_Missense_Mutation_p.Q281R|SPATA20_uc002ird.2_Missense_Mutation_p.Q341R|SPATA20_uc010wmv.1_Missense_Mutation_p.S382G|SPATA20_uc002irg.2_RNA	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	325					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)			ACAGACCGCCAGTGGCACGTC	0.637											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
WFIKKN2	124857	broad.mit.edu	37	17	48917620	48917620	+	Missense_Mutation	SNP	C	C	T	rs141860715	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:48917620C>T	uc002isv.3	+	2	1665	c.971C>T	c.(970-972)CCG>CTG	p.P324L	WFIKKN2_uc010dbu.2_Missense_Mutation_p.P231L	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	WFIKKN2 protein	324						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			ACGGCTTTCCCGGCGGCCGAG	0.647												
SPAG9	9043	broad.mit.edu	37	17	49067155	49067155	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:49067155G>A	uc002itc.2	-	21	2905	c.2696C>T	c.(2695-2697)GCG>GTG	p.A899V	SPAG9_uc002itb.2_Missense_Mutation_p.A885V|SPAG9_uc002itd.2_Missense_Mutation_p.A889V|SPAG9_uc002itf.2_Missense_Mutation_p.A720V|SPAG9_uc002ita.2_Missense_Mutation_p.A742V|SPAG9_uc002ite.2_Missense_Mutation_p.A729V	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	sperm associated antigen 9 isoform 1	899					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				lung(4)|breast(1)	5			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			AGCTGACCCCGCATTCCCTTC	0.443												
C17orf71	55181	broad.mit.edu	37	17	57288418	57288418	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:57288418G>A	uc002ixi.2	+	1	1048	c.1006G>A	c.(1006-1008)GTG>ATG	p.V336M		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	336					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CCAAGCTTTCGTGTACATAGT	0.502												
HEATR6	63897	broad.mit.edu	37	17	58121371	58121371	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:58121371G>A	uc002iyk.1	-	20	3116	c.3099C>T	c.(3097-3099)TAC>TAT	p.Y1033Y	HEATR6_uc010ddk.1_Silent_p.Y572Y|HEATR6_uc010wos.1_Silent_p.Y753Y	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	1033							binding			ovary(1)|skin(1)	2	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CAACAGACCCGTACTGCTCTC	0.498												
SCN4A	6329	broad.mit.edu	37	17	62036661	62036661	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:62036661G>A	uc002jds.1	-	12	2060	c.1983C>T	c.(1981-1983)AAC>AAT	p.N661N		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	661	II.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	GTCCCTGTACGTTGGCCAGGC	0.587												
NOL11	25926	broad.mit.edu	37	17	65720282	65720282	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:65720282C>T	uc002jgd.1	+	6	640	c.637C>T	c.(637-639)CGG>TGG	p.R213W	NOL11_uc010wql.1_Missense_Mutation_p.R31W|NOL11_uc010deu.1_5'UTR	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	213						nucleolus					0	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATCTGTAGATCGGAAATTCAT	0.299												
ABCA9	10350	broad.mit.edu	37	17	66982438	66982438	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:66982438C>T	uc002jhu.2	-	32	4218	c.4075G>A	c.(4075-4077)GAA>AAA	p.E1359K	ABCA9_uc010dez.2_Missense_Mutation_p.E1321K	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	1359	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					CCCAGGGGTTCCCCTCCACCG	0.507												
SSTR2	6752	broad.mit.edu	37	17	71166486	71166486	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:71166486G>A	uc002jje.2	+	2	1388	c.1028G>A	c.(1027-1029)AGT>AAT	p.S343N		NM_001050	NP_001041	P30874	SSR2_HUMAN	somatostatin receptor 2	343	Cytoplasmic (Potential).				digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity				0			LUSC - Lung squamous cell carcinoma(166;0.197)			CGGAGTGACAGTAAGCAGGAC	0.532												
SLC16A5	9121	broad.mit.edu	37	17	73096287	73096287	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:73096287G>A	uc002jmr.2	+	5	901	c.529G>A	c.(529-531)GGG>AGG	p.G177R	SLC16A5_uc002jms.1_Missense_Mutation_p.G177R|SLC16A5_uc002jmt.2_Missense_Mutation_p.G177R|SLC16A5_uc002jmu.2_Missense_Mutation_p.G177R|SLC16A5_uc010wrt.1_Missense_Mutation_p.G217R	NM_004695	NP_004686	O15375	MOT6_HUMAN	solute carrier family 16, member 5	177	Helical; (Potential).				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)	1	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TGTCTTCGGCGGGATCTTTCT	0.642												
NUP85	79902	broad.mit.edu	37	17	73230741	73230741	+	Missense_Mutation	SNP	G	G	A	rs147921665		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:73230741G>A	uc002jng.1	+	17	1885	c.1625G>A	c.(1624-1626)CGC>CAC	p.R542H	NUP85_uc010dgd.1_Missense_Mutation_p.R497H|NUP85_uc010wrv.1_Missense_Mutation_p.R496H|NUP85_uc002jnh.1_Missense_Mutation_p.R145H	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	nucleoporin 85	542					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			ovary(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			GGAAAGTATCGCGAGTTCCAC	0.522												
LLGL2	3993	broad.mit.edu	37	17	73539557	73539557	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:73539557A>G	uc002joh.2	+	2	204	c.50A>G	c.(49-51)AAG>AGG	p.K17R	LLGL2_uc002jog.1_Missense_Mutation_p.K17R|LLGL2_uc010dgf.1_Missense_Mutation_p.K17R|LLGL2_uc002joi.2_Missense_Mutation_p.K17R|LLGL2_uc010dgg.1_Missense_Mutation_p.K17R	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	17					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GAGAGGCTCAAGCGGGACCTG	0.393												
ITGB4	3691	broad.mit.edu	37	17	73723340	73723340	+	Missense_Mutation	SNP	G	G	A	rs146966502		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:73723340G>A	uc002jpg.2	+	3	332	c.145G>A	c.(145-147)GCC>ACC	p.A49T	ITGB4_uc002jph.2_Missense_Mutation_p.A49T|ITGB4_uc010dgo.2_Missense_Mutation_p.A49T|ITGB4_uc002jpi.3_Missense_Mutation_p.A49T|ITGB4_uc010dgp.1_Missense_Mutation_p.A49T|ITGB4_uc002jpj.2_Missense_Mutation_p.A49T	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	49	PSI.|Extracellular (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TAAGGACTGCGCCTACTGCAC	0.602												
JMJD6	23210	broad.mit.edu	37	17	74719969	74719969	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:74719969G>A	uc002jso.2	-	3	1014	c.690C>T	c.(688-690)GAC>GAT	p.D230D	JMJD6_uc002jsn.1_Silent_p.D230D|JMJD6_uc010dgz.2_Silent_p.D230D|C17orf95_uc002jsp.2_5'Flank|C17orf95_uc002jsq.2_5'Flank|C17orf95_uc002jsr.2_5'Flank|C17orf95_uc002jss.2_5'Flank|C17orf95_uc002jst.2_5'Flank	NM_015167	NP_055982	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6 isoform 2	230	JmjC.				mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			skin(2)|ovary(1)	3						TAATAGCTTCGTCTTGCTGGT	0.502												
SEC14L1	6397	broad.mit.edu	37	17	75196739	75196739	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:75196739G>A	uc002jto.2	+	9	1260	c.993G>A	c.(991-993)TGG>TGA	p.W331*	SEC14L1_uc010dhc.2_Nonsense_Mutation_p.W331*|SEC14L1_uc010wth.1_Nonsense_Mutation_p.W331*|SEC14L1_uc002jtm.2_Nonsense_Mutation_p.W331*|SEC14L1_uc010wti.1_Nonsense_Mutation_p.W297*	NM_003003	NP_002994	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform a	331	CRAL-TRIO.				transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2						CGGGAGGCTGGCATCATCACG	0.498												
DNAH17	8632	broad.mit.edu	37	17	76503643	76503643	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:76503643C>T	uc010wtu.1	-	2	533	c.356G>A	c.(355-357)CGA>CAA	p.R119Q						full-length cDNA clone CS0DJ002YI14 of T cells (Jurkat cell line) Cot 10-normalized of Homo sapiens (human).											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCTCCAGGTTCGCTGGACCTC	0.592												
CBX8	57332	broad.mit.edu	37	17	77770056	77770056	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:77770056C>G	uc002jxd.1	-	3	265	c.172G>C	c.(172-174)GAG>CAG	p.E58Q		NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	chromobox homolog 8	58	Chromo.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding				0			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TACCTTTCCTCAAAGGCTGCG	0.517												
AZI1	22994	broad.mit.edu	37	17	79173615	79173615	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:79173615G>A	uc002jzp.1	-	9	1127	c.927C>T	c.(925-927)GGC>GGT	p.G309G	AZI1_uc002jzm.1_5'Flank|AZI1_uc002jzn.1_Silent_p.G309G|AZI1_uc002jzo.1_Silent_p.G309G|AZI1_uc010wum.1_Silent_p.G309G	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	309					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				central_nervous_system(2)|large_intestine(1)|ovary(1)	4	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GGGTCCCCTCGCCTGACCGCT	0.632												
TBCD	6904	broad.mit.edu	37	17	80863898	80863898	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:80863898G>A	uc002kfz.2	+	20	2021	c.1891G>A	c.(1891-1893)GCC>ACC	p.A631T	TBCD_uc002kfx.1_Missense_Mutation_p.A614T|TBCD_uc002kfy.1_Missense_Mutation_p.A631T|TBCD_uc002kgb.1_5'UTR	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	631	HEAT 3.				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				0	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			AGTTGCTTACGCCTTGTACAA	0.547												
METRNL	284207	broad.mit.edu	37	17	81052065	81052065	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:81052065G>A	uc002kgh.2	+	4	806	c.681G>A	c.(679-681)CTG>CTA	p.L227L	METRNL_uc002kgi.2_Silent_p.L145L	NM_001004431	NP_001004431	Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation	227						extracellular region					0	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			CCATCCACCTGCGCGTGAGCA	0.652												
PTPRM	5797	broad.mit.edu	37	18	8379271	8379271	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:8379271G>T	uc002knn.3	+	26	4183	c.3680G>T	c.(3679-3681)CGC>CTC	p.R1227L	PTPRM_uc010dkv.2_Missense_Mutation_p.R1240L|PTPRM_uc010wzl.1_Missense_Mutation_p.R1014L	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1227	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				CCCCCAGACCGCTGCCTGCCC	0.607												
RIOK3	8780	broad.mit.edu	37	18	21056996	21056996	+	Silent	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:21056996T>C	uc002kui.3	+	10	1817	c.1200T>C	c.(1198-1200)TGT>TGC	p.C400C	RIOK3_uc010dls.2_Silent_p.C400C|RIOK3_uc010xas.1_Silent_p.C384C|RIOK3_uc010xat.1_Silent_p.C144C	NM_003831	NP_003822	O14730	RIOK3_HUMAN	sudD suppressor of bimD6 homolog	400	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATCATGAATGTACGCTTGTCC	0.393												
NPC1	4864	broad.mit.edu	37	18	21112182	21112182	+	Missense_Mutation	SNP	C	C	T	rs151305963		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:21112182C>T	uc002kum.3	-	25	4095	c.3821G>A	c.(3820-3822)CGG>CAG	p.R1274Q	NPC1_uc010dlu.1_Intron|NPC1_uc010xaz.1_Missense_Mutation_p.R1007Q	NM_000271	NP_000262	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1 precursor	1274					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)					ATTTAGAAGCCGTTCGCGCTC	0.498												
KLHL14	57565	broad.mit.edu	37	18	30275442	30275442	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:30275442G>A	uc002kxm.1	-	4	1531	c.1143C>T	c.(1141-1143)GAC>GAT	p.D381D	KLHL14_uc010dmd.1_5'UTR	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	381	Kelch 2.					cytosol|endoplasmic reticulum membrane				ovary(1)	1						GATTCCACTGGTCCTCTCCAC	0.408												
ASXL3	80816	broad.mit.edu	37	18	31323088	31323088	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:31323088G>T	uc010dmg.1	+	12	3331	c.3276G>T	c.(3274-3276)GAG>GAT	p.E1092D	ASXL3_uc002kxq.2_Missense_Mutation_p.E799D	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1092					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						GTCCAGGAGAGGGTGGAAAGA	0.577												
SLC14A2	8170	broad.mit.edu	37	18	43262376	43262376	+	Silent	SNP	G	G	A	rs143610580		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:43262376G>A	uc010dnj.2	+	21	2976	c.2655G>A	c.(2653-2655)CCG>CCA	p.P885P	SLC14A2_uc002lbe.2_Silent_p.P885P	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	885						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.P885P(1)		upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						ACAAGCTCCCGCTCAGCAAAG	0.542												
KIAA1632	57724	broad.mit.edu	37	18	43446800	43446800	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:43446800G>A	uc002lbm.2	-	38	6684	c.6584C>T	c.(6583-6585)GCG>GTG	p.A2195V	KIAA1632_uc010xcq.1_Missense_Mutation_p.A749V|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.A1070V	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	2195					autophagy						0						AGAAAGGCCCGCAGACACTTT	0.448												
TCEB3B	51224	broad.mit.edu	37	18	44561181	44561181	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:44561181C>A	uc002lcr.1	-	1	808	c.455G>T	c.(454-456)AGA>ATA	p.R152I	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	152					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						TCTCTCAGCTCTGGGCTCGCG	0.657												
MYO5B	4645	broad.mit.edu	37	18	47390531	47390531	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:47390531G>A	uc002leb.2	-	28	4111	c.3823C>T	c.(3823-3825)CGA>TGA	p.R1275*	MYO5B_uc002lea.2_Nonsense_Mutation_p.R416*	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	1275					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)		CCGGCGAGTCGCCGCTGGTCG	0.612												
CCDC11	220136	broad.mit.edu	37	18	47778135	47778135	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:47778135G>A	uc002lee.2	-	4	584	c.493C>T	c.(493-495)CGT>TGT	p.R165C		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	165										ovary(1)|pancreas(1)|skin(1)	3				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		AATTCAACACGGAGCTCCTCA	0.453												
ALPK2	115701	broad.mit.edu	37	18	56204716	56204716	+	Silent	SNP	T	T	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:56204716T>G	uc002lhj.3	-	5	2917	c.2703A>C	c.(2701-2703)ACA>ACC	p.T901T	ALPK2_uc002lhk.1_Silent_p.T232T	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	901							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						CTTCACTAGCTGTGTGTGAAA	0.512												
CPLX4	339302	broad.mit.edu	37	18	56963955	56963955	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:56963955G>A	uc002lhy.2	-	3	645	c.458C>T	c.(457-459)GCG>GTG	p.A153V		NM_181654	NP_857637	Q7Z7G2	CPLX4_HUMAN	complexin 4 precursor	153					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding			ovary(1)	1		Colorectal(73;0.175)				CTTCTGCTCCGCTGTCTGCTT	0.498												
CDH20	28316	broad.mit.edu	37	18	59221671	59221671	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:59221671G>A	uc010dps.1	+	11	2161	c.2149G>A	c.(2149-2151)GCA>ACA	p.A717T	CDH20_uc002lif.2_Missense_Mutation_p.A711T	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	717	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				TCAGACGTGCGCAGTGAACAG	0.662												
PHLPP1	23239	broad.mit.edu	37	18	60646006	60646006	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:60646006C>T	uc002lis.2	+	18	3138	c.2960C>T	c.(2959-2961)CCG>CTG	p.P987L		NM_194449	NP_919431	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein	1499					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity				0						GATGAGCCCCCGCCCGGAGCC	0.632												
SOCS6	9306	broad.mit.edu	37	18	67992102	67992102	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:67992102C>T	uc002lkr.1	+	2	514	c.198C>T	c.(196-198)AAC>AAT	p.N66N	SOCS6_uc010dqq.2_Silent_p.N66N	NM_004232	NP_004223	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	66					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				large_intestine(1)|lung(1)	2		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GCGGAAAAAACAGATCAAAAA	0.478												
ATP9B	374868	broad.mit.edu	37	18	77067118	77067118	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:77067118A>G	uc002lmx.2	+	15	1671	c.1657A>G	c.(1657-1659)AAC>GAC	p.N553D	ATP9B_uc002lmv.1_RNA|ATP9B_uc002lmw.1_Missense_Mutation_p.N553D|ATP9B_uc002lmz.1_Missense_Mutation_p.N247D	NM_198531	NP_940933	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	553	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)	3		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GCTGTGTCACAACGTGACCCC	0.517												
CTDP1	9150	broad.mit.edu	37	18	77477825	77477825	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:77477825G>A	uc002lnh.1	+	10	2373	c.2226G>A	c.(2224-2226)GCG>GCA	p.A742A	CTDP1_uc002lni.1_Silent_p.A742A|CTDP1_uc010drd.1_Silent_p.A742A	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	742					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		ACAGCCCTGCGGCCTTTCCCG	0.667												
C18orf22	79863	broad.mit.edu	37	18	77798609	77798609	+	Silent	SNP	G	G	A	rs143262320	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:77798609G>A	uc002lns.2	+	4	621	c.483G>A	c.(481-483)GCG>GCA	p.A161A	C18orf22_uc010drh.2_Silent_p.A161A|C18orf22_uc010dri.1_Intron|C18orf22_uc002lnt.2_5'Flank	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN	hypothetical protein LOC79863 precursor	161					rRNA processing	mitochondrion					0		all_cancers(4;3.21e-14)|all_epithelial(4;7.11e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0545)|all_hematologic(56;0.15)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;6.46e-08)|BRCA - Breast invasive adenocarcinoma(31;0.00376)		GAAGTGCCGCGCACATGAGGT	0.498												
SHC2	25759	broad.mit.edu	37	19	422256	422256	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:422256C>T	uc002loq.3	-	11	1510	c.1510G>A	c.(1510-1512)GAC>AAC	p.D504N	SHC2_uc002lop.3_Missense_Mutation_p.D245N	NM_012435	NP_036567	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing)	504	SH2.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol					0		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGTCCCCGTCAGCTCGAAGC	0.701												
ABCA7	10347	broad.mit.edu	37	19	1048922	1048922	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:1048922T>A	uc002lqw.3	+	17	2529	c.2298T>A	c.(2296-2298)AAT>AAA	p.N766K	ABCA7_uc010dsb.1_Missense_Mutation_p.N628K	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	766					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AACCATGGAATTTTCCTTTTC	0.592												
APC2	10297	broad.mit.edu	37	19	1455462	1455462	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:1455462G>A	uc002lsr.1	+	6	810	c.602G>A	c.(601-603)CGC>CAC	p.R201H	APC2_uc002lss.1_5'UTR|APC2_uc002lst.1_Missense_Mutation_p.R201H|APC2_uc002lsu.1_Missense_Mutation_p.R200H	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	201					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|pancreas(1)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGGAGGAGCGCTTCGGCACC	0.692												
TMEM146	257062	broad.mit.edu	37	19	5745968	5745968	+	Silent	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:5745968G>T	uc002mda.2	+	9	763	c.702G>T	c.(700-702)GGG>GGT	p.G234G	TMEM146_uc010duj.1_5'UTR	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	transmembrane protein 146 precursor	234	Extracellular (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						GGAGTTTCGGGCTGTCTTTTG	0.522												
RANBP3	8498	broad.mit.edu	37	19	5933443	5933443	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:5933443C>T	uc002mdw.2	-	6	681	c.454G>A	c.(454-456)GGC>AGC	p.G152S	RANBP3_uc002mdv.2_5'UTR|RANBP3_uc002mdx.2_Missense_Mutation_p.G152S|RANBP3_uc002mdy.2_Missense_Mutation_p.G84S|RANBP3_uc002mdz.2_Missense_Mutation_p.G84S|RANBP3_uc010duq.2_Missense_Mutation_p.G62S|RANBP3_uc002mea.2_Missense_Mutation_p.G24S|RANBP3_uc010xix.1_Missense_Mutation_p.G24S	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3 isoform RANBP3-d	152					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)	1						GGGGCTTGGCCGTGGATCAGC	0.622												
CD209	30835	broad.mit.edu	37	19	7810788	7810788	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:7810788C>T	uc002mht.2	-	4	431	c.364G>A	c.(364-366)GAG>AAG	p.E122K	CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Missense_Mutation_p.E98K|CD209_uc002mhr.2_Missense_Mutation_p.E98K|CD209_uc002mhs.2_Missense_Mutation_p.E98K|CD209_uc002mhu.2_Missense_Mutation_p.E122K|CD209_uc010dvq.2_Missense_Mutation_p.E122K|CD209_uc002mhq.2_Missense_Mutation_p.E122K|CD209_uc002mhv.2_Missense_Mutation_p.E98K|CD209_uc002mhx.2_Missense_Mutation_p.E78K|CD209_uc002mhw.2_Missense_Mutation_p.E78K|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	CD209 molecule isoform 1	122	Extracellular (Probable).|2.|7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			skin(1)	1						TGGTAGATCTCCTGCAGCTTA	0.562												
MUC16	94025	broad.mit.edu	37	19	9019283	9019283	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:9019283C>T	uc002mkp.2	-	23	37808	c.37604G>A	c.(37603-37605)AGC>AAC	p.S12535N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12537	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						ACTTGCGGGGCTTGGGAGGGA	0.443												
MUC16	94025	broad.mit.edu	37	19	9061718	9061718	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:9061718G>A	uc002mkp.2	-	3	25932	c.25728C>T	c.(25726-25728)TTC>TTT	p.F8576F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8578	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTAATGTGGAGAAAAAAGAAG	0.537												
COL5A3	50509	broad.mit.edu	37	19	10076989	10076989	+	Splice_Site	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:10076989C>T	uc002mmq.1	-	64	4868	c.4782_splice	c.e64+1	p.I1594_splice		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein						collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			GGGTTACTCACGATCTCAAAC	0.542												
ILF3	3609	broad.mit.edu	37	19	10793817	10793817	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:10793817G>T	uc002mpn.2	+	14	1870	c.1553G>T	c.(1552-1554)GGG>GTG	p.G518V	ILF3_uc002mpm.2_Missense_Mutation_p.G522V|ILF3_uc002mpl.2_Missense_Mutation_p.G518V|ILF3_uc002mpk.2_Missense_Mutation_p.G518V|ILF3_uc010xli.1_Missense_Mutation_p.G116V|ILF3_uc002mpo.2_Missense_Mutation_p.G522V|ILF3_uc002mpp.2_Missense_Mutation_p.G343V|ILF3_uc002mpq.2_5'Flank	NM_012218	NP_036350	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3 isoform a	518					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding			ovary(3)	3			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AAACAGCAGGGGCCGATCCTG	0.567												
ILF3	3609	broad.mit.edu	37	19	10798154	10798154	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:10798154C>A	uc002mpn.2	+	18	2509	c.2192C>A	c.(2191-2193)GCT>GAT	p.A731D	ILF3_uc002mpo.2_Missense_Mutation_p.A735D|ILF3_uc002mpq.2_Missense_Mutation_p.L34M	NM_012218	NP_036350	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3 isoform a	731	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding			ovary(3)	3			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CCAAAACACGCTGGGAAGAAG	0.657												
LOC55908	55908	broad.mit.edu	37	19	11350389	11350389	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:11350389G>A	uc010dxx.2	+	2	237	c.235G>A	c.(235-237)GGC>AGC	p.G79S	DOCK6_uc010xlq.1_5'Flank|DOCK6_uc002mqs.3_Intron|LOC55908_uc010dxw.2_Intron	NM_018687	NP_061157	Q6UXH0	TD26_HUMAN	hepatocellular carcinoma-associated gene TD26	26						extracellular region					0						CCCCATGGGCGGCCCAGAACT	0.657												
ZNF440	126070	broad.mit.edu	37	19	11943295	11943295	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:11943295A>C	uc002msp.1	+	4	1460	c.1304A>C	c.(1303-1305)TAT>TCT	p.Y435S		NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	435	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GCCTTCAGATATGTGAATAAC	0.413												
ZNF440	126070	broad.mit.edu	37	19	11943375	11943375	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:11943375A>C	uc002msp.1	+	4	1540	c.1384A>C	c.(1384-1386)ATA>CTA	p.I462L		NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	462	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TAAATGTAAGATATGTGGGAA	0.368												
GCDH	2639	broad.mit.edu	37	19	13008623	13008623	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:13008623G>A	uc002mvq.2	+	11	1266	c.1189G>A	c.(1189-1191)GAG>AAG	p.E397K	GCDH_uc010xms.1_3'UTR|GCDH_uc002mvp.2_Missense_Mutation_p.E397K|GCDH_uc010xmt.1_Missense_Mutation_p.E231K|GCDH_uc010xmu.1_Missense_Mutation_p.E353K	NM_000159	NP_000150	Q92947	GCDH_HUMAN	glutaryl-Coenzyme A dehydrogenase isoform a	397					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding				0						GATTTCTGACGAGTATCACGT	0.567												
IER2	9592	broad.mit.edu	37	19	13264528	13264528	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:13264528C>T	uc002mwr.2	+	2	856	c.528C>T	c.(526-528)CGC>CGT	p.R176R		NM_004907	NP_004898	Q9BTL4	IER2_HUMAN	immediate early response 2	176								p.A175fs*42(1)		kidney(1)	1			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			ACCTGGCCCGCGTCCTGCAGA	0.721												
NOTCH3	4854	broad.mit.edu	37	19	15278099	15278099	+	Missense_Mutation	SNP	C	C	T	rs139983430		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:15278099C>T	uc002nan.2	-	29	5399	c.5323G>A	c.(5323-5325)GCA>ACA	p.A1775T		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	1775	Cytoplasmic (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCAGCATCTGCGTCGCCCTGT	0.587												
NOTCH3	4854	broad.mit.edu	37	19	15302604	15302604	+	Missense_Mutation	SNP	C	C	T	rs115836330	by1000genomes	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:15302604C>T	uc002nan.2	-	5	830	c.754G>A	c.(754-756)GTG>ATG	p.V252M	NOTCH3_uc002nao.1_Missense_Mutation_p.V252M	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	252	Extracellular (Potential).|EGF-like 6; calcium-binding (Potential).		Missing (in CADASIL).		Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ACGCCATCCACGCATGTCCCC	0.612												
ZNF101	94039	broad.mit.edu	37	19	19790942	19790942	+	Silent	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:19790942C>A	uc002nni.1	+	4	1254	c.1144C>A	c.(1144-1146)CGA>AGA	p.R382R	ZNF101_uc010ecg.1_Silent_p.R262R|ZNF101_uc002nnj.1_Silent_p.R262R	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN	zinc finger protein 101	382	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CAGTTCCCTCCGAAGACATGA	0.378												
ZNF100	163227	broad.mit.edu	37	19	21909815	21909815	+	Silent	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:21909815T>C	uc002nqi.2	-	5	1498	c.1299A>G	c.(1297-1299)GAA>GAG	p.E433E	ZNF100_uc002nqh.2_Silent_p.E369E	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	433	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTTTGCCACATTCTTCACATT	0.403												
C19orf2	8725	broad.mit.edu	37	19	30505891	30505891	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:30505891G>A	uc002nsr.2	+	11	1553	c.1523G>A	c.(1522-1524)CGA>CAA	p.R508Q	C19orf2_uc002nsq.2_Intron|C19orf2_uc002nss.2_Missense_Mutation_p.R468Q|C19orf2_uc002nst.2_Missense_Mutation_p.R432Q	NM_003796	NP_003787	O94763	RMP_HUMAN	RPB5-mediating protein isoform a	508					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding			ovary(1)|kidney(1)	2	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)		ATTCCAGAACGAAAGGAAGTT	0.433												
PEPD	5184	broad.mit.edu	37	19	33968993	33968993	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:33968993G>A	uc002nur.3	-	7	642	c.507C>T	c.(505-507)TTC>TTT	p.F169F	PEPD_uc010xrr.1_Silent_p.F169F|PEPD_uc010xrs.1_Silent_p.F105F	NM_000285	NP_000276	P12955	PEPD_HUMAN	prolidase isoform 1	169					cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity			ovary(2)	2	Esophageal squamous(110;0.137)					TGTTGACTTCGAACCTGTAGG	0.478												
PEPD	5184	broad.mit.edu	37	19	33980958	33980958	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:33980958G>A	uc002nur.3	-	6	582	c.447C>T	c.(445-447)GGC>GGT	p.G149G	PEPD_uc010xrr.1_Silent_p.G149G|PEPD_uc010xrs.1_Silent_p.G85G	NM_000285	NP_000276	P12955	PEPD_HUMAN	prolidase isoform 1	149					cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity	p.G149G(1)		ovary(2)	2	Esophageal squamous(110;0.137)					CCGTGTTGACGCCACGCTGGG	0.652												
HPN	3249	broad.mit.edu	37	19	35550661	35550661	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:35550661A>G	uc002nxq.1	+	6	490	c.245A>G	c.(244-246)AAC>AGC	p.N82S	HPN_uc002nxr.1_Missense_Mutation_p.N82S|HPN_uc002nxs.1_Missense_Mutation_p.N34S|HPN_uc010xsh.1_Missense_Mutation_p.N51S|HPN_uc002nxt.1_5'UTR|LOC100128675_uc010xsi.1_Silent_p.L82L	NM_002151	NP_002142	P05981	HEPS_HUMAN	hepsin	82	SRCR.|Extracellular (Potential).				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	TCGCGCTCCAACGCCAGGGTA	0.682												
MAG	4099	broad.mit.edu	37	19	35801452	35801452	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:35801452C>T	uc002nyy.1	+	9	1671	c.1522C>T	c.(1522-1524)CGA>TGA	p.R508*	MAG_uc002nyx.1_Nonsense_Mutation_p.R508*|MAG_uc010eds.1_Nonsense_Mutation_p.R483*|MAG_uc002nyz.1_Nonsense_Mutation_p.R508*	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	508	Ig-like C2-type 4.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GTCCTCAGATCGACTGATGTG	0.562												
FFAR1	2864	broad.mit.edu	37	19	35842942	35842942	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:35842942C>T	uc002nzc.2	+	1	498	c.488C>T	c.(487-489)CCG>CTG	p.P163L		NM_005303	NP_005294	O14842	FFAR1_HUMAN	free fatty acid receptor 1	163	Extracellular (Potential).				energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)	1	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	ATCAACACACCGGTCAACGGC	0.657												
MLL4	9757	broad.mit.edu	37	19	36229028	36229028	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:36229028A>C	uc010eei.2	+	37	7808	c.7808A>C	c.(7807-7809)GAG>GCG	p.E2603A		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	2603	SET.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATGGTCATCGAGTACTCTGGC	0.592												
ARHGAP33	115703	broad.mit.edu	37	19	36279193	36279193	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:36279193C>T	uc002obs.1	+	21	3328	c.3243C>T	c.(3241-3243)TAC>TAT	p.Y1081Y	ARHGAP33_uc002obt.1_Silent_p.Y1078Y|ARHGAP33_uc010eel.2_Intron|ARHGAP33_uc002obv.1_Silent_p.Y830Y	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	1242					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						CGCCAGCCTACGGAAGGGGGG	0.687												
LRFN3	79414	broad.mit.edu	37	19	36430659	36430659	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:36430659C>T	uc002oco.2	+	2	784	c.332C>T	c.(331-333)GCC>GTC	p.A111V		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	111	LRR 3.|Extracellular (Potential).				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCCCTGCGTGCCCTGCACCTG	0.682												
ZNF461	92283	broad.mit.edu	37	19	37130820	37130820	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:37130820C>T	uc002oem.2	-	6	655	c.427G>A	c.(427-429)GCT>ACT	p.A143T	ZNF461_uc002oen.2_Missense_Mutation_p.A112T|ZNF461_uc010xtj.1_Missense_Mutation_p.A120T	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	gonadotropin inducible transcription repressor	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCCCAGATAGCGCTGAAAATT	0.373												
ZNF793	390927	broad.mit.edu	37	19	38027882	38027882	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:38027882T>A	uc010efm.2	+	8	764	c.322T>A	c.(322-324)TTG>ATG	p.L108M	ZNF793_uc010xts.1_Missense_Mutation_p.L108M|ZNF793_uc010efo.2_Missense_Mutation_p.L108M	NM_001013659	NP_001013681	Q6ZN11	ZN793_HUMAN	zinc finger protein 793	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAAGAAAACATTGCCCAAGGA	0.433												
SPINT2	10653	broad.mit.edu	37	19	38780920	38780920	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:38780920C>T	uc002ohr.1	+	5	884	c.553C>T	c.(553-555)CGC>TGC	p.R185C	SPINT2_uc002ohs.1_Missense_Mutation_p.R128C	NM_021102	NP_066925	O43291	SPIT2_HUMAN	serine protease inhibitor, Kunitz type, 2	185	Extracellular (Potential).				cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity				0	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCGCTGCTTCCGTAAGTCTGC	0.567												
RYR1	6261	broad.mit.edu	37	19	38980003	38980003	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:38980003G>T	uc002oit.2	+	35	5864	c.5734G>T	c.(5734-5736)GAG>TAG	p.E1912*	RYR1_uc002oiu.2_Nonsense_Mutation_p.E1912*	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1912	Glu-rich (acidic).|Cytoplasmic.|6 X approximate repeats.				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)	agaggaagaggaggCAGCAGA	0.264												
RYR1	6261	broad.mit.edu	37	19	39019617	39019617	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:39019617G>A	uc002oit.2	+	76	11191	c.11061G>A	c.(11059-11061)GAG>GAA	p.E3687E	RYR1_uc002oiu.2_Silent_p.E3682E|RYR1_uc002oiv.1_Silent_p.E602E|RYR1_uc010xuf.1_Silent_p.E607E	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3687					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)	aggaggaggaggaagaggtgg	0.493												
HNRNPL	3191	broad.mit.edu	37	19	39329144	39329144	+	Silent	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:39329144G>T	uc010xul.1	-	10	1461	c.1450C>A	c.(1450-1452)CGG>AGG	p.R484R	HNRNPL_uc010ege.1_Intron|HNRNPL_uc002ojj.1_Silent_p.R140R|HNRNPL_uc002ojo.1_Silent_p.R62R|HNRNPL_uc002ojk.2_Silent_p.R140R|HNRNPL_uc002ojl.2_Silent_p.R140R|HNRNPL_uc010xum.1_Silent_p.R351R	NM_001533	NP_001524	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	484					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)			GTGGAGAACCGATTGTTCCGG	0.572												
LRFN1	57622	broad.mit.edu	37	19	39805733	39805733	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:39805733G>A	uc002okw.2	-	1	244	c.244C>T	c.(244-246)CGC>TGC	p.R82C		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III	82	LRR 1.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				ovary(2)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			AAGTCTCGGCGGCGCACGGCG	0.677												
PLEKHG2	64857	broad.mit.edu	37	19	39914611	39914611	+	Silent	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:39914611T>C	uc010xuz.1	+	19	3163	c.2838T>C	c.(2836-2838)CAT>CAC	p.H946H	PLEKHG2_uc010xuy.1_Silent_p.H887H|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Silent_p.H724H	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	946					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			skin(2)|pancreas(1)|breast(1)	4	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GTTCCCGGCATGTCCAGGCTC	0.567												
SUPT5H	6829	broad.mit.edu	37	19	39961140	39961140	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:39961140C>T	uc002olo.3	+	18	1833	c.1654C>T	c.(1654-1656)CGA>TGA	p.R552*	SUPT5H_uc002olp.3_Nonsense_Mutation_p.R552*|SUPT5H_uc002olq.3_Nonsense_Mutation_p.R548*|SUPT5H_uc002oln.3_Nonsense_Mutation_p.R552*|SUPT5H_uc002olr.3_Nonsense_Mutation_p.R552*|SUPT5H_uc002ols.1_Nonsense_Mutation_p.R175*|SUPT5H_uc010egp.1_5'Flank	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	552					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGTCATCGTGCGACTAGAACG	0.597												
DLL3	10683	broad.mit.edu	37	19	39995921	39995921	+	Missense_Mutation	SNP	G	G	A	rs141671275	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:39995921G>A	uc002olx.2	+	6	981	c.923G>A	c.(922-924)CGG>CAG	p.R308Q	DLL3_uc010egq.2_Missense_Mutation_p.R308Q|DLL3_uc002olw.2_Missense_Mutation_p.R308Q	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	delta-like 3 protein isoform 1 precursor	308	EGF-like 2.|Extracellular (Potential).				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			central_nervous_system(2)|breast(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TACGGGCTGCGGTGTGAGGTG	0.592												
MAP3K10	4294	broad.mit.edu	37	19	40710471	40710471	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:40710471G>A	uc002ona.2	+	3	1231	c.943G>A	c.(943-945)GTG>ATG	p.V315M	MAP3K10_uc002onb.2_Translation_Start_Site	NM_002446	NP_002437	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase	315	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			ovary(2)|lung(2)|skin(1)|pancreas(1)	6						GGCGTATGGCGTGGCTATGAA	0.682												
HIPK4	147746	broad.mit.edu	37	19	40887032	40887032	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:40887032T>C	uc002onp.2	-	3	1151	c.866A>G	c.(865-867)GAC>GGC	p.D289G		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	289	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CTCAATCTGGTCCAACGACTT	0.632												
PRX	57716	broad.mit.edu	37	19	40901531	40901531	+	Missense_Mutation	SNP	C	C	T	rs145203783		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:40901531C>T	uc002onr.2	-	7	2997	c.2728G>A	c.(2728-2730)GCC>ACC	p.A910T	PRX_uc002onq.2_Missense_Mutation_p.A771T|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	910					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATTTCCACGGCGGGCAGCTGT	0.587												
SHKBP1	92799	broad.mit.edu	37	19	41094670	41094670	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:41094670G>A	uc002oob.2	+	14	1526	c.1477G>A	c.(1477-1479)GCT>ACT	p.A493T	SHKBP1_uc002ooc.2_Missense_Mutation_p.A468T|SHKBP1_uc002ood.2_Missense_Mutation_p.A493T|SHKBP1_uc010xvl.1_Missense_Mutation_p.A416T|SHKBP1_uc002ooe.2_Missense_Mutation_p.A330T|SHKBP1_uc002oof.2_Missense_Mutation_p.A330T|SHKBP1_uc010xvm.1_Missense_Mutation_p.A273T|SHKBP1_uc010xvn.1_Missense_Mutation_p.A371T	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	493						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|pancreas(1)	2			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGGCTGCAGTGCTGGCAATGA	0.627												
HNRNPUL1	11100	broad.mit.edu	37	19	41782099	41782099	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:41782099C>T	uc002oqb.3	+	5	971	c.682C>T	c.(682-684)CGG>TGG	p.R228W	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Missense_Mutation_p.R128W|HNRNPUL1_uc002oqa.3_Missense_Mutation_p.R128W|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.R228W|HNRNPUL1_uc002oqc.3_Missense_Mutation_p.R185W|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Missense_Mutation_p.R128W|HNRNPUL1_uc010ehn.2_Missense_Mutation_p.R128W|HNRNPUL1_uc010eho.2_Missense_Mutation_p.R128W|HNRNPUL1_uc010xvy.1_Missense_Mutation_p.R128W|HNRNPUL1_uc010ehp.2_Missense_Mutation_p.R84W|HNRNPUL1_uc010ehl.1_Missense_Mutation_p.R128W	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	228	B30.2/SPRY.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			central_nervous_system(1)|skin(1)	2						GGCCCGAGATCGGAGTAGTGG	0.463												
B3GNT8	374907	broad.mit.edu	37	19	41931674	41931674	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:41931674G>A	uc002oqs.2	-	3	1464	c.1010C>T	c.(1009-1011)ACT>ATT	p.T337I	CYP2F1_uc010xvw.1_Intron|B3GNT8_uc002oqt.1_Intron	NM_198540	NP_940942	Q7Z7M8	B3GN8_HUMAN	UDP-GlcNAc:betaGal	337	Lumenal (Potential).				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity				0						GCAAAGGCCAGTGTAGACGTC	0.687												
ATP1A3	478	broad.mit.edu	37	19	42486241	42486241	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:42486241G>A	uc002osg.2	-	9	1165	c.1011C>T	c.(1009-1011)ACC>ACT	p.T337T	ATP1A3_uc010xwf.1_Silent_p.T348T|ATP1A3_uc010xwg.1_Silent_p.T307T|ATP1A3_uc010xwh.1_Silent_p.T350T|ATP1A3_uc002osh.2_Silent_p.T337T	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	337	Cytoplasmic (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						TGCGCTTGGCGGTCAGCGTCA	0.493												
CEACAM1	634	broad.mit.edu	37	19	43023168	43023168	+	Missense_Mutation	SNP	G	G	A	rs138618516	by1000genomes	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:43023168G>A	uc002otv.2	-	5	1291	c.1178C>T	c.(1177-1179)ACG>ATG	p.T393M	uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|CEACAM1_uc010eii.2_Intron|CEACAM1_uc002otw.2_Missense_Mutation_p.T393M|CEACAM1_uc010eij.2_Missense_Mutation_p.T393M|CEACAM1_uc002otx.2_Intron|CEACAM1_uc002oty.2_Intron|CEACAM1_uc002otz.2_Intron|CEACAM1_uc010eik.2_Intron|CEACAM1_uc002oua.2_Missense_Mutation_p.T393M|CEACAM1_uc002oub.2_Silent_p.D348D	NM_001712	NP_001703	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion	393	Ig-like C2-type 3.|Extracellular (Potential).				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				ovary(1)|central_nervous_system(1)	2		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	ACACCAATACGTCCCAGCATC	0.512												
PSG3	5671	broad.mit.edu	37	19	43233450	43233450	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:43233450C>T	uc002oue.2	-	5	1200	c.1068G>A	c.(1066-1068)GCG>GCA	p.A356A	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Silent_p.A356A|PSG3_uc010eil.2_Silent_p.A378A	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	356	Ig-like C2-type 3.			Missing (in Ref. 9).	defense response|female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)				GGTTAGAGTCCGCGAAGCAGG	0.443												
IRGC	56269	broad.mit.edu	37	19	44223611	44223611	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:44223611T>C	uc002oxh.2	+	2	1048	c.901T>C	c.(901-903)TAC>CAC	p.Y301H		NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	301						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(69;0.0435)				ACTGCGTGGCTACCACCGCAG	0.667												
SFRS16	11129	broad.mit.edu	37	19	45556099	45556099	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:45556099G>A	uc002pak.2	+	4	346	c.248G>A	c.(247-249)CGT>CAT	p.R83H	SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_Intron|SFRS16_uc002pam.2_Missense_Mutation_p.R83H|SFRS16_uc002pan.1_RNA	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	splicing factor, arginine/serine-rich 16	83					mRNA processing|RNA splicing	nucleus					0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TTCGATGTCCGTGCCCACCTG	0.607												
ERCC2	2068	broad.mit.edu	37	19	45867584	45867584	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:45867584C>T	uc002pbj.2	-	9	771	c.724G>A	c.(724-726)GTC>ATC	p.V242I	ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Missense_Mutation_p.V164I|ERCC2_uc002pbk.2_Missense_Mutation_p.V218I|ERCC2_uc002pbl.3_Missense_Mutation_p.V218I|ERCC2_uc010xxj.1_RNA	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	242	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TCGATGCAGACGTTGTCTGGA	0.677			Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum			
FBXO46	23403	broad.mit.edu	37	19	46215641	46215641	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:46215641C>T	uc002pcy.2	-	2	1238	c.1113G>A	c.(1111-1113)ACG>ACA	p.T371T	FBXO46_uc002pcz.2_Silent_p.T371T	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	371							protein binding			ovary(1)|lung(1)|breast(1)	3		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CTACCACGCCCGTCACCACCA	0.692												
FBXO46	23403	broad.mit.edu	37	19	46215859	46215859	+	Silent	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:46215859G>T	uc002pcy.2	-	2	1020	c.895C>A	c.(895-897)CGA>AGA	p.R299R	FBXO46_uc002pcz.2_Silent_p.R299R	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	299							protein binding			ovary(1)|lung(1)|breast(1)	3		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		TCCTTGGCTCGGGCCCCAGGA	0.682												
RSPH6A	81492	broad.mit.edu	37	19	46314009	46314009	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:46314009G>A	uc002pdm.2	-	2	883	c.740C>T	c.(739-741)ACG>ATG	p.T247M	RSPH6A_uc002pdl.2_Translation_Start_Site	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	radial spokehead-like 1	247						intracellular				ovary(1)|central_nervous_system(1)	2						CTCCCACTGCGTGGTGCGGTT	0.622												
CCDC8	83987	broad.mit.edu	37	19	46915101	46915101	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:46915101C>G	uc002pep.2	-	1	1819	c.967G>C	c.(967-969)GCC>CCC	p.A323P		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	323						plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		TCAGCTGGGGCCCCTGCCCTC	0.627												
PNMAL1	55228	broad.mit.edu	37	19	46973245	46973245	+	Missense_Mutation	SNP	C	C	T	rs144904720	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:46973245C>T	uc002peq.3	-	2	1354	c.1048G>A	c.(1048-1050)GTG>ATG	p.V350M	PNMAL1_uc002per.3_Missense_Mutation_p.V350M	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	PNMA-like 1 isoform a	350											0		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		ACCCAGGCCACGGCCTTCTTC	0.597												
PNMAL2	57469	broad.mit.edu	37	19	46998617	46998617	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:46998617C>T	uc002pes.2	-	1	553	c.106G>A	c.(106-108)GAA>AAA	p.E36K	uc002peu.1_3'UTR	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	PNMA-like 2	36										central_nervous_system(1)	1		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		aggacggcttcgacgtctgcc	0												
GLTSCR1	29998	broad.mit.edu	37	19	48201924	48201924	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:48201924C>T	uc002phh.3	+	12	3476	c.3282C>T	c.(3280-3282)TCC>TCT	p.S1094S	GLTSCR1_uc002phi.3_Silent_p.S852S	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1094							protein binding			pancreas(3)	3		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		ACCAGGGCTCCGTCCTGCACC	0.662											OREG0025594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PLEKHA4	57664	broad.mit.edu	37	19	49340665	49340665	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:49340665G>A	uc002pkx.2	-	20	2772	c.2221C>T	c.(2221-2223)CGT>TGT	p.R741C	HSD17B14_uc002pkv.1_5'Flank|HSD17B14_uc010emk.1_5'Flank|PLEKHA4_uc002pkw.1_3'UTR|PLEKHA4_uc010eml.2_3'UTR	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing family A	741						cytoplasm|membrane	1-phosphatidylinositol binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CCTCCTCCACGCCCACTCCCT	0.711												
NUCB1	4924	broad.mit.edu	37	19	49404120	49404120	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:49404120G>A	uc002plb.3	+	2	139	c.67G>A	c.(67-69)GCC>ACC	p.A23T	NUCB1_uc002pla.2_Missense_Mutation_p.A23T|NUCB1_uc002plc.2_Missense_Mutation_p.A23T|TULP2_uc002pkz.2_5'Flank	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	nucleobindin 1 precursor	23						ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding				0		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		cctgctTCGCGCCGTGCTGGC	0.582												
DHDH	27294	broad.mit.edu	37	19	49439393	49439393	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:49439393G>A	uc002ple.1	+	3	347	c.307G>A	c.(307-309)GCG>ACG	p.A103T		NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN	dimeric dihydrodiol dehydrogenase	103					carbohydrate metabolic process		binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		GGGCGTGAACGCGGCGGAAGT	0.647												
NUP62	23636	broad.mit.edu	37	19	50412220	50412220	+	Missense_Mutation	SNP	G	G	C	rs149572563	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:50412220G>C	uc002pqx.2	-	2	949	c.845C>G	c.(844-846)ACC>AGC	p.T282S	IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Missense_Mutation_p.T282S|NUP62_uc002pqz.2_Missense_Mutation_p.T282S|NUP62_uc002pra.2_Missense_Mutation_p.T282S|NUP62_uc002prb.2_Missense_Mutation_p.T282S|NUP62_uc002prc.2_Intron	NM_153719	NP_714941	P37198	NUP62_HUMAN	nucleoporin 62kDa	282	15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding				0		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		gctgctgctggtggtggtggc	0.448												
SIGLEC5	8778	broad.mit.edu	37	19	52115550	52115550	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:52115550C>T	uc002pxe.2	-	9	1729	c.1590G>A	c.(1588-1590)TCG>TCA	p.S530S		NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5 precursor	530	Cytoplasmic (Potential).				cell adhesion	integral to membrane	sugar binding			skin(2)|breast(1)|central_nervous_system(1)	4		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TAGGCTCCCTCGACTTCATCT	0.552												
ZNF880	400713	broad.mit.edu	37	19	52888041	52888041	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:52888041C>T	uc002pzc.2	+	4	1257	c.1208C>T	c.(1207-1209)ACG>ATG	p.T403M		NM_001145434	NP_001138906	Q6PDB4	ZN880_HUMAN	zinc finger protein LOC400713	403					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0						AGAATGCACACGGGAGAGCAA	0.408												
LILRB2	10288	broad.mit.edu	37	19	54783692	54783692	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:54783692G>A	uc002qfb.2	-	4	575	c.309C>T	c.(307-309)CGC>CGT	p.R103R	LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Silent_p.R103R|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Silent_p.R103R|LILRB2_uc010yet.1_5'UTR|LILRB2_uc010yeu.1_RNA	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor,	103	Extracellular (Potential).|Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			skin(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACCACCGAGCGCGGCTGTAAT	0.587												
LILRB4	11006	broad.mit.edu	37	19	55177749	55177749	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:55177749C>T	uc002qgp.2	+	8	1295	c.933C>T	c.(931-933)GAC>GAT	p.D311D	LILRB4_uc002qgq.2_Silent_p.D311D|LILRB4_uc002qgr.2_Silent_p.D352D|LILRB4_uc010ert.2_Silent_p.D352D|LILRB4_uc010eru.2_Silent_p.D340D	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor,	311	Cytoplasmic (Potential).					integral to membrane|plasma membrane	antigen binding|receptor activity			ovary(3)	3				GBM - Glioblastoma multiforme(193;0.035)		AGCCCAAGGACGGGGGCCTAC	0.602												
KIR2DL1	3802	broad.mit.edu	37	19	55286823	55286823	+	Missense_Mutation	SNP	G	G	A	rs147043371	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:55286823G>A	uc002qhb.1	+	4	615	c.577G>A	c.(577-579)GGA>AGA	p.G193R	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_RNA|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Missense_Mutation_p.G193R	NM_014218	NP_055033	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two	193	Extracellular (Potential).|Ig-like C2-type 2.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)		TGCCACCCACGGAGGGACCTA	0.572												
FIZ1	84922	broad.mit.edu	37	19	56104559	56104559	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:56104559G>A	uc002qli.3	-	3	838	c.748C>T	c.(748-750)CAC>TAC	p.H250Y	FIZ1_uc002qlj.3_Missense_Mutation_p.H250Y	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	250	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		TGCAGGTCGTGCGTCAGCTTG	0.587												
NLRP5	126206	broad.mit.edu	37	19	56538862	56538862	+	Silent	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:56538862C>A	uc002qmj.2	+	7	1263	c.1263C>A	c.(1261-1263)GTC>GTA	p.V421V	NLRP5_uc002qmi.2_Silent_p.V402V	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	421	NACHT.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGTCAGAGGTCGTGTCTCCCC	0.547												
ZNF71	58491	broad.mit.edu	37	19	57133352	57133352	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:57133352G>A	uc002qnm.3	+	3	935	c.697G>A	c.(697-699)GAG>AAG	p.E233K		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	233	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CACCCAGCACGAGCGGATCCA	0.647												
USP29	57663	broad.mit.edu	37	19	57642249	57642249	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:57642249C>A	uc002qny.2	+	4	2562	c.2206C>A	c.(2206-2208)CAG>AAG	p.Q736K		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	736					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACAGCTCCAGCAGTGTATTGA	0.458												
ZNF543	125919	broad.mit.edu	37	19	57839291	57839291	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:57839291G>A	uc002qoi.1	+	4	806	c.461G>A	c.(460-462)CGT>CAT	p.R154H		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGTTCTGAACGTGATGGTTTG	0.453												
ZNF211	10520	broad.mit.edu	37	19	58153212	58153212	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:58153212A>G	uc002qpq.2	+	3	1538	c.1358A>G	c.(1357-1359)TAT>TGT	p.Y453C	ZNF211_uc010yhb.1_Missense_Mutation_p.Y457C|ZNF211_uc002qpp.2_Missense_Mutation_p.Y466C|ZNF211_uc002qpr.2_Missense_Mutation_p.Y517C|ZNF211_uc002qps.2_Missense_Mutation_p.Y518C|ZNF211_uc002qpt.2_Missense_Mutation_p.Y465C|ZNF211_uc010yhc.1_Missense_Mutation_p.Y465C|ZNF211_uc010yhd.1_Missense_Mutation_p.Y392C|ZNF211_uc010yhe.1_Missense_Mutation_p.Y444C	NM_198855	NP_942152	Q13398	ZN211_HUMAN	zinc finger protein 211 isoform 2	453	C2H2-type 9.					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)		GAAAGGCCTTATGTGTGTGGG	0.468												
ZSCAN4	201516	broad.mit.edu	37	19	58189782	58189782	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:58189782G>T	uc002qpu.2	+	5	1508	c.811G>T	c.(811-813)GGA>TGA	p.G271*		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	271					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TATGGTGATGGGAGCAGGGTG	0.493												
C19orf18	147685	broad.mit.edu	37	19	58483842	58483842	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:58483842A>G	uc002qqv.2	-	3	361	c.257T>C	c.(256-258)CTG>CCG	p.L86P		NM_152474	NP_689687	Q8NEA5	CS018_HUMAN	hypothetical protein LOC147685 precursor	86	Extracellular (Potential).					integral to membrane				ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		TTTATTCCTCAGGAATTTCAT	0.498												
SLC27A5	10998	broad.mit.edu	37	19	59011987	59011987	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:59011987G>A	uc002qtc.2	-	5	1379	c.1269C>T	c.(1267-1269)TTC>TTT	p.F423F	SLC27A5_uc002qtb.2_5'Flank	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid	423	Cytoplasmic (Probable).				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity				0		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GAATAGGACCGAAGCGCTGCT	0.592												
SLC27A5	10998	broad.mit.edu	37	19	59022708	59022708	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:59022708G>T	uc002qtc.2	-	1	725	c.615C>A	c.(613-615)AAC>AAA	p.N205K		NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid	205	Cytoplasmic (Probable).				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity				0		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GGCCATGCGGGTTGATCCAGG	0.677												
SNTG2	54221	broad.mit.edu	37	2	1263213	1263213	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:1263213G>A	uc002qwq.2	+	13	1205	c.1077G>A	c.(1075-1077)AAG>AAA	p.K359K	SNTG2_uc010ewi.2_Silent_p.K232K	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	359	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		AAGTTCACAAGGTAGGTATCT	0.433												
LPIN1	23175	broad.mit.edu	37	2	11964797	11964797	+	Silent	SNP	G	G	A	rs114931326	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:11964797G>A	uc010yjn.1	+	21	2827	c.2553G>A	c.(2551-2553)CCG>CCA	p.P851P	LPIN1_uc010yjm.1_Silent_p.P936P|LPIN1_uc002rbt.2_Silent_p.P851P|LPIN1_uc010yjo.1_Silent_p.P352P	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	lipin 1	851					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		ACGTTTTCCCGTTGCTGAAAA	0.498												
NBAS	51594	broad.mit.edu	37	2	15613424	15613424	+	Silent	SNP	G	G	A	rs138310172		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:15613424G>A	uc002rcc.1	-	16	1673	c.1647C>T	c.(1645-1647)TAC>TAT	p.Y549Y	NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	549										ovary(2)|liver(1)|skin(1)	4						TATCCAGGCCGTAGGTATGAG	0.408												
HS1BP3	64342	broad.mit.edu	37	2	20845204	20845204	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:20845204C>A	uc002rdw.1	-	2	135	c.94G>T	c.(94-96)GGC>TGC	p.G32C	HS1BP3_uc002rdx.2_Missense_Mutation_p.G32C|HS1BP3_uc002rdy.2_Missense_Mutation_p.G32C	NM_022460	NP_071905	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	32	PX.				cell communication		phosphatidylinositol binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCATCTTGCCCCGTACCTCC	0.607												
APOB	338	broad.mit.edu	37	2	21228330	21228330	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:21228330C>T	uc002red.2	-	26	11538	c.11410G>A	c.(11410-11412)GAA>AAA	p.E3804K		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3804					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)	AAGGAGTCTTCTGGTTGAGAA	0.423												
APOB	338	broad.mit.edu	37	2	21228376	21228376	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:21228376C>T	uc002red.2	-	26	11492	c.11364G>A	c.(11362-11364)GAG>GAA	p.E3788E		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3788					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)	GGAATTTTACCTCGGGGAGTG	0.398												
APOB	338	broad.mit.edu	37	2	21265342	21265342	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:21265342G>A	uc002red.2	-	3	256	c.128C>T	c.(127-129)GCG>GTG	p.A43V		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	43	Heparin-binding.				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)	GAATCGGGTCGCATCTTCTAA	0.517											OREG0014485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C2orf79	391356	broad.mit.edu	37	2	25013338	25013338	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:25013338C>T	uc002rfm.2	-	2	370	c.365G>A	c.(364-366)CGG>CAG	p.R122Q	CENPO_uc002rfn.2_5'Flank|CENPO_uc002rfo.1_5'Flank|CENPO_uc002rfp.1_5'Flank|CENPO_uc002rfq.1_5'Flank	NM_001013663	NP_001013685	Q6GMV3	PTRD1_HUMAN	hypothetical protein LOC391356	122					translation		aminoacyl-tRNA hydrolase activity|protein tyrosine phosphatase activity				0						GGGGTAGGGCCGGAGAGCAAT	0.502												
DNMT3A	1788	broad.mit.edu	37	2	25464521	25464521	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:25464521C>A	uc002rgc.2	-	17	2249	c.1992G>T	c.(1990-1992)GAG>GAT	p.E664D	DNMT3A_uc002rgd.2_Missense_Mutation_p.E664D|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.E475D	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	664					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCACACACCTCCGAGGCAA	0.597			Mis|F|N|S		AML							
EMILIN1	11117	broad.mit.edu	37	2	27305168	27305168	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:27305168G>A	uc002rii.3	+	4	1157	c.729G>A	c.(727-729)CAG>CAA	p.Q243Q	EMILIN1_uc010eyq.1_Silent_p.Q243Q|EMILIN1_uc002rik.3_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	243	Potential.				cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCAGCACCAGCTGCAGCTCC	0.647												
CAD	790	broad.mit.edu	37	2	27456970	27456970	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:27456970C>T	uc002rji.2	+	22	3656	c.3494C>T	c.(3493-3495)GCG>GTG	p.A1165V	CAD_uc010eyw.2_Missense_Mutation_p.A1102V	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	1165	CPSase B.|ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TCAGGTGATGCGACGCTGGTG	0.582												
EIF2B4	8890	broad.mit.edu	37	2	27587741	27587741	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:27587741G>A	uc002rkb.2	-	12	1359	c.1216C>T	c.(1216-1218)CAT>TAT	p.H406Y	EIF2B4_uc002rjz.2_Missense_Mutation_p.H426Y|EIF2B4_uc002rka.2_Missense_Mutation_p.H391Y|EIF2B4_uc002rkc.2_Missense_Mutation_p.H405Y|EIF2B4_uc002rkd.2_Missense_Mutation_p.H200Y|EIF2B4_uc002rke.2_Missense_Mutation_p.H375Y	NM_001034116	NP_001029288	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B,	406					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGAGTGCATGAGCTCCCAAT	0.488												
PPP1CB	5500	broad.mit.edu	37	2	29022154	29022154	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:29022154G>A	uc002rmg.2	+	9	1129	c.969G>A	c.(967-969)CCG>CCA	p.P323P	PPP1CB_uc010ymj.1_Silent_p.P295P|PPP1CB_uc010yml.1_Silent_p.P295P|PPP1CB_uc002rmh.2_Silent_p.P323P|SPDYA_uc002rmi.2_5'UTR	NM_206876	NP_996759	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta	323					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			skin(1)	1	Acute lymphoblastic leukemia(172;0.155)					CAGCTAATCCGCCGAAGAAAA	0.383												
NLRC4	58484	broad.mit.edu	37	2	32476488	32476488	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:32476488C>T	uc002roi.2	-	4	691	c.445G>A	c.(445-447)GTG>ATG	p.V149M	NLRC4_uc002roj.1_Missense_Mutation_p.V149M|NLRC4_uc010ezt.1_Intron	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN	caspase recruitment domain protein 12	149					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			ovary(3)|large_intestine(1)|lung(1)|skin(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AGCTGCTCCACGCGGTGATGG	0.502												
BIRC6	57448	broad.mit.edu	37	2	32824935	32824935	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:32824935C>T	uc010ezu.2	+	70	14094	c.13960C>T	c.(13960-13962)CGA>TGA	p.R4654*		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	4654	Ubiquitin-conjugating.				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)					TCATAGCGTGCGATTCAATCC	0.358												
LTBP1	4052	broad.mit.edu	37	2	33500077	33500077	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:33500077G>A	uc002ros.2	+	17	2792	c.2792G>A	c.(2791-2793)CGC>CAC	p.R931H	LTBP1_uc002rot.2_Missense_Mutation_p.R605H|LTBP1_uc002rou.2_Missense_Mutation_p.R604H|LTBP1_uc002rov.2_Missense_Mutation_p.R551H|LTBP1_uc010ymz.1_Missense_Mutation_p.R604H|LTBP1_uc010yna.1_Missense_Mutation_p.R551H	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	930	EGF-like 5; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TCCCAGGGCCGCTGTGAAAAC	0.428												
SULT6B1	391365	broad.mit.edu	37	2	37414569	37414569	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:37414569C>A	uc002rpu.2	-	2	148	c.127G>T	c.(127-129)GCT>TCT	p.A43S	SULT6B1_uc010yni.1_RNA	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member	81						cytoplasm	sulfotransferase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(82;0.248)				TTAGAAACAGCATATATTAAT	0.333												
KIAA1841	84542	broad.mit.edu	37	2	61319641	61319641	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:61319641C>T	uc002saw.3	+	11	1434	c.1131C>T	c.(1129-1131)TTC>TTT	p.F377F	KIAA1841_uc002sax.3_Silent_p.F231F|KIAA1841_uc002say.2_Silent_p.F377F	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	KIAA1841 protein isoform a	377											0			Epithelial(17;0.193)			ATAGTCTTTTCGAAGAATTAA	0.313												
USP34	9736	broad.mit.edu	37	2	61433932	61433932	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:61433932C>T	uc002sbe.2	-	71	9031	c.9009G>A	c.(9007-9009)TCG>TCA	p.S3003S	USP34_uc002sbd.2_5'Flank	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	3003					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			ACTTCAAAACCGAAAGAAATA	0.373												
OTX1	5013	broad.mit.edu	37	2	63282962	63282962	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:63282962G>A	uc002scd.2	+	5	824	c.576G>A	c.(574-576)TCG>TCA	p.S192S	OTX1_uc010ypt.1_Silent_p.S126S	NM_014562	NP_055377	P32242	OTX1_HUMAN	orthodenticle homeobox 1	192						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(2)	2	Lung NSC(7;0.121)|all_lung(7;0.211)					CGTCCGTGTCGGTGCCGGAGC	0.682												
ANTXR1	84168	broad.mit.edu	37	2	69271944	69271944	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:69271944A>G	uc002sfg.2	+	3	651	c.295A>G	c.(295-297)AGA>GGA	p.R99G	ANTXR1_uc002sfe.2_Missense_Mutation_p.R99G|ANTXR1_uc002sff.2_Missense_Mutation_p.R99G|ANTXR1_uc002sfd.2_Missense_Mutation_p.R99G	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1 isoform 1 precursor	99	Extracellular (Potential).|VWFA.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			ovary(2)|skin(2)	4						GACAGAAGACAGGTAAGGATA	0.428									Familial_Infantile_Hemangioma			
ADD2	119	broad.mit.edu	37	2	70905912	70905912	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:70905912G>A	uc002sgz.2	-	11	1772	c.1307C>T	c.(1306-1308)ACG>ATG	p.T436M	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Missense_Mutation_p.T436M|ADD2_uc002sha.2_Intron|ADD2_uc002sgx.2_Missense_Mutation_p.T436M|ADD2_uc010fdt.1_Missense_Mutation_p.T436M|ADD2_uc002shc.1_Missense_Mutation_p.T436M|ADD2_uc002shd.1_Intron|ADD2_uc010fdu.1_Missense_Mutation_p.T452M	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	436	Interaction with calmodulin (Potential).				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			ovary(2)|pancreas(1)	3						GGTGTTGGGCGTATTGAGCCA	0.647												
DYSF	8291	broad.mit.edu	37	2	71753393	71753393	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:71753393G>A	uc002sie.2	+	12	1473	c.1097G>A	c.(1096-1098)AGC>AAC	p.S366N	DYSF_uc010feg.2_Missense_Mutation_p.S397N|DYSF_uc010feh.2_Missense_Mutation_p.S366N|DYSF_uc002sig.3_Missense_Mutation_p.S366N|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.S366N|DYSF_uc010fef.2_Missense_Mutation_p.S397N|DYSF_uc010fei.2_Missense_Mutation_p.S397N|DYSF_uc010fek.2_Missense_Mutation_p.S398N|DYSF_uc010fej.2_Missense_Mutation_p.S367N|DYSF_uc010fel.2_Missense_Mutation_p.S367N|DYSF_uc010feo.2_Missense_Mutation_p.S398N|DYSF_uc010fem.2_Missense_Mutation_p.S367N|DYSF_uc010fen.2_Missense_Mutation_p.S398N|DYSF_uc002sif.2_Missense_Mutation_p.S367N	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	366	Cytoplasmic (Potential).|C2 3.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						GACATTGAAAGCAACCTGCTC	0.577												
SMYD5	10322	broad.mit.edu	37	2	73452826	73452826	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:73452826T>C	uc002siw.2	+	12	1132	c.1103T>C	c.(1102-1104)CTC>CCC	p.L368P	SMYD5_uc010yre.1_Missense_Mutation_p.L252P|SMYD5_uc002six.1_RNA	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	368							metal ion binding				0						CACAAGATCCTCAGGTGCCAG	0.602												
SMYD5	10322	broad.mit.edu	37	2	73453008	73453008	+	Silent	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:73453008A>G	uc002siw.2	+	13	1220	c.1191A>G	c.(1189-1191)GAA>GAG	p.E397E	SMYD5_uc010yre.1_Silent_p.E281E|SMYD5_uc002six.1_RNA	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	397	Glu-rich.						metal ion binding				0						aggaagaggaagaggaggagg	0.463												
ALMS1	7840	broad.mit.edu	37	2	73826620	73826620	+	Silent	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:73826620A>G	uc002sje.1	+	19	11754	c.11643A>G	c.(11641-11643)GTA>GTG	p.V3881V	ALMS1_uc002sjf.1_Silent_p.V3837V|ALMS1_uc002sjh.1_Silent_p.V3267V	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3879					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						AGCAGAATGTACACATGTTAA	0.279												
C2orf78	388960	broad.mit.edu	37	2	74043233	74043233	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:74043233T>C	uc002sjr.1	+	3	2004	c.1883T>C	c.(1882-1884)ATG>ACG	p.M628T		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	hypothetical protein LOC388960	628										ovary(2)	2						TCCCTAGGCATGCACATGCTA	0.463												
ACTG2	72	broad.mit.edu	37	2	74143792	74143792	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:74143792C>G	uc002sjw.2	+	8	1009	c.887C>G	c.(886-888)GCC>GGC	p.A296G	ACTG2_uc010fey.2_Missense_Mutation_p.A296G|ACTG2_uc010yrn.1_Missense_Mutation_p.A253G	NM_001615	NP_001606	P63267	ACTH_HUMAN	actin, gamma 2 propeptide	296					muscle contraction	cytoskeleton|cytosol	ATP binding				0						GACTTATATGCCAACAATGTC	0.507												
AUP1	550	broad.mit.edu	37	2	74755569	74755569	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:74755569T>C	uc010yrx.1	-	4	869	c.743A>G	c.(742-744)CAA>CGA	p.Q248R	DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_Missense_Mutation_p.Q191R|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_Missense_Mutation_p.Q100R|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank|HTRA2_uc010ffl.2_5'Flank			Q9Y679	AUP1_HUMAN	SubName: Full=cDNA FLJ57204, highly similar to Homo sapiens ancient ubiquitous protein 1 (AUP1), transcript variant 2, mRNA;	257	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding				0						TCTCTGAACTTGCAGGGTAAG	0.527												
CTNNA2	1496	broad.mit.edu	37	2	80646660	80646660	+	Missense_Mutation	SNP	C	C	A	rs148134866	by1000genomes	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:80646660C>A	uc010ysh.1	+	8	1229	c.1224C>A	c.(1222-1224)AGC>AGA	p.S408R	CTNNA2_uc010yse.1_Missense_Mutation_p.S408R|CTNNA2_uc010ysf.1_Missense_Mutation_p.S408R|CTNNA2_uc010ysg.1_Missense_Mutation_p.S408R|CTNNA2_uc010ysi.1_Missense_Mutation_p.S40R	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	408					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						CTGCAAAGAGCGGAAATGAAA	0.443												
SFTPB	6439	broad.mit.edu	37	2	85892493	85892493	+	Silent	SNP	G	G	A	rs45530632	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:85892493G>A	uc002sqh.2	-	6	597	c.591C>T	c.(589-591)TCC>TCT	p.S197S	SFTPB_uc002sqi.2_Silent_p.S209S|SFTPB_uc002sqj.2_Silent_p.S197S	NM_198843	NP_942140	P07988	PSPB_HUMAN	surfactant, pulmonary-associated protein B	197					organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				ovary(1)|central_nervous_system(1)	2						ATTGCTGCTCGGAGAGATCCT	0.592												
PTCD3	55037	broad.mit.edu	37	2	86352130	86352130	+	Silent	SNP	C	C	T	rs75290041		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:86352130C>T	uc002sqw.2	+	10	795	c.729C>T	c.(727-729)AAC>AAT	p.N243N	PTCD3_uc010ytc.1_RNA|PTCD3_uc002sqx.1_Translation_Start_Site	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3 precursor	243						mitochondrion	protein binding	p.N243N(1)		ovary(1)	1						CAAAAAACAACGCTGAGAGAA	0.284												
KDM3A	55818	broad.mit.edu	37	2	86677036	86677036	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:86677036A>G	uc002sri.3	+	3	620	c.293A>G	c.(292-294)GAA>GGA	p.E98G	KDM3A_uc010ytj.1_Missense_Mutation_p.E98G|KDM3A_uc010ytk.1_Intron	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	98					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						GTTTTAGCTGAACGAAAGTCA	0.393												
FAHD2B	151313	broad.mit.edu	37	2	97751910	97751910	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:97751910G>A	uc002sxm.2	-	4	639	c.488C>T	c.(487-489)GCC>GTC	p.A163V		NM_199336	NP_955368	Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing	163							hydrolase activity|metal ion binding				0						AATGACCACGGCCAGCTCCAC	0.587												
VWA3B	200403	broad.mit.edu	37	2	98804519	98804519	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:98804519G>A	uc002syo.2	+	10	1657	c.1393G>A	c.(1393-1395)GTC>ATC	p.V465I	VWA3B_uc010yvh.1_Missense_Mutation_p.V315I|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_Intron|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.2_Missense_Mutation_p.V465I|VWA3B_uc002syn.1_Intron|VWA3B_uc010yvi.1_Missense_Mutation_p.V122I	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	465										ovary(3)|large_intestine(2)|skin(1)	6						CTTGGTCCACGTCAACATTAC	0.488												
LONRF2	164832	broad.mit.edu	37	2	100916228	100916228	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:100916228G>A	uc002tal.3	-	5	1858	c.1218C>T	c.(1216-1218)GAC>GAT	p.D406D	LONRF2_uc010yvs.1_RNA	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger	406					proteolysis		ATP-dependent peptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2						CATCCTCCACGTCATCCGGAA	0.458												
C2orf29	55571	broad.mit.edu	37	2	101885796	101885796	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:101885796G>A	uc002taw.3	+	7	1536	c.1454G>A	c.(1453-1455)CGA>CAA	p.R485Q		NM_017546	NP_060016	Q9UKZ1	CB029_HUMAN	hypothetical protein LOC55571	485					cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						AGTAGGATACGAGAAGCTGCT	0.393												
EN1	2019	broad.mit.edu	37	2	119600627	119600627	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:119600627C>T	uc002tlm.2	-	2	2082	c.1066G>A	c.(1066-1068)GCC>ACC	p.A356T		NM_001426	NP_001417	Q05925	HME1_HUMAN	engrailed homeobox 1	356	Homeobox.				skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)	2						TTGATCTTGGCGCGCTTGTTC	0.597												
WDR33	55339	broad.mit.edu	37	2	128476878	128476878	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:128476878C>T	uc002tpg.1	-	16	2904	c.2721G>A	c.(2719-2721)ACG>ACA	p.T907T		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	907					postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTAGCAGAGGCGTTTTCTGTT	0.547												
WDR33	55339	broad.mit.edu	37	2	128476952	128476952	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:128476952G>A	uc002tpg.1	-	16	2830	c.2647C>T	c.(2647-2649)CCT>TCT	p.P883S		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	883					postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TGTCCCTGAGGTCCGGGGGGT	0.632												
FAM123C	205147	broad.mit.edu	37	2	131521965	131521965	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:131521965C>T	uc002trw.2	+	2	2510	c.2320C>T	c.(2320-2322)CCC>TCC	p.P774S	FAM123C_uc010fmv.2_Missense_Mutation_p.P774S|FAM123C_uc010fms.1_Missense_Mutation_p.P774S|FAM123C_uc010fmt.1_Missense_Mutation_p.P774S|FAM123C_uc010fmu.1_Missense_Mutation_p.P774S	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	774										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GGAGGACCAGCCCTTGCAGCT	0.677												
NCKAP5	344148	broad.mit.edu	37	2	133483297	133483297	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:133483297G>A	uc002ttp.2	-	19	5990	c.5616C>T	c.(5614-5616)AGC>AGT	p.S1872S	NCKAP5_uc002ttq.2_Silent_p.S553S	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1872							protein binding				0						TACTGCCACCGCTGGCAGAGT	0.458												
TMEM163	81615	broad.mit.edu	37	2	135215680	135215680	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:135215680C>T	uc002ttx.2	-	7	798	c.732G>A	c.(730-732)AAG>AAA	p.K244K	TMEM163_uc002tty.2_RNA	NM_030923	NP_112185	Q8TC26	TM163_HUMAN	transmembrane protein 163	244						integral to membrane					0				BRCA - Breast invasive adenocarcinoma(221;0.154)		CCGAGTCATGCTTGAACACTT	0.547												
LRP1B	53353	broad.mit.edu	37	2	141201956	141201956	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:141201956T>C	uc002tvj.1	-	65	11209	c.10237A>G	c.(10237-10239)AAC>GAC	p.N3413D		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3413	Extracellular (Potential).|LDL-receptor class A 23.				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)		CATCTTAAGTTTACTGGGATA	0.398										TSP Lung(27;0.18)		
LRP1B	53353	broad.mit.edu	37	2	141660492	141660492	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:141660492C>T	uc002tvj.1	-	23	4735	c.3763G>A	c.(3763-3765)GTT>ATT	p.V1255I	LRP1B_uc010fnl.1_Missense_Mutation_p.V437I	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1255	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)		TACTTACCAACACTTGTACAA	0.373										TSP Lung(27;0.18)		
CACNB4	785	broad.mit.edu	37	2	152739824	152739824	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:152739824G>A	uc002tya.2	-	3	276	c.208C>T	c.(208-210)CGG>TGG	p.R70W	CACNB4_uc002txy.2_Missense_Mutation_p.R36W|CACNB4_uc002txz.2_Missense_Mutation_p.R52W|CACNB4_uc010fnz.2_Missense_Mutation_p.R70W|CACNB4_uc002tyb.2_Missense_Mutation_p.R36W	NM_000726	NP_000717	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4	70					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	ATTGCTTCCCGGTCCTCTTCC	0.483												
TANC1	85461	broad.mit.edu	37	2	160025864	160025864	+	Silent	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:160025864T>C	uc002uag.2	+	9	1324	c.1050T>C	c.(1048-1050)GGT>GGC	p.G350G	TANC1_uc010fol.1_Silent_p.G244G|TANC1_uc010zcm.1_Splice_Site_p.A349_splice|TANC1_uc010fom.1_Silent_p.G156G	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	350						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						CGGCCGGAGGTAGGGCACAGG	0.438												
TBR1	10716	broad.mit.edu	37	2	162280585	162280585	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:162280585C>T	uc002ubw.1	+	6	2198	c.1896C>T	c.(1894-1896)TAC>TAT	p.Y632Y	TBR1_uc010foy.2_Silent_p.Y345Y	NM_006593	NP_006584	Q16650	TBR1_HUMAN	T-box, brain, 1	632						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						CGGGGATTTACGAGCAGGCCA	0.672												
LRP2	4036	broad.mit.edu	37	2	170042445	170042445	+	Missense_Mutation	SNP	C	C	A	rs35086590	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:170042445C>A	uc002ues.2	-	50	9626	c.9413G>T	c.(9412-9414)CGT>CTT	p.R3138L		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3138	EGF-like 11.|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)	GTAACCAGGACGACAGGAACA	0.433												
UBR3	130507	broad.mit.edu	37	2	170938287	170938287	+	Silent	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:170938287A>G	uc010zdi.1	+	39	5601	c.5601A>G	c.(5599-5601)CAA>CAG	p.Q1867Q	UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_Silent_p.Q688Q|UBR3_uc002uft.3_Silent_p.Q724Q|UBR3_uc010zdj.1_Silent_p.Q558Q|UBR3_uc002ufu.3_Silent_p.Q373Q	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	E3 ubiquitin-protein ligase UBR3	1867					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding				0						TTCTTGAGCAACAGTGGATTT	0.368												
GORASP2	26003	broad.mit.edu	37	2	171822463	171822463	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:171822463C>T	uc002ugk.2	+	10	1322	c.1182C>T	c.(1180-1182)CCC>CCT	p.P394P	GORASP2_uc002ugj.2_Silent_p.P326P|GORASP2_uc010zdl.1_Silent_p.P406P|GORASP2_uc010zdm.1_Silent_p.P350P|GORASP2_uc002ugl.2_Silent_p.P326P|GORASP2_uc002ugm.2_Silent_p.P176P	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2	394						Golgi membrane				breast(1)|central_nervous_system(1)	2						GCAACGCACCCTCCGACCCTG	0.622												
CDCA7	83879	broad.mit.edu	37	2	174229538	174229538	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:174229538C>T	uc002uid.1	+	5	609	c.478C>T	c.(478-480)CGA>TGA	p.R160*	CDCA7_uc002uic.1_Nonsense_Mutation_p.R239*|CDCA7_uc010zej.1_Nonsense_Mutation_p.R195*|CDCA7_uc010zek.1_Nonsense_Mutation_p.R118*	NM_145810	NP_665809	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7 isoform 2	160	Arg-rich.				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.116)			AAGGAGACCGCGAAGGCGTAC	0.493												
HOXD9	3235	broad.mit.edu	37	2	176987559	176987559	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:176987559C>T	uc010zex.1	+	1	147	c.63C>T	c.(61-63)TAC>TAT	p.Y21Y		NM_014213	NP_055028	P28356	HXD9_HUMAN	homeobox D9	21						nucleus	sequence-specific DNA binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GCAACTACTACGTGGACTCGC	0.687												
PDE11A	50940	broad.mit.edu	37	2	178740634	178740634	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:178740634T>C	uc002ulq.2	-	5	1637	c.1319A>G	c.(1318-1320)AAA>AGA	p.K440R	PDE11A_uc002ulp.2_5'UTR|PDE11A_uc002ulr.2_Missense_Mutation_p.K190R|PDE11A_uc002uls.1_Missense_Mutation_p.K82R|PDE11A_uc002ult.1_Missense_Mutation_p.K190R|PDE11A_uc002ulu.1_Missense_Mutation_p.K82R	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	440	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TTCAAAGGATTTGGTAAATTT	0.368									Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial			
TTN	7273	broad.mit.edu	37	2	179443547	179443547	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:179443547G>A	uc010zfg.1	-	269	60730	c.60506C>T	c.(60505-60507)GCG>GTG	p.A20169V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A13864V|TTN_uc010zfi.1_Missense_Mutation_p.A13797V|TTN_uc010zfj.1_Missense_Mutation_p.A13672V|uc002umv.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21096							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)			TGGATGTCTCGCAACAATTGG	0.398												
TTN	7273	broad.mit.edu	37	2	179474231	179474231	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:179474231G>A	uc010zfg.1	-	222	44326	c.44102C>T	c.(44101-44103)GCA>GTA	p.A14701V	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A8396V|TTN_uc010zfi.1_Missense_Mutation_p.A8329V|TTN_uc010zfj.1_Missense_Mutation_p.A8204V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15628							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)			AGAAATACTTGCATCAAGTGC	0.383												
TTN	7273	broad.mit.edu	37	2	179474816	179474816	+	Splice_Site	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:179474816C>T	uc010zfg.1	-	220	43956	c.43732_splice	c.e220+1	p.Q14578_splice	uc002ump.1_Intron|TTN_uc010zfh.1_Splice_Site_p.Q8273_splice|TTN_uc010zfi.1_Splice_Site_p.Q8206_splice|TTN_uc010zfj.1_Splice_Site_p.Q8081_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAAACTTACGCTTTGGATC	0.363												
TTN	7273	broad.mit.edu	37	2	179576715	179576715	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:179576715T>C	uc010zfg.1	-	93	24334	c.24110A>G	c.(24109-24111)AAC>AGC	p.N8037S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.N4698S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8964							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)			TCCCACGCTGTTTTCAGCTTT	0.338												
TTN	7273	broad.mit.edu	37	2	179580340	179580340	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:179580340C>T	uc010zfg.1	-	86	22293	c.22069G>A	c.(22069-22071)GTT>ATT	p.V7357I	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V4018I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8284							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)			ACCGAGTCAACGAATGACATT	0.463												
ITGA4	3676	broad.mit.edu	37	2	182323028	182323028	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:182323028C>T	uc002unu.2	+	2	1066	c.303C>T	c.(301-303)TGC>TGT	p.C101C	ITGA4_uc002unt.2_Silent_p.C101C|ITGA4_uc010zfl.1_Silent_p.C101C	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	101	Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GCCAGACGTGCGAACAGCTCC	0.587												
MYO1B	4430	broad.mit.edu	37	2	192141734	192141734	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:192141734G>A	uc010fsg.2	+	2	368	c.113G>A	c.(112-114)CGC>CAC	p.R38H	MYO1B_uc002usq.2_Missense_Mutation_p.R38H|MYO1B_uc002usr.2_Missense_Mutation_p.R38H|MYO1B_uc002uss.1_Missense_Mutation_p.R38H	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	myosin IB isoform 1	38	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			CTCAAGAAGCGCTTTGACCAC	0.413												
STK17B	9262	broad.mit.edu	37	2	197002360	197002360	+	Silent	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:197002360G>T	uc002utk.2	-	8	1254	c.930C>A	c.(928-930)TCC>TCA	p.S310S	STK17B_uc010fsh.2_Silent_p.S310S	NM_004226	NP_004217	O94768	ST17B_HUMAN	serine/threonine kinase 17B	310	Poly-Ser.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.141)			GAGTTTGAGAGGAACTGGAAG	0.418												
SGOL2	151246	broad.mit.edu	37	2	201437347	201437347	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:201437347G>T	uc002uvw.2	+	7	2391	c.2278G>T	c.(2278-2280)GAC>TAC	p.D760Y	SGOL2_uc010zhd.1_Missense_Mutation_p.D760Y|SGOL2_uc010zhe.1_Missense_Mutation_p.D760Y	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	shugoshin-like 2 isoform 1	760					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			ovary(2)|skin(2)	4						AAACCTAGAAGACCCAAGTGA	0.363												
CASP8	841	broad.mit.edu	37	2	202149917	202149917	+	Missense_Mutation	SNP	C	C	T	rs34208389		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:202149917C>T	uc002uxr.1	+	9	1390	c.1181C>T	c.(1180-1182)CCG>CTG	p.P394L	CASP8_uc002uxp.1_Missense_Mutation_p.P411L|CASP8_uc002uxq.1_Missense_Mutation_p.P379L|CASP8_uc002uxt.1_Missense_Mutation_p.P453L|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_Missense_Mutation_p.P379L|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Missense_Mutation_p.P310L	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	394					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						AGATATATCCCGGATGAGGCT	0.473										HNSCC(4;0.00038)		
SPAG16	79582	broad.mit.edu	37	2	214878701	214878701	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:214878701G>A	uc002veq.2	+	13	1519	c.1427G>A	c.(1426-1428)GGA>GAA	p.G476E	SPAG16_uc010fuz.1_Missense_Mutation_p.G327E|SPAG16_uc002ver.2_Missense_Mutation_p.G422E|SPAG16_uc010zjk.1_Missense_Mutation_p.G382E	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	476	WD 4.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		ACTTTGTATGGACATACAGAT	0.338												
ABCA12	26154	broad.mit.edu	37	2	215839522	215839522	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:215839522C>T	uc002vew.2	-	35	5668	c.5448G>A	c.(5446-5448)ATG>ATA	p.M1816I	ABCA12_uc002vev.2_Missense_Mutation_p.M1498I|ABCA12_uc010zjn.1_Missense_Mutation_p.M743I	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1816					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGTTCAGACACATGTTGTCAA	0.333												
MREG	55686	broad.mit.edu	37	2	216809613	216809613	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:216809613C>T	uc002vfo.2	-	5	914	c.618G>A	c.(616-618)CTG>CTA	p.L206L	MREG_uc002vfq.2_RNA	NM_018000	NP_060470	Q8N565	MREG_HUMAN	whn-dependent transcript 2	206						apical plasma membrane					0		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		GAAGGTAGTGCAGTTCTTTCT	0.493												
IGFBP5	3488	broad.mit.edu	37	2	217559282	217559282	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:217559282G>A	uc002vgj.3	-	1	991	c.217C>T	c.(217-219)CGC>TGC	p.R73C		NM_000599	NP_000590	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	73	IGFBP N-terminal.				negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding				0		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGGCGCAGCGCTCGGTGTAG	0.726												
RNF25	64320	broad.mit.edu	37	2	219532655	219532655	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:219532655T>C	uc002vit.2	-	5	425	c.337A>G	c.(337-339)ATG>GTG	p.M113V	RNF25_uc010fvw.2_Missense_Mutation_p.M1V	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	ring finger protein 25	113	RWD.				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCATACAGCATGGCAGTGCCC	0.517												
CDK5R2	8941	broad.mit.edu	37	2	219825311	219825311	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:219825311G>A	uc002vjf.2	+	1	914	c.769G>A	c.(769-771)GAG>AAG	p.E257K		NM_003936	NP_003927	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2	257					regulation of cyclin-dependent protein kinase activity	cyclin-dependent protein kinase 5 holoenzyme complex	cyclin-dependent protein kinase 5 activator activity			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCGGCCGCCGAGCTGCAGGC	0.642												
PTPRN	5798	broad.mit.edu	37	2	220164503	220164503	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:220164503A>G	uc002vkz.2	-	10	1531	c.1442T>C	c.(1441-1443)CTG>CCG	p.L481P	PTPRN_uc010zlc.1_Missense_Mutation_p.L391P|PTPRN_uc002vla.2_Intron	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	481	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)		AGCCAGGCTCAGGGGCCTGGA	0.577												
CHPF	79586	broad.mit.edu	37	2	220404955	220404955	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:220404955C>T	uc002vmc.3	-	4	1705	c.1478G>A	c.(1477-1479)CGC>CAC	p.R493H	CHPF_uc010zlh.1_Missense_Mutation_p.R331H	NM_024536	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	493	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding				0		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GATCTCCACGCGGCTCAGCGG	0.662												
SLC4A3	6508	broad.mit.edu	37	2	220494985	220494985	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:220494985T>G	uc002vmp.3	+	6	991	c.722T>G	c.(721-723)CTG>CGG	p.L241R	SLC4A3_uc002vmn.2_Missense_Mutation_p.L268R|SLC4A3_uc002vmo.3_Missense_Mutation_p.L268R|SLC4A3_uc010fwm.2_5'UTR|SLC4A3_uc010fwn.1_5'Flank	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	241	Cytoplasmic.				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		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)		GGCAGTGCCCTGGGCAACCCA	0.672												
SLC4A3	6508	broad.mit.edu	37	2	220501408	220501408	+	Nonsense_Mutation	SNP	C	C	T	rs150010736		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:220501408C>T	uc002vmp.3	+	16	2616	c.2347C>T	c.(2347-2349)CGA>TGA	p.R783*	SLC4A3_uc002vmo.3_Nonsense_Mutation_p.R810*|SLC4A3_uc010fwm.2_Nonsense_Mutation_p.R333*|SLC4A3_uc010fwn.1_Nonsense_Mutation_p.R292*	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	783	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		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)		CTAGTTCTGCCGAGCCCAGGA	0.637												
EPHA4	2043	broad.mit.edu	37	2	222308249	222308249	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:222308249C>T	uc002vmq.2	-	10	1894	c.1852G>A	c.(1852-1854)GCA>ACA	p.A618T	EPHA4_uc002vmr.2_Missense_Mutation_p.A618T|EPHA4_uc010zlm.1_Missense_Mutation_p.A559T|EPHA4_uc010zln.1_Missense_Mutation_p.A618T	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	618	Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ATGCAGGATGCGTCAATTTCT	0.403												
B3GNT7	93010	broad.mit.edu	37	2	232262945	232262945	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:232262945G>A	uc002vrs.2	+	2	695	c.515G>A	c.(514-516)CGC>CAC	p.R172H		NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal	172	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity				0		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GGCGCCGTGCGCACCCTCTTC	0.706												
TRPM8	79054	broad.mit.edu	37	2	234854587	234854587	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:234854587G>A	uc002vvh.2	+	7	827	c.787G>A	c.(787-789)GTG>ATG	p.V263M	TRPM8_uc010fyj.2_Translation_Start_Site	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel,	263	Cytoplasmic (Potential).					integral to membrane				skin(4)	4		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TTTGCTGCTCGTGGACAATGG	0.463												
RNPEPL1	57140	broad.mit.edu	37	2	241517269	241517269	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:241517269G>A	uc002vzi.2	+	11	2038	c.1445G>A	c.(1444-1446)AGC>AAC	p.S482N	RNPEPL1_uc010fzf.2_Missense_Mutation_p.S388N|RNPEPL1_uc002vzj.2_Missense_Mutation_p.S130N	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like	482					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		GAGGCCCCCAGCAGTGCCATC	0.642												
GPR35	2859	broad.mit.edu	37	2	241569626	241569626	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:241569626C>T	uc002vzs.1	+	1	832	c.257C>T	c.(256-258)ACG>ATG	p.T86M	GPR35_uc010fzh.1_Missense_Mutation_p.T117M|GPR35_uc010fzi.1_Missense_Mutation_p.T117M	NM_005301	NP_005292	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	86	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity			skin(2)|pancreas(1)	3		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		ACCTCAGACACGCCGCTGTGC	0.642												
RSPO4	343637	broad.mit.edu	37	20	947858	947858	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:947858G>A	uc002wej.2	-	3	465	c.368C>T	c.(367-369)CCG>CTG	p.P123L	RSPO4_uc002wek.2_Missense_Mutation_p.P123L	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN	R-spondin family, member 4 isoform 1 precursor	123	FU.				Wnt receptor signaling pathway	extracellular region	heparin binding				0						AGTGCCCGGCGGGCAGGTGGG	0.647												
SDCBP2	27111	broad.mit.edu	37	20	1294021	1294021	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:1294021C>T	uc002wev.3	-	5	476	c.347G>A	c.(346-348)CGC>CAC	p.R116H	SDCBP2_uc002weu.3_Missense_Mutation_p.R31H|SDCBP2_uc010zpq.1_Missense_Mutation_p.R116H	NM_080489	NP_536737	Q9H190	SDCB2_HUMAN	syndecan binding protein 2 isoform a	116	PDZ 1.				intracellular signal transduction|intracellular transport|nervous system development	cytoplasm	protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity			large_intestine(1)|skin(1)	2						GGTCTTGCCGCGCTCGTCCTT	0.711												
TMX4	56255	broad.mit.edu	37	20	7980484	7980484	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:7980484C>T	uc002wmx.1	-	4	495	c.362G>A	c.(361-363)CGT>CAT	p.R121H		NM_021156	NP_066979	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	121	Thioredoxin.				cell redox homeostasis|electron transport chain|transport	integral to membrane					0						GCCACGATAACGGCGGAATAT	0.383												
PLCB1	23236	broad.mit.edu	37	20	8608995	8608995	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:8608995C>T	uc002wnb.2	+	4	304	c.301C>T	c.(301-303)CGC>TGC	p.R101C	PLCB1_uc010zrb.1_5'UTR|PLCB1_uc010gbv.1_Missense_Mutation_p.R101C|PLCB1_uc002wmz.1_Missense_Mutation_p.R101C|PLCB1_uc002wna.2_Missense_Mutation_p.R101C|PLCB1_uc002wnc.1_5'UTR	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	101					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						CCTGGAGCAGCGCATGATCAC	0.458												
RRBP1	6238	broad.mit.edu	37	20	17610604	17610604	+	Missense_Mutation	SNP	C	C	T	rs138539631	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:17610604C>T	uc010gcm.1	-	4	429	c.71G>A	c.(70-72)CGT>CAT	p.R24H	RRBP1_uc002wpu.2_Silent_p.A212A|RRBP1_uc002wpv.1_Silent_p.A438A|RRBP1_uc002wpw.1_Silent_p.A438A|RRBP1_uc010gcl.1_Silent_p.A212A			Q9P2E9	RRBP1_HUMAN	Homo sapiens mRNA for KIAA1398 protein, partial cds.	Error:Variant_position_missing_in_Q9P2E9_after_alignment					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1						CCCTGTGGGACGCCTGGGGAC	0.687												
SEC23B	10483	broad.mit.edu	37	20	18511337	18511337	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:18511337A>T	uc002wqz.1	+	10	1566	c.1123A>T	c.(1123-1125)ATG>TTG	p.M375L	SEC23B_uc002wra.1_Missense_Mutation_p.M375L|SEC23B_uc002wrb.1_Missense_Mutation_p.M375L|SEC23B_uc010zsb.1_Missense_Mutation_p.M357L|SEC23B_uc002wrc.1_Missense_Mutation_p.M375L	NM_006363	NP_006354	Q15437	SC23B_HUMAN	Sec23 homolog B	375					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			ovary(1)	1						CTACATGGTAATGGGAGATTC	0.333												
PAX1	5075	broad.mit.edu	37	20	21687581	21687581	+	Silent	SNP	C	C	T	rs140128849		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:21687581C>T	uc002wsj.2	+	2	846	c.792C>T	c.(790-792)GGC>GGT	p.G264G	PAX1_uc010zsl.1_Silent_p.G264G|PAX1_uc010zsm.1_Silent_p.G240G	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	264					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2						CGCCCACGGGCGCCAAGATGG	0.692												
TPX2	22974	broad.mit.edu	37	20	30381814	30381814	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:30381814T>C	uc002wwp.1	+	14	2371	c.1673T>C	c.(1672-1674)CTG>CCG	p.L558P	TPX2_uc010gdv.1_Missense_Mutation_p.L594P	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated protein homolog	558					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			large_intestine(1)|ovary(1)	2			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ATAAAAGAACTGCAGAAAGGG	0.358												
MAP1LC3A	84557	broad.mit.edu	37	20	33147545	33147545	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:33147545G>A	uc002xaq.1	+	4	363	c.209G>A	c.(208-210)CGC>CAC	p.R70H	MAP1LC3A_uc002xap.1_Missense_Mutation_p.R74H	NM_032514	NP_115903	Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3	70					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding				0						TGCAGGCGCCGCCTGCAGCTG	0.627												
MMP24	10893	broad.mit.edu	37	20	33862135	33862135	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:33862135T>C	uc002xbu.2	+	9	1664	c.1661T>C	c.(1660-1662)GTG>GCG	p.V554A	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	matrix metalloproteinase 24 preproprotein	554	Extracellular (Potential).|Hemopexin-like 4.				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(18;0.00252)			AAACTGAGCGTGGAGCCAGGC	0.587												
GDF5	8200	broad.mit.edu	37	20	34022366	34022366	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:34022366C>T	uc002xck.1	-	2	1166	c.847G>A	c.(847-849)GTG>ATG	p.V283M	GDF5_uc010gfc.1_Missense_Mutation_p.V283M|uc002xcj.2_Silent_p.H259H|GDF5_uc010zvc.1_Missense_Mutation_p.V283M	NM_000557	NP_000548	P43026	GDF5_HUMAN	growth differentiation factor 5 preproprotein	283					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity				0	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			AGGCCTGGCACGGAGCGCACA	0.687												
C20orf118	140711	broad.mit.edu	37	20	35507503	35507503	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:35507503G>A	uc002xgg.1	+	3	257	c.249G>A	c.(247-249)ACG>ACA	p.T83T		NM_080628	NP_542195	A0PJX2	CT118_HUMAN	hypothetical protein LOC140711	83	TLD.										0		Myeloproliferative disorder(115;0.00874)				TCTTCTGCACGTCAAGGGACG	0.632												
TGM2	7052	broad.mit.edu	37	20	36760853	36760853	+	Silent	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:36760853A>G	uc002xhr.2	-	11	1765	c.1665T>C	c.(1663-1665)CTT>CTC	p.L555L	TGM2_uc002xhq.2_Silent_p.L156L|TGM2_uc010zvx.1_Silent_p.L474L|TGM2_uc010zvy.1_Silent_p.L495L|TGM2_uc002xhs.1_Silent_p.L531L	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	555					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	TGGACTCCGTAAGGCAGTCAC	0.542												
PTPRT	11122	broad.mit.edu	37	20	41101154	41101154	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:41101154C>T	uc002xkg.2	-	8	1386	c.1202G>A	c.(1201-1203)CGG>CAG	p.R401Q	PTPRT_uc010ggj.2_Missense_Mutation_p.R401Q	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	401	Extracellular (Potential).|Fibronectin type-III 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGTCAGCTGCCGGGCTCTGAT	0.567												
SFRS6	6431	broad.mit.edu	37	20	42088725	42088725	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:42088725G>A	uc010zwg.1	+	4	604	c.434G>A	c.(433-435)CGA>CAA	p.R145Q	SFRS6_uc002xki.2_Missense_Mutation_p.R16Q|SFRS6_uc002xkk.2_Missense_Mutation_p.R145Q	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	arginine/serine-rich splicing factor 6	145	RRM 2.		R -> Q (in a colorectal cancer sample; somatic mutation).		mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	p.R145Q(1)			0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CACAAGGAACGAACAAATGAG	0.413												
HNF4A	3172	broad.mit.edu	37	20	43058237	43058237	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:43058237G>A	uc002xma.2	+	10	1446	c.1357G>A	c.(1357-1359)GTC>ATC	p.V453I	HNF4A_uc002xlu.2_Missense_Mutation_p.V421I|HNF4A_uc002xlv.2_Missense_Mutation_p.V431I|HNF4A_uc002xlz.2_Missense_Mutation_p.V443I|HNF4A_uc010ggq.2_Missense_Mutation_p.V446I	NM_000457	NP_000448	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4 alpha isoform b	453			V -> I.		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)			GCCGGGAGCCGTCGCCACAAT	0.637												
ZMYND8	23613	broad.mit.edu	37	20	45867695	45867695	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:45867695C>T	uc002xta.1	-	15	2666	c.2412G>A	c.(2410-2412)CCG>CCA	p.P804P	ZMYND8_uc010ghq.1_Silent_p.P481P|ZMYND8_uc010ghr.1_Silent_p.P779P|ZMYND8_uc002xst.1_Silent_p.P732P|ZMYND8_uc002xsu.1_Intron|ZMYND8_uc002xsv.1_Silent_p.P732P|ZMYND8_uc002xsw.1_Silent_p.P556P|ZMYND8_uc002xsx.1_Silent_p.P556P|ZMYND8_uc002xsy.1_Silent_p.P779P|ZMYND8_uc002xsz.1_Silent_p.P741P|ZMYND8_uc010zxy.1_Silent_p.P831P|ZMYND8_uc002xtb.1_Silent_p.P824P|ZMYND8_uc002xss.2_Silent_p.P804P|ZMYND8_uc010zxz.1_Intron|ZMYND8_uc002xtc.1_Silent_p.P824P|ZMYND8_uc002xtd.1_Silent_p.P799P|ZMYND8_uc002xte.1_Silent_p.P804P|ZMYND8_uc010zya.1_Silent_p.P804P|ZMYND8_uc002xtf.1_Silent_p.P824P|ZMYND8_uc002xtg.2_Silent_p.P798P|ZMYND8_uc010ghs.1_Silent_p.P798P|ZMYND8_uc002xsr.1_5'UTR	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	804							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCGGTAAAAGCGGCCTCTGCT	0.627												
PREX1	57580	broad.mit.edu	37	20	47270000	47270000	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:47270000G>A	uc002xtw.1	-	20	2268	c.2245C>T	c.(2245-2247)CAG>TAG	p.Q749*	PREX1_uc002xtv.1_Nonsense_Mutation_p.Q46*	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	749					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AGAATGCACTGACCAGCACAG	0.597												
STAU1	6780	broad.mit.edu	37	20	47739654	47739654	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:47739654G>A	uc002xud.2	-	8	1352	c.941C>T	c.(940-942)CCG>CTG	p.P314L	STAU1_uc002xua.2_Missense_Mutation_p.P233L|STAU1_uc002xub.2_Missense_Mutation_p.P239L|STAU1_uc002xuc.2_Missense_Mutation_p.P233L|STAU1_uc002xue.2_Missense_Mutation_p.P233L|STAU1_uc002xuf.2_Missense_Mutation_p.P239L|STAU1_uc002xug.2_Missense_Mutation_p.P314L	NM_017453	NP_059347	O95793	STAU1_HUMAN	staufen isoform b	314	DRBM 3.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			ovary(4)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			CCTGCGGCGCGGGAGGCCTCG	0.617												
KCNB1	3745	broad.mit.edu	37	20	47990503	47990503	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:47990503T>C	uc002xur.1	-	2	1758	c.1594A>G	c.(1594-1596)ATG>GTG	p.M532V	KCNB1_uc002xus.1_Missense_Mutation_p.M532V	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related	532	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTATTGTACATGTCTTCCAAC	0.468												
ATP9A	10079	broad.mit.edu	37	20	50244187	50244187	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:50244187G>A	uc002xwg.1	-	17	1797	c.1797C>T	c.(1795-1797)CTC>CTT	p.L599L	ATP9A_uc010gih.1_Silent_p.L463L|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	599	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4						TTGCCACCACGAGCACCCGCA	0.433												
DOK5	55816	broad.mit.edu	37	20	53226972	53226972	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:53226972C>T	uc002xwy.2	+	6	865	c.645C>T	c.(643-645)GAC>GAT	p.D215D	DOK5_uc010gin.2_Silent_p.D107D|DOK5_uc002xwz.2_Silent_p.D77D	NM_018431	NP_060901	Q9P104	DOK5_HUMAN	docking protein 5	215	IRS-type PTB.						insulin receptor binding			ovary(1)	1			Colorectal(105;0.202)			AGACCCGAGACGGGGAGGCCA	0.493												
CASS4	57091	broad.mit.edu	37	20	55012542	55012542	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:55012542C>T	uc002xxp.2	+	3	584	c.359C>T	c.(358-360)GCG>GTG	p.A120V	CASS4_uc002xxq.3_Missense_Mutation_p.A120V|CASS4_uc002xxr.2_Missense_Mutation_p.A120V|CASS4_uc010zze.1_Intron|CASS4_uc010gio.2_Missense_Mutation_p.A120V	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN	HEF-like protein isoform a	120					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)|skin(1)	3						AGGAGTTGGGCGGAGGGGCCC	0.587												
CTCFL	140690	broad.mit.edu	37	20	56094287	56094287	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:56094287G>A	uc010gix.1	-	3	1563	c.901C>T	c.(901-903)CGG>TGG	p.R301W	CTCFL_uc010giw.1_Missense_Mutation_p.R301W|CTCFL_uc002xym.2_Missense_Mutation_p.R301W|CTCFL_uc010giz.1_5'UTR|CTCFL_uc010giy.1_5'UTR|CTCFL_uc010gja.1_Missense_Mutation_p.R301W|CTCFL_uc010gjb.1_Missense_Mutation_p.R301W|CTCFL_uc010gjc.1_Missense_Mutation_p.R301W|CTCFL_uc010gjd.1_Missense_Mutation_p.R301W|CTCFL_uc010gje.2_Missense_Mutation_p.R301W|CTCFL_uc010gjf.2_Missense_Mutation_p.R96W|CTCFL_uc010gjg.2_Missense_Mutation_p.R33W|CTCFL_uc010gjh.1_Missense_Mutation_p.R301W|CTCFL_uc010gji.1_Missense_Mutation_p.R96W|CTCFL_uc010gjj.1_Missense_Mutation_p.R301W|CTCFL_uc010gjk.1_Missense_Mutation_p.R301W|CTCFL_uc010gjl.1_Missense_Mutation_p.R301W	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	301	C2H2-type 2.				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)			ACATGGTTCCGCAGCAGAGTG	0.453												
LSM14B	149986	broad.mit.edu	37	20	60701385	60701385	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:60701385C>T	uc010gjy.1	+	3	523	c.317C>T	c.(316-318)TCG>TTG	p.S106L	LSM14B_uc002ybt.2_Missense_Mutation_p.S106L|LSM14B_uc010gjx.1_Missense_Mutation_p.S132L|LSM14B_uc002ybv.2_Missense_Mutation_p.S106L|LSM14B_uc010gjz.1_5'UTR|LSM14B_uc010zzz.1_5'UTR	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	LSM14 homolog B	106					multicellular organismal development|regulation of translation	ribonucleoprotein complex					0	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			GCCTCCGCCTCGCCCTTCCAG	0.662												
LAMA5	3911	broad.mit.edu	37	20	60908501	60908501	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:60908501C>T	uc002ycq.2	-	25	3125	c.3058G>A	c.(3058-3060)GCG>ACG	p.A1020T		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	1020	Domain IV 1 (domain IV B).				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)	AGGAGCGCCGCCTCGTAGTAT	0.687												
RTEL1	51750	broad.mit.edu	37	20	62321132	62321132	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:62321132G>A	uc002yfu.1	+	24	2398	c.2055G>A	c.(2053-2055)CAG>CAA	p.Q685Q	RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Silent_p.Q685Q|RTEL1_uc011abd.1_Silent_p.Q709Q|RTEL1_uc011abe.1_Silent_p.Q462Q|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_5'UTR	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	685					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)			GGTACCGGCAGCAGGCGTCCA	0.697												
TPD52L2	7165	broad.mit.edu	37	20	62520579	62520579	+	Silent	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:62520579T>C	uc002yhc.2	+	6	642	c.513T>C	c.(511-513)GTT>GTC	p.V171V	TPD52L2_uc002ygy.2_Silent_p.V194V|TPD52L2_uc002ygz.2_Silent_p.V185V|TPD52L2_uc002yha.2_Silent_p.V174V|TPD52L2_uc002yhb.2_Silent_p.V165V|TPD52L2_uc002yhd.2_Silent_p.V151V|TPD52L2_uc011abk.1_Silent_p.V122V|TPD52L2_uc011abl.1_Silent_p.V128V|TPD52L2_uc002yhe.2_Silent_p.V70V	NM_003288	NP_003279	O43399	TPD54_HUMAN	tumor protein D52-like 2 isoform e	171					regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity			ovary(1)|skin(1)	2	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					AGGACCGAGTTGGGACCATAA	0.438												
NPBWR2	2832	broad.mit.edu	37	20	62737475	62737475	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:62737475C>T	uc011abt.1	-	1	710	c.710G>A	c.(709-711)CGC>CAC	p.R237H		NM_005286	NP_005277	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	237	Cytoplasmic (Potential).					plasma membrane	opioid receptor activity|protein binding			large_intestine(1)	1	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CCGCAGCCTGCGCAGGAGGTC	0.667												
MYT1	4661	broad.mit.edu	37	20	62836917	62836917	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:62836917G>A	uc002yii.2	+	6	525	c.161G>A	c.(160-162)TGC>TAC	p.C54Y	MYT1_uc002yih.2_Missense_Mutation_p.C54Y|MYT1_uc002yij.2_5'Flank	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	54	C2HC-type 1.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTACAGAGCTGCCCCCTGGCC	0.642												
BACH1	571	broad.mit.edu	37	21	30698948	30698948	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr21:30698948C>T	uc002ynj.2	+	3	918	c.803C>T	c.(802-804)CCG>CTG	p.P268L	BACH1_uc002ynk.2_Missense_Mutation_p.P268L|BACH1_uc002ynl.2_RNA	NM_001186	NP_001177	O14867	BACH1_HUMAN	BTB and CNC homology 1 transcription factor	268						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|liver(1)	2						GGAGGAGTCCCGGAGTGTAGA	0.443												
HUNK	30811	broad.mit.edu	37	21	33246192	33246192	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr21:33246192G>T	uc002yph.2	+	1	565	c.205G>T	c.(205-207)GGC>TGC	p.G69C		NM_014586	NP_055401	P57058	HUNK_HUMAN	hormonally upregulated Neu-associated kinase	69	ATP (By similarity).|Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			stomach(1)|skin(1)	2						CAGGAAGCTGGGCGAGGGCTC	0.711												
PCP4	5121	broad.mit.edu	37	21	41270416	41270416	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr21:41270416G>A	uc002yyp.2	+	2	106	c.25G>A	c.(25-27)GCA>ACA	p.A9T		NM_006198	NP_006189	P48539	PCP4_HUMAN	Purkinje cell protein 4	9				A -> P (in Ref. 1; CAA63724).	central nervous system development	cytosol|nucleus				large_intestine(1)	1		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				AGGTGCTGGGGCAACCAATGG	0.393												
DSCAM	1826	broad.mit.edu	37	21	41516548	41516548	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr21:41516548G>A	uc002yyq.1	-	17	3581	c.3129C>T	c.(3127-3129)AGC>AGT	p.S1043S	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1043	Fibronectin type-III 2.|Extracellular (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CACTGTCCCCGCTGGTGTCGA	0.522												
FAM3B	54097	broad.mit.edu	37	21	42718974	42718974	+	Silent	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr21:42718974T>C	uc002yzb.1	+	6	578	c.432T>C	c.(430-432)AGT>AGC	p.S144S	FAM3B_uc002yza.2_RNA|FAM3B_uc002yzc.1_Silent_p.S96S|FAM3B_uc002yzd.1_Silent_p.S167S	NM_058186	NP_478066	P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	144					apoptosis|insulin secretion	extracellular space	cytokine activity				0		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				TTATTCAGAGTGCTGCTCCAA	0.517												
PDE9A	5152	broad.mit.edu	37	21	44182210	44182210	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr21:44182210G>A	uc002zbm.2	+	14	1166	c.1103G>A	c.(1102-1104)CGC>CAC	p.R368H	PDE9A_uc002zbn.2_Missense_Mutation_p.R241H|PDE9A_uc002zbo.2_Missense_Mutation_p.R315H|PDE9A_uc002zbp.2_Missense_Mutation_p.R161H|PDE9A_uc002zbq.2_Missense_Mutation_p.R266H|PDE9A_uc002zbs.2_Missense_Mutation_p.R161H|PDE9A_uc002zbr.2_Missense_Mutation_p.R161H|PDE9A_uc002zbt.2_Missense_Mutation_p.R240H|PDE9A_uc002zbu.2_Missense_Mutation_p.R234H|PDE9A_uc002zbv.2_Missense_Mutation_p.R208H|PDE9A_uc002zbw.2_Missense_Mutation_p.R151H|PDE9A_uc002zbx.2_Missense_Mutation_p.R308H|PDE9A_uc002zby.2_Missense_Mutation_p.R151H|PDE9A_uc002zbz.2_Missense_Mutation_p.R260H|PDE9A_uc002zca.2_Missense_Mutation_p.R327H|PDE9A_uc002zcb.2_Missense_Mutation_p.R342H|PDE9A_uc002zcc.2_Missense_Mutation_p.R267H|PDE9A_uc002zcd.2_Missense_Mutation_p.R282H|PDE9A_uc002zce.2_Missense_Mutation_p.R301H|PDE9A_uc002zcf.2_Missense_Mutation_p.R161H|PDE9A_uc002zcg.2_Missense_Mutation_p.R161H|PDE9A_uc002zch.2_Missense_Mutation_p.R151H|PDE9A_uc010gpf.1_Missense_Mutation_p.R161H	NM_002606	NP_002597	O76083	PDE9A_HUMAN	phosphodiesterase 9A isoform a	368	Catalytic (By similarity).				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|skin(1)	2						ATCAATGCCCGCACAGAGCTG	0.617												
PKNOX1	5316	broad.mit.edu	37	21	44438317	44438317	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr21:44438317A>T	uc002zcq.1	+	7	885	c.697A>T	c.(697-699)ACA>TCA	p.T233S	PKNOX1_uc002zcp.1_Missense_Mutation_p.T233S|PKNOX1_uc011aex.1_Missense_Mutation_p.T116S	NM_004571	NP_004562	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	233							sequence-specific DNA binding			large_intestine(2)	2						GTCGCCTGGGACAATTAGGAT	0.542												
MICAL3	57553	broad.mit.edu	37	22	18301213	18301213	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:18301213C>T	uc002zng.3	-	26	4567	c.4214G>A	c.(4213-4215)CGG>CAG	p.R1405Q	MICAL3_uc011agl.1_Missense_Mutation_p.R1321Q|MICAL3_uc010gre.1_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	1405	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		GGACGGGGACCGGGGGGTTGG	0.667												
TSSK2	23617	broad.mit.edu	37	22	19119120	19119120	+	Missense_Mutation	SNP	G	G	A	rs141724999		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:19119120G>A	uc002zow.2	+	1	800	c.208G>A	c.(208-210)GGC>AGC	p.G70S	DGCR14_uc002zot.2_3'UTR|DGCR14_uc002zou.2_3'UTR|DGCR14_uc002zov.2_RNA	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	70	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)	1	Colorectal(54;0.0993)					TGTCAACCACGGCTCCATCAT	0.512												
HIRA	7290	broad.mit.edu	37	22	19396104	19396104	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:19396104C>A	uc002zpf.1	-	3	333	c.113G>T	c.(112-114)GGG>GTG	p.G38V	HIRA_uc011agx.1_5'UTR|HIRA_uc010grn.1_Missense_Mutation_p.G38V|HIRA_uc010gro.1_5'UTR|HIRA_uc010grp.2_RNA	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	38	WD 1.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Colorectal(54;0.0993)					CACAACCTTCCCAGAATCCTG	0.408												
UFD1L	7353	broad.mit.edu	37	22	19463058	19463058	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:19463058C>T	uc002zpm.2	-	2	201	c.71G>A	c.(70-72)CGC>CAC	p.R24H	UFD1L_uc002zpo.2_Missense_Mutation_p.R24H|UFD1L_uc011agy.1_Missense_Mutation_p.R24H|UFD1L_uc002zpp.2_5'UTR|UFD1L_uc010grq.2_5'UTR	NM_005659	NP_005650	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1-like isoform A	24					skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity				0	Colorectal(54;0.0993)					AGAGAAGCAGCGGTACTGTGT	0.438												
TRMT2A	27037	broad.mit.edu	37	22	20103586	20103586	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:20103586C>T	uc002zrk.1	-	3	789	c.574G>A	c.(574-576)GAG>AAG	p.E192K	TRMT2A_uc002zrl.1_Missense_Mutation_p.E192K|TRMT2A_uc002zrm.1_Silent_p.A12A|TRMT2A_uc002zrn.1_Missense_Mutation_p.E192K|TRMT2A_uc011ahk.1_Missense_Mutation_p.E192K|RANBP1_uc011ahl.1_5'Flank|RANBP1_uc002zro.1_5'Flank|RANBP1_uc002zrp.2_5'Flank	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN	HpaII tiny fragments locus 9C	192	Potential.				RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(1)	1						AGCACCTGCTCGCACTCCAGC	0.627												
AIFM3	150209	broad.mit.edu	37	22	21330537	21330537	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:21330537G>A	uc002ztj.2	+	10	1059	c.841G>A	c.(841-843)GTG>ATG	p.V281M	AIFM3_uc002ztk.2_Missense_Mutation_p.V281M|AIFM3_uc002ztl.2_Missense_Mutation_p.V287M|AIFM3_uc011ahx.1_Missense_Mutation_p.V269M|AIFM3_uc002ztm.1_Missense_Mutation_p.V93M	NM_144704	NP_653305	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor,	281					activation of caspase activity by cytochrome c|cell redox homeostasis|electron transport chain|induction of apoptosis|mitochondrial depolarization|transport	endoplasmic reticulum|mitochondrial inner membrane	2 iron, 2 sulfur cluster binding|caspase activator activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity|protein binding			ovary(2)|lung(2)	4	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TAAGAAGGTCGTGTTCAAGGA	0.612												
P2RX6	9127	broad.mit.edu	37	22	21377631	21377631	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:21377631C>A	uc010gsu.1	+	7	706	c.706C>A	c.(706-708)CCC>ACC	p.P236T	P2RX6_uc002ztz.2_Missense_Mutation_p.P210T|P2RX6_uc002zua.2_RNA|P2RX6_uc002zuc.1_RNA	NM_005446	NP_005437	O15547	P2RX6_HUMAN	purinergic receptor P2X6 isoform 1	236	Extracellular (Potential).				muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity				0						ACAATTCAGCCCCTACTGTCC	0.597												
MAPK1	5594	broad.mit.edu	37	22	22153338	22153338	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:22153338C>T	uc002zvn.2	-	4	812	c.572G>A	c.(571-573)CGT>CAT	p.R191H	MAPK1_uc002zvo.2_Missense_Mutation_p.R191H|MAPK1_uc010gtk.1_Missense_Mutation_p.R191H	NM_002745	NP_002736	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	191	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	CCTGTACCAACGTGTGGCCAC	0.428												
MYO18B	84700	broad.mit.edu	37	22	26423348	26423348	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:26423348C>T	uc003abz.1	+	43	7658	c.7408C>T	c.(7408-7410)CGT>TGT	p.R2470C	MYO18B_uc003aca.1_Missense_Mutation_p.R2351C|MYO18B_uc010guy.1_Missense_Mutation_p.R2352C|MYO18B_uc010guz.1_Missense_Mutation_p.R2350C|MYO18B_uc011aka.1_Missense_Mutation_p.R1624C|MYO18B_uc011akb.1_Missense_Mutation_p.R1983C|MYO18B_uc010gva.1_Missense_Mutation_p.R453C|MYO18B_uc010gvb.1_RNA	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2470						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						CGGTTCACAGCGTTCAAGCAT	0.552												
SEZ6L	23544	broad.mit.edu	37	22	26761352	26761352	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:26761352G>A	uc003acb.2	+	13	2770	c.2614G>A	c.(2614-2616)GCA>ACA	p.A872T	SEZ6L_uc003acc.2_Missense_Mutation_p.A872T|SEZ6L_uc011akc.1_Missense_Mutation_p.A872T|SEZ6L_uc003acd.2_Missense_Mutation_p.A808T|SEZ6L_uc011akd.1_Missense_Mutation_p.A872T|SEZ6L_uc003ace.2_Intron|SEZ6L_uc003acf.1_Missense_Mutation_p.A645T|SEZ6L_uc010gvc.1_Intron|SEZ6L_uc011ake.1_RNA	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	872	Sushi 5.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane				ovary(4)|central_nervous_system(1)|pancreas(1)	6						GGAGTCCCTGGCATGTGACAA	0.522												
SEC14L3	266629	broad.mit.edu	37	22	30856091	30856091	+	Missense_Mutation	SNP	C	C	T	rs142573310	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:30856091C>T	uc003ahy.2	-	12	1209	c.1120G>A	c.(1120-1122)GCC>ACC	p.A374T	SEC14L3_uc003ahz.2_Missense_Mutation_p.A297T|SEC14L3_uc003aia.2_Missense_Mutation_p.A315T|SEC14L3_uc003aib.2_Missense_Mutation_p.A315T	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	SEC14-like 3	374	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			ovary(3)|pancreas(1)|skin(1)	5					Vitamin E(DB00163)	ACCTTCTTGGCGTGGACAAAG	0.527												
SEC14L4	284904	broad.mit.edu	37	22	30887696	30887696	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:30887696G>A	uc003aid.2	-	11	1045	c.945C>T	c.(943-945)GGC>GGT	p.G315G	SEC14L4_uc011akz.1_Silent_p.G315G|SEC14L4_uc003aie.2_Silent_p.G300G|SEC14L4_uc003aif.2_Silent_p.G261G	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	SEC14p-like protein TAP3 isoform a	315	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			skin(1)	1					Vitamin E(DB00163)	AAACCCCAAAGCCGATGTCCC	0.622												
OSBP2	23762	broad.mit.edu	37	22	31301891	31301891	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:31301891G>A	uc003aiy.1	+	13	2547	c.2443G>A	c.(2443-2445)GTA>ATA	p.V815I	OSBP2_uc011ala.1_Missense_Mutation_p.V649I|OSBP2_uc010gwc.1_Missense_Mutation_p.V642I|OSBP2_uc011alb.1_Missense_Mutation_p.V766I|OSBP2_uc003aiz.1_Missense_Mutation_p.V814I|OSBP2_uc003aja.1_Missense_Mutation_p.V448I|OSBP2_uc011alc.1_Missense_Mutation_p.V557I|OSBP2_uc003ajb.2_Missense_Mutation_p.V360I|OSBP2_uc011ald.1_Missense_Mutation_p.V359I|OSBP2_uc010gwd.1_Missense_Mutation_p.R298H	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2 isoform a	815					lipid transport	membrane	lipid binding			breast(1)|skin(1)	2						CGAGGAGGGCGTAGCGCCAAC	0.552												
MCM5	4174	broad.mit.edu	37	22	35817310	35817310	+	Splice_Site	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:35817310G>T	uc003anu.3	+	15	1927	c.1833_splice	c.e15-1	p.R611_splice	MCM5_uc010gwr.2_Splice_Site_p.R420_splice|MCM5_uc003anv.3_Splice_Site_p.R568_splice|MCM5_uc003anw.1_Splice_Site_p.R395_splice	NM_006739	NP_006730	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5						cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)	1						TGCCCCCACAGGCAGCTGGAG	0.632												
ELFN2	114794	broad.mit.edu	37	22	37769658	37769658	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:37769658G>A	uc003asq.3	-	3	2703	c.1917C>T	c.(1915-1917)AGC>AGT	p.S639S		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	639	Cytoplasmic (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					AGACCTTGGCGCTCTTGATGG	0.652												
GGA1	26088	broad.mit.edu	37	22	38019393	38019393	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:38019393C>T	uc003atc.2	+	8	1034	c.669C>T	c.(667-669)AAC>AAT	p.N223N	GGA1_uc003atd.2_Silent_p.N223N|GGA1_uc003ate.2_Silent_p.N223N|GGA1_uc003atf.2_Silent_p.N150N	NM_013365	NP_037497	Q9UJY5	GGA1_HUMAN	golgi associated, gamma adaptin ear containing,	223	Interaction with ARF3.|GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|ovary(1)	3	Melanoma(58;0.0574)					AGGTGAACAACAATGTGAAAC	0.602											OREG0026543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PLA2G6	8398	broad.mit.edu	37	22	38528987	38528987	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:38528987C>T	uc003auy.1	-	7	1064	c.928G>A	c.(928-930)GTG>ATG	p.V310M	PLA2G6_uc003auz.1_Missense_Mutation_p.V310M|PLA2G6_uc003ava.1_Missense_Mutation_p.V310M|PLA2G6_uc003avb.2_Missense_Mutation_p.V310M|PLA2G6_uc010gxk.1_RNA|PLA2G6_uc011ano.1_Missense_Mutation_p.V275M	NM_003560	NP_003551	O60733	PA2G6_HUMAN	phospholipase A2, group VI isoform a	310	ANK 5.		V -> E (in NBIA2A).		cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				ovary(1)	1	Melanoma(58;0.045)				Quinacrine(DB01103)	GTGCTGTTCACGTTGCAGCCC	0.677												
ST13	6767	broad.mit.edu	37	22	41226918	41226918	+	Missense_Mutation	SNP	G	G	A	rs36082289		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:41226918G>A	uc003aze.2	-	9	867	c.724C>T	c.(724-726)CGT>TGT	p.R242C	ST13_uc011aow.1_Missense_Mutation_p.R232C	NM_003932	NP_003923	P50502	F10A1_HUMAN	heat shock 70kD protein binding protein	242							protein binding, bridging				0						CGCTCTTCACGTTTTCGCTCA	0.413												
SCUBE1	80274	broad.mit.edu	37	22	43735243	43735243	+	Splice_Site	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:43735243T>C	uc003bdt.1	-	2	177	c.89_splice	c.e2-1	p.G30_splice	SCUBE1_uc003bdu.1_Splice_Site_p.G30_splice	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1						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)				CGACTGACCCTGTGGGTAGGG	0.592												
MPPED1	758	broad.mit.edu	37	22	43898596	43898596	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:43898596G>A	uc011apv.1	+	6	1044	c.821G>A	c.(820-822)CGC>CAC	p.R274H	MPPED1_uc011apw.1_Missense_Mutation_p.R168H|MPPED1_uc011apx.1_Missense_Mutation_p.R116H|MPPED1_uc011apy.1_Missense_Mutation_p.R274H|MPPED1_uc011apz.1_Missense_Mutation_p.R307H	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	274							hydrolase activity				0		all_neural(38;0.0244)|Ovarian(80;0.0694)				GTGCAGAGGCGCGTCCAGCCG	0.622												
EFCAB6	64800	broad.mit.edu	37	22	44031067	44031067	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:44031067G>A	uc003bdy.1	-	18	2228	c.2013C>T	c.(2011-2013)GAC>GAT	p.D671D	EFCAB6_uc003bdz.1_Silent_p.D519D|EFCAB6_uc010gzi.1_Silent_p.D519D|EFCAB6_uc010gzj.1_Intron|EFCAB6_uc010gzk.1_Intron	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	671					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				ACTGATCATCGTCCATGGGCA	0.542												
CELSR1	9620	broad.mit.edu	37	22	46792559	46792559	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:46792559G>A	uc003bhw.1	-	13	5786	c.5786C>T	c.(5785-5787)CCG>CTG	p.P1929L	CELSR1_uc011arc.1_Missense_Mutation_p.P250L	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1929	Extracellular (Potential).|EGF-like 6; calcium-binding.				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)		GTAGCCCTGCGGGGAGCCGGG	0.622												
FAM19A5	25817	broad.mit.edu	37	22	49103656	49103656	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:49103656G>A	uc003bim.3	+	3	507	c.390G>A	c.(388-390)ACG>ACA	p.T130T	FAM19A5_uc003bio.3_Silent_p.T123T	NM_001082967	NP_001076436	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine	130						extracellular region|integral to membrane				large_intestine(1)	1		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		AGACCACCACGGTATGTGGCC	0.662												
BRD1	23774	broad.mit.edu	37	22	50191612	50191612	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:50191612C>T	uc003biv.2	-	5	2426	c.1939G>A	c.(1939-1941)GTG>ATG	p.V647M	BRD1_uc011arf.1_Missense_Mutation_p.V242M|BRD1_uc011arg.1_Missense_Mutation_p.V696M|BRD1_uc011arh.1_Missense_Mutation_p.V647M|BRD1_uc003biu.3_Missense_Mutation_p.V647M	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	647	Bromo.				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTATAGAACACGGTGTCCCTG	0.532												
CRELD2	79174	broad.mit.edu	37	22	50316958	50316958	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:50316958G>A	uc003bja.2	+	7	900	c.765G>A	c.(763-765)ACG>ACA	p.T255T	CRELD2_uc003biz.3_Silent_p.T255T|CRELD2_uc010haj.2_Silent_p.T255T|CRELD2_uc010hal.2_Silent_p.T304T|CRELD2_uc010hak.2_Intron|CRELD2_uc010ham.2_Silent_p.T255T	NM_024324	NP_077300	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2 isoform b	255	FU 2.					endoplasmic reticulum|extracellular region	calcium ion binding				0		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		GCTCCTACACGTGCGAAGGTG	0.617												
TUBGCP6	85378	broad.mit.edu	37	22	50658984	50658984	+	Silent	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:50658984G>T	uc003bkb.1	-	16	4316	c.3804C>A	c.(3802-3804)ACC>ACA	p.T1268T	TUBGCP6_uc003bka.1_Silent_p.T355T|TUBGCP6_uc010har.1_Silent_p.T1260T|TUBGCP6_uc010has.1_RNA	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1268	9 X 27 AA tandem repeats.|9.				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)		TGGGTACATGGGTGTTCCACC	0.652												
CNTN6	27255	broad.mit.edu	37	3	1424848	1424848	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:1424848T>C	uc003boz.2	+	18	2656	c.2389T>C	c.(2389-2391)TCT>CCT	p.S797P	CNTN6_uc011asj.1_Missense_Mutation_p.S725P|CNTN6_uc003bpa.2_Missense_Mutation_p.S797P	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	797					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CATTGTCTACTCTGGGGAAGA	0.418												
CNTN4	152330	broad.mit.edu	37	3	3081856	3081856	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:3081856G>A	uc003bpc.2	+	19	2520	c.2299G>A	c.(2299-2301)GTG>ATG	p.V767M	CNTN4_uc003bpb.1_Missense_Mutation_p.V438M|CNTN4_uc003bpe.2_Missense_Mutation_p.V439M|CNTN4_uc003bpf.2_Missense_Mutation_p.V438M|CNTN4_uc003bpg.2_Missense_Mutation_p.V23M	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	767	Fibronectin type-III 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GAATGAGAGCGTGCACCCCTT	0.517												
IL5RA	3568	broad.mit.edu	37	3	3143376	3143376	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:3143376C>A	uc011ask.1	-	6	1011	c.367G>T	c.(367-369)GGG>TGG	p.G123W	IL5RA_uc010hbq.2_Missense_Mutation_p.G123W|IL5RA_uc010hbr.2_Nonsense_Mutation_p.G123*|IL5RA_uc010hbs.2_Missense_Mutation_p.G123W|IL5RA_uc011asl.1_Missense_Mutation_p.G123W|IL5RA_uc011asm.1_Missense_Mutation_p.G123W|IL5RA_uc010hbt.2_Missense_Mutation_p.G123W|IL5RA_uc011asn.1_Missense_Mutation_p.G123W|IL5RA_uc010hbu.2_Missense_Mutation_p.G123W	NM_000564	NP_000555	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha isoform 1	123	Extracellular (Potential).				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			ovary(1)	1				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CCTGCTTTACCTGGTGGGGCA	0.468												
OXTR	5021	broad.mit.edu	37	3	8809756	8809756	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:8809756G>A	uc003brc.2	-	3	740	c.118C>T	c.(118-120)CGC>TGC	p.R40C		NM_000916	NP_000907	P30559	OXYR_HUMAN	oxytocin receptor	40	Helical; Name=1; (Potential).				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity				0				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	ACCTCCACGCGCGCCAGGGCC	0.647												
ATG7	10533	broad.mit.edu	37	3	11372885	11372885	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:11372885C>T	uc003bwc.2	+	8	867	c.750C>T	c.(748-750)GTC>GTT	p.V250V	ATG7_uc003bwd.2_Silent_p.V250V|ATG7_uc011aum.1_Silent_p.V211V	NM_006395	NP_006386	O95352	ATG7_HUMAN	APG7 autophagy 7-like isoform a	250					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)	1						ATTTTTTGGTCCTAGCAGCCC	0.398												
FBLN2	2199	broad.mit.edu	37	3	13679178	13679178	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:13679178G>A	uc011avb.1	+	17	3439	c.3314G>A	c.(3313-3315)CGC>CAC	p.R1105H	FBLN2_uc011auz.1_Missense_Mutation_p.R1131H|FBLN2_uc011ava.1_Missense_Mutation_p.R1152H|FBLN2_uc011avc.1_Missense_Mutation_p.R1152H	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	1105	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CATATCTTCCGCATTGGCCCC	0.617												
RFTN1	23180	broad.mit.edu	37	3	16358500	16358500	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:16358500G>A	uc003cay.2	-	10	1854	c.1572C>T	c.(1570-1572)GGC>GGT	p.G524G	RFTN1_uc010hes.2_Silent_p.G488G|OXNAD1_uc003cax.2_Intron|OXNAD1_uc011awb.1_Intron	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	raft-linking protein	524						plasma membrane				ovary(3)|central_nervous_system(1)	4						CACACAGCAGGCCACCAGGGG	0.617												
THRB	7068	broad.mit.edu	37	3	24185082	24185082	+	Silent	SNP	G	G	A	rs143993214		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:24185082G>A	uc003ccx.3	-	8	997	c.648C>T	c.(646-648)GAC>GAT	p.D216D	THRB_uc010hfe.2_Silent_p.D216D|THRB_uc003ccy.3_Silent_p.D216D|THRB_uc003ccz.3_Silent_p.D211D	NM_001128176	NP_001121648	P10828	THB_HUMAN	thyroid hormone receptor, beta	216					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			skin(2)|pancreas(1)	3					Levothyroxine(DB00451)|Liothyronine(DB00279)	CCCATTCCTCGTCTGTGGGCT	0.567												
NEK10	152110	broad.mit.edu	37	3	27326330	27326330	+	Splice_Site	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:27326330C>T	uc003cdt.1	-	22	2185	c.1911_splice	c.e22+1	p.Q637_splice	NEK10_uc003cds.1_Splice_Site_p.Q34_splice	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10 isoform 3								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						TAAAAGCATACCTGTATAAAT	0.368												
EOMES	8320	broad.mit.edu	37	3	27758906	27758906	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:27758906C>A	uc003cdx.2	-	6	1716	c.1716G>T	c.(1714-1716)ATG>ATT	p.M572I	EOMES_uc003cdy.3_Missense_Mutation_p.M591I|EOMES_uc010hfn.2_3'UTR|EOMES_uc011axc.1_Missense_Mutation_p.M296I	NM_005442	NP_005433	O95936	EOMES_HUMAN	eomesodermin	572	Required for transcription activation (By similarity).				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|breast(1)	4						CCCACCCTGCCATTGCAGGAA	0.517												
TRIM71	131405	broad.mit.edu	37	3	32859669	32859669	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:32859669T>C	uc003cff.2	+	1	160	c.97T>C	c.(97-99)TCG>CCG	p.S33P		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	33	RING-type.|Ser-rich.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						GTCCGCGTCGTCGTCCTCCTC	0.502												
CRTAP	10491	broad.mit.edu	37	3	33165922	33165922	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:33165922G>A	uc003cfl.3	+	3	764	c.644G>A	c.(643-645)CGG>CAG	p.R215Q	CRTAP_uc010hfz.2_Missense_Mutation_p.R215Q|CRTAP_uc003cfm.2_Missense_Mutation_p.R36Q|CRTAP_uc003cfn.2_Missense_Mutation_p.R36Q	NM_006371	NP_006362	O75718	CRTAP_HUMAN	cartilage associated protein precursor	215						proteinaceous extracellular matrix	binding				0						CGAGCAGTGCGGGCATACAAC	0.537												
ACVR2B	93	broad.mit.edu	37	3	38524744	38524744	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:38524744G>A	uc003cif.2	+	11	1484	c.1460G>A	c.(1459-1461)GGC>GAC	p.G487D	ACVR2B_uc003cig.2_Missense_Mutation_p.G278D	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	activin A receptor, type IIB precursor	487	Cytoplasmic (Potential).				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		TCGGTCAACGGCACTACCTCG	0.587												
SCN5A	6331	broad.mit.edu	37	3	38592438	38592438	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:38592438T>C	uc003cio.2	-	28	5619	c.5425A>G	c.(5425-5427)ATT>GTT	p.I1809V	SCN5A_uc003cin.2_Missense_Mutation_p.I1808V|SCN5A_uc003cil.3_Missense_Mutation_p.I1809V|SCN5A_uc010hhi.2_Missense_Mutation_p.I1791V|SCN5A_uc010hhk.2_Missense_Mutation_p.I1776V|SCN5A_uc011ayr.1_Missense_Mutation_p.I1755V	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1809					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GAATACTCAATAAACTGAGTG	0.542												
SCN10A	6336	broad.mit.edu	37	3	38739967	38739967	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:38739967G>A	uc003ciq.2	-	27	4744	c.4744C>T	c.(4744-4746)CGC>TGC	p.R1582C		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1582	IV.|Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTGAGGATGCGGCCAATTCGG	0.517												
XIRP1	165904	broad.mit.edu	37	3	39228640	39228640	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:39228640C>T	uc003cjk.1	-	2	2518	c.2297G>A	c.(2296-2298)AGC>AAC	p.S766N	XIRP1_uc003cji.2_Missense_Mutation_p.S766N|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	766							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AGTCTCCTGGCTCTCTTGCAT	0.637												
SEC22C	9117	broad.mit.edu	37	3	42605070	42605070	+	Silent	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:42605070G>T	uc003clj.2	-	3	409	c.291C>A	c.(289-291)TCC>TCA	p.S97S	SEC22C_uc003clh.2_Silent_p.S97S|SEC22C_uc011azo.1_Silent_p.S27S|SEC22C_uc010hic.2_Silent_p.S97S|SEC22C_uc003cli.2_Silent_p.S97S	NM_032970	NP_116752	Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C	97	Longin.|Cytoplasmic (Potential).				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.222)		TAGTGTCATAGGAAGCTGTGA	0.507												
ZNF445	353274	broad.mit.edu	37	3	44488178	44488178	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:44488178G>T	uc003cnf.2	-	8	3333	c.2985C>A	c.(2983-2985)AGC>AGA	p.S995R	ZNF445_uc011azv.1_Missense_Mutation_p.S983R|ZNF445_uc011azw.1_Missense_Mutation_p.S995R	NM_181489	NP_852466	P59923	ZN445_HUMAN	zinc finger protein 445	995	C2H2-type 13.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		ATCTCTTGTGGCTAATGAGTT	0.458												
ZNF35	7584	broad.mit.edu	37	3	44700211	44700211	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:44700211T>C	uc003cnq.2	+	4	577	c.356T>C	c.(355-357)CTA>CCA	p.L119P	ZNF35_uc003cnr.2_5'UTR	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	119	Globular domain.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		ACCAAGAACCTACAGTTACTG	0.388												
CLEC3B	7123	broad.mit.edu	37	3	45077254	45077254	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:45077254C>T	uc003cok.3	+	3	543	c.447C>T	c.(445-447)GGC>GGT	p.G149G	CLEC3B_uc003col.2_Silent_p.G107G	NM_003278	NP_003269	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	149	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACATGACCGGCGCCCGCATCG	0.667												
LTF	4057	broad.mit.edu	37	3	46487972	46487972	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:46487972C>A	uc003cpq.2	-	11	1354	c.1316G>T	c.(1315-1317)AGC>ATC	p.S439I	LTF_uc003fzr.2_Missense_Mutation_p.S395I|LTF_uc010hjh.2_Missense_Mutation_p.S437I|LTF_uc003cpr.2_Missense_Mutation_p.S426I	NM_002343	NP_002334	P02788	TRFL_HUMAN	lactotransferrin precursor	439	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			central_nervous_system(2)|ovary(1)|lung(1)	4				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	AGGGTCACTGCTTTGTTGGGA	0.423												
COL7A1	1294	broad.mit.edu	37	3	48611124	48611124	+	Missense_Mutation	SNP	G	G	A	rs140543032		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:48611124G>A	uc003ctz.2	-	81	6573	c.6572C>T	c.(6571-6573)CCG>CTG	p.P2191L		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2191	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTCACTCACCGGGGCACCAGG	0.592												
CELSR3	1951	broad.mit.edu	37	3	48692475	48692475	+	Splice_Site	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:48692475A>G	uc003cul.2	-	6	5269	c.4988_splice	c.e6+1	p.K1663_splice	CELSR3_uc003cuf.1_Splice_Site_p.K1733_splice|CELSR3_uc010hkg.2_5'Flank	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3						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)		CAGGGGCCTCACTTCTTGGAG	0.567												
CELSR3	1951	broad.mit.edu	37	3	48699498	48699498	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:48699498G>A	uc003cul.2	-	1	851	c.570C>T	c.(568-570)AAC>AAT	p.N190N	CELSR3_uc003cuf.1_Silent_p.N260N	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	190	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTGTCCCAGCGTTCCGCTGGG	0.652												
LAMB2	3913	broad.mit.edu	37	3	49161199	49161199	+	Silent	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:49161199G>T	uc003cwe.2	-	24	4058	c.3759C>A	c.(3757-3759)GCC>GCA	p.A1253A	USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	1253	Domain II.|Potential.				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)		GTGCAGTGGAGGCGGCTGAGG	0.622												
RNF123	63891	broad.mit.edu	37	3	49742418	49742418	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:49742418G>A	uc003cxh.2	+	23	2047	c.1961G>A	c.(1960-1962)CGC>CAC	p.R654H	RNF123_uc010hky.1_Missense_Mutation_p.R316H|RNF123_uc003cxi.2_RNA	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	654						cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TCACTGCAGCGCCCCATGCAG	0.677												
MST1R	4486	broad.mit.edu	37	3	49940481	49940481	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:49940481C>T	uc003cxy.3	-	1	826	c.562G>A	c.(562-564)GTG>ATG	p.V188M	MST1R_uc011bdd.1_Missense_Mutation_p.V188M|MST1R_uc011bde.1_Missense_Mutation_p.V188M|MST1R_uc011bdf.1_Missense_Mutation_p.V188M|MST1R_uc011bdg.1_Missense_Mutation_p.V188M	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	188	Extracellular (Potential).|Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGCTCAACCACAGTTACACGG	0.627												
VPRBP	9730	broad.mit.edu	37	3	51455629	51455629	+	Silent	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:51455629A>G	uc003dbe.1	-	16	3627	c.3459T>C	c.(3457-3459)TCT>TCC	p.S1153S	VPRBP_uc003dbf.1_Silent_p.S429S	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	HIV-1 Vpr binding protein	1153	WD 2.|WD repeat-like region.				interspecies interaction between organisms	cytoplasm|nucleus	protein binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TCCAAGTAGCAGATGTCAGCA	0.423												
VPRBP	9730	broad.mit.edu	37	3	51464938	51464938	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:51464938A>G	uc003dbe.1	-	12	1900	c.1732T>C	c.(1732-1734)TAT>CAT	p.Y578H		NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	HIV-1 Vpr binding protein	578					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		GCTGGGCCATATTCTATCAAA	0.353												
DNAH1	25981	broad.mit.edu	37	3	52423487	52423487	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:52423487G>A	uc011bef.1	+	60	9767	c.9506G>A	c.(9505-9507)CGC>CAC	p.R3169H	DNAH1_uc003ddv.2_Missense_Mutation_p.R27H	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3234					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGCCAGTACCGCACGGTGCTC	0.552												
APPL1	26060	broad.mit.edu	37	3	57283464	57283464	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:57283464C>T	uc003dio.2	+	11	1087	c.940C>T	c.(940-942)CGT>TGT	p.R314C	APPL1_uc010hnb.2_Missense_Mutation_p.R314C|APPL1_uc011bey.1_Missense_Mutation_p.R297C	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH	314	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)		GAGTCAGGCCCGTGGGGATGT	0.468												
PTPRG	5793	broad.mit.edu	37	3	62153736	62153736	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:62153736G>A	uc003dlb.2	+	8	1651	c.932G>A	c.(931-933)CGT>CAT	p.R311H	PTPRG_uc003dlc.2_Missense_Mutation_p.R311H	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	311	Extracellular (Potential).|Alpha-carbonic anhydrase.				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)		CCACAGCAGCGTCTGCATGAC	0.507												
PRICKLE2	166336	broad.mit.edu	37	3	64133071	64133071	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:64133071C>T	uc003dmf.2	-	7	1681	c.1095G>A	c.(1093-1095)CTG>CTA	p.L365L		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	365						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)		CGTCGGCTGACAGCCGGTTAG	0.612												
MAGI1	9223	broad.mit.edu	37	3	65416494	65416494	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:65416494G>A	uc003dmn.2	-	11	1952	c.1426C>T	c.(1426-1428)CGG>TGG	p.R476W	MAGI1_uc003dmm.2_Missense_Mutation_p.R476W|MAGI1_uc003dmo.2_Missense_Mutation_p.R476W|MAGI1_uc003dmp.2_Missense_Mutation_p.R476W|MAGI1_uc010hny.2_Missense_Mutation_p.R361W	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	476	PDZ 2.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTGCTTTTCCGCAGCTTTGTG	0.463												
KBTBD8	84541	broad.mit.edu	37	3	67058751	67058751	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:67058751G>A	uc003dmy.2	+	4	1801	c.1748G>A	c.(1747-1749)CGG>CAG	p.R583Q	KBTBD8_uc011bfv.1_Missense_Mutation_p.R141Q	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	T-cell activation kelch repeat protein	583	Kelch 5.									ovary(2)|large_intestine(1)|breast(1)	4		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GACCTTGGCCGGCATTTTGAA	0.443												
ROBO2	6092	broad.mit.edu	37	3	77607139	77607139	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:77607139A>G	uc003dpy.3	+	9	1919	c.1276A>G	c.(1276-1278)AAC>GAC	p.N426D	ROBO2_uc003dpz.2_Missense_Mutation_p.N430D|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.N430D	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	426	Ig-like C2-type 5.|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)		AGGCCCAGCCAACCAAACGCT	0.418												
ARL13B	200894	broad.mit.edu	37	3	93755588	93755588	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:93755588C>T	uc003drc.2	+	5	965	c.679C>T	c.(679-681)CGA>TGA	p.R227*	ARL13B_uc010hop.2_Nonsense_Mutation_p.R78*|ARL13B_uc003drd.2_Nonsense_Mutation_p.R120*|ARL13B_uc003dre.2_Nonsense_Mutation_p.R212*|ARL13B_uc003drf.2_Nonsense_Mutation_p.R227*|ARL13B_uc003drg.2_Nonsense_Mutation_p.R124*	NM_182896	NP_878899	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 2-like 1 isoform 1	227	Potential.						GTP binding				0						GCGAAAATTACGAGAAGAAAG	0.358												
ARHGAP31	57514	broad.mit.edu	37	3	119134094	119134094	+	Silent	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:119134094C>A	uc003ecj.3	+	12	3850	c.3318C>A	c.(3316-3318)TCC>TCA	p.S1106S		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	1106					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						GGCCTTCTTCCCTCAACTTGG	0.547												
GTF2E1	2960	broad.mit.edu	37	3	120500198	120500198	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:120500198C>T	uc003edz.3	+	5	1315	c.1201C>T	c.(1201-1203)CGT>TGT	p.R401C		NM_005513	NP_005504	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1,	401					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.159)		GGTGGCTGGCCGTCCGTTCTC	0.517												
GOLGB1	2804	broad.mit.edu	37	3	121415620	121415620	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:121415620G>A	uc003eei.3	-	13	3861	c.3735C>T	c.(3733-3735)GAC>GAT	p.D1245D	GOLGB1_uc010hrc.2_Silent_p.D1250D|GOLGB1_uc003eej.3_Silent_p.D1211D|GOLGB1_uc011bjm.1_Silent_p.D1131D|GOLGB1_uc010hrd.1_Silent_p.D1209D	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	1245	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		GGAGTTTTCCGTCTATGGATT	0.438												
GOLGB1	2804	broad.mit.edu	37	3	121416977	121416977	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:121416977A>G	uc003eei.3	-	13	2504	c.2378T>C	c.(2377-2379)CTG>CCG	p.L793P	GOLGB1_uc010hrc.2_Missense_Mutation_p.L798P|GOLGB1_uc003eej.3_Missense_Mutation_p.L759P|GOLGB1_uc011bjm.1_Missense_Mutation_p.L679P|GOLGB1_uc010hrd.1_Missense_Mutation_p.L757P	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	793	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		TTCAGTGAGCAGGTTGTCATG	0.408												
SEMA5B	54437	broad.mit.edu	37	3	122632777	122632777	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:122632777C>T	uc003efz.1	-	15	2364	c.2060G>A	c.(2059-2061)CGC>CAC	p.R687H	SEMA5B_uc011bju.1_Missense_Mutation_p.R629H|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.R687H|SEMA5B_uc010hro.1_Missense_Mutation_p.R629H|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	687	Extracellular (Potential).|TSP type-1 1.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		ACTTCGCTGGCGGACCTGGAA	0.677												
KALRN	8997	broad.mit.edu	37	3	123987730	123987730	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:123987730C>T	uc003ehg.2	+	5	718	c.591C>T	c.(589-591)GCC>GCT	p.A197A	KALRN_uc010hrv.1_Silent_p.A197A|KALRN_uc003ehf.1_Silent_p.A197A|KALRN_uc011bjy.1_Silent_p.A197A	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	197	Spectrin 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						TCAACAGCGCCGTGCACCTGC	0.607												
ATP2C1	27032	broad.mit.edu	37	3	130682921	130682921	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:130682921C>T	uc003enl.2	+	13	1228	c.1006C>T	c.(1006-1008)CCT>TCT	p.P336S	ATP2C1_uc011blg.1_Missense_Mutation_p.P370S|ATP2C1_uc011blh.1_Missense_Mutation_p.P331S|ATP2C1_uc011bli.1_Missense_Mutation_p.P370S|ATP2C1_uc003enk.2_Missense_Mutation_p.P320S|ATP2C1_uc003enm.2_Missense_Mutation_p.P336S|ATP2C1_uc003enn.2_Missense_Mutation_p.P320S|ATP2C1_uc003eno.2_Missense_Mutation_p.P336S|ATP2C1_uc003enp.2_Missense_Mutation_p.P336S|ATP2C1_uc003enq.2_Missense_Mutation_p.P336S|ATP2C1_uc003enr.2_Missense_Mutation_p.P336S|ATP2C1_uc003ens.2_Missense_Mutation_p.P336S|ATP2C1_uc003ent.2_Missense_Mutation_p.P336S|ATP2C1_uc003enu.2_Missense_Mutation_p.P14S	NM_014382	NP_055197	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1a	336	Cytoplasmic (By similarity).				actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	GAAAAAGCTGCCTATTGTTGA	0.408									Hailey-Hailey_disease			
NPHP3	27031	broad.mit.edu	37	3	132403629	132403629	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:132403629G>A	uc003epe.1	-	24	3416	c.3339C>T	c.(3337-3339)GAC>GAT	p.D1113D	NPHP3_uc003eoz.1_5'UTR|NPHP3_uc003epd.1_Silent_p.D355D	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	1113	TPR 7.				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						TCAGAAACTGGTCAGCTGTTC	0.428												
TF	7018	broad.mit.edu	37	3	133476768	133476768	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:133476768C>T	uc003epu.1	+	13	2754	c.1026C>T	c.(1024-1026)ATC>ATT	p.I342I	TF_uc011blt.1_Silent_p.I215I|TF_uc003epw.1_Intron|TF_uc003epv.1_Silent_p.I342I	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	342	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			ovary(1)|skin(1)	2					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TCACTGCCATCCGGAATCTAC	0.532												
PPP2R3A	5523	broad.mit.edu	37	3	135721723	135721723	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:135721723C>T	uc003eqv.1	+	2	1948	c.1383C>T	c.(1381-1383)TGC>TGT	p.C461C	PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	461					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						TTAAAAAATGCCCCACCCCAA	0.328												
PCCB	5096	broad.mit.edu	37	3	136048788	136048788	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:136048788C>T	uc003eqy.1	+	15	1591	c.1540C>T	c.(1540-1542)CGA>TGA	p.R514*	PCCB_uc003eqz.1_Nonsense_Mutation_p.R514*|PCCB_uc011bmc.1_Nonsense_Mutation_p.R534*	NM_000532	NP_000523	P05166	PCCB_HUMAN	propionyl Coenzyme A carboxylase, beta	514	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity				0					Biotin(DB00121)|L-Valine(DB00161)	CACACGTGCCCGAATCTGCTG	0.468												
FOXL2	668	broad.mit.edu	37	3	138665438	138665438	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:138665438C>T	uc003esw.2	-	1	545	c.127G>A	c.(127-129)GGG>AGG	p.G43R	uc003esv.1_5'Flank|C3orf72_uc003esx.1_5'Flank|C3orf72_uc011bmr.1_5'Flank	NM_023067	NP_075555	P58012	FOXL2_HUMAN	forkhead box L2	43	Poly-Gly.				convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor 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|ubiquitin conjugating enzyme binding			ovary(266)|large_intestine(1)|skin(1)	268						GGGGCTGTCCCGCCGCCACCC	0.741			Mis		granulosa-cell tumour of the ovary		Blepharophimosis|ptosis and epicanthus inversus Types I|II; Premature ovarian failure type III					
COPB2	9276	broad.mit.edu	37	3	139077618	139077618	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:139077618C>A	uc003etf.3	-	20	2651	c.2521G>T	c.(2521-2523)GAC>TAC	p.D841Y	COPB2_uc011bmv.1_Missense_Mutation_p.D812Y|COPB2_uc010hui.2_Missense_Mutation_p.D812Y	NM_004766	NP_004757	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta	841					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(2)	2						GGCTGAAAGTCTTTTCCCTCT	0.333												
COPB2	9276	broad.mit.edu	37	3	139093415	139093415	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:139093415G>A	uc003etf.3	-	7	797	c.667C>T	c.(667-669)CAG>TAG	p.Q223*	COPB2_uc011bmv.1_Nonsense_Mutation_p.Q194*|COPB2_uc010hui.2_Nonsense_Mutation_p.Q194*|COPB2_uc011bmw.1_Nonsense_Mutation_p.Q223*	NM_004766	NP_004757	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta	223	WD 5.				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(2)	2						TCCAGTGTCTGCACACATGTT	0.378												
XRN1	54464	broad.mit.edu	37	3	142051258	142051258	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:142051258T>C	uc003eus.2	-	36	4245	c.4178A>G	c.(4177-4179)GAA>GGA	p.E1393G	XRN1_uc010huu.2_Missense_Mutation_p.E860G|XRN1_uc003eut.2_Missense_Mutation_p.E1393G|XRN1_uc003euu.2_Missense_Mutation_p.E1394G	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	1393					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3						TAATCCATATTCATCTCTTCT	0.289												
XRN1	54464	broad.mit.edu	37	3	142137373	142137373	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:142137373G>A	uc003eus.2	-	12	1386	c.1319C>T	c.(1318-1320)ACG>ATG	p.T440M	XRN1_uc003eut.2_Missense_Mutation_p.T440M|XRN1_uc003euu.2_Missense_Mutation_p.T440M|XRN1_uc003euv.1_Missense_Mutation_p.T301M|XRN1_uc003euw.2_Missense_Mutation_p.T440M|XRN1_uc011bnh.1_Missense_Mutation_p.T230M	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	440					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3						CCCCATCTTCGTCATGTAATA	0.299												
ATR	545	broad.mit.edu	37	3	142272237	142272237	+	Silent	SNP	G	G	A	rs150512706		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:142272237G>A	uc003eux.3	-	13	2759	c.2637C>T	c.(2635-2637)GCC>GCT	p.A879A		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	879					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						CTCCTTTTGCGGCCCTAAAAT	0.289								Other_conserved_DNA_damage_response_genes				
SELT	51714	broad.mit.edu	37	3	150344892	150344892	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:150344892A>G	uc011bnx.1	+	6	643	c.559A>G	c.(559-561)ATG>GTG	p.M187V		NM_016275	NP_057359	P62341	SELT_HUMAN	selenoprotein T precursor	187					cell redox homeostasis|selenocysteine incorporation		selenium binding				0			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CAATGTGCATATGGATTCAAT	0.378												
VEPH1	79674	broad.mit.edu	37	3	157081500	157081500	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:157081500T>C	uc003fbj.1	-	9	1705	c.1388A>G	c.(1387-1389)GAT>GGT	p.D463G	VEPH1_uc003fbk.1_Missense_Mutation_p.D463G|VEPH1_uc010hvu.1_Missense_Mutation_p.D463G	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	463						plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TTCGCCGTCATCTGAACCCAC	0.443												
WDR49	151790	broad.mit.edu	37	3	167319987	167319987	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:167319987G>A	uc003fev.1	-	3	486	c.180C>T	c.(178-180)GGC>GGT	p.G60G	WDR49_uc011bpd.1_Silent_p.G113G|WDR49_uc003few.1_Silent_p.G401G	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	60	WD 2.									large_intestine(1)|ovary(1)|skin(1)	3						TGGCTGAGTGGCCCCAAAGGA	0.373												
PHC3	80012	broad.mit.edu	37	3	169890411	169890411	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:169890411C>T	uc010hws.1	-	3	298	c.234G>A	c.(232-234)CTG>CTA	p.L78L	PHC3_uc003fgl.2_Silent_p.L90L|PHC3_uc011bpq.1_Silent_p.L90L|PHC3_uc011bpr.1_Silent_p.L90L|PHC3_uc003fgm.2_Silent_p.L90L|PHC3_uc003fgo.1_Silent_p.L74L|PHC3_uc003fgp.3_Silent_p.L86L|PHC3_uc003fgq.3_Silent_p.L90L	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	polyhomeotic like 3	78					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)			CTGCAGTATGCAGCATCAAGT	0.473												
KCNMB3	27094	broad.mit.edu	37	3	178984477	178984477	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:178984477C>T	uc003fjp.1	-	1	362	c.22G>A	c.(22-24)GTG>ATG	p.V8M	KCNMB3_uc011bqc.1_Missense_Mutation_p.V8M	NM_171828	NP_741979	Q9NPA1	KCMB3_HUMAN	calcium-activated potassium channel beta 3	Error:Variant_position_missing_in_Q9NPA1_after_alignment					detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity				0	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)			GTGATTTGCACGGGGATGCTG	0.582												
USP13	8975	broad.mit.edu	37	3	179448448	179448448	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:179448448C>A	uc003fkh.2	+	10	1286	c.1205C>A	c.(1204-1206)CCT>CAT	p.P402H	USP13_uc003fkf.2_Missense_Mutation_p.P402H	NM_003940	NP_003931	Q92995	UBP13_HUMAN	ubiquitin thiolesterase 13	402					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(1)	1	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TATTCAAAGCCTCCGGTGAAA	0.453												
PEX5L	51555	broad.mit.edu	37	3	179754369	179754369	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:179754369G>A	uc003fki.1	-	1	149	c.19C>T	c.(19-21)CAG>TAG	p.Q7*	PEX5L_uc003fkj.1_Nonsense_Mutation_p.Q7*|PEX5L_uc010hxd.1_Nonsense_Mutation_p.Q7*|PEX5L_uc011bqg.1_Nonsense_Mutation_p.Q7*|PEX5L_uc011bqh.1_Nonsense_Mutation_p.Q7*	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	7					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			ovary(3)|large_intestine(1)	4	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TGTCTTACCTGCATGTGTCCC	0.517												
MAP6D1	79929	broad.mit.edu	37	3	183535841	183535841	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:183535841C>T	uc003fmc.2	-	2	518	c.460G>A	c.(460-462)GCC>ACC	p.A154T		NM_024871	NP_079147	Q9H9H5	MA6D1_HUMAN	MAP6 domain containing 1	154						cytoskeleton					0	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;5.15e-42)|Epithelial(37;4.29e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATGACTCGGGCTGGTTTTGTC	0.582												
PDE6B	5158	broad.mit.edu	37	4	619512	619512	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:619512G>A	uc003gap.2	+	1	150	c.97G>A	c.(97-99)GCC>ACC	p.A33T	PDE6B_uc003gao.3_Missense_Mutation_p.A33T	NM_000283	NP_000274	P35913	PDE6B_HUMAN	phosphodiesterase 6B isoform 1	33				AAA -> GRG (in Ref. 1; CAA44569, 2; CAA46932 and 3; AAB22690).	cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0						TGAGAATGTGGCCGCGGCCTG	0.488												
PDE6B	5158	broad.mit.edu	37	4	619707	619707	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:619707C>T	uc003gap.2	+	1	345	c.292C>T	c.(292-294)CGC>TGC	p.R98C	PDE6B_uc003gao.3_Missense_Mutation_p.R98C	NM_000283	NP_000274	P35913	PDE6B_HUMAN	phosphodiesterase 6B isoform 1	98	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0						CTTCATGTACCGCCAGCGCAA	0.662												
TMEM175	84286	broad.mit.edu	37	4	941650	941650	+	Silent	SNP	C	C	T	rs34645349	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:941650C>T	uc003gbq.2	+	2	221	c.123C>T	c.(121-123)GAC>GAT	p.D41D	TMEM175_uc010ibl.1_Silent_p.D41D|TMEM175_uc003gbp.1_Translation_Start_Site|TMEM175_uc003gbr.2_Translation_Start_Site|TMEM175_uc003gbu.2_Intron|TMEM175_uc003gbs.2_Translation_Start_Site|TMEM175_uc003gbt.2_Translation_Start_Site|TMEM175_uc003gbv.2_Intron	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	transmembrane protein 175	41	Helical; (Potential).					integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCTTCAGTGACGCCCTGCTGT	0.672												
HTT	3064	broad.mit.edu	37	4	3208281	3208281	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:3208281A>G	uc011bvq.1	+	44	5928	c.5783A>G	c.(5782-5784)GAT>GGT	p.D1928G		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	1926					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)		CACATTCAAGATCTGATCAGC	0.463												
EVC	2121	broad.mit.edu	37	4	5803721	5803721	+	Silent	SNP	C	C	T	rs138114051		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:5803721C>T	uc003gil.1	+	16	2533	c.2349C>T	c.(2347-2349)AGC>AGT	p.S783S	EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	783					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				ACGTGACCAGCGCTGGTGTCA	0.592												
WFS1	7466	broad.mit.edu	37	4	6296857	6296857	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:6296857G>A	uc003giy.2	+	7	968	c.802G>A	c.(802-804)GAC>AAC	p.D268N	WFS1_uc003gix.2_Missense_Mutation_p.D268N|WFS1_uc003giz.2_Missense_Mutation_p.D86N	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	268					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)	2				Colorectal(103;0.0512)		CCTGCAGGACGACGAAGATGA	0.597												
TBC1D14	57533	broad.mit.edu	37	4	6925426	6925426	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:6925426G>A	uc011bwg.1	+	2	389	c.310G>A	c.(310-312)GCC>ACC	p.A104T	TBC1D14_uc003gjs.3_Missense_Mutation_p.A104T	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14 isoform a	104						intracellular	Rab GTPase activator activity			ovary(1)|pancreas(1)	2						CTTCCAGAGCGCCTGCGCGCT	0.662												
CCDC96	257236	broad.mit.edu	37	4	7043869	7043869	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:7043869G>A	uc003gjv.2	-	1	860	c.797C>T	c.(796-798)GCT>GTT	p.A266V	TADA2B_uc003gjw.3_5'Flank|TADA2B_uc010idi.2_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	266											0						AGCCACCTCAGCGGCCTCCAG	0.647												
AFAP1	60312	broad.mit.edu	37	4	7802370	7802370	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:7802370G>A	uc003gkg.1	-	10	1338	c.1065C>T	c.(1063-1065)AAC>AAT	p.N355N	AFAP1_uc011bwk.1_Silent_p.N355N	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	355	PH 2.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding				0						TGGAGAGCACGTTCAGATAGC	0.577												
BOD1L	259282	broad.mit.edu	37	4	13605718	13605718	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:13605718C>T	uc003gmz.1	-	10	2923	c.2806G>A	c.(2806-2808)GCA>ACA	p.A936T	BOD1L_uc010idr.1_Missense_Mutation_p.A273T	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	936	Lys-rich.						DNA binding			ovary(5)|breast(1)	6						GGAGTGGTTGCCTGTTTTGTG	0.373												
DHX15	1665	broad.mit.edu	37	4	24542564	24542564	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:24542564G>A	uc003gqx.2	-	9	1661	c.1493C>T	c.(1492-1494)ACC>ATC	p.T498I	DHX15_uc003gqw.2_5'Flank	NM_001358	NP_001349	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 15	498	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(1)	1		Breast(46;0.0503)				CTCAGGATAGGTGTTATCCTA	0.353												
ZCCHC4	29063	broad.mit.edu	37	4	25335563	25335563	+	Silent	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:25335563T>C	uc003grl.3	+	5	675	c.639T>C	c.(637-639)GGT>GGC	p.G213G	ZCCHC4_uc003grm.1_RNA|ZCCHC4_uc003grn.3_5'UTR	NM_024936	NP_079212	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	213							methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(2)	2		Breast(46;0.0503)				CAGCATCAGGTGACAAGAAGT	0.308												
KLHL5	51088	broad.mit.edu	37	4	39077615	39077615	+	Silent	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:39077615C>A	uc003gts.2	+	2	627	c.552C>A	c.(550-552)TCC>TCA	p.S184S	KLHL5_uc003gtp.2_Silent_p.S138S|KLHL5_uc003gtq.2_Translation_Start_Site|KLHL5_uc003gtr.1_Silent_p.S184S|KLHL5_uc003gtt.2_Intron	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	kelch-like 5 isoform 1	184						cytoplasm|cytoskeleton	actin binding			ovary(1)	1						CATTATCATCCTGTCATACTA	0.313												
LPHN3	23284	broad.mit.edu	37	4	62800606	62800606	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:62800606G>A	uc010ihh.2	+	11	2130	c.1957G>A	c.(1957-1959)GCA>ACA	p.A653T	LPHN3_uc003hcq.3_Missense_Mutation_p.A653T|LPHN3_uc003hct.2_Missense_Mutation_p.A46T|LPHN3_uc003hcs.1_Missense_Mutation_p.A469T	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	640	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						AGCTTTGAATGCATGGAGAGA	0.478												
EPHA5	2044	broad.mit.edu	37	4	66233137	66233137	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:66233137C>T	uc003hcy.2	-	10	2055	c.1862G>A	c.(1861-1863)TGT>TAT	p.C621Y	EPHA5_uc003hcx.2_Missense_Mutation_p.C553Y|EPHA5_uc003hcz.2_Missense_Mutation_p.C599Y|EPHA5_uc011cah.1_Missense_Mutation_p.C622Y|EPHA5_uc011cai.1_Missense_Mutation_p.C600Y|EPHA5_uc003hda.2_Missense_Mutation_p.C622Y	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	621	Cytoplasmic (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						GCTGTAGCCACACCGCCTGGA	0.373										TSP Lung(17;0.13)		
RUFY3	22902	broad.mit.edu	37	4	71654646	71654646	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:71654646G>T	uc003hfq.2	+	11	1790	c.1195G>T	c.(1195-1197)GAT>TAT	p.D399Y	RUFY3_uc003hfp.3_Missense_Mutation_p.D459Y|RUFY3_uc011cax.1_Missense_Mutation_p.D417Y|RUFY3_uc003hfr.2_Missense_Mutation_p.D399Y|RUFY3_uc011cay.1_Missense_Mutation_p.D335Y	NM_014961	NP_055776	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3 isoform 2	399	Potential.				negative regulation of axonogenesis	filopodium|growth cone					0		all_hematologic(202;0.248)	Lung(101;0.235)			GCAGCAGCTGGATGACCTCAG	0.507												
ADAMTS3	9508	broad.mit.edu	37	4	73149282	73149282	+	Silent	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:73149282T>C	uc003hgk.1	-	22	3226	c.3189A>G	c.(3187-3189)CTA>CTG	p.L1063L		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1063					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAGCAGCTTCTAGAAGGTATG	0.473												
ADAMTS3	9508	broad.mit.edu	37	4	73205406	73205406	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:73205406C>T	uc003hgk.1	-	5	703	c.666G>A	c.(664-666)TCG>TCA	p.S222S		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	222					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTCCAGGTCCGACTCTAATA	0.453												
HERC6	55008	broad.mit.edu	37	4	89326038	89326038	+	Missense_Mutation	SNP	C	C	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:89326038C>G	uc011cdi.1	+	9	1286	c.1103C>G	c.(1102-1104)TCC>TGC	p.S368C	HERC6_uc011cdj.1_Missense_Mutation_p.S368C|HERC6_uc011cdk.1_Intron|HERC6_uc011cdl.1_Intron	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	hect domain and RLD 6 isoform 1	368					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			lung(3)|ovary(1)|kidney(1)	5		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GATACTAGTTCCACACGTGCT	0.428												
GRID2	2895	broad.mit.edu	37	4	94032033	94032033	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:94032033C>T	uc011cdt.1	+	4	922	c.664C>T	c.(664-666)CGC>TGC	p.R222C	GRID2_uc010ikx.2_Missense_Mutation_p.R222C|GRID2_uc011cdu.1_Missense_Mutation_p.R127C|GRID2_uc011cdv.1_RNA	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	222	Extracellular (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AGAACTGAATCGCTATCGAGA	0.418												
KIAA1109	84162	broad.mit.edu	37	4	123184039	123184039	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:123184039A>G	uc003ieh.2	+	41	6928	c.6883A>G	c.(6883-6885)AGC>GGC	p.S2295G	KIAA1109_uc003iel.1_Missense_Mutation_p.S230G|KIAA1109_uc003iek.2_Missense_Mutation_p.S914G	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	2295					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						GAGCCTACTCAGCTACCTGAC	0.532												
PHF17	79960	broad.mit.edu	37	4	129776926	129776926	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:129776926G>A	uc003igk.2	+	7	1118	c.838G>A	c.(838-840)GTT>ATT	p.V280I	PHF17_uc003igj.2_Missense_Mutation_p.V280I|PHF17_uc003igl.2_Missense_Mutation_p.V268I|PHF17_uc011cgy.1_Missense_Mutation_p.V280I|PHF17_uc003igm.2_Missense_Mutation_p.V280I	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	PHD finger protein 17 long isoform	280					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding				0						GTGGGTCCACGTTAGCTGTGC	0.403												
PCDH18	54510	broad.mit.edu	37	4	138442446	138442446	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:138442446A>G	uc003ihe.3	-	4	3532	c.3145T>C	c.(3145-3147)TAC>CAC	p.Y1049H	PCDH18_uc003ihf.3_Missense_Mutation_p.Y1041H|PCDH18_uc011cgz.1_Missense_Mutation_p.Y260H|PCDH18_uc003ihg.3_Missense_Mutation_p.Y828H|PCDH18_uc011cha.1_Missense_Mutation_p.Y229H	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	1049	Interaction with DAB1 (By similarity).|Cytoplasmic (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					CCCTGTGGGTAACCCACAGTT	0.582												
MAML3	55534	broad.mit.edu	37	4	140641171	140641171	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:140641171C>A	uc003ihz.1	-	7	3460	c.2708G>T	c.(2707-2709)GGG>GTG	p.G903V	MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Missense_Mutation_p.G371V	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	904	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)					CATTCCAACCCCCTGCCCAGA	0.557												
MMAA	166785	broad.mit.edu	37	4	146576477	146576477	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:146576477C>A	uc003ikh.3	+	7	1233	c.1148C>A	c.(1147-1149)CCC>CAC	p.P383H	MMAA_uc010iow.2_RNA	NM_172250	NP_758454	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria type A precursor	383						mitochondrion	GTP binding|nucleoside-triphosphatase activity			ovary(1)	1	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGACCCACCCCACAGTCCGG	0.493												
NR3C2	4306	broad.mit.edu	37	4	149357534	149357534	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:149357534G>A	uc003ilj.3	-	2	813	c.479C>T	c.(478-480)CCC>CTC	p.P160L	NR3C2_uc003ilk.3_Missense_Mutation_p.P160L|NR3C2_uc010iph.2_RNA	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	160	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)	TGATCTCAAGGGCGTGTTCAC	0.463												
DCHS2	54798	broad.mit.edu	37	4	155250793	155250793	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:155250793G>A	uc003inw.2	-	11	2435	c.2435C>T	c.(2434-2436)ACA>ATA	p.T812I	DCHS2_uc003inx.2_Missense_Mutation_p.T1267I	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	812	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GCCGCGGTCTGTCACTAGCAC	0.552												
FAM198B	51313	broad.mit.edu	37	4	159092457	159092457	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:159092457C>T	uc003ipp.3	-	2	523	c.71G>A	c.(70-72)CGT>CAT	p.R24H	uc003ipu.1_5'Flank|FAM198B_uc003ipq.3_Missense_Mutation_p.R24H|FAM198B_uc003ipr.3_Missense_Mutation_p.R24H|FAM198B_uc003ips.2_Missense_Mutation_p.R24H|uc003ipt.1_RNA	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN	hypothetical protein LOC51313 isoform 2	24	Cytoplasmic (Potential).					Golgi membrane|integral to membrane					0						CCAGAGCTTACGCACCCGCGG	0.612												
FNIP2	57600	broad.mit.edu	37	4	159756572	159756572	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:159756572T>A	uc003iqe.3	+	7	854	c.671T>A	c.(670-672)GTT>GAT	p.V224D		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	224					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		AGCACACCAGTTGATATGCCA	0.373												
MFAP3L	9848	broad.mit.edu	37	4	170913207	170913207	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:170913207C>A	uc003isp.3	-	3	730	c.552G>T	c.(550-552)AAG>AAT	p.K184N	MFAP3L_uc003isn.3_Missense_Mutation_p.K81N	NM_021647	NP_067679	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like isoform	184	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)	1		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		CATTGATGGCCTTCTCAGTCT	0.517												
GALNTL6	442117	broad.mit.edu	37	4	172735778	172735778	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:172735778C>T	uc003isv.2	+	2	783	c.47C>T	c.(46-48)ACG>ATG	p.T16M		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	16	Helical; Signal-anchor for type II membrane protein; (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)|skin(1)	4						TTGTTGTTCACGGTGGCTTTA	0.478												
ASB5	140458	broad.mit.edu	37	4	177146478	177146478	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:177146478G>A	uc003iuq.1	-	2	227	c.211C>T	c.(211-213)CGA>TGA	p.R71*	ASB5_uc003iup.1_Nonsense_Mutation_p.R18*	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box-containing protein	71	ANK 1.				intracellular signal transduction					skin(2)	2		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		AGTGGTGATCGATCTGCCCAG	0.338												
C4orf41	60684	broad.mit.edu	37	4	184605943	184605943	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:184605943A>G	uc003ivx.2	+	15	1692	c.1516A>G	c.(1516-1518)ATG>GTG	p.M506V	C4orf41_uc003ivw.2_Missense_Mutation_p.M506V|C4orf41_uc010isc.2_Intron|C4orf41_uc003ivy.2_Missense_Mutation_p.M112V	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	hypothetical protein LOC60684 isoform a	506											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)		CTCCTACCTCATGGCCCAATT	0.383												
HELT	391723	broad.mit.edu	37	4	185941867	185941867	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:185941867G>A	uc011ckq.1	+	4	925	c.925G>A	c.(925-927)GGC>AGC	p.G309S	HELT_uc011cko.1_Missense_Mutation_p.G224S|HELT_uc003ixa.3_Missense_Mutation_p.G223S|HELT_uc011ckp.1_Missense_Mutation_p.G167S	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN	HES/HEY-like transcription factor	309							DNA binding				0		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CAACCTGATCGGCCACGCGCA	0.692												
FAT1	2195	broad.mit.edu	37	4	187527365	187527365	+	Silent	SNP	A	A	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:187527365A>T	uc003izf.2	-	17	10397	c.10209T>A	c.(10207-10209)ATT>ATA	p.I3403I		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3403	Extracellular (Potential).|Cadherin 31.				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						TGTAACCTGAAATCTTTTCAG	0.512										HNSCC(5;0.00058)		
IRX1	79192	broad.mit.edu	37	5	3601109	3601109	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:3601109G>A	uc003jde.2	+	4	1450	c.1398G>A	c.(1396-1398)CCG>CCA	p.P466P		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	466						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						CTCTGGCCCCGCAGGAGGGAA	0.657												
ADAMTS16	170690	broad.mit.edu	37	5	5303789	5303789	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:5303789C>T	uc003jdl.2	+	20	3234	c.3096C>T	c.(3094-3096)TCC>TCT	p.S1032S	ADAMTS16_uc003jdk.1_Silent_p.S1032S	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1032	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						TCTGCACCTCCGAGCCCAAGC	0.652												
SEMA5A	9037	broad.mit.edu	37	5	9052130	9052130	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:9052130C>T	uc003jek.2	-	20	3412	c.2700G>A	c.(2698-2700)TCG>TCA	p.S900S		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	900	Extracellular (Potential).|TSP type-1 7.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						CCGACCACTCCGACCAGCTCT	0.577												
DAP	1611	broad.mit.edu	37	5	10681222	10681222	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:10681222G>A	uc003jez.3	-	4	462	c.255C>T	c.(253-255)TCC>TCT	p.S85S	DAP_uc011cmw.1_Missense_Mutation_p.P71L	NM_004394	NP_004385	P51397	DAP1_HUMAN	death-associated protein	85					activation of caspase activity|cellular response to amino acid starvation|induction of apoptosis by extracellular signals|negative regulation of autophagy|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent		death domain binding				0		Ovarian(839;1.34e-05)|Breast(839;0.0634)|Lung NSC(810;0.0804)				GCTTGTCCATGGAGGCATGCG	0.602												
CTNND2	1501	broad.mit.edu	37	5	11082891	11082891	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:11082891C>T	uc003jfa.1	-	16	2850	c.2705G>A	c.(2704-2706)CGA>CAA	p.R902Q	CTNND2_uc010itt.2_Missense_Mutation_p.R811Q|CTNND2_uc011cmy.1_Missense_Mutation_p.R565Q|CTNND2_uc011cmz.1_Missense_Mutation_p.R469Q|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.R494Q	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	902	ARM 8.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						ATTGTCTATTCGGAGCAGCTC	0.547												
DNAH5	1767	broad.mit.edu	37	5	13735996	13735996	+	Missense_Mutation	SNP	C	C	T	rs139914691		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:13735996C>T	uc003jfd.2	-	67	11543	c.11501G>A	c.(11500-11502)CGC>CAC	p.R3834H	DNAH5_uc003jfc.2_Missense_Mutation_p.R2H	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3834					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)					ATTAACCAAGCGCATCTCAGT	0.488									Kartagener_syndrome			
PDZD2	23037	broad.mit.edu	37	5	31799500	31799500	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:31799500A>G	uc003jhl.2	+	2	533	c.145A>G	c.(145-147)AAC>GAC	p.N49D	PDZD2_uc003jhm.2_Missense_Mutation_p.N49D	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	49					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						CATCCAGCTGAACTTTGCTGT	0.602												
PDZD2	23037	broad.mit.edu	37	5	32048734	32048734	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:32048734C>T	uc003jhl.2	+	8	1997	c.1609C>T	c.(1609-1611)CGA>TGA	p.R537*	PDZD2_uc003jhm.2_Nonsense_Mutation_p.R537*|PDZD2_uc011cnx.1_Nonsense_Mutation_p.R363*	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	537					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						GGAGGTCTCCCGAGATGGCCG	0.562												
PARP8	79668	broad.mit.edu	37	5	50137811	50137811	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:50137811G>A	uc003jon.3	+	27	2656	c.2474G>A	c.(2473-2475)GGC>GAC	p.G825D	PARP8_uc011cpz.1_Missense_Mutation_p.G717D|PARP8_uc003joo.2_Missense_Mutation_p.G825D|PARP8_uc003jop.2_Missense_Mutation_p.G783D	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	825	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity			lung(3)|large_intestine(1)|ovary(1)	5		Lung NSC(810;0.0305)|Breast(144;0.222)				TATGAAGACGGCCAAGTGGGA	0.338												
SKIV2L2	23517	broad.mit.edu	37	5	54696084	54696084	+	Silent	SNP	C	C	T	rs143135345	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:54696084C>T	uc003jpy.3	+	21	2582	c.2316C>T	c.(2314-2316)GAC>GAT	p.D772D	SKIV2L2_uc011cqi.1_Silent_p.D671D	NM_015360	NP_056175	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2	772					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(1)|skin(1)	2		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GTTTTCCTGACGGCATCCCCT	0.343												
MAP3K1	4214	broad.mit.edu	37	5	56179395	56179395	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:56179395G>A	uc003jqw.3	+	15	4209	c.3708G>A	c.(3706-3708)CCG>CCA	p.P1236P		NM_005921	NP_005912	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase	1236					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAAAACAACCGTATAGAGAAG	0.383												
RGNEF	64283	broad.mit.edu	37	5	73045775	73045775	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:73045775C>T	uc011csq.1	+	2	158	c.147C>T	c.(145-147)CGC>CGT	p.R49R	RGNEF_uc003kcx.2_Silent_p.R49R|RGNEF_uc003kcy.1_Silent_p.R49R|RGNEF_uc010izf.2_Silent_p.R49R	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Rho-guanine nucleotide exchange factor	49					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding				0		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		TTGCAGAGCGCATCGAGGATA	0.458												
COL4A3BP	10087	broad.mit.edu	37	5	74681788	74681788	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:74681788G>A	uc011csu.1	-	13	1778	c.1356C>T	c.(1354-1356)GGC>GGT	p.G452G	COL4A3BP_uc003kds.2_Silent_p.G426G|COL4A3BP_uc003kdt.2_Silent_p.G580G|COL4A3BP_uc003kdu.2_Silent_p.G452G	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN	alpha 3 type IV collagen binding protein isoform	452	START.				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			skin(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		GTCCTGTGACGCCTTTAACTG	0.333												
CMYA5	202333	broad.mit.edu	37	5	79089347	79089347	+	Silent	SNP	C	C	T	rs148082008	by1000genomes	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:79089347C>T	uc003kgc.2	+	12	11949	c.11877C>T	c.(11875-11877)CTC>CTT	p.L3959L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3959	B30.2/SPRY.					perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CATATCGACTCGGCATCTGCT	0.587												
ZFYVE16	9765	broad.mit.edu	37	5	79746297	79746297	+	Silent	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:79746297T>C	uc003kgr.3	+	10	3576	c.3274T>C	c.(3274-3276)TTG>CTG	p.L1092L	ZFYVE16_uc003kgp.2_Silent_p.L1092L|ZFYVE16_uc003kgq.3_Silent_p.L1092L|ZFYVE16_uc003kgs.3_Silent_p.L1092L|ZFYVE16_uc003kgt.3_Silent_p.L180L	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1092					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity				0		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		ATTGCATGGCTTGGGACAGGC	0.308												
RASGRF2	5924	broad.mit.edu	37	5	80256573	80256573	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:80256573C>T	uc003kha.1	+	1	16	c.16C>T	c.(16-18)CGC>TGC	p.R6C	RASGRF2_uc011ctn.1_RNA	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	6					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GAAGAGCGTGCGCTACAACGA	0.711												
HAPLN1	1404	broad.mit.edu	37	5	82940461	82940461	+	Nonsense_Mutation	SNP	G	G	A	rs147329529	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:82940461G>A	uc003kim.2	-	3	567	c.496C>T	c.(496-498)CGA>TGA	p.R166*	HAPLN1_uc003kin.2_Nonsense_Mutation_p.R166*	NM_001884	NP_001875	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	166	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			large_intestine(3)|ovary(1)|skin(1)	5		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		CGCCCCAGTCGTGGAAAGTAA	0.532												
RASA1	5921	broad.mit.edu	37	5	86668007	86668007	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:86668007C>T	uc003kiw.2	+	13	1889	c.1771C>T	c.(1771-1773)CGT>TGT	p.R591C	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.R414C|RASA1_uc011ctv.1_Missense_Mutation_p.R424C|RASA1_uc011ctw.1_Missense_Mutation_p.R425C|RASA1_uc010jaw.2_Missense_Mutation_p.R413C	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	591	C2.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TAAACGCCTTCGTCAGGTGAA	0.353												
MEF2C	4208	broad.mit.edu	37	5	88025035	88025035	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:88025035C>T	uc003kjj.2	-	9	1637	c.964G>A	c.(964-966)GAG>AAG	p.E322K	MEF2C_uc003kji.2_Missense_Mutation_p.E314K|MEF2C_uc003kjk.2_Missense_Mutation_p.E322K|MEF2C_uc003kjm.2_Missense_Mutation_p.E312K|MEF2C_uc003kjl.2_Missense_Mutation_p.E332K	NM_002397	NP_002388	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C isoform 1	322					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(3)|breast(2)|ovary(1)|large_intestine(1)	7		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		AGCTACTCACCGGTACCATAT	0.378										HNSCC(66;0.2)		
RGMB	285704	broad.mit.edu	37	5	98115403	98115403	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:98115403C>T	uc003knc.2	+	4	781	c.379C>T	c.(379-381)CGT>TGT	p.R127C	RGMB_uc003knb.2_Missense_Mutation_p.R127C	NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN	RGM domain family, member B	86					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding				0		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		CAAGGCCTTGCGTGCCTATGC	0.542												
WDR36	134430	broad.mit.edu	37	5	110446870	110446870	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:110446870G>A	uc003kpd.2	+	15	1894	c.1777G>A	c.(1777-1779)GGC>AGC	p.G593S	WDR36_uc010jbu.2_RNA	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	WD repeat domain 36	593					response to stimulus|rRNA processing|visual perception	small-subunit processome				ovary(1)|skin(1)	2		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TCTTGCTAGTGGCATTCTGGG	0.388												
APC	324	broad.mit.edu	37	5	112175150	112175150	+	Missense_Mutation	SNP	A	A	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:112175150A>C	uc010jby.2	+	16	4239	c.3859A>C	c.(3859-3861)ATA>CTA	p.I1287L	APC_uc011cvt.1_Missense_Mutation_p.I1269L|APC_uc003kpz.3_Missense_Mutation_p.I1287L|APC_uc003kpy.3_Missense_Mutation_p.I1287L|APC_uc010jbz.2_Missense_Mutation_p.I1004L|APC_uc010jca.2_Missense_Mutation_p.I587L	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1287	Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.I1287fs*1(2)|p.I1287fs*3(2)|p.I1287fs*18(1)|p.?(1)|p.I1287fs*4(1)|p.K1192fs*3(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGAAGATGAAATAGGATGTAA	0.348		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)		
APC	324	broad.mit.edu	37	5	112176568	112176568	+	Silent	SNP	A	A	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:112176568A>C	uc010jby.2	+	16	5657	c.5277A>C	c.(5275-5277)GCA>GCC	p.A1759A	APC_uc011cvt.1_Silent_p.A1741A|APC_uc003kpz.3_Silent_p.A1759A|APC_uc003kpy.3_Silent_p.A1759A|APC_uc010jbz.2_Silent_p.A1476A|APC_uc010jca.2_Silent_p.A1059A	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	1759	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CTTCTTCTGCACCCAACAAAA	0.388		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)		
ZNF474	133923	broad.mit.edu	37	5	121488178	121488178	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:121488178C>A	uc003ksv.2	+	2	869	c.493C>A	c.(493-495)CTG>ATG	p.L165M		NM_207317	NP_997200	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	165						intracellular	zinc ion binding				0		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		CCAGGCTCAGCTGCTGCCCTG	0.557												
MEGF10	84466	broad.mit.edu	37	5	126776468	126776468	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:126776468G>A	uc003kuh.3	+	19	2633	c.2271G>A	c.(2269-2271)CTG>CTA	p.L757L	MEGF10_uc003kui.3_Silent_p.L757L	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	757	Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EGF-like 14.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ATTGTGCACTGATATGCCAAT	0.512												
SLC27A6	28965	broad.mit.edu	37	5	128359405	128359405	+	Splice_Site	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:128359405T>C	uc003kuy.2	+	7	1651	c.1255_splice	c.e7+2	p.G419_splice	SLC27A6_uc003kuz.2_Splice_Site_p.G419_splice	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid						long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding				0		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TGAAAAAAGGTAAGACTTCTA	0.274												
CHSY3	337876	broad.mit.edu	37	5	129241165	129241165	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:129241165G>A	uc003kvd.2	+	1	643	c.643G>A	c.(643-645)GGC>AGC	p.G215S		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	215	Lumenal (Potential).|Pro-rich.					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(2)|pancreas(1)	3		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CCCCAACGCCGGCCAGCCCCC	0.657												
ACSL6	23305	broad.mit.edu	37	5	131305865	131305865	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:131305865C>T	uc010jdo.1	-	15	1471	c.1388G>A	c.(1387-1389)TGC>TAC	p.C463Y	ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Missense_Mutation_p.C488Y|ACSL6_uc003kvy.1_Missense_Mutation_p.C488Y|ACSL6_uc003kwb.2_Missense_Mutation_p.C453Y|ACSL6_uc003kvz.1_Missense_Mutation_p.C388Y|ACSL6_uc003kwa.1_Missense_Mutation_p.C474Y|ACSL6_uc003kvw.1_Missense_Mutation_p.C109Y|ACSL6_uc010jdn.1_Missense_Mutation_p.C478Y	NM_015256	NP_056071	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	463	Cytoplasmic (Potential).				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCAGCTGTGCACTCAGTTTG	0.527												
ACSL6	23305	broad.mit.edu	37	5	131329888	131329888	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:131329888G>A	uc010jdo.1	-	2	114	c.31C>T	c.(31-33)CGA>TGA	p.R11*	ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Nonsense_Mutation_p.R36*|ACSL6_uc003kvy.1_Nonsense_Mutation_p.R36*|ACSL6_uc003kwb.2_Nonsense_Mutation_p.R36*|ACSL6_uc003kvz.1_Nonsense_Mutation_p.R11*|ACSL6_uc003kwa.1_Nonsense_Mutation_p.R22*|ACSL6_uc003kwc.1_Nonsense_Mutation_p.R11*|ACSL6_uc003kwd.1_Nonsense_Mutation_p.R11*|ACSL6_uc010jdn.1_Nonsense_Mutation_p.R11*	NM_015256	NP_056071	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	11					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAGGCAGTCGCAGTATCCTC	0.542												
RAD50	10111	broad.mit.edu	37	5	131911487	131911487	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:131911487G>A	uc003kxi.2	+	3	619	c.232G>A	c.(232-234)GTG>ATG	p.V78M	RAD50_uc003kxg.1_Translation_Start_Site|RAD50_uc003kxh.2_Translation_Start_Site	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	78					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGAAACAGATGTGAGAGCCCA	0.373								Homologous_recombination				
AFF4	27125	broad.mit.edu	37	5	132270345	132270345	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:132270345C>T	uc003kyd.2	-	3	820	c.412G>A	c.(412-414)GCA>ACA	p.A138T	AFF4_uc011cxk.1_5'UTR|AFF4_uc003kye.1_Missense_Mutation_p.A138T|AFF4_uc003kyf.3_Missense_Mutation_p.A138T	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	138	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGCTACCTGCGCTGGTCCGC	0.537												
CATSPER3	347732	broad.mit.edu	37	5	134305722	134305722	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:134305722G>A	uc003lag.2	+	2	260	c.192G>A	c.(190-192)GCG>GCA	p.A64A		NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	64	Helical; Name=Segment S1; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CATCGAATGCGTTTTTTATGG	0.388												
CATSPER3	347732	broad.mit.edu	37	5	134346089	134346089	+	Silent	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:134346089T>C	uc003lag.2	+	7	1031	c.963T>C	c.(961-963)AGT>AGC	p.S321S		NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	321					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAAGTTTCAGTGAGCTGGTGG	0.468												
EGR1	1958	broad.mit.edu	37	5	137803102	137803102	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:137803102C>T	uc003ldb.1	+	2	1234	c.964C>T	c.(964-966)CGC>TGC	p.R322C	EGR1_uc011cyu.1_Intron	NM_001964	NP_001955	P18146	EGR1_HUMAN	early growth response 1	322					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAGCCGCATGCGCAAGTACCC	0.617												
SIL1	64374	broad.mit.edu	37	5	138287504	138287504	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:138287504C>T	uc003ldm.2	-	7	854	c.837G>A	c.(835-837)ACG>ACA	p.T279T	SIL1_uc003ldn.2_Silent_p.T278T|SIL1_uc003ldo.2_Silent_p.T279T|SIL1_uc003ldp.2_Silent_p.T279T|SIL1_uc003ldq.1_Silent_p.T72T	NM_022464	NP_071909	Q9H173	SIL1_HUMAN	SIL1 protein precursor	279					intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCGGCTGCTCCGTGGCCAGGA	0.607									Marinesco-Sj_gren_syndrome			
CXXC5	51523	broad.mit.edu	37	5	139060917	139060917	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:139060917G>A	uc010jfg.1	+	2	1099	c.809G>A	c.(808-810)CGG>CAG	p.R270Q	CXXC5_uc003let.2_Missense_Mutation_p.R270Q	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	CXXC finger 5	270	CXXC-type.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCCCTGCCGGCGGCGCATC	0.572												
PCDHA5	56143	broad.mit.edu	37	5	140202504	140202504	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:140202504G>A	uc003lhl.2	+	1	1144	c.1144G>A	c.(1144-1146)GGG>AGG	p.G382R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.G382R|PCDHA5_uc003lhj.1_Missense_Mutation_p.G382R	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	382	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGCCAACGGGCAGGTGAC	0.577												
PCDHA8	56140	broad.mit.edu	37	5	140221143	140221143	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:140221143G>A	uc003lhs.2	+	1	237	c.237G>A	c.(235-237)CTG>CTA	p.L79L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.L79L	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	79	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTAAGTCTGCAGAATGGCA	0.642												
PCDHAC2	56134	broad.mit.edu	37	5	140346615	140346615	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:140346615C>T	uc003lii.2	+	1	504	c.264C>T	c.(262-264)CGC>CGT	p.R88R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Silent_p.R88R	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	88	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)			CCAGTCCGCGCTACCTGGAGC	0.687												
PCDHB8	56128	broad.mit.edu	37	5	140558711	140558711	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:140558711G>A	uc011dai.1	+	1	1282	c.1096G>A	c.(1096-1098)GTT>ATT	p.V366I	PCDHB16_uc003liv.2_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	366	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAAACTGTGGTTGCACTTTT	0.458												
PCDHB16	57717	broad.mit.edu	37	5	140564305	140564305	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:140564305G>A	uc003liv.2	+	1	3326	c.2171G>A	c.(2170-2172)CGC>CAC	p.R724H	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	724	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGGTGGGCCGCTGCTCGATG	0.662												
SLC25A2	83884	broad.mit.edu	37	5	140683317	140683317	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:140683317G>A	uc003ljf.2	-	1	296	c.116C>T	c.(115-117)ACG>ATG	p.T39M		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 member 2	39	Solcar 1.				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	p.T39M(1)		ovary(1)	1		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	GTCAGGGAACGTCTGCATCTT	0.612												
PCDHGA1	56114	broad.mit.edu	37	5	140712162	140712162	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:140712162G>A	uc003lji.1	+	1	1911	c.1911G>A	c.(1909-1911)GCG>GCA	p.A637A	PCDHGA1_uc011dan.1_Silent_p.A637A	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	637	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A637A(1)		ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGAGACGCGCTCAAGCAGA	0.697												
PCDHGA5	56110	broad.mit.edu	37	5	140745766	140745766	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:140745766G>A	uc003lju.1	+	1	1869	c.1869G>A	c.(1867-1869)ACG>ACA	p.T623T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Silent_p.T623T	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	623	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTGCACACGGGCGAGGTGC	0.652												
PCDHGB5	56101	broad.mit.edu	37	5	140779369	140779369	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:140779369C>T	uc003lkf.1	+	1	1675	c.1675C>T	c.(1675-1677)CTG>TTG	p.L559L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Silent_p.L559L	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	559	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)			ACCGCGGGTGCTGTACCCCGC	0.687												
PCDHGA10	56106	broad.mit.edu	37	5	140792807	140792807	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:140792807T>A	uc003lkl.1	+	1	65	c.65T>A	c.(64-66)CTT>CAT	p.L22H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.L22H	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	22					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)			CTGCTCTGCCTTTTCTTCGGG	0.512											OREG0016862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PCDHGA10	56106	broad.mit.edu	37	5	140794633	140794633	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:140794633C>T	uc003lkl.1	+	1	1891	c.1891C>T	c.(1891-1893)CGC>TGC	p.R631C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.R631C|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	631	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGAGGTGCGCACGGCGCG	0.692												
PCDH1	5097	broad.mit.edu	37	5	141243184	141243184	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:141243184C>A	uc003llq.2	-	3	2829	c.2712G>T	c.(2710-2712)AAG>AAT	p.K904N	PCDH1_uc003llp.2_Missense_Mutation_p.K904N|PCDH1_uc011dbf.1_Missense_Mutation_p.K882N	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	904	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CCTTGGAGGCCTTGCCACTGG	0.582												
ARHGAP26	23092	broad.mit.edu	37	5	142273906	142273906	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:142273906T>G	uc011dbj.1	+	6	625	c.590T>G	c.(589-591)GTG>GGG	p.V197G	ARHGAP26_uc003lmt.2_Missense_Mutation_p.V197G|ARHGAP26_uc003lmw.2_Missense_Mutation_p.V197G	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	GTPase regulator associated with the focal	197					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(1)	1		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTGAGTTTGTGGAGCCTGTA	0.408												
PDGFRB	5159	broad.mit.edu	37	5	149498404	149498404	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:149498404A>G	uc003lro.2	-	21	3279	c.2810T>C	c.(2809-2811)ATG>ACG	p.M937T	PDGFRB_uc010jhd.2_Missense_Mutation_p.M776T	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	937	Cytoplasmic (Potential).|Protein kinase.				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)	GCACTTCTGCATGATCTCATA	0.582			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML							
CAMK2A	815	broad.mit.edu	37	5	149602647	149602647	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:149602647G>A	uc003lru.2	-	17	1553	c.1338C>T	c.(1336-1338)ACC>ACT	p.T446T	CAMK2A_uc003lrs.2_Silent_p.T157T|CAMK2A_uc003lrt.2_Silent_p.T457T	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II	446					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			large_intestine(1)	1		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCGACTGGGCGGTGCGTGGGA	0.647												
FAT2	2196	broad.mit.edu	37	5	150946634	150946634	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:150946634G>A	uc003lue.3	-	1	1872	c.1859C>T	c.(1858-1860)TCC>TTC	p.S620F	GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.S620F	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	620	Extracellular (Potential).|Cadherin 5.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGTTTGAGGGATATCACTCC	0.418												
HAVCR1	26762	broad.mit.edu	37	5	156482260	156482260	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:156482260C>T	uc010jij.1	-	3	516	c.331G>A	c.(331-333)GGG>AGG	p.G111R	HAVCR1_uc011ddl.1_5'Flank|HAVCR1_uc003lwi.2_Missense_Mutation_p.G111R|HAVCR1_uc011ddm.1_Missense_Mutation_p.G111R	NM_001099414	NP_001092884	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	111	Extracellular (Potential).|Ig-like V-type.				interspecies interaction between organisms	integral to membrane	receptor activity			ovary(1)|skin(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGAACCACCCACGGTGCTCA	0.408												
CYFIP2	26999	broad.mit.edu	37	5	156747709	156747709	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:156747709C>T	uc003lwq.2	+	17	1708	c.1570C>T	c.(1570-1572)CGA>TGA	p.R524*	CYFIP2_uc011ddn.1_Nonsense_Mutation_p.R498*|CYFIP2_uc011ddo.1_Nonsense_Mutation_p.R328*|CYFIP2_uc003lwr.2_Nonsense_Mutation_p.R524*|CYFIP2_uc003lws.2_Nonsense_Mutation_p.R524*|CYFIP2_uc003lwt.2_Nonsense_Mutation_p.R402*|CYFIP2_uc011ddp.1_Nonsense_Mutation_p.R258*	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	524					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGAGGGAGGGCGAGAGCCCCC	0.557												
PWWP2A	114825	broad.mit.edu	37	5	159520917	159520917	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:159520917G>A	uc011ded.1	-	2	797	c.740C>T	c.(739-741)CCG>CTG	p.P247L	PWWP2A_uc003lxv.3_Missense_Mutation_p.P247L|PWWP2A_uc011dec.1_Missense_Mutation_p.P247L	NM_001130864	NP_001124336	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A isoform b	247	Pro-rich.										0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCGGGATGCGGGACAGGAGA	0.517												
CCNJL	79616	broad.mit.edu	37	5	159680793	159680793	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:159680793G>A	uc003lyb.1	-	7	1152	c.900C>T	c.(898-900)AAC>AAT	p.N300N	CCNJL_uc011dee.1_Silent_p.N252N|CCNJL_uc003lyc.1_RNA	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	cyclin J-like	300						nucleus					0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTTGAGGACGTTGTCATACA	0.582												
WWC1	23286	broad.mit.edu	37	5	167835607	167835607	+	Silent	SNP	G	G	A	rs140218628	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:167835607G>A	uc003lzu.2	+	7	909	c.816G>A	c.(814-816)CCG>CCA	p.P272P	WWC1_uc003lzv.2_Silent_p.P272P|WWC1_uc011den.1_Silent_p.P272P|WWC1_uc003lzw.2_Silent_p.P71P	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1 isoform 3	272					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			ovary(2)|skin(2)|breast(1)	5	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CGAGTTTCCCGCTACCGAAAC	0.592												
GPRIN1	114787	broad.mit.edu	37	5	176024847	176024847	+	Silent	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:176024847T>C	uc003meo.1	-	2	2164	c.1989A>G	c.(1987-1989)ACA>ACG	p.T663T		NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	G protein-regulated inducer of neurite outgrowth	663						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)			AGGCCTGTGGTGTCTCCTTTT	0.597												
GPRIN1	114787	broad.mit.edu	37	5	176025084	176025084	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:176025084C>T	uc003meo.1	-	2	1927	c.1752G>A	c.(1750-1752)CCG>CCA	p.P584P		NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	G protein-regulated inducer of neurite outgrowth	584						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)			CCGAGGGCACCGGGACTGTTT	0.562												
LMAN2	10960	broad.mit.edu	37	5	176765576	176765576	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:176765576C>T	uc003mge.2	-	3	583	c.346G>A	c.(346-348)GTC>ATC	p.V116I	LMAN2_uc003mgd.2_Missense_Mutation_p.V116I	NM_006816	NP_006807	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2 precursor	116	Lumenal (Potential).|L-type lectin-like.				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding				0	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGAAGTGGACGTGCATTTCC	0.617												
TRIM7	81786	broad.mit.edu	37	5	180622450	180622450	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:180622450C>T	uc003mmz.1	-	7	1319	c.1252G>A	c.(1252-1254)GTG>ATG	p.V418M	TRIM7_uc003mmv.1_Missense_Mutation_p.V236M|TRIM7_uc003mmw.1_Missense_Mutation_p.V210M|TRIM7_uc003mmx.1_Missense_Mutation_p.V210M|TRIM7_uc003mmy.1_Missense_Mutation_p.V210M	NM_203293	NP_976038	Q9C029	TRIM7_HUMAN	tripartite motif-containing 7 isoform 1	418	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)		TTTCGGCGCACGCTCTCGCGG	0.721												
EXOC2	55770	broad.mit.edu	37	6	599180	599180	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:599180C>T	uc003mtd.2	-	8	922	c.788G>A	c.(787-789)CGG>CAG	p.R263Q	EXOC2_uc003mte.2_Missense_Mutation_p.R263Q|EXOC2_uc011dho.1_Intron	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Sec5 protein	263					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)		CTTGTCTTTCCGACCTAATAC	0.338												
SYCP2L	221711	broad.mit.edu	37	6	10902994	10902994	+	Missense_Mutation	SNP	A	A	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:10902994A>T	uc003mzo.2	+	7	847	c.551A>T	c.(550-552)GAG>GTG	p.E184V	SYCP2L_uc011din.1_Missense_Mutation_p.E25V|SYCP2L_uc010jow.2_5'UTR	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	184						nucleus				ovary(1)|skin(1)	2	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CTTCAACAGGAGGTGAGTTGC	0.373												
JARID2	3720	broad.mit.edu	37	6	15497312	15497312	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:15497312G>A	uc003nbj.2	+	7	2100	c.1856G>A	c.(1855-1857)CGG>CAG	p.R619Q	JARID2_uc011diu.1_Missense_Mutation_p.R483Q|JARID2_uc011div.1_Missense_Mutation_p.R447Q|JARID2_uc011diw.1_Missense_Mutation_p.R581Q	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	619					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AAGCTGGGCCGGCGCTGGGGC	0.622												
GPLD1	2822	broad.mit.edu	37	6	24448144	24448144	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:24448144C>T	uc003ned.1	-	17	1750	c.1639G>A	c.(1639-1641)GTG>ATG	p.V547M	GPLD1_uc010jpr.1_Missense_Mutation_p.V384M|GPLD1_uc010jps.1_Missense_Mutation_p.V547M	NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	547	FG-GAP 3.					extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3						AACGCAGCCACAATTCCCTTC	0.557												
GPLD1	2822	broad.mit.edu	37	6	24450073	24450073	+	Missense_Mutation	SNP	C	C	T	rs144999503		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:24450073C>T	uc003ned.1	-	15	1501	c.1390G>A	c.(1390-1392)GTG>ATG	p.V464M	GPLD1_uc010jpr.1_Missense_Mutation_p.V301M|GPLD1_uc010jps.1_Missense_Mutation_p.V464M	NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	464	FG-GAP 2.					extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3						AGGTCAGGCACGCCGTCCACG	0.622												
FAM65B	9750	broad.mit.edu	37	6	24873113	24873113	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:24873113C>T	uc003neo.1	-	4	508	c.332G>A	c.(331-333)CGC>CAC	p.R111H	FAM65B_uc011djs.1_Missense_Mutation_p.R140H|FAM65B_uc011dju.1_Missense_Mutation_p.R145H|FAM65B_uc003nep.2_Missense_Mutation_p.R111H|FAM65B_uc011djt.1_Missense_Mutation_p.R111H	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	hypothetical protein LOC9750 isoform 1	111	Potential.|Involved in cell filopodia formation.				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			ovary(1)	1						ACCTACCAGGCGAGAGTTTCT	0.408												
SCAND3	114821	broad.mit.edu	37	6	28540659	28540659	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:28540659G>A	uc003nlo.2	-	4	3625	c.3007C>T	c.(3007-3009)CGA>TGA	p.R1003*		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1003					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						agactttctcgatgaatgaag	0												
OR14J1	442191	broad.mit.edu	37	6	29274617	29274617	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:29274617C>T	uc011dln.1	+	1	151	c.151C>T	c.(151-153)CGT>TGT	p.R51C		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 5, subfamily U member	51	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TACCGTGGACCGTCGTCTCCA	0.468												
OR2H1	26716	broad.mit.edu	37	6	29429649	29429649	+	Silent	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:29429649T>C	uc003nmi.2	+	3	546	c.103T>C	c.(103-105)TTG>CTG	p.L35L	OR2H1_uc003nmj.1_Silent_p.L35L|OR2H1_uc010jri.1_Intron	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H,	35	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TTCCTACCTCTTGACCCTGGT	0.522												
OR2H1	26716	broad.mit.edu	37	6	29429651	29429651	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:29429651G>A	uc003nmi.2	+	3	548	c.105G>A	c.(103-105)TTG>TTA	p.L35L	OR2H1_uc003nmj.1_Silent_p.L35L|OR2H1_uc010jri.1_Intron	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H,	35	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CCTACCTCTTGACCCTGGTGG	0.522												
OR2H1	26716	broad.mit.edu	37	6	29429657	29429657	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:29429657G>A	uc003nmi.2	+	3	554	c.111G>A	c.(109-111)CTG>CTA	p.L37L	OR2H1_uc003nmj.1_Silent_p.L37L|OR2H1_uc010jri.1_Intron	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H,	37	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TCTTGACCCTGGTGGGCAACA	0.527												
MDC1	9656	broad.mit.edu	37	6	30671304	30671304	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:30671304G>A	uc003nrg.3	-	11	6013	c.5573C>T	c.(5572-5574)ACT>ATT	p.T1858I	MDC1_uc003nrf.3_Missense_Mutation_p.T489I	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1858	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						TGGTTTTGGAGTCACGACATC	0.507								Other_conserved_DNA_damage_response_genes				
VARS2	57176	broad.mit.edu	37	6	30887543	30887543	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:30887543C>T	uc003nsc.1	+	11	1715	c.1083C>T	c.(1081-1083)CAC>CAT	p.H361H	VARS2_uc011dmx.1_Silent_p.H361H|VARS2_uc011dmy.1_Silent_p.H221H|VARS2_uc011dmz.1_Silent_p.H391H|VARS2_uc011dna.1_Silent_p.H361H|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_Translation_Start_Site|VARS2_uc010jsg.1_Translation_Start_Site	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	361					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						AGCATCTACACGGGCGACAGC	0.592												
TCF19	6941	broad.mit.edu	37	6	31129358	31129358	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:31129358C>T	uc003nss.2	+	3	897	c.373C>T	c.(373-375)CGA>TGA	p.R125*	TCF19_uc003nst.2_Nonsense_Mutation_p.R125*	NM_001077511	NP_001070979	Q9Y242	TCF19_HUMAN	transcription factor 19	125					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CCAACAAGTACGAGTCAAGCC	0.597												
C2	717	broad.mit.edu	37	6	31868847	31868847	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:31868847C>T	uc011dop.1	+	1	72	c.4C>T	c.(4-6)CGT>TGT	p.R2C	C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|ZBTB12_uc003nyd.1_Missense_Mutation_p.R79H	NM_001145903	NP_001139375	P06681	CO2_HUMAN	complement component 2 isoform 2 preproprotein	Error:Variant_position_missing_in_P06681_after_alignment					complement activation, classical pathway|innate immune response|proteolysis	extracellular space	serine-type endopeptidase activity			ovary(1)|skin(1)	2		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GGCCACGATGCGTGCACTGTG	0.612												
BAK1	578	broad.mit.edu	37	6	33541918	33541918	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:33541918C>T	uc003oes.2	-	5	724	c.424G>A	c.(424-426)GTC>ATC	p.V142I	BAK1_uc003oer.2_Missense_Mutation_p.V72I|BAK1_uc003oet.2_RNA|BAK1_uc010jvb.2_Missense_Mutation_p.V142I|BAK1_uc003oeu.2_Missense_Mutation_p.V83I	NM_001188	NP_001179	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	142					activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity			ovary(1)	1						TGCTGGTAGACGTGTAGGGCC	0.597												
GRM4	2914	broad.mit.edu	37	6	34029714	34029714	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:34029714C>T	uc003oir.3	-	3	998	c.828G>A	c.(826-828)TCG>TCA	p.S276S	GRM4_uc011dsn.1_Silent_p.S276S|GRM4_uc010jvh.2_Silent_p.S276S|GRM4_uc010jvi.2_5'UTR|GRM4_uc003oio.2_5'UTR|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.S136S|GRM4_uc003oiq.2_Silent_p.S143S|GRM4_uc011dsm.1_Silent_p.S107S	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	276	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)	CCCTGGCGTTCGAAGTCTCCA	0.632												
HMGA1	3159	broad.mit.edu	37	6	34210525	34210525	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:34210525C>T	uc003oit.2	+	4	494	c.172C>T	c.(172-174)CGG>TGG	p.R58W	HMGA1_uc011dso.1_Missense_Mutation_p.R58W|HMGA1_uc003oiv.2_Missense_Mutation_p.R47W|HMGA1_uc003oiw.2_Missense_Mutation_p.R47W|HMGA1_uc003oiu.2_Missense_Mutation_p.R58W|HMGA1_uc003oiy.2_Missense_Mutation_p.R47W|HMGA1_uc003oiz.2_Missense_Mutation_p.R58W|HMGA1_uc003oja.2_Missense_Mutation_p.R47W|HMGA1_uc003oix.2_Missense_Mutation_p.R47W|HMGA1_uc010jvl.2_Intron|HMGA1_uc003ojc.2_Missense_Mutation_p.R47W|HMGA1_uc011dsp.1_RNA|HMGA1_uc003ojd.2_Missense_Mutation_p.R46W	NM_145899	NP_665906	P17096	HMGA1_HUMAN	high mobility group AT-hook 1 isoform a	58	Interaction with HIPK2 (By similarity).|A.T hook 2.			R->A: Decreases methylation by PRMT6. Abolishes methylation by PRMT6; when associated with A-60.	DNA unwinding involved in replication|initiation of viral infection|interspecies interaction between organisms|loss of chromatin silencing|nucleosome disassembly|protein complex assembly|provirus integration	chromatin|cytosol|transcription factor complex	AT DNA binding|enzyme binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|protein binding|retinoid X receptor binding|sequence-specific DNA binding transcription factor activity				0						TAAGAGACCTCGGGGCCGACC	0.562			T	?	microfollicular thyroid adenoma| various benign mesenchymal tumors,							
ZNF76	7629	broad.mit.edu	37	6	35259413	35259413	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:35259413G>A	uc003oki.1	+	9	1035	c.830G>A	c.(829-831)CGC>CAC	p.R277H	ZNF76_uc011dsy.1_Missense_Mutation_p.R277H|ZNF76_uc011dsz.1_Missense_Mutation_p.R277H|ZNF76_uc003okj.1_Missense_Mutation_p.R277H	NM_003427	NP_003418	P36508	ZNF76_HUMAN	zinc finger protein 76 (expressed in testis)	277	C2H2-type 4.				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTACATGTGCGCACCCACACA	0.597												
MOCS1	4337	broad.mit.edu	37	6	39874786	39874786	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:39874786C>T	uc003opb.2	-	10	1396	c.1258G>A	c.(1258-1260)GTG>ATG	p.V420M	MOCS1_uc003opa.2_3'UTR|MOCS1_uc003opc.2_Missense_Mutation_p.V404M|MOCS1_uc003opd.2_3'UTR|MOCS1_uc003ope.2_Missense_Mutation_p.V317M	NM_005942	NP_005933	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis-step 1 protein	420	Molybdenum cofactor biosynthesis protein C.				Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			ovary(1)|liver(1)|central_nervous_system(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					AAAGTGGCCACCTGGCTGGAG	0.567												
USP49	25862	broad.mit.edu	37	6	41774419	41774419	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:41774419C>T	uc003ori.2	-	4	525	c.303G>A	c.(301-303)GCG>GCA	p.A101A		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	ubiquitin thioesterase 49	101					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGCCCCGGACCGCCAGGAGGG	0.627												
CUL7	9820	broad.mit.edu	37	6	43019980	43019980	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:43019980G>A	uc003otq.2	-	2	850	c.547C>T	c.(547-549)CGG>TGG	p.R183W	CUL7_uc011dvb.1_Missense_Mutation_p.R235W|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	183					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)			TGTATCATCCGGCCTGCACTC	0.572												
TMEM63B	55362	broad.mit.edu	37	6	44116118	44116118	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:44116118G>A	uc003owr.2	+	13	1181	c.1117G>A	c.(1117-1119)GCC>ACC	p.A373T	TMEM63B_uc003owq.1_Missense_Mutation_p.A373T|TMEM63B_uc003ows.2_Missense_Mutation_p.A276T|TMEM63B_uc010jyz.2_RNA	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	373						integral to membrane	nucleotide binding|protein binding			pancreas(2)|central_nervous_system(1)	3	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			GACTATCACCGCCATGTGAGT	0.597												
TMEM63B	55362	broad.mit.edu	37	6	44122158	44122158	+	Silent	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:44122158T>C	uc003owr.2	+	23	2347	c.2283T>C	c.(2281-2283)ACT>ACC	p.T761T	TMEM63B_uc003ows.2_Silent_p.T664T|TMEM63B_uc010jyz.2_RNA	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	761						integral to membrane	nucleotide binding|protein binding			pancreas(2)|central_nervous_system(1)	3	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			GGCCCCCCACTGCTGCTGCTG	0.592												
RHAG	6005	broad.mit.edu	37	6	49586939	49586939	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:49586939C>A	uc003ozk.3	-	2	356	c.294G>T	c.(292-294)CAG>CAT	p.Q98H	RHAG_uc010jzl.2_Missense_Mutation_p.Q98H|RHAG_uc010jzm.2_Missense_Mutation_p.Q98H	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	98	Helical; (Potential).				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|skin(1)	2	Lung NSC(77;0.0255)					GCAGGATTCCCTGTACAATAG	0.373												
GSTA1	2938	broad.mit.edu	37	6	52661013	52661013	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:52661013T>C	uc003paz.2	-	4	351	c.239A>G	c.(238-240)AAC>AGC	p.N80S		NM_145740	NP_665683	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	80	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)	1	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	CCCATAGAGGTTGTATTTGCT	0.448												
FAM83B	222584	broad.mit.edu	37	6	54805455	54805455	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:54805455C>T	uc003pck.2	+	5	1802	c.1686C>T	c.(1684-1686)GGC>GGT	p.G562G		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	562										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)					GTACAACTGGCTCCTCAAATT	0.438												
FAM83B	222584	broad.mit.edu	37	6	54805606	54805606	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:54805606A>G	uc003pck.2	+	5	1953	c.1837A>G	c.(1837-1839)ACC>GCC	p.T613A		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	613										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)					AAAAATGCACACCTTGCAGGT	0.428												
FAM135A	57579	broad.mit.edu	37	6	71162259	71162259	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:71162259T>A	uc003pfj.2	+	3	275	c.142T>A	c.(142-144)TTG>ATG	p.L48M	FAM135A_uc003pfi.2_Missense_Mutation_p.L48M|FAM135A_uc003pfh.2_Intron|FAM135A_uc003pfk.2_Missense_Mutation_p.L48M|FAM135A_uc003pfl.2_Translation_Start_Site	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	hypothetical protein LOC57579 isoform c	48										central_nervous_system(1)	1						AGAAGCTAGTTTGTTGCATGC	0.294												
B3GAT2	135152	broad.mit.edu	37	6	71665875	71665875	+	Silent	SNP	C	C	T	rs147151504		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:71665875C>T	uc003pfv.2	-	1	914	c.258G>A	c.(256-258)ACG>ACA	p.T86T	B3GAT2_uc011dxz.1_RNA|B3GAT2_uc003pfw.2_Silent_p.T86T	NM_080742	NP_542780	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	86	Lumenal (Potential).				carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						TGTAGGTGGGCGTGATGGCAT	0.706												
EEF1A1	1915	broad.mit.edu	37	6	74228320	74228320	+	Silent	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:74228320A>G	uc003phi.2	-	5	823	c.786T>C	c.(784-786)GTT>GTC	p.V262V	EEF1A1_uc003phd.2_5'UTR|EEF1A1_uc003phe.2_Silent_p.V252V|EEF1A1_uc003phf.2_Silent_p.V262V|EEF1A1_uc003phg.2_Silent_p.V262V|EEF1A1_uc003phh.2_Silent_p.V108V|EEF1A1_uc003phj.2_Silent_p.V262V|EEF1A1_uc003phk.2_Silent_p.V262V|EEF1A1_uc003phl.2_Intron|EEF1A1_uc003phm.1_Intron	NM_001402	NP_001393	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha	262						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0						GGCCAACAGGAACAGTACCAA	0.418											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
COL12A1	1303	broad.mit.edu	37	6	75839937	75839937	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:75839937C>T	uc003phs.2	-	37	6246	c.6080G>A	c.(6079-6081)GGA>GAA	p.G2027E	COL12A1_uc003pht.2_Missense_Mutation_p.G863E	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2027	Fibronectin type-III 16.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						GTTCCTTGGTCCACTGCGTGG	0.438												
IMPG1	3617	broad.mit.edu	37	6	76640734	76640734	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:76640734G>A	uc003pik.1	-	15	2309	c.2179C>T	c.(2179-2181)CCA>TCA	p.P727S		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	727					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CAGAGGCCTGGTTCCAGACCG	0.572												
HTR1B	3351	broad.mit.edu	37	6	78172202	78172202	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:78172202C>T	uc003pil.1	-	1	919	c.919G>A	c.(919-921)GCT>ACT	p.A307T		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	307	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity				0		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	CGCTCCCTAGCGGCCATGAGT	0.532												
HTR1B	3351	broad.mit.edu	37	6	78172495	78172495	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:78172495G>A	uc003pil.1	-	1	626	c.626C>T	c.(625-627)ACG>ATG	p.T209M		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	209	Helical; Name=5; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity				0		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	GGAGTAGACCGTGTAGAGGAT	0.577												
MDN1	23195	broad.mit.edu	37	6	90397120	90397120	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:90397120C>A	uc003pnn.1	-	68	11509	c.11393G>T	c.(11392-11394)CGG>CTG	p.R3798L		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	3798					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAGATGTTTCCGCAAAGACAA	0.403												
MDN1	23195	broad.mit.edu	37	6	90402222	90402222	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:90402222G>A	uc003pnn.1	-	63	10643	c.10527C>T	c.(10525-10527)CAC>CAT	p.H3509H		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	3509					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGCATAACACGTGGGAGCGCA	0.597												
MDN1	23195	broad.mit.edu	37	6	90428683	90428683	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:90428683G>A	uc003pnn.1	-	42	6240	c.6124C>T	c.(6124-6126)CTG>TTG	p.L2042L		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2042					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GACTGGTGCAGGAGCAACAGG	0.567												
RTN4IP1	84816	broad.mit.edu	37	6	107035691	107035691	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:107035691C>T	uc003prj.2	-	7	1330	c.853G>A	c.(853-855)GCT>ACT	p.A285T	RTN4IP1_uc010kdd.2_Intron|RTN4IP1_uc003prk.2_Missense_Mutation_p.A185T	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1 precursor	285						mitochondrion	oxidoreductase activity|zinc ion binding				0	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		AAATCTGGAGCCCATGTTTCA	0.448												
AKD1	221264	broad.mit.edu	37	6	109816558	109816558	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:109816558G>A	uc003ptn.2	-	39	5478	c.5401C>T	c.(5401-5403)CCT>TCT	p.P1801S	AKD1_uc011eas.1_Missense_Mutation_p.P186S	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	1801					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1						AGATATCCAGGCAAAGGAAGA	0.368												
CDC40	51362	broad.mit.edu	37	6	110538952	110538952	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:110538952C>T	uc003pua.2	+	10	1060	c.1036C>T	c.(1036-1038)CAG>TAG	p.Q346*		NM_015891	NP_056975	O60508	PRP17_HUMAN	cell division cycle 40 homolog	346	WD 2.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm					0		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		TGCAGGAACACAGTTCCTCAG	0.408												
C6orf186	728464	broad.mit.edu	37	6	110620349	110620349	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:110620349C>A	uc010kdu.1	-	4	562	c.562G>T	c.(562-564)GGA>TGA	p.G188*	C6orf186_uc003pub.2_Translation_Start_Site	NM_001123364	NP_001116836	Q5JXM2	CF186_HUMAN	chromosome 6 open reading frame 186 precursor	188						extracellular region					0						TCATCACTTCCTAGCCTATAA	0.418												
FYN	2534	broad.mit.edu	37	6	111983105	111983105	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:111983105C>A	uc003pvj.2	-	13	1791	c.1451G>T	c.(1450-1452)AGG>ATG	p.R484M	FYN_uc003pvi.2_Missense_Mutation_p.R429M|FYN_uc003pvk.2_Missense_Mutation_p.R484M|FYN_uc003pvh.2_Missense_Mutation_p.R481M	NM_002037	NP_002028	P06241	FYN_HUMAN	protein-tyrosine kinase fyn isoform a	484	Protein kinase.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|central_nervous_system(1)|skin(1)	7		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	GCAGGGCATCCTGTAGCCTCG	0.607												
LAMA4	3910	broad.mit.edu	37	6	112455712	112455712	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:112455712C>A	uc003pvu.2	-	26	3823	c.3514G>T	c.(3514-3516)GAT>TAT	p.D1172Y	LAMA4_uc003pvv.2_Missense_Mutation_p.D1165Y|LAMA4_uc003pvt.2_Missense_Mutation_p.D1165Y	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	1172	Laminin G-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ATGTATATATCTGTAAAAGGT	0.373												
TSPYL4	23270	broad.mit.edu	37	6	116574172	116574172	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:116574172G>A	uc003pwn.2	-	1	1090	c.1000C>T	c.(1000-1002)CGA>TGA	p.R334*	DSE_uc011ebf.1_5'Flank|TSPYL4_uc011ebe.1_Nonsense_Mutation_p.R162*|uc003pwo.1_5'Flank	NM_021648	NP_067680	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	334					nucleosome assembly	nucleus					0		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		TCTTGGCCTCGGTGCCAGCGG	0.532												
GOPC	57120	broad.mit.edu	37	6	117884469	117884469	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:117884469C>T	uc003pxu.2	-	9	1567	c.1337G>A	c.(1336-1338)GGT>GAT	p.G446D	GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxs.2_Intron|GOPC_uc003pxv.2_Missense_Mutation_p.G438D	NM_020399	NP_065132	Q9HD26	GOPC_HUMAN	golgi associated PDZ and coiled-coil motif	446					apical protein localization|cytoplasmic sequestering of CFTR protein|ER to Golgi vesicle-mediated transport|Golgi to plasma membrane transport|protein homooligomerization|protein transport	cell junction|dendrite|Golgi membrane|postsynaptic density|postsynaptic membrane|trans-Golgi network transport vesicle	cystic fibrosis transmembrane conductance regulator binding			ovary(1)	1		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		TTTTGAAGCACCGTCATCTAG	0.353			O	ROS1	glioblastoma							
TPD52L1	7164	broad.mit.edu	37	6	125541338	125541338	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:125541338A>G	uc003pzu.1	+	2	353	c.134A>G	c.(133-135)CAG>CGG	p.Q45R	TPD52L1_uc003pzv.1_Missense_Mutation_p.Q45R|TPD52L1_uc003pzw.1_Missense_Mutation_p.Q45R|TPD52L1_uc003pzx.1_Missense_Mutation_p.Q16R|TPD52L1_uc003pzy.1_Missense_Mutation_p.Q16R|TPD52L1_uc003pzz.1_Missense_Mutation_p.Q16R	NM_003287	NP_003278	Q16890	TPD53_HUMAN	tumor protein D52-like 1 isoform 1	45	Potential.				DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		GAGTTAGTTCAGGTATGTTTA	0.353												
LAMA2	3908	broad.mit.edu	37	6	129785509	129785509	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:129785509G>A	uc003qbn.2	+	49	7172	c.7067G>A	c.(7066-7068)CGC>CAC	p.R2356H	LAMA2_uc003qbo.2_Missense_Mutation_p.R2356H	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2356	Laminin G-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CGTCCCATTCGCTGGTACCCC	0.448												
HBS1L	10767	broad.mit.edu	37	6	135317929	135317929	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:135317929G>A	uc003qez.2	-	7	1158	c.951C>T	c.(949-951)GGC>GGT	p.G317G	HBS1L_uc003qey.2_Silent_p.G153G|HBS1L_uc011ecy.1_Silent_p.G41G|HBS1L_uc011ecz.1_Silent_p.G153G|HBS1L_uc011eda.1_Silent_p.G275G	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN	Hsp70 subfamily B suppressor 1-like protein	317					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)		CCCTTTCTTCGCCAGTTTCAT	0.333												
MAP7	9053	broad.mit.edu	37	6	136687112	136687112	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:136687112G>A	uc003qgz.2	-	10	1280	c.1034C>T	c.(1033-1035)CCG>CTG	p.P345L	MAP7_uc011edf.1_Missense_Mutation_p.P330L|MAP7_uc011edg.1_Missense_Mutation_p.P375L|MAP7_uc010kgu.2_Missense_Mutation_p.P367L|MAP7_uc011edh.1_Missense_Mutation_p.P330L|MAP7_uc010kgv.2_Missense_Mutation_p.P367L|MAP7_uc010kgs.2_Missense_Mutation_p.P199L|MAP7_uc011edi.1_Missense_Mutation_p.P199L|MAP7_uc010kgq.1_Missense_Mutation_p.P251L|MAP7_uc003qha.1_Missense_Mutation_p.P308L|MAP7_uc010kgr.2_Missense_Mutation_p.P199L	NM_003980	NP_003971	Q14244	MAP7_HUMAN	microtubule-associated protein 7	345	Pro-rich.				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity				0	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		GGAGGATGTCGGTCTGGGTGT	0.587												
IL20RA	53832	broad.mit.edu	37	6	137322794	137322794	+	Silent	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:137322794G>T	uc003qhj.2	-	7	1996	c.1563C>A	c.(1561-1563)CTC>CTA	p.L521L	IL20RA_uc011edl.1_Silent_p.L472L|IL20RA_uc003qhk.2_Silent_p.L410L|IL20RA_uc003qhi.2_Silent_p.L253L	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha precursor	521	Cytoplasmic (Potential).					integral to membrane	receptor activity			ovary(2)|skin(2)	4	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		GCTCCTCATAGAGTCTAGATA	0.527												
GRM1	2911	broad.mit.edu	37	6	146720132	146720132	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:146720132A>G	uc010khw.1	+	8	2427	c.1957A>G	c.(1957-1959)ACT>GCT	p.T653A	GRM1_uc010khv.1_Missense_Mutation_p.T653A|GRM1_uc003qll.2_Missense_Mutation_p.T653A|GRM1_uc011edz.1_Missense_Mutation_p.T653A|GRM1_uc011eea.1_Missense_Mutation_p.T653A	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	653	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TGCCAAACCTACTACCACCTC	0.517												
GRM1	2911	broad.mit.edu	37	6	146755775	146755775	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:146755775C>A	uc010khw.1	+	9	3898	c.3428C>A	c.(3427-3429)CCT>CAT	p.P1143H	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	1143	Ser-rich.|Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GATGATTCGCCTGCGCTGACG	0.662												
STXBP5	134957	broad.mit.edu	37	6	147637446	147637446	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:147637446G>A	uc003qlz.2	+	16	1866	c.1705G>A	c.(1705-1707)GTG>ATG	p.V569M	STXBP5_uc010khz.1_Missense_Mutation_p.V569M|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.V240M	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn) isoform b	569	WD 9.				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GCCAACACCCGTGGGAGGGTC	0.463												
UST	10090	broad.mit.edu	37	6	149285641	149285641	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:149285641G>A	uc003qmg.2	+	5	919	c.623G>A	c.(622-624)AGA>AAA	p.R208K	uc003qmh.1_Intron	NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	208	Lumenal (Potential).				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			ovary(2)	2		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		GGAGACTGGAGAGGGGAACAA	0.532												
PNLDC1	154197	broad.mit.edu	37	6	160230165	160230165	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:160230165T>C	uc003qsx.1	+	9	896	c.725T>C	c.(724-726)TTC>TCC	p.F242S	PNLDC1_uc003qsy.1_Missense_Mutation_p.F253S	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain	242	Cytoplasmic (Potential).					integral to membrane|nucleus	nucleic acid binding				0		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TCTGTCTTTTTCCAAATGCTG	0.413												
PARK2	5071	broad.mit.edu	37	6	161990428	161990428	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:161990428T>A	uc003qtx.3	-	8	1026	c.892A>T	c.(892-894)ATT>TTT	p.I298F	PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Missense_Mutation_p.I107F|PARK2_uc003qtw.3_Missense_Mutation_p.I107F|PARK2_uc003qty.3_Missense_Mutation_p.I270F|PARK2_uc003qtz.3_Missense_Mutation_p.I149F|PARK2_uc010kke.1_Missense_Mutation_p.I317F|PARK2_uc011egf.1_5'UTR	NM_004562	NP_004553	O60260	PRKN2_HUMAN	parkin isoform 1	298					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		AGCTCTTTAATCAAGGAGTTG	0.423												
THBS2	7058	broad.mit.edu	37	6	169629684	169629684	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:169629684C>T	uc003qwt.2	-	15	2490	c.2242G>A	c.(2242-2244)GGT>AGT	p.G748S		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	748	TSP type-3 2.				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)		TCGGTCACACCGTCATTGTCA	0.562												
THBS2	7058	broad.mit.edu	37	6	169632789	169632789	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:169632789G>A	uc003qwt.2	-	13	2150	c.1902C>T	c.(1900-1902)GTC>GTT	p.V634V		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	634	EGF-like 2; calcium-binding (Potential).				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)		CTTCCAGGCCGACCCCGACGG	0.602												
DLL1	28514	broad.mit.edu	37	6	170592160	170592160	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:170592160C>T	uc003qxm.2	-	10	2552	c.2082G>A	c.(2080-2082)TCG>TCA	p.S694S		NM_005618	NP_005609	O00548	DLL1_HUMAN	delta-like 1 precursor	694	Cytoplasmic (Potential).				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			lung(4)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TTGAACAGCCCGAGTCCGGCC	0.463												
IQCE	23288	broad.mit.edu	37	7	2625867	2625867	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:2625867G>A	uc003smo.3	+	12	1034	c.850G>A	c.(850-852)GCC>ACC	p.A284T	IQCE_uc010ksm.1_Missense_Mutation_p.A284T|IQCE_uc003sml.1_Missense_Mutation_p.A284T|IQCE_uc011jvy.1_Missense_Mutation_p.A268T|IQCE_uc011jvz.1_Missense_Mutation_p.A219T|IQCE_uc003smk.3_Missense_Mutation_p.A268T|IQCE_uc003smn.3_Missense_Mutation_p.A219T	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	IQ motif containing E isoform 1	284											0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GAAGACGGGCGCCAAAAGGCA	0.572												
CARD11	84433	broad.mit.edu	37	7	2953041	2953041	+	Missense_Mutation	SNP	G	G	A	rs149857605	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:2953041G>A	uc003smv.2	-	22	3303	c.2899C>T	c.(2899-2901)CGC>TGC	p.R967C		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	967					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)		TAGAAGGCGCGTACCAGGCTG	0.677			Mis		DLBCL							
SDK1	221935	broad.mit.edu	37	7	4011175	4011175	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:4011175A>G	uc003smx.2	+	12	1931	c.1792A>G	c.(1792-1794)ACA>GCA	p.T598A		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	598	Ig-like C2-type 6.				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)		CTGTGGTGCCACACATGACCC	0.522												
SDK1	221935	broad.mit.edu	37	7	4091419	4091419	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:4091419C>T	uc003smx.2	+	19	3007	c.2868C>T	c.(2866-2868)GAC>GAT	p.D956D	SDK1_uc010kso.2_Silent_p.D232D	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	956	Fibronectin type-III 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)		CCCCTGGGGACGGGCCTCCCA	0.527												
KIAA0415	9907	broad.mit.edu	37	7	4828500	4828500	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:4828500C>A	uc003sne.2	+	13	1708	c.1625C>A	c.(1624-1626)CCC>CAC	p.P542H	KIAA0415_uc010ksp.2_RNA|KIAA0415_uc003snf.2_5'UTR	NM_014855	NP_055670	O43299	K0415_HUMAN	hypothetical protein LOC9907	542					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)		CTGCTGCAGCCCATGGCCGGC	0.706												
ZDHHC4	55146	broad.mit.edu	37	7	6628377	6628377	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:6628377T>C	uc003sqi.2	+	9	1229	c.871T>C	c.(871-873)TAC>CAC	p.Y291H	ZDHHC4_uc003sql.2_Missense_Mutation_p.Y291H|ZDHHC4_uc003sqh.2_Missense_Mutation_p.Y291H|ZDHHC4_uc003sqj.2_Missense_Mutation_p.Y291H|ZDHHC4_uc003sqk.2_Missense_Mutation_p.Y291H|ZDHHC4_uc003sqm.2_Missense_Mutation_p.Y291H|uc011jwy.1_5'Flank|C7orf26_uc003sqo.1_5'Flank|C7orf26_uc003sqp.1_5'Flank|C7orf26_uc003sqq.1_5'Flank	NM_001134388	NP_001127860	Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	291						integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|pancreas(1)	2		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TAACGAGTGGTACAGAGGTGA	0.592												
THSD7A	221981	broad.mit.edu	37	7	11521445	11521445	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:11521445G>A	uc003ssf.3	-	7	2239	c.1987C>T	c.(1987-1989)CGA>TGA	p.R663*		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	663	TSP type-1 6.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AGAATGGATCGTGCTCGTATC	0.517										HNSCC(18;0.044)		
SCIN	85477	broad.mit.edu	37	7	12668733	12668733	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:12668733G>A	uc003ssn.3	+	9	1415	c.1205G>A	c.(1204-1206)CGT>CAT	p.R402H	SCIN_uc010ktt.2_RNA|SCIN_uc003sso.3_Missense_Mutation_p.R155H	NM_001112706	NP_001106177	Q9Y6U3	ADSV_HUMAN	scinderin isoform 1	402	Ca(2+)-dependent actin binding.|Gelsolin-like 4.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CAGATTTGGCGTGTAGAAAAC	0.338												
HOXA1	3198	broad.mit.edu	37	7	27135012	27135012	+	Missense_Mutation	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:27135012C>A	uc003sye.2	-	1	614	c.520G>T	c.(520-522)GCT>TCT	p.A174S	HOXA1_uc003syd.2_Intron|uc003syg.2_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	homeobox A1 isoform a	174						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)	3						TTATACGTAGCCAGGGCCAGG	0.592												
HOXA13	3209	broad.mit.edu	37	7	27237864	27237864	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:27237864T>C	uc003szb.1	-	2	1149	c.1120A>G	c.(1120-1122)AGG>GGG	p.R374G	uc003szc.1_5'Flank	NM_000522	NP_000513	P31271	HXA13_HUMAN	homeobox A13	374	Homeobox.				skeletal system development	nucleus	sequence-specific DNA binding			breast(1)	1						TCTTTAACCCTCCTGTTCTGG	0.418			T	NUP98	AML							
CPVL	54504	broad.mit.edu	37	7	29134756	29134756	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:29134756G>A	uc003szv.2	-	5	525	c.406C>T	c.(406-408)CGT>TGT	p.R136C	CPVL_uc003szw.2_Missense_Mutation_p.R136C|CPVL_uc003szx.2_Missense_Mutation_p.R136C	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	serine carboxypeptidase vitellogenic-like	136					proteolysis		protein binding|serine-type carboxypeptidase activity			ovary(2)	2						TCTCTGTCACGCACTGTGAAA	0.547												
NOD1	10392	broad.mit.edu	37	7	30492371	30492371	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:30492371G>A	uc003tav.2	-	6	1185	c.662C>T	c.(661-663)ACG>ATG	p.T221M	NOD1_uc010kvs.2_Intron	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	221	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			ovary(1)|skin(1)	2						TAGCCGGCCCGTGGCCCAGAG	0.592												
ADCYAP1R1	117	broad.mit.edu	37	7	31124942	31124942	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:31124942G>A	uc003tca.1	+	9	777	c.554G>A	c.(553-555)CGC>CAC	p.R185H	ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.R164H|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.R185H|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.R185H|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.R185H|ADCYAP1R1_uc003tcf.1_5'Flank	NM_001118	NP_001109	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1	185	Cytoplasmic (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			ovary(1)	1						CACTGCACACGCAACTTCATC	0.542												
GLI3	2737	broad.mit.edu	37	7	42005764	42005764	+	Silent	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:42005764G>T	uc011kbh.1	-	15	2998	c.2907C>A	c.(2905-2907)GCC>GCA	p.A969A	GLI3_uc011kbg.1_Silent_p.A910A	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	969					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			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						CTGGAGGCAGGGCCACGCCAG	0.741									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
HECW1	23072	broad.mit.edu	37	7	43484841	43484841	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:43484841G>A	uc003tid.1	+	11	2675	c.2070G>A	c.(2068-2070)ACG>ACA	p.T690T	HECW1_uc011kbi.1_Silent_p.T690T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	690	Cys-rich.				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						GCTACAGCACGTCCTGCTACA	0.652												
NPC1L1	29881	broad.mit.edu	37	7	44571767	44571767	+	Missense_Mutation	SNP	G	G	A	rs151211428		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:44571767G>A	uc003tlb.2	-	9	2515	c.2459C>T	c.(2458-2460)CCG>CTG	p.P820L	NPC1L1_uc003tlc.2_Missense_Mutation_p.P820L|NPC1L1_uc011kbw.1_Missense_Mutation_p.P820L	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	820	Cytoplasmic (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)	CTGGCCAGGCGGGGGCAGCTC	0.642												
ZMIZ2	83637	broad.mit.edu	37	7	44801116	44801116	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:44801116C>T	uc003tlr.2	+	10	1432	c.1309C>T	c.(1309-1311)CGC>TGC	p.R437C	ZMIZ2_uc003tlq.2_Missense_Mutation_p.R379C|ZMIZ2_uc003tls.2_Missense_Mutation_p.R411C|ZMIZ2_uc003tlt.2_Missense_Mutation_p.R60C|ZMIZ2_uc010kyj.2_5'UTR	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	437	Interaction with AR.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						GGAGCCCTTCCGCCTGCAGCA	0.627												
ZPBP	11055	broad.mit.edu	37	7	49977188	49977188	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:49977188C>T	uc003tou.2	-	8	1062	c.992G>A	c.(991-993)CGT>CAT	p.R331H	ZPBP_uc011kci.1_Missense_Mutation_p.R257H|ZPBP_uc010kyw.2_Missense_Mutation_p.R330H	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein isoform 1	331					binding of sperm to zona pellucida	extracellular region					0	Glioma(55;0.08)|all_neural(89;0.245)					AATTCCATCACGGGGGTTATA	0.318												
GRB10	2887	broad.mit.edu	37	7	50683938	50683938	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:50683938C>T	uc003tpi.2	-	8	984	c.953G>A	c.(952-954)GGC>GAC	p.G318D	GRB10_uc003tph.3_Missense_Mutation_p.G260D|GRB10_uc003tpj.2_Intron|GRB10_uc003tpk.2_Missense_Mutation_p.G318D|GRB10_uc010kzb.2_Missense_Mutation_p.G260D|GRB10_uc003tpl.2_Missense_Mutation_p.G312D|GRB10_uc003tpm.2_Missense_Mutation_p.G260D|GRB10_uc003tpn.2_Missense_Mutation_p.G260D	NM_005311	NP_005302	Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10 isoform	318	PH.				insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity			lung(3)|ovary(2)|upper_aerodigestive_tract(1)	6	Glioma(55;0.08)|all_neural(89;0.245)					GCAATAAAGGCCAGATCTCCG	0.473									Russell-Silver_syndrome			
LANCL2	55915	broad.mit.edu	37	7	55479657	55479657	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:55479657T>C	uc003tqp.2	+	6	1461	c.883T>C	c.(883-885)TAT>CAT	p.Y295H		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2	295					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			ovary(1)|skin(1)	2	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			CAGTATTGATTATGTGCGCCA	0.448												
ZNF713	349075	broad.mit.edu	37	7	55990944	55990944	+	Silent	SNP	C	C	T	rs147455939		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:55990944C>T	uc003trc.1	+	2	176	c.138C>T	c.(136-138)GAC>GAT	p.D46D	ZNF713_uc003tra.1_Silent_p.D59D|MRPS17_uc003trb.2_Silent_p.D46D	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	zinc finger protein 713	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCTATCGAGACGTGATGCTGG	0.512												
ASL	435	broad.mit.edu	37	7	65557802	65557802	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:65557802G>T	uc003tuo.2	+	17	1409	c.1298G>T	c.(1297-1299)AGT>ATT	p.S433I	ASL_uc003tup.2_Missense_Mutation_p.S433I|ASL_uc003tur.2_Missense_Mutation_p.S407I|ASL_uc003tuq.2_Missense_Mutation_p.S413I	NM_000048	NP_000039	P04424	ARLY_HUMAN	argininosuccinate lyase isoform 1	433					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(2)	2					L-Arginine(DB00125)	TACGGGCACAGTGTGGAGCAG	0.697												
WBSCR17	64409	broad.mit.edu	37	7	71130562	71130562	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:71130562C>T	uc003tvy.2	+	7	1247	c.1247C>T	c.(1246-1248)GCG>GTG	p.A416V	WBSCR17_uc003tvz.2_Missense_Mutation_p.A115V	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	416	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GTGTACATAGCGTGGAACCTG	0.463												
MLXIPL	51085	broad.mit.edu	37	7	73010969	73010969	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:73010969C>T	uc003tyn.1	-	11	1870	c.1822G>A	c.(1822-1824)GGC>AGC	p.G608S	MLXIPL_uc003tyj.1_Intron|MLXIPL_uc003tyk.1_Missense_Mutation_p.G608S|MLXIPL_uc003tyl.1_Missense_Mutation_p.G608S|MLXIPL_uc003tym.1_Missense_Mutation_p.G608S|MLXIPL_uc003tyo.1_Intron|MLXIPL_uc003typ.1_Missense_Mutation_p.G514S	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14	608					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTCTCTTTACCGCTGGGCGCT	0.667												
PCLO	27445	broad.mit.edu	37	7	82582682	82582682	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:82582682T>C	uc003uhx.2	-	5	7876	c.7587A>G	c.(7585-7587)ATA>ATG	p.I2529M	PCLO_uc003uhv.2_Missense_Mutation_p.I2529M|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2460	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GTTTGGGGTGTATATCTGTTG	0.448												
PCLO	27445	broad.mit.edu	37	7	82583741	82583741	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:82583741G>A	uc003uhx.2	-	5	6817	c.6528C>T	c.(6526-6528)GTC>GTT	p.V2176V	PCLO_uc003uhv.2_Silent_p.V2176V|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2107					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CAGAGGGTGGGACAGATGTAG	0.428												
SEMA3E	9723	broad.mit.edu	37	7	83029537	83029537	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:83029537G>A	uc003uhy.1	-	11	1639	c.1173C>T	c.(1171-1173)TAC>TAT	p.Y391Y		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	391	Sema.				axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)				TGGTGGTTCCGTATCTCCCTC	0.388												
COL1A2	1278	broad.mit.edu	37	7	94039080	94039080	+	Missense_Mutation	SNP	G	G	A	rs66612022		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:94039080G>A	uc003ung.1	+	19	1453	c.982G>A	c.(982-984)GGT>AGT	p.G328S	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	328			G -> S (in OI1, OI3 AND OI4).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGACCCCGCGGTATTCCTGG	0.587										HNSCC(75;0.22)		
CUX1	1523	broad.mit.edu	37	7	101755048	101755048	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:101755048C>T	uc003uyx.3	+	7	639	c.601C>T	c.(601-603)CAA>TAA	p.Q201*	CUX1_uc003uys.3_Nonsense_Mutation_p.Q212*|CUX1_uc003uyt.2_Nonsense_Mutation_p.Q212*|CUX1_uc011kkn.1_Nonsense_Mutation_p.Q175*|CUX1_uc003uyw.2_Nonsense_Mutation_p.Q166*|CUX1_uc003uyv.2_Nonsense_Mutation_p.Q196*|CUX1_uc003uyu.2_Nonsense_Mutation_p.Q212*	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	201	Potential.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						TCAGAGCCTACAAACAGGTTT	0.562												
ARMC10	83787	broad.mit.edu	37	7	102738782	102738782	+	Missense_Mutation	SNP	G	G	A	rs142543653		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:102738782G>A	uc003vaw.1	+	7	1206	c.814G>A	c.(814-816)GTA>ATA	p.V272I	ARMC10_uc003vay.1_Missense_Mutation_p.V213I|ARMC10_uc003vax.1_Missense_Mutation_p.V237I|ARMC10_uc003vbb.1_Missense_Mutation_p.V178I|ARMC10_uc011kli.1_Missense_Mutation_p.V213I|ARMC10_uc010lis.1_Missense_Mutation_p.V154I|ARMC10_uc003vba.1_RNA|ARMC10_uc003vaz.1_Missense_Mutation_p.V150I	NM_031905	NP_114111	Q8N2F6	ARM10_HUMAN	SVH protein isoform a	272					regulation of growth	endoplasmic reticulum membrane|integral to membrane	binding			ovary(1)	1						TGACAGCCACGTAGCAAAGGA	0.328												
RELN	5649	broad.mit.edu	37	7	103163896	103163896	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:103163896C>T	uc003vca.2	-	47	7592	c.7432G>A	c.(7432-7434)GGG>AGG	p.G2478R	RELN_uc010liz.2_Missense_Mutation_p.G2478R	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2478	EGF-like 6.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAGCCATCCCCGATATAGACA	0.473												
MLL5	55904	broad.mit.edu	37	7	104681433	104681433	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:104681433G>A	uc003vcm.2	+	3	568	c.34G>A	c.(34-36)GCA>ACA	p.A12T	MLL5_uc010lja.1_5'UTR|MLL5_uc010ljb.1_Missense_Mutation_p.A12T|MLL5_uc003vcl.2_Missense_Mutation_p.A12T|MLL5_uc010ljc.2_Missense_Mutation_p.A12T	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	12					cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3						GGTTGATACAGCAGAGACGTC	0.408												
FOXP2	93986	broad.mit.edu	37	7	114304351	114304351	+	Silent	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:114304351A>G	uc003vhb.2	+	16	2237	c.1863A>G	c.(1861-1863)TTA>TTG	p.L621L	FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Silent_p.L646L|FOXP2_uc003vha.2_Silent_p.L529L|FOXP2_uc011kmu.1_Silent_p.L638L|FOXP2_uc011kmv.1_Silent_p.L620L|FOXP2_uc010ljz.1_Silent_p.L436L	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	621					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						AGAGCAGTTTACCTTTGCTAA	0.388												
RNF133	168433	broad.mit.edu	37	7	122338804	122338804	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:122338804C>T	uc003vkj.1	-	1	405	c.169G>A	c.(169-171)GGA>AGA	p.G57R	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	ring finger protein 133	57						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			skin(1)	1						CCAGTCTCTCCCAACTCTGAC	0.423												
GCC1	79571	broad.mit.edu	37	7	127224963	127224963	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:127224963C>T	uc003vma.2	-	1	692	c.274G>A	c.(274-276)GAG>AAG	p.E92K		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Golgi coiled-coil protein 1	92						Golgi membrane|plasma membrane	protein binding			ovary(2)	2						GTGCTATCCTCGCTGTGAGTG	0.612												
SND1	27044	broad.mit.edu	37	7	127447556	127447556	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:127447556C>T	uc003vmi.2	+	11	1397	c.1171C>T	c.(1171-1173)CGT>TGT	p.R391C	SND1_uc010lle.2_Missense_Mutation_p.R44C	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	391	Nuclear localization signal (Potential).|TNase-like 3.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						CAAGAAACTGCGTCCCCTGTA	0.358												
LRRC4	64101	broad.mit.edu	37	7	127670140	127670140	+	Missense_Mutation	SNP	T	T	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:127670140T>A	uc003vmk.2	-	2	691	c.554A>T	c.(553-555)GAG>GTG	p.E185V	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	185	LRR 5.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		AGAGATATACTCCAGCTTCTT	0.547												
SMO	6608	broad.mit.edu	37	7	128845210	128845210	+	Missense_Mutation	SNP	C	C	T	rs142599757		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:128845210C>T	uc003vor.2	+	3	984	c.704C>T	c.(703-705)GCG>GTG	p.A235V	SMO_uc003vos.2_5'Flank	NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	235	Helical; Name=1; (Potential).				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						AGCTACATCGCGGCCTTCGGG	0.677			Mis		skin basal cell 							
SMO	6608	broad.mit.edu	37	7	128845574	128845574	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:128845574C>T	uc003vor.2	+	4	1151	c.871C>T	c.(871-873)CGA>TGA	p.R291*	SMO_uc003vos.2_5'Flank	NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	291	Extracellular (Potential).				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						TGGTGCCCGCCGAGAGATCGT	0.577			Mis		skin basal cell 							
PLXNA4	91584	broad.mit.edu	37	7	132192529	132192530	+	Missense_Mutation	DNP	GC	GC	AA	rs149257060		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:132192529_132192530GC>AA	uc003vra.3	-	2	1152_1153	c.923_924GC>TT	c.(922-924)CGC>CTT	p.R308L	PLXNA4_uc003vrc.2_Missense_Mutation_p.R308L|PLXNA4_uc003vrb.2_Missense_Mutation_p.R308L	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	308	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1						CCTGCAGCAGGCGGTACTCCAC	0.584												
CALD1	800	broad.mit.edu	37	7	134617839	134617839	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:134617839C>T	uc003vrz.2	+	5	778	c.319C>T	c.(319-321)CGC>TGC	p.R107C	CALD1_uc003vry.2_Missense_Mutation_p.R107C|CALD1_uc003vsa.2_Missense_Mutation_p.R107C|CALD1_uc003vsb.2_Missense_Mutation_p.R107C|CALD1_uc010lmm.2_Missense_Mutation_p.R107C|CALD1_uc011kpt.1_Intron|CALD1_uc003vsc.2_Missense_Mutation_p.R101C|CALD1_uc003vsd.2_Missense_Mutation_p.R101C|CALD1_uc011kpu.1_Missense_Mutation_p.R112C|CALD1_uc011kpv.1_Translation_Start_Site|CALD1_uc003vse.2_Translation_Start_Site	NM_033138	NP_149129	Q05682	CALD1_HUMAN	caldesmon 1 isoform 1	107	Myosin and calmodulin-binding (By similarity).				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding				0						TGAGGAAAGACGCCAAAAACG	0.552												
CALD1	800	broad.mit.edu	37	7	134635160	134635160	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:134635160G>A	uc003vrz.2	+	9	2289	c.1830G>A	c.(1828-1830)AGG>AGA	p.R610R	CALD1_uc003vry.2_Silent_p.R355R|CALD1_uc003vsa.2_Silent_p.R381R|CALD1_uc003vsb.2_Silent_p.R355R|CALD1_uc010lmm.2_Silent_p.R381R|CALD1_uc011kpt.1_Silent_p.R129R|CALD1_uc003vsc.2_Silent_p.R375R|CALD1_uc003vsd.2_Silent_p.R349R|CALD1_uc011kpu.1_Silent_p.R360R|CALD1_uc011kpv.1_Silent_p.R219R|CALD1_uc003vse.2_Silent_p.R474R	NM_033138	NP_149129	Q05682	CALD1_HUMAN	caldesmon 1 isoform 1	610	Tropomyosin-binding (Potential).				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding				0						AGATTGAAAGGCGAAGAGCAG	0.458												
DENND2A	27147	broad.mit.edu	37	7	140285478	140285478	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:140285478T>C	uc010lnj.2	-	3	1301	c.1156A>G	c.(1156-1158)ATC>GTC	p.I386V	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.I386V|DENND2A_uc003vvw.2_Missense_Mutation_p.I386V|DENND2A_uc003vvx.2_Missense_Mutation_p.I386V	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	386										ovary(3)|breast(1)	4	Melanoma(164;0.00956)					TGTAACTCGATGTCCTCATAA	0.488												
SSBP1	6742	broad.mit.edu	37	7	141443711	141443711	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:141443711G>A	uc003vwo.1	+	5	314	c.236G>A	c.(235-237)AGT>AAT	p.S79N	SSBP1_uc011kri.1_Missense_Mutation_p.S79N|SSBP1_uc010lnp.1_Missense_Mutation_p.S79N	NM_003143	NP_003134	Q04837	SSBP_HUMAN	single-stranded DNA binding protein 1 precursor	79	SSB.				DNA replication|positive regulation of helicase activity	mitochondrial nucleoid	single-stranded DNA binding			ovary(1)	1	Melanoma(164;0.0171)					GGTGATGTCAGTCAAAAGACA	0.408												
NOBOX	135935	broad.mit.edu	37	7	144098304	144098304	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:144098304G>A	uc011kue.1	-	4	679	c.679C>T	c.(679-681)CGT>TGT	p.R227C		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	227					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			ovary(1)	1	Melanoma(164;0.14)					TGTGTGGCACGGGCTGAGTTA	0.597												
CNTNAP2	26047	broad.mit.edu	37	7	147092805	147092805	+	Missense_Mutation	SNP	G	G	A	rs76475298	by1000genomes	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:147092805G>A	uc003weu.1	+	10	2119	c.1603G>A	c.(1603-1605)GAA>AAA	p.E535K		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	535	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)			AAATTTATACGAAGTGGCACA	0.438										HNSCC(39;0.1)		
ZNF777	27153	broad.mit.edu	37	7	149129019	149129019	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:149129019C>T	uc003wfv.2	-	6	2507	c.2344G>A	c.(2344-2346)GAG>AAG	p.E782K		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	Error:Variant_position_missing_in_Q9ULD5_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TTGCCGCACTCGGCGCAGTGG	0.692												
ZNF777	27153	broad.mit.edu	37	7	149129035	149129035	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:149129035C>T	uc003wfv.2	-	6	2491	c.2328G>A	c.(2326-2328)CGG>CGA	p.R776R		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	Error:Variant_position_missing_in_Q9ULD5_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGTGGTAGGGCCGCTCGCCTG	0.706												
ABCB8	11194	broad.mit.edu	37	7	150732996	150732996	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:150732996G>A	uc003wil.3	+	8	1099	c.1006G>A	c.(1006-1008)GAG>AAG	p.E336K	ABCB8_uc003wii.2_Missense_Mutation_p.E356K|ABCB8_uc003wij.3_Missense_Mutation_p.E319K|ABCB8_uc010lpw.1_Missense_Mutation_p.R184Q|ABCB8_uc010lpx.2_Missense_Mutation_p.E319K|ABCB8_uc011kvd.1_Missense_Mutation_p.E231K|ABCB8_uc003wim.3_Missense_Mutation_p.E114K|ABCB8_uc003wik.3_Missense_Mutation_p.E319K	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	336	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)		CGTAGCAGACGAGGCCCTGGG	0.617												
CDK5	1020	broad.mit.edu	37	7	150751541	150751541	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:150751541G>A	uc003wir.1	-	10	723	c.662C>T	c.(661-663)ACG>ATG	p.T221M		NM_004935	NP_004926	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5 isoform 1	221	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity			lung(1)|central_nervous_system(1)	2		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		CTCGGTGGGCGTCCCCAGCAG	0.597												
SLC4A2	6522	broad.mit.edu	37	7	150771346	150771346	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:150771346G>A	uc003wit.3	+	17	3012	c.2756G>A	c.(2755-2757)CGC>CAC	p.R919H	SLC4A2_uc011kve.1_Missense_Mutation_p.R910H|SLC4A2_uc003wiu.3_Missense_Mutation_p.R905H|SLC4A2_uc003wiv.3_Missense_Mutation_p.R113H	NM_003040	NP_003031	P04920	B3A2_HUMAN	solute carrier family 4, anion exchanger, member	919	Membrane (anion exchange).|Cytoplasmic (Potential).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCTTCCTGCGCAAATTCAAG	0.652												
MLL3	58508	broad.mit.edu	37	7	151879075	151879075	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:151879075G>A	uc003wla.2	-	36	6089	c.5870C>T	c.(5869-5871)ACG>ATG	p.T1957M	MLL3_uc003wkz.2_Missense_Mutation_p.T1018M	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1957	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ATTATTTGTCGTGGAAGAAGA	0.453			N		medulloblastoma							
CNPY1	285888	broad.mit.edu	37	7	155301590	155301590	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:155301590G>A	uc003wmc.1	-	2	288	c.143C>T	c.(142-144)GCG>GTG	p.A48V		NM_001103176	NP_001096646	Q3B7I2	CNPY1_HUMAN	canopy 1 homolog	48											0	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		AGAGCTTACCGCAAATTTCAA	0.343												
RBM33	155435	broad.mit.edu	37	7	155503962	155503962	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:155503962G>A	uc010lqk.1	+	8	1382	c.1014G>A	c.(1012-1014)CCG>CCA	p.P338P	RBM33_uc011kvv.1_Silent_p.P147P	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	338	Pro-rich.						nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		TGTTCCAGCCGCAGCCGCTGC	0.642												
FBXO25	26260	broad.mit.edu	37	8	418731	418731	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:418731G>A	uc003wox.2	+	11	1297	c.1031G>A	c.(1030-1032)TGC>TAC	p.C344Y	FBXO25_uc003woy.2_Missense_Mutation_p.C335Y|FBXO25_uc003woz.2_Missense_Mutation_p.C268Y|FBXO25_uc003wpa.2_Missense_Mutation_p.C118Y	NM_183421	NP_904357	Q8TCJ0	FBX25_HUMAN	F-box only protein 25 isoform 1	344						nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity			lung(1)	1		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		GGACACCCCTGCACGGCGGCC	0.617												
MYOM2	9172	broad.mit.edu	37	8	2041865	2041865	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:2041865G>A	uc003wpx.3	+	17	2210	c.2072G>A	c.(2071-2073)GGG>GAG	p.G691E	MYOM2_uc011kwi.1_Missense_Mutation_p.G116E	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	691	Fibronectin type-III 3.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AATGCTGTGGGGATGAGTGAA	0.527												
RP1L1	94137	broad.mit.edu	37	8	10468839	10468839	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:10468839G>A	uc003wtc.2	-	4	2998	c.2769C>T	c.(2767-2769)TCC>TCT	p.S923S		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	923					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		TCTTCTCCTCGGACAGCCCCC	0.697												
RP1L1	94137	broad.mit.edu	37	8	10470600	10470600	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:10470600C>T	uc003wtc.2	-	4	1237	c.1008G>A	c.(1006-1008)ACG>ACA	p.T336T		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	336					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		ACCATAGGAGCGTGTCCTCGC	0.642												
NEIL2	252969	broad.mit.edu	37	8	11637219	11637219	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:11637219C>T	uc003wug.2	+	3	926	c.251C>T	c.(250-252)GCG>GTG	p.A84V	NEIL2_uc003wue.2_Missense_Mutation_p.A84V|NEIL2_uc003wuf.2_Missense_Mutation_p.A23V|NEIL2_uc011kxd.1_Intron	NM_145043	NP_659480	Q969S2	NEIL2_HUMAN	nei like 2 isoform a	84					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding				0	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		GAAGGGGCTGCGGACCCAAAG	0.557								BER_DNA_glycosylases				
NEIL2	252969	broad.mit.edu	37	8	11643696	11643696	+	Missense_Mutation	SNP	G	G	A	rs139505292	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:11643696G>A	uc003wug.2	+	5	1588	c.913G>A	c.(913-915)GAA>AAA	p.E305K	NEIL2_uc003wue.2_Missense_Mutation_p.E305K|NEIL2_uc003wuf.2_Missense_Mutation_p.E244K|NEIL2_uc011kxd.1_Missense_Mutation_p.E189K	NM_145043	NP_659480	Q969S2	NEIL2_HUMAN	nei like 2 isoform a	305	FPG-type.				base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding				0	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		GTTTGGGCCCGAAGATGGGTT	0.612								BER_DNA_glycosylases				
LONRF1	91694	broad.mit.edu	37	8	12586437	12586437	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:12586437G>A	uc003wwd.1	-	10	2046	c.1983C>T	c.(1981-1983)GCC>GCT	p.A661A	LONRF1_uc011kxv.1_Silent_p.A250A|LONRF1_uc010lsp.1_Silent_p.A261A	NM_152271	NP_689484	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger	661	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			ovary(1)	1				READ - Rectum adenocarcinoma(644;0.236)		ATTCAATGTCGGCAGTGCAAT	0.423												
GFRA2	2675	broad.mit.edu	37	8	21608381	21608381	+	Silent	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:21608381A>G	uc003wzu.1	-	4	1188	c.513T>C	c.(511-513)AAT>AAC	p.N171N	GFRA2_uc003wzv.1_Silent_p.N66N|GFRA2_uc003wzw.1_Silent_p.N38N|DOK2_uc003wzx.1_Intron	NM_001495	NP_001486	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2 isoform a	171						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity				0				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		TGCAGTTGTCATTCAGGTTGC	0.617												
XPO7	23039	broad.mit.edu	37	8	21853019	21853019	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:21853019C>T	uc003xaa.3	+	21	2356	c.2254C>T	c.(2254-2256)CCA>TCA	p.P752S	XPO7_uc010lti.2_Missense_Mutation_p.P761S|XPO7_uc010ltk.2_Missense_Mutation_p.P753S	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	752					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		ATCCTATATGCCAATTCTCCA	0.398												
HR	55806	broad.mit.edu	37	8	21984985	21984985	+	Missense_Mutation	SNP	G	G	A	rs143170974	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:21984985G>A	uc003xas.2	-	3	1635	c.970C>T	c.(970-972)CGG>TGG	p.R324W	HR_uc003xat.2_Missense_Mutation_p.R324W	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	324							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CAGCAGCCCCGCTGGGTGACA	0.667												
STMN4	81551	broad.mit.edu	37	8	27097669	27097669	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:27097669G>A	uc003xfk.2	-	5	443	c.329C>T	c.(328-330)GCG>GTG	p.A110V	STMN4_uc003xfj.2_Missense_Mutation_p.A137V|STMN4_uc011lai.1_Missense_Mutation_p.A137V|STMN4_uc011laj.1_Missense_Mutation_p.A101V|STMN4_uc011lak.1_Missense_Mutation_p.A137V|STMN4_uc010luo.2_Missense_Mutation_p.A110V			Q9H169	STMN4_HUMAN	RecName: Full=Stathmin-4; AltName: Full=Stathmin-like protein B3;          Short=RB3;	110	Potential.				intracellular signal transduction					large_intestine(1)|pancreas(1)	2		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		CAGGAGCTCCGCTTCCTGGTA	0.493												
SCARA3	51435	broad.mit.edu	37	8	27516059	27516059	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:27516059G>T	uc003xga.1	+	5	513	c.372G>T	c.(370-372)CAG>CAT	p.Q124H	SCARA3_uc003xgb.1_Missense_Mutation_p.Q124H	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3 isoform 1	124	Extracellular (Potential).				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			skin(2)|ovary(1)|breast(1)	4		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		AAGCTGGGCAGCTGGGGCCAG	0.567												
KCNU1	157855	broad.mit.edu	37	8	36721991	36721991	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:36721991C>T	uc010lvw.2	+	19	2048	c.1961C>T	c.(1960-1962)CCG>CTG	p.P654L	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	654	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)		CAGGATTCTCCGCCAAGGGTA	0.448												
RAB11FIP1	80223	broad.mit.edu	37	8	37729675	37729675	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:37729675G>A	uc003xkm.1	-	4	2689	c.2645C>T	c.(2644-2646)GCG>GTG	p.A882V	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.A211V|RAB11FIP1_uc003xko.1_Missense_Mutation_p.A211V|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	882					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GAGGTGATCCGCTGGGGAGGC	0.607												
PLAT	5327	broad.mit.edu	37	8	42033662	42033662	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:42033662G>A	uc003xos.2	-	14	1747	c.1538C>T	c.(1537-1539)TCG>TTG	p.S513L	PLAT_uc010lxf.1_Missense_Mutation_p.S430L|PLAT_uc010lxg.1_Missense_Mutation_p.S338L|PLAT_uc003xot.2_Missense_Mutation_p.S467L|PLAT_uc011lcm.1_Missense_Mutation_p.S424L|PLAT_uc011lcn.1_Missense_Mutation_p.S387L	NM_000930	NP_000921	P00750	TPA_HUMAN	plasminogen activator, tissue isoform 1	513	Peptidase S1.	Charge relay system.			blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|skin(1)	2	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGGGCCTCCCGAATCGCCCTG	0.522												
VDAC3	7419	broad.mit.edu	37	8	42252652	42252652	+	Splice_Site	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:42252652G>A	uc011lct.1	+	4	260	c.117_splice	c.e4+1	p.V39_splice	VDAC3_uc010lxk.2_Splice_Site_p.V39_splice|VDAC3_uc003xpc.2_Splice_Site_p.V39_splice	NM_005662	NP_005653	Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3 isoform b						adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			upper_aerodigestive_tract(1)	1	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|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;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	TAGTGGAGTGGTGAGTATCTA	0.348												
ST18	9705	broad.mit.edu	37	8	53092689	53092689	+	Silent	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:53092689A>G	uc003xqz.2	-	4	426	c.270T>C	c.(268-270)TCT>TCC	p.S90S	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Silent_p.S55S|ST18_uc011lds.1_5'UTR|ST18_uc003xra.2_Silent_p.S90S|ST18_uc003xrb.2_Silent_p.S90S|ST18_uc010lyb.2_RNA	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	90						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TACCTGCGGTAGAGTGACCAT	0.517												
NPBWR1	2831	broad.mit.edu	37	8	53852517	53852517	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:53852517C>T	uc011ldu.1	+	1	50	c.50C>T	c.(49-51)CCG>CTG	p.P17L		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	17	Extracellular (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				GCATCGGGCCCGGACCCGGCG	0.711												
CHD7	55636	broad.mit.edu	37	8	61754314	61754314	+	Splice_Site	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:61754314G>A	uc003xue.2	+	20	5121	c.4644_splice	c.e20+1	p.R1548_splice		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7						central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAATGGGAGGGTGAGTAAGAA	0.393												
CHD7	55636	broad.mit.edu	37	8	61764678	61764678	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:61764678C>T	uc003xue.2	+	29	6243	c.5766C>T	c.(5764-5766)CGC>CGT	p.R1922R		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1922					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCTATCAGCGCAGCTATAAAA	0.547												
TRIM55	84675	broad.mit.edu	37	8	67064641	67064641	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:67064641G>A	uc003xvv.2	+	8	1241	c.1015G>A	c.(1015-1017)GGA>AGA	p.G339R	TRIM55_uc003xvu.2_Missense_Mutation_p.G339R|TRIM55_uc003xvw.2_Missense_Mutation_p.G339R|TRIM55_uc003xvx.2_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	tripartite motif-containing 55 isoform 1	339						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			agaagaaggcggagaaggaga	0.199												
NCOA2	10499	broad.mit.edu	37	8	71041179	71041179	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:71041179C>T	uc003xyn.1	-	17	3523	c.3361G>A	c.(3361-3363)GAT>AAT	p.D1121N	NCOA2_uc011lfb.1_Missense_Mutation_p.D209N	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1121					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)			ATGTTGGAATCCTGACTTGAG	0.448			T	RUNXBP2	AML							
KCNB2	9312	broad.mit.edu	37	8	73849334	73849334	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:73849334C>T	uc003xzb.2	+	3	2332	c.1744C>T	c.(1744-1746)CCA>TCA	p.P582S		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	582	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			AGTGGTGTGTCCACAGGAGCA	0.532												
PEX2	5828	broad.mit.edu	37	8	77896329	77896329	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:77896329A>G	uc003yax.2	-	4	544	c.86T>C	c.(85-87)CTG>CCG	p.L29P	PEX2_uc003yay.2_Missense_Mutation_p.L29P|PEX2_uc003yaz.2_Missense_Mutation_p.L29P	NM_000318	NP_000309	P28328	PEX2_HUMAN	peroxin 2	29					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			ovary(1)	1						TAGCTGCTCCAGGGCCTTGTT	0.468												
IMPA1	3612	broad.mit.edu	37	8	82572840	82572840	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:82572840G>A	uc003ych.2	-	8	756	c.629C>T	c.(628-630)GCA>GTA	p.A210V	IMPA1_uc011lfq.1_Missense_Mutation_p.A269V|IMPA1_uc011lfr.1_Missense_Mutation_p.H174Y	NM_005536	NP_005527	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1 isoform	210					inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			skin(1)	1					Lithium(DB01356)	TTCATAATATGCATCTGCTCC	0.403												
NBN	4683	broad.mit.edu	37	8	90967518	90967518	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:90967518T>C	uc003yej.1	-	10	1500	c.1390A>G	c.(1390-1392)AAA>GAA	p.K464E	NBN_uc003yei.1_Missense_Mutation_p.K382E|NBN_uc011lgb.1_Missense_Mutation_p.K464E	NM_002485	NP_002476	O60934	NBN_HUMAN	nibrin	464	Nuclear localization signal.				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			central_nervous_system(3)|kidney(3)|lung(1)	7			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GACCTTTTTTTGGTAGACGGC	0.348								Direct_reversal_of_damage|Homologous_recombination	Nijmegen_Breakage_syndrome			
KIAA1429	25962	broad.mit.edu	37	8	95539535	95539535	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:95539535G>A	uc003ygo.1	-	8	950	c.937C>T	c.(937-939)CGT>TGT	p.R313C	KIAA1429_uc003ygp.2_Missense_Mutation_p.R313C|KIAA1429_uc010maz.1_RNA	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	313	Glu-rich.				mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AATGTTTCACGTTCCAAGTCA	0.348												
DPY19L4	286148	broad.mit.edu	37	8	95796029	95796029	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:95796029A>G	uc003ygx.2	+	17	1971	c.1847A>G	c.(1846-1848)AAT>AGT	p.N616S		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	dpy-19-like 4	616						integral to membrane				ovary(2)	2	Breast(36;3.85e-06)					AGAAATGAAAATGTAAGACAT	0.368												
SDC2	6383	broad.mit.edu	37	8	97620628	97620628	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:97620628C>T	uc003yhv.1	+	4	990	c.372C>T	c.(370-372)GCC>GCT	p.A124A	SDC2_uc011lgu.1_Silent_p.A95A	NM_002998	NP_002989	P34741	SDC2_HUMAN	syndecan 2 precursor	124	Extracellular (Potential).					integral to plasma membrane	cytoskeletal protein binding|PDZ domain binding			ovary(2)	2	Breast(36;3.41e-05)				Sargramostim(DB00020)	TGGACCCAGCCGAAGAGGATA	0.453												
MTDH	92140	broad.mit.edu	37	8	98699707	98699707	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:98699707C>T	uc003yhz.2	+	4	947	c.619C>T	c.(619-621)CGT>TGT	p.R207C		NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	metadherin	207	Cytoplasmic (Potential).				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			liver(1)|central_nervous_system(1)	2	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			GCAGCGTAAACGTGATAAGGT	0.418												
VPS13B	157680	broad.mit.edu	37	8	100866034	100866034	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:100866034A>G	uc003yiv.2	+	56	10603	c.10492A>G	c.(10492-10494)AAG>GAG	p.K3498E	VPS13B_uc003yiw.2_Missense_Mutation_p.K3473E	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3498					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GGAAGAATACAAGGAAAAATG	0.393												
LRP12	29967	broad.mit.edu	37	8	105509306	105509306	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:105509306T>A	uc003yma.2	-	5	1569	c.1474A>T	c.(1474-1476)AGA>TGA	p.R492*	LRP12_uc003ymb.2_Nonsense_Mutation_p.R473*|LRP12_uc003ylz.2_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	492	Extracellular (Potential).				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GTGATGACTCTTGTAGGCACG	0.438												
CSMD3	114788	broad.mit.edu	37	8	113668504	113668504	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:113668504C>T	uc003ynu.2	-	18	3042	c.2883G>A	c.(2881-2883)TTG>TTA	p.L961L	CSMD3_uc003yns.2_Silent_p.L233L|CSMD3_uc003ynt.2_Silent_p.L921L|CSMD3_uc011lhx.1_Silent_p.L857L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	961	Extracellular (Potential).|CUB 5.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AAGATCCAAGCAAGGGTGACA	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
SLC45A4	57210	broad.mit.edu	37	8	142228905	142228905	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:142228905G>A	uc003ywd.1	-	4	989	c.681C>T	c.(679-681)CAC>CAT	p.H227H	SLC45A4_uc003ywc.1_Silent_p.H227H|SLC45A4_uc010meq.1_Silent_p.H225H	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	278					transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CAGGGACGCCGTGCGGCTCGC	0.682												
FLJ43860	389690	broad.mit.edu	37	8	142445309	142445309	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:142445309C>T	uc003ywi.2	-	29	3677	c.3596G>A	c.(3595-3597)CGC>CAC	p.R1199H	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	1199							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TAGCCGCCAGCGGAGCAGCAC	0.662												
BAI1	575	broad.mit.edu	37	8	143570403	143570403	+	Silent	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:143570403T>C	uc003ywm.2	+	14	2643	c.2460T>C	c.(2458-2460)GAT>GAC	p.D820D		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	820	Extracellular (Potential).				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CAGAGGCCGATGAAGCATCCG	0.662												
MAPK15	225689	broad.mit.edu	37	8	144804001	144804001	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:144804001G>A	uc003yzj.2	+	13	1450	c.1409G>A	c.(1408-1410)CGG>CAG	p.R470Q		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	470					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			lung(2)	2	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCCCTGATCCGGGGTGACTGG	0.582												
EPPK1	83481	broad.mit.edu	37	8	144945705	144945705	+	Missense_Mutation	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:144945705G>T	uc003zaa.1	-	1	1730	c.1717C>A	c.(1717-1719)CTG>ATG	p.L573M		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	573	Plectin 10.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCGGCTTTCAGCAGCTCTCCT	0.637												
SMARCA2	6595	broad.mit.edu	37	9	2110275	2110275	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:2110275G>A	uc003zhc.2	+	24	3413	c.3314G>A	c.(3313-3315)CGT>CAT	p.R1105H	SMARCA2_uc003zhd.2_Missense_Mutation_p.R1105H|SMARCA2_uc010mha.2_Missense_Mutation_p.R1038H	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1105	Helicase C-terminal.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TCTGAAGATCGTGCTGCTTTG	0.438												
KCNV2	169522	broad.mit.edu	37	9	2718008	2718008	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:2718008G>A	uc003zho.1	+	1	483	c.269G>A	c.(268-270)AGC>AAC	p.S90N		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	90	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)		GAGGGCCCCAGCGACCCTCCG	0.667												
UHRF2	115426	broad.mit.edu	37	9	6482085	6482085	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:6482085A>T	uc003zjy.2	+	8	1718	c.1378A>T	c.(1378-1380)AGA>TGA	p.R460*	UHRF2_uc003zjz.2_RNA|UHRF2_uc003zka.1_Nonsense_Mutation_p.R237*	NM_152896	NP_690856	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains	460	YDG.|Methyl-CpG binding and interaction with HDAC1.				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		ATCAACTTGGAGATTTAGAGT	0.398												
TYRP1	7306	broad.mit.edu	37	9	12694160	12694160	+	Missense_Mutation	SNP	G	G	A	rs139670838		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:12694160G>A	uc003zkv.3	+	2	342	c.164G>A	c.(163-165)CGC>CAC	p.R55H		NM_000550	NP_000541	P17643	TYRP1_HUMAN	tyrosinase-related protein 1 precursor	55	Lumenal, melanosome (Potential).				melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			lung(1)	1		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GGGACAGACCGCTGTGGCTCA	0.602									Oculocutaneous_Albinism			
PSIP1	11168	broad.mit.edu	37	9	15479598	15479598	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:15479598G>A	uc003zlv.3	-	7	874	c.544C>T	c.(544-546)CGA>TGA	p.R182*	PSIP1_uc003zlw.3_Nonsense_Mutation_p.R182*|PSIP1_uc003zlz.3_Nonsense_Mutation_p.R182*|PSIP1_uc003zma.3_Nonsense_Mutation_p.R173*|PSIP1_uc003zly.2_Nonsense_Mutation_p.R182*	NM_033222	NP_150091	O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1 isoform 2	182					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(1)	1				GBM - Glioblastoma multiforme(50;2.38e-06)		CCTGCAGGTCGTCCTCTTTTA	0.373												
IFNA8	3445	broad.mit.edu	37	9	21409548	21409548	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:21409548C>T	uc003zpc.1	+	1	403	c.373C>T	c.(373-375)CAG>TAG	p.Q125*		NM_002170	NP_002161	P32881	IFNA8_HUMAN	interferon, alpha 8 precursor	125					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding				0				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		CTGTGTGATGCAGGAAGTGGG	0.478												
TOPORS	10210	broad.mit.edu	37	9	32542476	32542476	+	Missense_Mutation	SNP	G	G	A	rs143249653		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:32542476G>A	uc003zrb.2	-	3	2214	c.2047C>T	c.(2047-2049)CGG>TGG	p.R683W	TOPORS_uc003zrc.2_Missense_Mutation_p.R616W	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	683	Interaction with TOP1.|Arg-rich.|Interaction with p53/TP53.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TTTCTGCTCCGTGATCTTCTT	0.388												
DNAJA1	3301	broad.mit.edu	37	9	33038834	33038834	+	Missense_Mutation	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:33038834A>G	uc003zsd.1	+	9	1310	c.1127A>G	c.(1126-1128)TAC>TGC	p.Y376C	DNAJA1_uc011lnt.1_Missense_Mutation_p.Y219C	NM_001539	NP_001530	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	376					protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		CGGCGCCACTACAATGGAGAA	0.473												
NOL6	65083	broad.mit.edu	37	9	33467247	33467247	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:33467247C>T	uc003zsz.2	-	14	1840	c.1739G>A	c.(1738-1740)CGC>CAC	p.R580H	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Missense_Mutation_p.R580H|NOL6_uc010mjv.2_Missense_Mutation_p.R577H|NOL6_uc011lob.1_Missense_Mutation_p.R528H|NOL6_uc003ztb.1_Missense_Mutation_p.R580H	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	580					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CCAGAACTGGCGGAATTTAGC	0.607											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KIAA1161	57462	broad.mit.edu	37	9	34372899	34372899	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:34372899G>A	uc003zue.3	-	2	210	c.43C>T	c.(43-45)CGC>TGC	p.R15C		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	15	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		GGCCGGCGGCGGCGGGGGTAG	0.627												
DCTN3	11258	broad.mit.edu	37	9	34617918	34617918	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:34617918T>C	uc003zux.1	-	3	267	c.232A>G	c.(232-234)ATA>GTA	p.I78V	DCTN3_uc003zuw.1_Missense_Mutation_p.I78V	NM_007234	NP_009165	O75935	DCTN3_HUMAN	dynactin 3 isoform 1	78					cytokinesis|G2/M transition of mitotic cell cycle|mitosis	centrosome|cleavage furrow|condensed chromosome kinetochore|cytosol|dynactin complex|midbody|perinuclear region of cytoplasm|spindle	protein binding|structural molecule activity				0	all_epithelial(49;0.0863)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.0388)		GCATCAGGTATGGCAATGCGG	0.478												
STOML2	30968	broad.mit.edu	37	9	35101920	35101920	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:35101920C>T	uc003zwi.2	-	4	386	c.323G>A	c.(322-324)CGC>CAC	p.R108H	STOML2_uc003zwh.2_5'UTR|STOML2_uc003zwj.2_5'UTR|STOML2_uc011lou.1_Missense_Mutation_p.R108H|STOML2_uc003zwk.2_Missense_Mutation_p.R57H	NM_013442	NP_038470	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	108						cytoskeleton	receptor binding				0			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTCCATGATGCGCAGGTAAAG	0.473												
RUSC2	9853	broad.mit.edu	37	9	35559222	35559222	+	Splice_Site	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:35559222G>T	uc003zww.2	+	9	3597	c.3342_splice	c.e9-1	p.N1114_splice	RUSC2_uc010mkq.2_Splice_Site|RUSC2_uc003zwx.3_Splice_Site_p.N1114_splice	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2							cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TCTCCCTACAGCATCCGGTCC	0.502												
NPR2	4882	broad.mit.edu	37	9	35794060	35794060	+	Missense_Mutation	SNP	G	G	A	rs114995755	by1000genomes	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:35794060G>A	uc003zyd.2	+	2	833	c.833G>A	c.(832-834)CGC>CAC	p.R278H	NPR2_uc010mlb.2_Missense_Mutation_p.R278H	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	278	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)	CAGGACAATCGCACCCGGgaa	0.378												
FBXO10	26267	broad.mit.edu	37	9	37541398	37541398	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:37541398C>T	uc004aab.2	-	2	417	c.368G>A	c.(367-369)AGT>AAT	p.S123N	FBXO10_uc004aac.2_Missense_Mutation_p.S139N|FBXO10_uc004aad.2_Intron	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	F-box protein 10	123						ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(5)	5				GBM - Glioblastoma multiforme(29;0.0107)		GGCCAAGGCACTGCCCAGGCT	0.542												
TRPM3	80036	broad.mit.edu	37	9	73152135	73152135	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:73152135C>T	uc004aid.2	-	25	4102	c.3858G>A	c.(3856-3858)TCG>TCA	p.S1286S	TRPM3_uc004ahu.2_Silent_p.S1128S|TRPM3_uc004ahv.2_Silent_p.S1088S|TRPM3_uc004ahw.2_Silent_p.S1158S|TRPM3_uc004ahx.2_Silent_p.S1145S|TRPM3_uc004ahy.2_Silent_p.S1148S|TRPM3_uc004ahz.2_Silent_p.S1135S|TRPM3_uc004aia.2_Silent_p.S1133S|TRPM3_uc004aib.2_Silent_p.S1123S|TRPM3_uc004aic.2_Silent_p.S1286S	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1311	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						TGCAGTCTGACGAGGTCCTCG	0.612												
TMC1	117531	broad.mit.edu	37	9	75369791	75369791	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:75369791C>T	uc004aiz.1	+	12	1272	c.732C>T	c.(730-732)TAC>TAT	p.Y244Y	TMC1_uc010moz.1_Silent_p.Y202Y|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Silent_p.Y98Y|TMC1_uc010mpa.1_Silent_p.Y98Y	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	244	Extracellular (Potential).				sensory perception of sound	integral to membrane				ovary(1)	1						GTGTGTTGTACGACTTCAATG	0.458												
VPS13A	23230	broad.mit.edu	37	9	79792679	79792679	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:79792679T>C	uc004akr.2	+	1	319	c.59T>C	c.(58-60)GTG>GCG	p.V20A	VPS13A_uc004akp.3_Missense_Mutation_p.V20A|VPS13A_uc004akq.3_Missense_Mutation_p.V20A|VPS13A_uc004aks.2_Missense_Mutation_p.V20A|uc011lsn.1_RNA	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	20					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						GACTATGTGGTGGACTTGGAC	0.667												
CTSL1	1514	broad.mit.edu	37	9	90343560	90343560	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:90343560C>T	uc004aph.2	+	5	807	c.457C>T	c.(457-459)CGG>TGG	p.R153W	CTSL1_uc004api.2_Missense_Mutation_p.R153W|CTSL1_uc004apj.2_Missense_Mutation_p.R98W|CTSL1_uc010mqh.2_Intron|CTSL1_uc004apk.2_Missense_Mutation_p.R153W|CTSL1_uc004apl.2_Missense_Mutation_p.R153W	NM_001912	NP_001903	P07711	CATL1_HUMAN	cathepsin L1 preproprotein	153					macrophage apoptosis|proteolysis	extracellular region|lysosome|nucleus	cysteine-type endopeptidase activity|histone binding			ovary(3)	3					Glucagon recombinant(DB00040)	ACAGATGTTCCGGAAAACTGG	0.463												
CKS2	1164	broad.mit.edu	37	9	91926143	91926143	+	Translation_Start_Site	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:91926143C>T	uc004aqh.2	+	1	31	c.-64C>T	c.(-66--62)GACGT>GATGT		hsa-mir-3153|MI0014180_5'Flank	NM_001827	NP_001818	P33552	CKS2_HUMAN	CDC28 protein kinase 2						cell division|cell proliferation|phosphatidylinositol-mediated signaling|regulation of cyclin-dependent protein kinase activity|spindle organization		cyclin-dependent protein kinase regulator activity				0						CTGGGCTGGACGTGGTTTTGT	0.607												
SECISBP2	79048	broad.mit.edu	37	9	91964707	91964707	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:91964707C>T	uc004aqj.1	+	13	1835	c.1755C>T	c.(1753-1755)GAC>GAT	p.D585D	SECISBP2_uc011ltk.1_Silent_p.D584D|SECISBP2_uc004aqk.1_Silent_p.D512D|SECISBP2_uc010mqo.1_Silent_p.D290D|SECISBP2_uc011ltl.1_Silent_p.D517D	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	585					translation	nucleus	mRNA 3'-UTR binding			ovary(2)|skin(1)	3						AGGGGATGGACGAACTGATCT	0.567												
IARS	3376	broad.mit.edu	37	9	95012488	95012488	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:95012488C>T	uc004art.1	-	24	2770	c.2513G>A	c.(2512-2514)CGA>CAA	p.R838Q	IARS_uc004ars.1_Missense_Mutation_p.R683Q|IARS_uc004aru.3_Missense_Mutation_p.R838Q|IARS_uc010mqr.2_Missense_Mutation_p.R728Q|IARS_uc010mqt.2_Missense_Mutation_p.R61Q	NM_013417	NP_038203	P41252	SYIC_HUMAN	isoleucine tRNA synthetase	838					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)|skin(1)	2					L-Isoleucine(DB00167)	AATAGTTTTTCGGTCTCTGAT	0.353												
NOL8	55035	broad.mit.edu	37	9	95073456	95073456	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:95073456T>C	uc004arv.2	-	8	2781	c.2444A>G	c.(2443-2445)CAG>CGG	p.Q815R	NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Missense_Mutation_p.Q47R|NOL8_uc011ltw.1_Missense_Mutation_p.Q747R	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	815					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1						TGGATGGCTCTGCTCCTGAGT	0.493												
FAM120A	23196	broad.mit.edu	37	9	96214614	96214614	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:96214614G>A	uc004atw.2	+	1	442	c.417G>A	c.(415-417)CTG>CTA	p.L139L	FAM120AOS_uc004atm.2_5'Flank|FAM120AOS_uc004atn.3_5'Flank|FAM120AOS_uc004ato.3_5'Flank|FAM120AOS_uc004atp.3_5'Flank|FAM120AOS_uc004atq.3_5'Flank|FAM120AOS_uc004atr.3_5'Flank|FAM120AOS_uc004ats.3_Intron|FAM120AOS_uc004att.3_Intron|FAM120AOS_uc004atu.3_Silent_p.G126G|FAM120A_uc004atv.2_Silent_p.L139L	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	139						cytoplasm|plasma membrane	RNA binding				0						TCTGGTTCCTGCCGCCCGTCT	0.567												
ZNF367	195828	broad.mit.edu	37	9	99150564	99150564	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:99150564C>T	uc004awf.2	-	5	1363	c.1008G>A	c.(1006-1008)GCG>GCA	p.A336A		NM_153695	NP_710162	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	336	Potential.				regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0167)				GCTCTATGAGCGCGAGGGCTC	0.577												
ERP44	23071	broad.mit.edu	37	9	102778630	102778630	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:102778630G>A	uc004bam.2	-	8	944	c.736C>T	c.(736-738)CGA>TGA	p.R246*	ERP44_uc010msy.2_RNA|ERP44_uc010msz.2_Nonsense_Mutation_p.R246*	NM_015051	NP_055866	Q9BS26	ERP44_HUMAN	thioredoxin domain containing 4 (endoplasmic	246	Interaction with ITPR1 (By similarity).				cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity				0						GTTATTTCTCGGACAAGAGGA	0.373												
ERP44	23071	broad.mit.edu	37	9	102782969	102782969	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:102782969C>T	uc004bam.2	-	6	724	c.516G>A	c.(514-516)TCG>TCA	p.S172S	ERP44_uc010msy.2_RNA|ERP44_uc010msz.2_Silent_p.S172S	NM_015051	NP_055866	Q9BS26	ERP44_HUMAN	thioredoxin domain containing 4 (endoplasmic	172					cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity				0						TATAGTTGTCCGAGTCCTTTT	0.313												
OR13C4	138804	broad.mit.edu	37	9	107289389	107289389	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:107289389C>T	uc011lvn.1	-	1	102	c.102G>A	c.(100-102)ATG>ATA	p.M34I		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C,	34	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TCACTACGTACATAACTAGAA	0.413												
ZNF462	58499	broad.mit.edu	37	9	109692859	109692859	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:109692859C>T	uc004bcz.2	+	4	6190	c.5901C>T	c.(5899-5901)GGC>GGT	p.G1967G	ZNF462_uc010mto.2_Silent_p.G1815G|ZNF462_uc004bda.2_Silent_p.G1815G|ZNF462_uc011lvz.1_5'Flank	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1967					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						AAGTGGTGGGCTACAAATGTA	0.507												
ZNF462	58499	broad.mit.edu	37	9	109694807	109694807	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:109694807G>A	uc004bcz.2	+	5	6382	c.6093G>A	c.(6091-6093)TCG>TCA	p.S2031S	ZNF462_uc010mto.2_Silent_p.S1940S|ZNF462_uc004bda.2_Silent_p.S1939S|ZNF462_uc011lvz.1_5'Flank	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	2031	C2H2-type 19.				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						AGTATTGCTCGTTTGTTTCTG	0.527												
KLF4	9314	broad.mit.edu	37	9	110248069	110248069	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:110248069G>A	uc004bdh.2	-	4	2099	c.1478C>T	c.(1477-1479)TCG>TTG	p.S493L	KLF4_uc004bdf.1_Missense_Mutation_p.S418L|KLF4_uc004bdg.2_Missense_Mutation_p.S468L	NM_004235	NP_004226	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	502	C2H2-type 3.|Interaction with target DNA (By similarity).				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(2)|lung(1)	3						GAGGTGGTCCGACCTGGAAAA	0.493												
ALAD	210	broad.mit.edu	37	9	116152094	116152094	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:116152094G>A	uc011lxf.1	-	8	787	c.585C>T	c.(583-585)AGC>AGT	p.S195S	ALAD_uc011lxe.1_Silent_p.S178S|ALAD_uc004bhl.3_Silent_p.S224S	NM_000031	NP_000022	P13716	HEM2_HUMAN	delta-aminolevulinic acid dehydratase	195					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding				0					Aminolevulinic acid(DB00855)	TGGCACTGTAGCTCATCACCG	0.562												
PTGS1	5742	broad.mit.edu	37	9	125148845	125148845	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:125148845C>T	uc004bmg.1	+	9	1265	c.1130C>T	c.(1129-1131)GCC>GTC	p.A377V	PTGS1_uc011lys.1_Missense_Mutation_p.A352V|PTGS1_uc010mwb.1_Missense_Mutation_p.A268V|PTGS1_uc004bmf.1_Missense_Mutation_p.A377V|PTGS1_uc004bmh.1_Missense_Mutation_p.A268V|PTGS1_uc011lyt.1_Missense_Mutation_p.A268V	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	377					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)	AACCGCATTGCCATGGAGTTC	0.542												
OR1Q1	158131	broad.mit.edu	37	9	125377740	125377740	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:125377740G>A	uc011lyy.1	+	1	724	c.724G>A	c.(724-726)GGC>AGC	p.G242S		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q,	242	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TTCTACCTGCGGCTCCCACCT	0.557												
GPR21	2844	broad.mit.edu	37	9	125797169	125797169	+	Silent	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:125797169A>G	uc011lzk.1	+	1	324	c.324A>G	c.(322-324)GTA>GTG	p.V108V	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	108	Helical; Name=3; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1						TTGGTTTTGTAGTATCAGTTC	0.443												
NR5A1	2516	broad.mit.edu	37	9	127262518	127262518	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:127262518G>A	uc004boo.1	-	4	908	c.721C>T	c.(721-723)CGG>TGG	p.R241W		NM_004959	NP_004950	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	241	Important for dimerization.				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						ATGCGGGCCCGCACCTGGTCC	0.677												
NR6A1	2649	broad.mit.edu	37	9	127289148	127289148	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:127289148G>A	uc004bor.1	-	8	1289	c.1111C>T	c.(1111-1113)CGG>TGG	p.R371W	NR6A1_uc004boq.1_Missense_Mutation_p.R366W|NR6A1_uc010mwq.1_Missense_Mutation_p.R367W	NM_033334	NP_201591	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	371					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						TAGATGAGCCGCTCGATCACC	0.488												
FAM129B	64855	broad.mit.edu	37	9	130272446	130272446	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:130272446G>A	uc004brh.2	-	9	1342	c.1140C>T	c.(1138-1140)GGC>GGT	p.G380G	FAM129B_uc004bri.2_Silent_p.G367G|FAM129B_uc004brj.3_Silent_p.G380G	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	380							protein binding				0						TGTCAATGCCGCCCTCGTTGA	0.632												
SH2D3C	10044	broad.mit.edu	37	9	130507379	130507379	+	Splice_Site	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:130507379C>T	uc004bsc.2	-	7	1407	c.1265_splice	c.e7-1	p.V422_splice	SH2D3C_uc010mxo.2_Splice_Site_p.V262_splice|SH2D3C_uc004bry.2_Splice_Site_p.V264_splice|SH2D3C_uc004brz.3_Splice_Site_p.V68_splice|SH2D3C_uc011mak.1_Splice_Site_p.V68_splice|SH2D3C_uc004bsa.2_Splice_Site_p.V265_splice|SH2D3C_uc004bsb.2_Splice_Site_p.V354_splice	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C isoform a						JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			ovary(1)	1						ACACGGGTTACTGCAGAAAGG	0.622												
CERCAM	51148	broad.mit.edu	37	9	131191074	131191074	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:131191074C>T	uc004buz.3	+	7	1323	c.925C>T	c.(925-927)CGG>TGG	p.R309W	CERCAM_uc004buy.1_Missense_Mutation_p.R231W|CERCAM_uc010mxz.2_Missense_Mutation_p.R231W|CERCAM_uc010mya.1_Missense_Mutation_p.R150W	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule 1	309					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				pancreas(1)	1						TCATGTGACTCGGCCCTCTAA	0.617												
SET	6418	broad.mit.edu	37	9	131455924	131455924	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:131455924C>T	uc004bvt.3	+	6	780	c.539C>T	c.(538-540)ACG>ATG	p.T180M	SET_uc004bvu.3_Missense_Mutation_p.T167M|SET_uc010myg.2_RNA|SET_uc011mbj.1_Missense_Mutation_p.T156M	NM_001122821	NP_001116293	Q01105	SET_HUMAN	SET translocation (myeloid leukemia-associated)	180					DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity				0		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		TAGGATTTGACGAAACGTTCG	0.408			T	NUP214	AML							
LAMC3	10319	broad.mit.edu	37	9	133914292	133914292	+	Missense_Mutation	SNP	C	C	T	rs146887458		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:133914292C>T	uc004caa.1	+	5	1116	c.1018C>T	c.(1018-1020)CGG>TGG	p.R340W		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	340	Laminin EGF-like 2.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CACGTTTGATCGGGAGCTCTT	0.607												
LAMC3	10319	broad.mit.edu	37	9	133942368	133942368	+	Missense_Mutation	SNP	A	A	G	rs147529316		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:133942368A>G	uc004caa.1	+	14	2467	c.2369A>G	c.(2368-2370)GAT>GGT	p.D790G		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	790	Laminin EGF-like 7.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GAGGTCTGTGATGATGGCTTT	0.637												
BRD3	8019	broad.mit.edu	37	9	136901415	136901415	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:136901415C>T	uc004cew.2	-	10	1863	c.1675G>A	c.(1675-1677)GCC>ACC	p.A559T	BRD3_uc004cex.2_3'UTR	NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	559						nucleus	protein binding		BRD3/C15orf55(3)	stomach(4)|midline_organs(3)|kidney(1)	8				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TCGTAGGAGGCAGATGCCTGC	0.607			T	NUT|C15orf55	lethal midline carcinoma of young people							
OLFM1	10439	broad.mit.edu	37	9	138011370	138011370	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:138011370T>A	uc010nar.2	+	6	1120	c.804T>A	c.(802-804)TAT>TAA	p.Y268*	OLFM1_uc004cfl.3_Nonsense_Mutation_p.Y250*|OLFM1_uc004cfn.3_Nonsense_Mutation_p.Y19*	NM_014279	NP_055094	Q99784	NOE1_HUMAN	olfactomedin related ER localized protein	268	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			ovary(1)|skin(1)	2		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		TGGACGGCTATCACAACAACC	0.557												
QSOX2	169714	broad.mit.edu	37	9	139113734	139113734	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:139113734G>A	uc010nbi.2	-	6	767	c.729C>T	c.(727-729)GAC>GAT	p.D243D		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2 precursor	243					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			ovary(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CTTTGTCCCCGTCCAGTGCTC	0.507												
SNAPC4	6621	broad.mit.edu	37	9	139279234	139279234	+	Missense_Mutation	SNP	T	T	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:139279234T>C	uc004chh.2	-	13	1367	c.1358A>G	c.(1357-1359)AAG>AGG	p.K453R		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	453	HTH myb-type 3.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CCACCGACCCTTTTTCAAGCT	0.403												
NOTCH1	4851	broad.mit.edu	37	9	139412379	139412379	+	Silent	SNP	G	G	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:139412379G>T	uc004chz.2	-	8	1266	c.1266C>A	c.(1264-1266)CCC>CCA	p.P422P		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	422	Extracellular (Potential).|EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CATGCTCGCAGGGGTTGGCAC	0.662			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)		
KIAA1984	84960	broad.mit.edu	37	9	139699855	139699855	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:139699855C>T	uc004cjf.2	+	9	942	c.894C>T	c.(892-894)GGC>GGT	p.G298G	C9orf86_uc004cjm.2_5'Flank|C9orf86_uc004cjh.2_5'Flank|C9orf86_uc004cjj.1_5'Flank|C9orf86_uc004cjk.1_5'Flank|C9orf86_uc004cji.1_5'Flank|C9orf86_uc010nbr.1_5'Flank|LOC100131193_uc004cjg.1_RNA	NM_001039374	NP_001034463	Q5T5S1	K1984_HUMAN	hypothetical protein LOC84960	298										ovary(1)	1	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		ACCAGTCGGGCGTGACTGCTG	0.602												
C9orf172	389813	broad.mit.edu	37	9	139741105	139741105	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:139741105C>T	uc011meh.1	+	1	2239	c.2239C>T	c.(2239-2241)CGC>TGC	p.R747C	PHPT1_uc004cjp.2_5'Flank|PHPT1_uc011mei.1_5'Flank|PHPT1_uc004cjq.3_5'Flank	NM_001080482	NP_001073951	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	747											0						CTTCCTGTCGCGCGGCCGCGG	0.697												
EDF1	8721	broad.mit.edu	37	9	139757759	139757759	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:139757759G>A	uc004cjt.1	-	3	300	c.272C>T	c.(271-273)ACG>ATG	p.T91M	EDF1_uc004cju.1_Missense_Mutation_p.T91M	NM_003792	NP_003783	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	91	Interaction with TBP and NR5A1.|HTH cro/C1-type.|Interaction with NR5A2, PPARG and NR1H3.			T->A: No effect on CALM-binding.|T->D: Partial loss of interaction with CALM. Complete loss of interaction; when associated with D-40; D-58 and D-111.	endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|protein binding|sequence-specific DNA binding|transcription coactivator activity				0	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GTCCTTCTGCGTAAGCCCCTT	0.657												
C9orf142	286257	broad.mit.edu	37	9	139888076	139888076	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:139888076C>T	uc004cki.2	+	6	561	c.535C>T	c.(535-537)CGG>TGG	p.R179W		NM_183241	NP_899064	Q9BUH6	CI142_HUMAN	hypothetical protein LOC286257	179											0	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGTCAGGAGGCGGTGTCCAGG	0.637												
CACNA1B	774	broad.mit.edu	37	9	140809195	140809195	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:140809195G>A	uc004cog.2	+	5	857	c.712G>A	c.(712-714)GCC>ACC	p.A238T		NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	238	Helical; Name=S5 of repeat I; (Potential).|I.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCTCATGTTTGCCATCATTGG	0.562												
SHOX	6473	broad.mit.edu	37	X	591692	591692	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:591692C>T	uc004cph.1	+	2	751	c.60C>T	c.(58-60)AAC>AAT	p.N20N	SHOX_uc004cpi.2_Silent_p.N20N	NM_000451	NP_000442	O15266	SHOX_HUMAN	short stature homeobox isoform SHOXa	20	Poly-Gly.				skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor 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)				AGGACGGTAACGGCGGAGGCG	0.622												
ZBED1	9189	broad.mit.edu	37	X	2407993	2407993	+	Silent	SNP	G	G	A	rs141687518		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:2407993G>A	uc004cqg.2	-	2	969	c.768C>T	c.(766-768)ATC>ATT	p.I256I	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Silent_p.I256I	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	256						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGCCCCACTCGATGAAGACCT	0.617												
KAL1	3730	broad.mit.edu	37	X	8503692	8503692	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:8503692C>T	uc004csf.2	-	12	1932	c.1782G>A	c.(1780-1782)ACG>ACA	p.T594T		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	594	Fibronectin type-III 4.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4						GTCTGCTTTCCGTAGTGACCT	0.493												
ARX	170302	broad.mit.edu	37	X	25033731	25033731	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:25033731G>A	uc004dbp.3	-	1	335	c.124C>T	c.(124-126)CGG>TGG	p.R42W		NM_139058	NP_620689	Q96QS3	ARX_HUMAN	aristaless related homeobox	42						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CCCAGCAACCGCATTTTGCAC	0.622												
HDAC6	10013	broad.mit.edu	37	X	48661558	48661558	+	Silent	SNP	A	A	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:48661558A>G	uc011mmi.1	+	4	341	c.246A>G	c.(244-246)GCA>GCG	p.A82A	HDAC6_uc004dkr.1_Silent_p.A82A|HDAC6_uc004dks.1_Silent_p.A82A|HDAC6_uc010nig.1_5'UTR|HDAC6_uc004dkt.1_Silent_p.A82A|HDAC6_uc004dku.3_Silent_p.A82A|HDAC6_uc011mmj.1_Silent_p.A27A|HDAC6_uc011mmk.1_Silent_p.A63A	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	82					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule 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)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4					Vorinostat(DB02546)	AGGCTGAAGCACTGGCTGGCA	0.527												
PPP1R3F	89801	broad.mit.edu	37	X	49138500	49138500	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:49138500C>T	uc004dnh.1	+	3	1133	c.1117C>T	c.(1117-1119)CGT>TGT	p.R373C	PPP1R3F_uc011mnd.1_Missense_Mutation_p.R44C|PPP1R3F_uc004dni.2_Missense_Mutation_p.R27C|PPP1R3F_uc004dnj.1_Missense_Mutation_p.R27C	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory (inhibitor)	373	Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	Ovarian(276;0.236)					CACCCCTCTCCGTCCATGGCC	0.567												
ALAS2	212	broad.mit.edu	37	X	55039970	55039970	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:55039970G>A	uc004dua.3	-	10	1687	c.1549C>T	c.(1549-1551)CGC>TGC	p.R517C	ALAS2_uc004dub.3_Missense_Mutation_p.R504C|ALAS2_uc004dud.3_Missense_Mutation_p.R480C	NM_000032	NP_000023	P22557	HEM0_HUMAN	5-aminolevulinate synthase 2 isoform a	517					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(1)	1					Glycine(DB00145)	GGTGCCAAGCGCAGGAGCTCT	0.577												
PCDH19	57526	broad.mit.edu	37	X	99662749	99662749	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:99662749C>T	uc010nmz.2	-	1	2523	c.847G>A	c.(847-849)GAC>AAC	p.D283N	PCDH19_uc004efw.3_Missense_Mutation_p.D283N|PCDH19_uc004efx.3_Missense_Mutation_p.D283N	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	283	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						CGCGTGCGGTCGTTGACGTAG	0.602												
GPRASP2	114928	broad.mit.edu	37	X	101971337	101971337	+	Missense_Mutation	SNP	T	T	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:101971337T>G	uc004ejk.2	+	4	2874	c.1540T>G	c.(1540-1542)TTT>GTT	p.F514V	GPRASP2_uc004ejl.2_Missense_Mutation_p.F514V|GPRASP2_uc004ejm.2_Missense_Mutation_p.F514V|GPRASP2_uc011mrp.1_5'Flank	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	514						cytoplasm	protein binding			ovary(1)	1						CACAAGCCCCTTTGGAATTCC	0.512												
COL4A6	1288	broad.mit.edu	37	X	107402789	107402789	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:107402789G>A	uc004enw.3	-	44	4821	c.4718C>T	c.(4717-4719)GCA>GTA	p.A1573V	COL4A6_uc004env.3_Missense_Mutation_p.A1572V|COL4A6_uc011msn.1_Missense_Mutation_p.A1548V|COL4A6_uc010npk.2_Missense_Mutation_p.A1515V|COL4A6_uc011msm.1_Missense_Mutation_p.A107V|COL4A6_uc010npj.2_Missense_Mutation_p.A52V	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	1573	Collagen IV NC1.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						TTGCGAGGGTGCCTCACACAC	0.592									Alport_syndrome_with_Diffuse_Leiomyomatosis			
IRS4	8471	broad.mit.edu	37	X	107979542	107979542	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:107979542C>T	uc004eoc.2	-	1	66	c.33G>A	c.(31-33)GCG>GCA	p.A11A		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	11						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						GTCTTCTTGTCGCTTGGTCGC	0.597												
CAPN6	827	broad.mit.edu	37	X	110495724	110495724	+	Silent	SNP	C	C	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:110495724C>A	uc004epc.1	-	5	678	c.510G>T	c.(508-510)CTG>CTT	p.L170L	CAPN6_uc011msu.1_Intron	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	calpain 6	170	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						AACAGCCTAGCAGCCTGAGGG	0.423												
DCAF12L1	139170	broad.mit.edu	37	X	125686397	125686397	+	Silent	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:125686397G>A	uc004eul.2	-	1	446	c.195C>T	c.(193-195)CCC>CCT	p.P65P		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	65										skin(3)|ovary(1)	4						GGAGCCTGGCGGGGCCCCACC	0.687												
ACTRT1	139741	broad.mit.edu	37	X	127185702	127185702	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:127185702C>T	uc004eum.2	-	1	681	c.484G>A	c.(484-486)GTC>ATC	p.V162I		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	162						cytoplasm|cytoskeleton				ovary(2)|central_nervous_system(2)|skin(1)	5						GTGCAAGTGACCCCATCTCCA	0.577												
GPC3	2719	broad.mit.edu	37	X	132887949	132887949	+	Missense_Mutation	SNP	G	G	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:132887949G>A	uc004exe.1	-	3	782	c.592C>T	c.(592-594)CTC>TTC	p.L198F	GPC3_uc004exd.1_Missense_Mutation_p.L70F|GPC3_uc010nrn.1_Missense_Mutation_p.L198F|GPC3_uc011mvh.1_Missense_Mutation_p.L182F|GPC3_uc010nro.1_Missense_Mutation_p.L144F|GPC3_uc010nrp.1_Missense_Mutation_p.L70F	NM_004484	NP_004475	P51654	GPC3_HUMAN	glypican 3 isoform 2 precursor	198						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			lung(2)|prostate(1)|breast(1)|skin(1)	5	Acute lymphoblastic leukemia(192;0.000127)					GCTCCTCGGAGGCACTCATTG	0.468			T|D|Mis|N|F|S			Wilms tumour			Simpson-Golabi-Behmel_syndrome			
MAGEA1	4100	broad.mit.edu	37	X	152482987	152482987	+	Silent	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:152482987C>T	uc004fhf.2	-	3	244	c.24G>A	c.(22-24)CTG>CTA	p.L8L		NM_004988	NP_004979	P43355	MAGA1_HUMAN	melanoma antigen family A, 1	8						cytoplasm|plasma membrane				central_nervous_system(7)|ovary(1)|lung(1)|breast(1)	10	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTTGCAGTGCAGACTCCTCT	0.627												
DUSP9	1852	broad.mit.edu	37	X	152915111	152915111	+	Silent	SNP	G	G	A	rs137969779	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:152915111G>A	uc004fhx.3	+	3	1002	c.798G>A	c.(796-798)TCG>TCA	p.S266S	DUSP9_uc004fhy.3_Silent_p.S266S	NM_001395	NP_001386	Q99956	DUS9_HUMAN	dual specificity phosphatase 9	266	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)	2	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGAACCTGTCGCGGTTCTTTC	0.572												
HCFC1	3054	broad.mit.edu	37	X	153219639	153219639	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:153219639C>T	uc004fjp.2	-	17	4739	c.4211G>A	c.(4210-4212)GGC>GAC	p.G1404D		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	1404					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCGCGGTGCCAGCCTGGGG	0.677												
FLNA	2316	broad.mit.edu	37	X	153596065	153596065	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:153596065C>T	uc004fkk.2	-	4	913	c.664G>A	c.(664-666)GTT>ATT	p.V222I	FLNA_uc010nuu.1_Missense_Mutation_p.V222I	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	222	CH 2.|Actin-binding.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCATTGGTAACGGGCTTGCTG	0.677												
PLXNA3	55558	broad.mit.edu	37	X	153693146	153693146	+	Missense_Mutation	SNP	C	C	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:153693146C>T	uc004flm.2	+	10	2151	c.1978C>T	c.(1978-1980)CGC>TGC	p.R660C		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	660	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGTAAGTACCGCCACACGTG	0.647												
SLC12A8	84561	broad.mit.edu	37	3	124810944	124810944	+	Splice_Site	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:124810944delC	uc003ehv.3	-	11	1914	c.1803_splice	c.e11+1	p.G601_splice	SLC12A8_uc003ehw.3_Splice_Site_p.G630_splice|SLC12A8_uc003eht.3_Splice_Site_p.G402_splice|SLC12A8_uc003ehu.3_Splice_Site_p.G354_splice|SLC12A8_uc010hry.2_Intron	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8						potassium ion transport	integral to membrane	symporter activity				0						AAGTTACTCACCCCCAACAGG	0.493												
CEBPZ	10153	broad.mit.edu	37	2	37430154	37430154	+	Splice_Site	DEL	A	A	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:37430153_37430153TA>T	uc002rpz.3	-	14	2915	c.2885_splice	c.e14-1	p.G962_splice	LOC100505876_uc002rpy.2_3'UTR|LOC100505876_uc002rpx.2_3'UTR	NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), zeta (CEBPZ), mRNA.	962					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(1)		breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTCTTGGCCCTAAAAAAAATT	0.269												
USP34	9736	broad.mit.edu	37	2	61577527	61577527	+	Splice_Site	DEL	A	A	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:61577526_61577526TA>T	uc002sbe.3	-	12	1400	c.1378_splice	c.e12-1	p.T460_splice		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	460					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTACAGTGTCTAAAAAAAAGA	0.338												
TRIP12	9320	broad.mit.edu	37	2	230652221	230652221	+	Splice_Site	DEL	T	T	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:230652220_230652220CT>C	uc002vpx.1	-	33	5023	c.4914_splice	c.e33+1	p.K1638_splice	TRIP12_uc021vxw.1_Splice_Site_p.K1623_splice|TRIP12_uc002vpy.1_Splice_Site_p.K1320_splice|TRIP12_uc002vpw.1_Splice_Site_p.K1590_splice	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	1590					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		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)		GAGAAACTTACTTTTTTTCTA	0.363												
DNAJC18	202052	broad.mit.edu	37	5	138764375	138764375	+	Splice_Site	DEL	A	A	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:138764374_138764374TA>T	uc003len.3	-	3	308	c.228_splice	c.e3-1	p.R76_splice	DNAJC18_uc010jff.3_Splice_Site_p.R76_splice	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 18 (DNAJC18), mRNA.	76					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTCTTGATCCTAAAAAAAATC	0.373												
SVEP1	79987	broad.mit.edu	37	9	113241917	113241917	+	Splice_Site	DEL	T	T	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:113241916_113241916AT>A	uc010mtz.3	-	13	2824	c.2487_splice	c.e13+1	p.M829_splice	SVEP1_uc010mua.1_Splice_Site_p.M829_splice|SVEP1_uc004beu.2_Splice_Site_p.M829_splice	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	829					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			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						TTGATGTACCATTTTTCCCAG	0.388												
NAA16	79612	broad.mit.edu	37	13	41941577	41941577	+	Splice_Site	DEL	T	T	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:41941576_41941576AT>A	uc001uyf.2	+	14	1864	c.1540_splice	c.e14-1	p.H514_splice	NAA16_uc010tfg.1_Splice_Site	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	Homo sapiens N(alpha)-acetyltransferase 16, NatA auxiliary subunit (NAA16), transcript variant 1, mRNA.	514					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						GTTTTTAAGCATTTTTTTGAG	0.289												
C14orf149	112849	broad.mit.edu	37	14	59946072	59946072	+	Splice_Site	DEL	A	A	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:59946071_59946071TA>T	uc001xee.1	-	2	548	c.509_splice	c.e2-1	p.D170_splice	C14orf149_uc010trx.1_Intron	NM_144581	NP_653182	Q96EM0	PRCM_HUMAN	Homo sapiens chromosome 14 open reading frame 149 (C14orf149), mRNA.	170							proline racemase activity			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.14)	L-Proline(DB00172)	CCATGAGATCTAAAAAAAAGA	0.333												
SYNE2	23224	broad.mit.edu	37	14	64586330	64586330	+	Splice_Site	DEL	A	A	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:64586329_64586329TA>T	uc001xgl.3	+	67	13253	c.13023_splice	c.e67+2	p.Q4341_splice	SYNE2_uc001xgm.3_Splice_Site_p.Q4341_splice|SYNE2_uc021ruh.1_Splice_Site_p.Q4356_splice|SYNE2_uc010apy.3_Splice_Site_p.Q726_splice|SYNE2_uc010apz.1_Splice_Site_p.Q233_splice	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	4341					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAAGATCAGGTAAAAAATGAC	0.423												
MFRP	83552	broad.mit.edu	37	11	119213688	119213688	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	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												
MNT	4335	broad.mit.edu	37	17	2298413	2298413	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:2298413delG	uc002fur.2	-	2	661	c.409delC	c.(409-411)CTGfs	p.L137fs		NM_020310	NP_064706	Q99583	MNT_HUMAN	MAX binding protein	137					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			skin(1)	1				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		CTGCTGGGCAGGGGGGCAGGC	0.662												
KIAA0100	9703	broad.mit.edu	37	17	26961600	26961600	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:26961600delG	uc002hbu.2	-	16	3104	c.3005delC	c.(3004-3006)CCTfs	p.P1002fs		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1002						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					TAATCCCTCAGGGGGAAAAGG	0.502												
RPS6KB1	6198	broad.mit.edu	37	17	57970683	57970683	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:57970683delG	uc002ixy.2	+	1	241	c.138delG	c.(136-138)GAGfs	p.E46fs	TUBD1_uc010ddf.1_5'Flank|TUBD1_uc002ixw.1_5'Flank|TUBD1_uc010ddg.1_5'Flank|TUBD1_uc010ddh.1_5'Flank|TUBD1_uc010wok.1_5'Flank|TUBD1_uc002ixx.1_5'Flank|TUBD1_uc010wol.1_5'Flank|TUBD1_uc010ddi.1_5'Flank|RPS6KB1_uc010ddj.1_Frame_Shift_Del_p.E46fs|RPS6KB1_uc010wom.1_5'UTR|RPS6KB1_uc010won.1_Frame_Shift_Del_p.E46fs	NM_003161	NP_003152	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide	46					apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			large_intestine(1)	1	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			AGCTGGAGGAGGGGGTGAGGC	0.592												
MBD1	4152	broad.mit.edu	37	18	47803053	47803053	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:47803053delT	uc010dow.1	-	5	891	c.454delA	c.(454-456)ACGfs	p.T152fs	MBD1_uc002lef.2_5'UTR|MBD1_uc002leg.2_Frame_Shift_Del_p.T152fs|MBD1_uc010xdi.1_Frame_Shift_Del_p.T178fs|MBD1_uc002leh.3_Frame_Shift_Del_p.T152fs|MBD1_uc002len.2_Frame_Shift_Del_p.T152fs|MBD1_uc002lei.3_Frame_Shift_Del_p.T152fs|MBD1_uc002lej.3_Frame_Shift_Del_p.T152fs|MBD1_uc002lek.3_Frame_Shift_Del_p.T152fs|MBD1_uc002lel.3_Frame_Shift_Del_p.T152fs|MBD1_uc002lem.3_Frame_Shift_Del_p.T152fs|MBD1_uc010xdj.1_Frame_Shift_Del_p.T152fs|MBD1_uc010xdk.1_Frame_Shift_Del_p.T152fs|MBD1_uc010dox.1_Frame_Shift_Del_p.T152fs|MBD1_uc002leo.2_Frame_Shift_Del_p.T152fs	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1 isoform 1	152					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						TTGCACAACGTTTTGAGCCGC	0.582												
LPPR2	64748	broad.mit.edu	37	19	11470601	11470601	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:11470601delC	uc002mre.1	+	5	697	c.360delC	c.(358-360)AGCfs	p.S120fs	LPPR2_uc002mrf.1_Frame_Shift_Del_p.S95fs|LPPR2_uc010dxy.1_5'UTR	NM_022737	NP_073574	Q96GM1	LPPR2_HUMAN	lipid phosphate phosphatase-related protein type	120						integral to membrane	phosphatidate phosphatase activity			large_intestine(1)	1						GCCGCTTCAGCCCCCCAGTGC	0.627												
MYO9B	4650	broad.mit.edu	37	19	17322569	17322569	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:17322569delG	uc010eak.2	+	39	6196	c.6044delG	c.(6043-6045)CGGfs	p.R2015fs	MYO9B_uc002nfi.2_Frame_Shift_Del_p.R2015fs|MYO9B_uc002nfm.1_Frame_Shift_Del_p.R175fs	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	2015	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1						CGGGCCGGGCGGGGGGCCTCG	0.692												
ZNF580	51157	broad.mit.edu	37	19	56153990	56153992	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:56153990_56153992delCTT	uc002qlo.2	+	2	286_288	c.116_118delCTT	c.(115-120)CCTTCC>CCC	p.S41del	ZNF580_uc002qlm.2_In_Frame_Del_p.S54del|ZNF581_uc002qln.2_Intron|ZNF580_uc002qlp.2_In_Frame_Del_p.S41del|ZNF580_uc010ygd.1_In_Frame_Del_p.S41del|ZNF581_uc002qlq.2_5'Flank	NM_207115	NP_996998	Q9UK33	ZN580_HUMAN	zinc finger protein 580	41	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TCCTCCACTCCTTCCTcggcggc	0.567												
KIAA1486	57624	broad.mit.edu	37	2	226447379	226447379	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:226447379delC	uc002voe.2	+	4	1421	c.1246delC	c.(1246-1248)CCCfs	p.P416fs	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Frame_Shift_Del_p.P186fs	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	416	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)		GTCGCCCCCACCCCCGTCTAC	0.677												
SLC25A17	10478	broad.mit.edu	37	22	41195058	41195058	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:41195058delA	uc003azc.2	-	2	224	c.84delT	c.(82-84)TTTfs	p.F28fs	SLC25A17_uc010gyg.2_RNA|SLC25A17_uc011aou.1_5'UTR|SLC25A17_uc003azd.2_RNA|SLC25A17_uc011aov.1_Frame_Shift_Del_p.F28fs	NM_006358	NP_006349	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier;	28	Solcar 1.|Helical; Name=1; (Potential).				fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding				0						TATCCAGGGGAAAAAACACTG	0.348												
SLC12A8	84561	broad.mit.edu	37	3	124810944	124810944	+	Splice_Site	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:124810944delC	uc003ehv.3	-	11	1914	c.1803_splice	c.e11+1	p.G601_splice	SLC12A8_uc003ehw.3_Splice_Site_p.G630_splice|SLC12A8_uc003eht.3_Splice_Site_p.G402_splice|SLC12A8_uc003ehu.3_Splice_Site_p.G354_splice|SLC12A8_uc010hry.2_Intron	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8						potassium ion transport	integral to membrane	symporter activity				0						AAGTTACTCACCCCCAACAGG	0.493												
BCOR	54880	broad.mit.edu	37	X	39931787	39931788	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:39931787_39931788insG	uc004den.3	-	4	3103_3104	c.2811_2812insC	c.(2809-2814)CCCACCfs	p.P937fs	BCOR_uc004dep.3_Frame_Shift_Ins_p.P937fs|BCOR_uc004deo.3_Frame_Shift_Ins_p.P937fs|BCOR_uc004dem.3_Frame_Shift_Ins_p.P937fs|BCOR_uc004deq.3_Frame_Shift_Ins_p.P937fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	937_938					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						TTGGTATAGGTGGGGGTCACAT	0.515												
KDM6A	7403	broad.mit.edu	37	X	44922797	44922798	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:44922797_44922798delTC	uc004dge.3	+	16	2033_2034	c.1658_1659delTC	c.(1657-1659)GTCfs	p.V553fs	KDM6A_uc010nhk.2_Frame_Shift_Del_p.V519fs|KDM6A_uc011mkz.1_Frame_Shift_Del_p.V605fs|KDM6A_uc011mla.1_Frame_Shift_Del_p.V508fs|KDM6A_uc011mlb.1_Frame_Shift_Del_p.V560fs|KDM6A_uc011mlc.1_Frame_Shift_Del_p.V257fs|KDM6A_uc011mld.1_Frame_Shift_Del_p.V192fs	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	553					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						GTGCCTAGCGTCTCTCAGCCTG	0.564			D|N|F|S		renal|oesophageal SCC|MM							
ZC4H2	55906	broad.mit.edu	37	X	64139033	64139033	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:64139033delG	uc004dvu.2	-	4	538	c.450delC	c.(448-450)CCCfs	p.P150fs	ZC4H2_uc004dvv.2_Frame_Shift_Del_p.P127fs|ZC4H2_uc011mov.1_Frame_Shift_Del_p.P127fs|ZC4H2_uc011mow.1_Intron|ZC4H2_uc004dvw.1_3'UTR	NM_018684	NP_061154	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	150							metal ion binding|protein binding			ovary(1)	1						ACTCAGGGATGGGGGGCTCCT	0.572												
NAP1L2	4674	broad.mit.edu	37	X	72433105	72433106	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:72433105_72433106insA	uc004ebi.2	-	1	1579_1580	c.1223_1224insT	c.(1222-1224)TTCfs	p.F408fs	NAP1L2_uc011mqj.1_Frame_Shift_Ins_p.F266fs	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	408					nucleosome assembly	chromatin assembly complex				lung(1)	1	Renal(35;0.156)					CATCACCTGAGAAAAATAATAC	0.356												
AGRN	375790	broad.mit.edu	37	1	981861	981862	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:981860_981861G>GC	uc001ack.2	+	17	3045_3046	c.2995_2996G>GC	c.(2995-2997)gccfs	p.A999fs		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	999	Ser/Thr-rich.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGCACTGCCGGCCCCCCCCGGC	0.703												
KIAA1751	85452	broad.mit.edu	37	1	1900173	1900173	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:1900172_1900172TG>T	uc001aim.1	-	10	1303	c.1147_1147CA>A	c.(1147-1149)accfs	p.T383fs	KIAA1751_uc009vkz.1_Frame_Shift_Del_p.T383fs	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	383										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CTGGCACTGGTGGGGGGATGC	0.532												
PADI3	51702	broad.mit.edu	37	1	17603075	17603075	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:17603074_17603074GC>G	uc001bai.3	+	11	1408	c.1368_1368GC>G	c.(1366-1368)cagfs	p.Q456fs		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	456					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGAAGGTGCAGCCCCCCGTGG	0.567												
HSPG2	3339	broad.mit.edu	37	1	22155955	22155955	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:22155954_22155954TC>T	uc009vqd.3	-	86	11957	c.11917_11917GA>A	c.(11917-11919)aagfs	p.K3973fs	HSPG2_uc001bfi.3_5'UTR|HSPG2_uc001bfj.3_Frame_Shift_Del_p.K3972fs	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3972	Laminin G-like 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		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)	GGCCCGCTCTTCCCCCCGCTG	0.652												
ARID1A	8289	broad.mit.edu	37	1	27101438	27101438	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:27101437_27101437GC>G	uc001bmv.1	+	17	5092	c.4719_4719GC>G	c.(4717-4719)cagfs	p.Q1573fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.Q1572fs|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Frame_Shift_Del_p.Q1190fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.Q419fs|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1573					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTAACTACCAGCCCCCACCAA	0.622			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
RNF19B	127544	broad.mit.edu	37	1	33402541	33402541	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:33402540_33402540CG>C	uc010oho.2	-	8	2066	c.2066_2066CG>G	c.(2065-2067)cgcfs	p.R689fs	RNF19B_uc001bwm.4_3'UTR|RNF19B_uc010ohp.2_Frame_Shift_Del_p.R688fs	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	Homo sapiens ring finger protein 19B (RNF19B), transcript variant 1, mRNA.	689						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AGTATGGGAGCGGGGGGAGCC	0.607												
RLF	6018	broad.mit.edu	37	1	40702139	40702140	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:40702138_40702139T>TA	uc001cfc.4	+	7	1795_1796	c.1764_1765T>TA	c.(1762-1767)attaaafs	p.I588fs	RLF_uc001cfd.4_Frame_Shift_Ins_p.I279fs	NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	588					DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CAGTTTGTATTAAAAAATTTAA	0.342												
HIVEP3	59269	broad.mit.edu	37	1	42046106	42046108	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:42046105_42046107GCCT>G	uc001cgz.4	-	3	5575_5577	c.4362_4364AGGC>C	c.(4360-4365)gaggct>gaCt	p.1454_1455EA>D	HIVEP3_uc001cha.4_In_Frame_Del_p.1454_1455EA>D|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1454					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGCCTTGGAAGCCTCCTCCTCCT	0.512												
WDR65	149465	broad.mit.edu	37	1	43649306	43649306	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:43649305_43649305GA>G	uc021omk.1	+	3	664	c.518_518GA>G	c.(517-519)ggafs	p.G173fs	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Frame_Shift_Del_p.G162fs|WDR65_uc001ciq.2_Frame_Shift_Del_p.G173fs|WDR65_uc001cip.2_Frame_Shift_Del_p.G173fs	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	173										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGTGTCACTGGAAATGGGATG	0.428												
GBP7	388646	broad.mit.edu	37	1	89599011	89599012	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:89599010_89599011C>CT	uc001dna.2	-	9	1731_1732	c.1592_1593G>AG	c.(1591-1593)aagfs	p.K531fs	GBP2_uc001dmy.1_Intron	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	531						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CCATCTTCTTCTTGAGTTGAGC	0.436												
ZNF644	84146	broad.mit.edu	37	1	91382413	91382413	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:91382412_91382412CT>C	uc001dnw.3	-	5	4210	c.3927_3927AG>G	c.(3925-3927)aagfs	p.K1309fs	ZNF644_uc001dnv.3_Frame_Shift_Del_p.K87fs|ZNF644_uc001dnx.3_Frame_Shift_Del_p.K87fs	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	1309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		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)		TGGAGGCAGGCTTTTTAAGTA	0.413												
CSF1	1435	broad.mit.edu	37	1	110466431	110466431	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:110466430_110466430AC>A	uc001dyu.2	+	5	1600	c.1187_1187AC>A	c.(1186-1188)gacfs	p.D396fs	CSF1_uc001dyt.2_Intron|CSF1_uc021ori.1_Intron|CSF1_uc001dyw.4_Frame_Shift_Del_p.D396fs|CSF1_uc021orj.1_Intron	NM_172212	NP_757351	P09603	CSF1_HUMAN	Homo sapiens colony stimulating factor 1 (macrophage) (CSF1), transcript variant 4, mRNA.	396					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTGCTCAGAGACCCCCCGGAG	0.657												
SLC16A1	6566	broad.mit.edu	37	1	113471890	113471890	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:113471889_113471889TG>T	uc001ecx.3	-	1	874	c.42_42CA>A	c.(40-42)ccafs	p.P14fs	SLC16A1_uc001ecy.3_Frame_Shift_Del_p.P14fs|SLC16A1_uc001ecz.3_Frame_Shift_Del_p.P14fs	NM_001166496	NP_003042	P53985	MOT1_HUMAN	Homo sapiens solute carrier family 16, member 1 (monocarboxylic acid transporter 1) (SLC16A1), transcript variant 2, mRNA.	14					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	AGCCTCCATCTGGGGGGGTGT	0.428												
ADAM30	11085	broad.mit.edu	37	1	120437095	120437096	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:120437094_120437095A>AT	uc001eij.3	-	0	2053_2054	c.1865_1866T>AT	c.(1864-1866)aatfs	p.N622fs		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	622	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TATTGACGCAATTTTTTTTAAA	0.446												
OTUD7B	56957	broad.mit.edu	37	1	149915984	149915984	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:149915983_149915983AG>A	uc001etn.3	-	11	2661	c.2305_2305CT>T	c.(2305-2307)tacfs	p.Y769fs		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	Homo sapiens OTU domain containing 7B (OTUD7B), mRNA.	769					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|cysteine-type peptidase activity|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GCCACTCGGTAGGGGGGTGGT	0.607												
ADAMTSL4	54507	broad.mit.edu	37	1	150530506	150530507	+	Frame_Shift_Ins	INS	-	-	GG	rs149280379		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:150530505_150530506T>TGG	uc009wlw.3	+	13	2489_2490	c.2331_2332T>TGG	c.(2329-2334)tttgggfs	p.F777fs	ADAMTSL4_uc001euw.3_Frame_Shift_Ins_p.F754fs|ADAMTSL4_uc001eux.3_Frame_Shift_Ins_p.F754fs|ADAMTSL4_uc010pcg.2_Frame_Shift_Ins_p.F715fs|ADAMTSL4_uc009wlx.3_5'UTR	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	754	TSP type-1 2.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	p.F754L(1)		breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGCAGGAATTTGGGGGGGGTGG	0.693												
KPRP	448834	broad.mit.edu	37	1	152732678	152732678	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:152732677_152732677AC>A	uc001fal.1	+	1	671	c.613_613AC>A	c.(613-615)accfs	p.T205fs	KPRP_uc021ozf.1_Frame_Shift_Del_p.T205fs	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	205	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAACAACTACACCCCCCAGTT	0.572												
TIPRL	261726	broad.mit.edu	37	1	168169262	168169263	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:168169261_168169262C>CA	uc001gfg.3	+	6	941_942	c.796_797C>CA	c.(796-798)caafs	p.Q266fs		NM_152902	NP_690866	O75663	TIPRL_HUMAN	Homo sapiens TIP41, TOR signaling pathway regulator-like (S. cerevisiae) (TIPRL), transcript variant 1, mRNA.	266	Interaction with PPP2CA.				DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding			breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					AGCAGACTCACAAAAAAGTACA	0.356												
LAMC2	3918	broad.mit.edu	37	1	183203528	183203529	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:183203527_183203528T>TG	uc001gqa.2	+	14	2560_2561	c.2246_2247T>TG	c.(2245-2247)gtgfs	p.V749fs	LAMC2_uc001gpz.4_Frame_Shift_Ins_p.V749fs|LAMC2_uc010poa.2_Frame_Shift_Ins_p.V449fs	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	749	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	p.V749M(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GACCACTACGTGGGGCCAAATG	0.515												
NEK7	140609	broad.mit.edu	37	1	198222298	198222298	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:198222297_198222297TA>T	uc001gun.4	+	2	512	c.185_185TA>T	c.(184-186)ttafs	p.L62fs	NEK7_uc021pgx.1_Frame_Shift_Del_p.L62fs	NM_133494	NP_598001	Q8TDX7	NEK7_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 7 (NEK7), mRNA.	62	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.V65fs*5(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						CCAGTAGCTTTAAAAAAAGTG	0.318												
DDX59	83479	broad.mit.edu	37	1	200635556	200635557	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:200635555_200635556T>TC	uc009wzk.3	-	1	556_557	c.313_314A>GA	c.(313-315)gaafs	p.E105fs	DDX59_uc010ppl.1_Frame_Shift_Ins_p.E105fs	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 (DDX59), mRNA.	105						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ACAGATGGGTTCCCCTGGTTCT	0.470												
PLEKHA6	22874	broad.mit.edu	37	1	204228411	204228411	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	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												
TMEM206	55248	broad.mit.edu	37	1	212548597	212548598	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:212548596_212548597C>CT	uc010pte.2	-	7	1180_1181	c.1012_1013G>AG	c.(1012-1014)agtfs	p.S338fs	TMEM206_uc001hjc.4_Frame_Shift_Ins_p.S277fs	NM_001198862	NP_001185791	Q9H813	TM206_HUMAN	Homo sapiens transmembrane protein 206 (TMEM206), transcript variant 1, mRNA.	277						integral to membrane				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		CAATTGAGCACTTTTTTTGGCA	0.396												
OBSCN	84033	broad.mit.edu	37	1	228556592	228556593	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:228556591_228556592A>AT	uc009xez.1	+	88	19980_19981	c.19936_19937A>AT	c.(19936-19938)attfs	p.I6646fs	OBSCN_uc001hsr.1_Frame_Shift_Ins_p.I1275fs	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6646	Protein kinase 1.				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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCCTCCGACATTTGGTGAGTG	0.634												
PCNXL2	80003	broad.mit.edu	37	1	233372595	233372595	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:233372594_233372594TG>T	uc001hvl.2	-	8	2590	c.2355_2355CA>A	c.(2353-2355)ccafs	p.P785fs	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript|PCNXL2_uc001hvq.1_Frame_Shift_Del_p.P84fs	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	785						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TACGTACCCGTGGGGTTTCCG	0.507												
PCNXL2	80003	broad.mit.edu	37	1	233394457	233394457	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:233394456_233394456TG>T	uc001hvl.2	-	4	1387	c.1152_1152CA>A	c.(1150-1152)ccafs	p.P384fs	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	384						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TCATGGAGTTTGGGGTACTGC	0.507												
KIAA1804	84451	broad.mit.edu	37	1	233514890	233514890	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:233514889_233514889TC>T	uc001hvt.4	+	8	2398	c.2137_2137TC>T	c.(2137-2139)tccfs	p.S713fs	KIAA1804_uc001hvu.4_Frame_Shift_Del_p.S159fs	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	713					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				TCTGAGTAGATCCCCCCAGAG	0.537												
OR2T8	343172	broad.mit.edu	37	1	248084551	248084552	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr1:248084550_248084551C>CA	uc010pzc.2	+	0	231_232	c.231_232C>CA	c.(229-234)cccaaafs	p.P77fs		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 8 (OR2T8), mRNA.	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCACTGTGCCCAAAATGGCGGC	0.579												
RAD51AP2	729475	broad.mit.edu	37	2	17698737	17698737	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:17698736_17698736GT>G	uc002rcl.1	-	0	971	c.947_947AC>C	c.(946-948)actfs	p.T316fs	RAD51AP2_uc010exn.1_Frame_Shift_Del_p.T307fs	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	316										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CGCTTCTACAGTTTTTTTATC	0.328												
XDH	7498	broad.mit.edu	37	2	31572970	31572970	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:31572969_31572969GC>G	uc002rnv.1	-	24	2831	c.2752_2752GC>C	c.(2752-2754)cccfs	p.P918fs		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	918					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.G917G(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	ATCCCCTGGGGCCCCCCAAAG	0.572												
FAM82A1	151393	broad.mit.edu	37	2	38224583	38224584	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:38224582_38224583GAA>G	uc002rqn.2	+	7	1629_1630	c.1503_1504GAA>G	c.(1501-1506)gagaaafs	p.E501fs	FAM82A1_uc002rqk.1_Frame_Shift_Del_p.E178fs|FAM82A1_uc002rql.3_Frame_Shift_Del_p.E323fs|FAM82A1_uc021vga.1_Frame_Shift_Del_p.E323fs|FAM82A1_uc002rqm.3_Frame_Shift_Del_p.E178fs	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	323						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						GCTGGATTGAGAAAAAAATGGC	0.356												
RHOQ	23433	broad.mit.edu	37	2	46808174	46808174	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:46808173_46808173TA>T	uc002rva.3	+	4	888	c.569_569TA>T	c.(568-570)gtafs	p.V190fs	BC048424_uc002rvb.3_5'Flank	NM_012249	NP_036381	P17081	RHOQ_HUMAN	Homo sapiens ras homolog gene family, member Q (RHOQ), mRNA.	190					cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AAACACACTGTAAAAAAAAGA	0.368												
MTIF2	4528	broad.mit.edu	37	2	55489517	55489517	+	Frame_Shift_Del	DEL	T	T	-	rs35432898		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:55489516_55489516CT>C	uc002ryn.3	-	5	1004	c.267_267AG>G	c.(265-267)aagfs	p.K89fs	MTIF2_uc010yox.2_5'UTR|MTIF2_uc002ryo.3_Frame_Shift_Del_p.K89fs	NM_001005369	NP_002444	P46199	IF2M_HUMAN	Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	89					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						CTTCTACCACCTTTTTAGATT	0.333												
CCDC88A	55704	broad.mit.edu	37	2	55561925	55561926	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:55561924_55561925G>GT	uc002ryv.2	-	14	2874_2875	c.2032_2033C>AC	c.(2032-2034)acafs	p.T678fs	CCDC88A_uc010ypa.1_Frame_Shift_Ins_p.T678fs|CCDC88A_uc010yoz.1_Frame_Shift_Ins_p.T678fs|CCDC88A_uc010ypb.1_Frame_Shift_Ins_p.T580fs|CCDC88A_uc002ryu.2_5'UTR|CCDC88A_uc002ryw.3_5'UTR	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	678					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GCTATCCAATGTTTTTTTTAAT	0.287												
CCDC85A	114800	broad.mit.edu	37	2	56420368	56420368	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:56420367_56420367TG>T	uc002rzn.3	+	1	1534	c.1032_1032TG>T	c.(1030-1032)cttfs	p.L344fs	CCDC85A_uc021vhw.1_Intron	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	344	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AACACGCTCTTGGGGGGAGCC	0.622												
ATP6V1B1	525	broad.mit.edu	37	2	71191573	71191573	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:71191572_71191572AC>A	uc002shj.3	+	11	1235	c.1148_1148AC>A	c.(1147-1149)tacfs	p.Y383fs	ATP6V1B1_uc010fdx.3_Frame_Shift_Del_p.Y341fs	NM_001692	NP_001683	P15313	VATB1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA.	383					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CCTCAGATCTACCCCCCCATC	0.542											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MCEE	84693	broad.mit.edu	37	2	71351665	71351666	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:71351664_71351665G>GA	uc002shs.2	-	1	94_95	c.49_50C>TC	c.(49-51)tccfs	p.S17fs		NM_032601	NP_115990	Q96PE7	MCEE_HUMAN	Homo sapiens methylmalonyl CoA epimerase (MCEE), mRNA.	17					L-methylmalonyl-CoA metabolic process|fatty acid beta-oxidation	mitochondrial matrix	methylmalonyl-CoA epimerase activity			kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						TTGAAGTCTGGAAAAAAGCCCT	0.391												
R3HDM1	23518	broad.mit.edu	37	2	136409442	136409442	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:136409441_136409441GC>G	uc002tuo.3	+	16	2132	c.1762_1762GC>G	c.(1762-1764)gccfs	p.A588fs	R3HDM1_uc010fni.3_Frame_Shift_Del_p.A587fs|R3HDM1_uc002tup.3_Frame_Shift_Del_p.A533fs|R3HDM1_uc010zbh.2_Frame_Shift_Del_p.A336fs	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	Homo sapiens R3H domain containing 1 (R3HDM1), mRNA.	588							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CATGACAGCAGCCcctccacc	0.597												
BAZ2B	29994	broad.mit.edu	37	2	160295137	160295138	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:160295136_160295137C>CT	uc002uao.3	-	7	1375_1376	c.970_971G>AG	c.(970-972)agafs	p.R324fs	BAZ2B_uc002uap.3_Frame_Shift_Ins_p.R322fs|BAZ2B_uc002uas.1_Frame_Shift_Ins_p.R261fs|BAZ2B_uc002uau.1_Frame_Shift_Ins_p.R322fs|BAZ2B_uc002uaq.1_Frame_Shift_Ins_p.R252fs|BAZ2B_uc002uat.4_3'UTR|BAZ2B_uc010fop.1_Frame_Shift_Ins_p.R322fs	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTGGTGTATTCTTTTTTCCTGG	0.416												
SCN1A	6323	broad.mit.edu	37	2	166852550	166852551	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:166852549_166852550G>GT	uc002udo.4	-	25	4781_4782	c.4554_4555C>AC	c.(4552-4557)aaaccgfs	p.K1518fs	SCN1A_uc010fpk.3_Frame_Shift_Ins_p.K1490fs|SCN1A_uc021vsb.1_Frame_Shift_Ins_p.K1507fs	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1518						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGCTTTTGCGGTTTTTTCGATC	0.327												
HOXD8	3234	broad.mit.edu	37	2	176995417	176995418	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:176995416_176995417G>GC	uc002uko.3	+	0	949_950	c.322_323G>GC	c.(322-324)gccfs	p.A108fs	AX747372_uc002ukl.1_5'Flank|AX747372_uc002ukm.1_5'Flank|HOXD8_uc002ukn.3_Intron|HOXD8_uc002ukp.3_Frame_Shift_Ins_p.A108fs	NM_019558	NP_062458	P13378	HXD8_HUMAN	Homo sapiens homeobox D8 (HOXD8), transcript variant 1, mRNA.	108					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CTACCAGGCCGccccccctcct	0.743												
ERBB4	2066	broad.mit.edu	37	2	212248737	212248737	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:212248736_212248736AT>A	uc002veg.1	-	27	3629	c.3531_3531AT>T	c.(3529-3531)aatfs	p.N1177fs	ERBB4_uc002veh.1_Frame_Shift_Del_p.N1161fs|ERBB4_uc010zji.1_Frame_Shift_Del_p.N1167fs|ERBB4_uc010zjj.1_Frame_Shift_Del_p.N1151fs	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	1177					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GAAGGTCTCCATTTTTTCTCC	0.403										TSP Lung(8;0.080)		
BARD1	580	broad.mit.edu	37	2	215645975	215645976	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:215645974_215645975C>CT	uc002veu.2	-	3	758_759	c.623_624G>AG	c.(622-624)aagfs	p.K208fs	BARD1_uc021vwe.1_Frame_Shift_Ins_p.K189fs|BARD1_uc021vwf.1_Frame_Shift_Ins_p.K111fs|BARD1_uc021vwg.1_Intron|BARD1_uc021vwh.1_Intron|BARD1_uc021vwi.1_Intron|BARD1_uc021vwc.1_Intron|BARD1_uc021vwd.1_Intron|BARD1_uc010zjm.1_Frame_Shift_Ins_p.K64fs|BARD1_uc021vwj.1_Frame_Shift_Ins_p.K208fs	NM_000465	NP_000456	Q99728	BARD1_HUMAN	Homo sapiens BRCA1 associated RING domain 1 (BARD1), mRNA.	208					DNA repair|cell cycle arrest|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	RNA binding|kinase binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTAAAGTTTTCTTTTTTTGCTT	0.386									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome			
TNS1	7145	broad.mit.edu	37	2	218683470	218683471	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:218683469_218683470T>TC	uc002vgt.2	-	23	3671_3672	c.3273_3274A>GA	c.(3271-3276)gggagtfs	p.G1091fs	TNS1_uc002vgr.2_Frame_Shift_Ins_p.G1078fs|TNS1_uc002vgs.2_Frame_Shift_Ins_p.G1070fs|TNS1_uc010zjv.1_Frame_Shift_Ins_p.G1070fs	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	1091	Ser-rich.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GACGGGAAACTCCCCACTGAAG	0.619												
ZNF142	7701	broad.mit.edu	37	2	219508052	219508052	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:219508051_219508051TG>T	uc002vin.3	-	7	3624	c.3188_3188CA>A	c.(3187-3189)cagfs	p.Q1063fs	ZNF142_uc002vil.3_Frame_Shift_Del_p.Q1024fs|ZNF142_uc010fvt.3_Frame_Shift_Del_p.Q900fs|ZNF142_uc002vim.3_Frame_Shift_Del_p.Q900fs	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	1063					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGCTGGGTCTGGGGGGTCCC	0.602												
ABCB6	10058	broad.mit.edu	37	2	220081103	220081103	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:220081102_220081102AC>A	uc002vkc.2	-	3	2733	c.954_954GT>T	c.(952-954)ggtfs	p.G318fs	ABCB6_uc010fwe.2_Frame_Shift_Del_p.G272fs|ABCB6_uc010zku.1_Non-coding_Transcript	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 6 (ABCB6), nuclear gene encoding mitochondrial protein, mRNA.	318	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	p.G318fs*9(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCCAGTGCCACCCCCCTGGA	0.567												
DOCK10	55619	broad.mit.edu	37	2	225729690	225729690	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:225729689_225729689GC>G	uc010fwz.1	-	11	1612	c.1373_1373GC>C	c.(1372-1374)gctfs	p.A458fs	DOCK10_uc002vob.2_Frame_Shift_Del_p.A452fs|DOCK10_uc002vod.1_Frame_Shift_Del_p.A458fs	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	458							GTP binding	p.G457V(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGCCACAGAAGCCCCCAAGAG	0.463												
TRIP12	9320	broad.mit.edu	37	2	230652221	230652221	+	Splice_Site	DEL	T	T	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:230652220_230652220CT>C	uc002vpx.1	-	33	5023	c.4914_splice	c.e33+1	p.K1638_splice	TRIP12_uc021vxw.1_Splice_Site_p.K1623_splice|TRIP12_uc002vpy.1_Splice_Site_p.K1320_splice|TRIP12_uc002vpw.1_Splice_Site_p.K1590_splice	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	1590					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		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)		GAGAAACTTACTTTTTTTCTA	0.363												
COL6A3	1293	broad.mit.edu	37	2	238242176	238242176	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr2:238242175_238242175TG>T	uc002vwl.2	-	41	9531	c.9246_9246CA>A	c.(9244-9246)ccafs	p.P3082fs	COL6A3_uc002vwo.2_Frame_Shift_Del_p.P2876fs|COL6A3_uc010znj.1_Frame_Shift_Del_p.P2475fs|COL6A3_uc002vwj.2_Frame_Shift_Del_p.P463fs	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	3082	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCTGTGGAGGTGGGGGCTGAG	0.433												
GALNTL2	117248	broad.mit.edu	37	3	16252681	16252682	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:16252680_16252681C>CA	uc003car.4	+	4	1604_1605	c.1129_1130C>CA	c.(1129-1131)caafs	p.Q377fs	GALNTL2_uc003caq.4_Frame_Shift_Ins_p.Q110fs	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	377	Catalytic subdomain B.					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						ACATTACTTCCAAAACACTGGA	0.554												
TRIM71	131405	broad.mit.edu	37	3	32932421	32932422	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:32932420_32932421C>CA	uc003cff.3	+	3	1787_1788	c.1724_1725C>CA	c.(1723-1725)cctfs	p.P575fs		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	575					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAGAACAGCCCTTTCAAGGTGG	0.599												
DCLK3	85443	broad.mit.edu	37	3	36779824	36779824	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:36779823_36779823TG>T	uc003cgi.2	-	1	819	c.328_328CA>A	c.(328-330)aggfs	p.R110fs		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	110						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GTGGCTTCCCTGGGGGGCTTG	0.562												
DHX30	22907	broad.mit.edu	37	3	47859553	47859553	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:47859552_47859552AC>A	uc003cru.3	+	3	495	c.69_69AC>A	c.(67-69)ccafs	p.P23fs	DHX30_uc003crs.2_5'UTR|DHX30_uc003crt.3_5'UTR	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	23						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		aacttcccccaccccgccttc	0.617												
COL7A1	1294	broad.mit.edu	37	3	48621801	48621801	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:48621800_48621800AG>A	uc003ctz.2	-	35	4129	c.4128_4128CT>T	c.(4126-4128)cctfs	p.P1376fs		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1376	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CACGAGGTCCAGGGGGGCCCT	0.627												
VPRBP	9730	broad.mit.edu	37	3	51457448	51457448	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:51457447_51457447GT>G	uc003dbe.2	-	13	3003	c.2818_2818AC>C	c.(2818-2820)cagfs	p.Q940fs	VPRBP_uc021wys.1_Frame_Shift_Del_p.Q939fs|VPRBP_uc003dbf.1_Frame_Shift_Del_p.Q269fs	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	993					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CTGTCCAGCTGTTTTTTTATG	0.502												
ITIH1	3697	broad.mit.edu	37	3	52825871	52825872	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:52825870_52825871T>TG	uc003dfs.3	+	21	2709_2710	c.2679_2680T>TG	c.(2677-2682)aatgggfs	p.N893fs	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Frame_Shift_Ins_p.N751fs|ITIH1_uc021wzg.1_Frame_Shift_Ins_p.N605fs|ITIH1_uc021wzh.1_Frame_Shift_Ins_p.N605fs|ITIH1_uc003dft.3_Frame_Shift_Ins_p.W485fs|ITIH3_uc003dfv.2_5'Flank|ITIH3_uc011bek.1_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	893	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TTCACAACAATGGGGCTGGACT	0.584												
EPHA6	285220	broad.mit.edu	37	3	97311563	97311563	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:97311562_97311562GC>G	uc010how.1	+	11	2536	c.2493_2493GC>G	c.(2491-2493)ttgfs	p.L831fs	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_Frame_Shift_Del_p.L197fs|EPHA6_uc003drs.4_Frame_Shift_Del_p.L223fs|EPHA6_uc003drr.4_Frame_Shift_Del_p.L223fs|EPHA6_uc003drt.3_Frame_Shift_Del_p.L223fs|EPHA6_uc010hox.1_Intron	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	736	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GAGGATCTTTGCCCCCCAGGA	0.532												
OR5K2	402135	broad.mit.edu	37	3	98217288	98217288	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:98217287_98217287AT>A	uc011bgx.2	+	0	763	c.763_763AT>A	c.(763-765)attfs	p.I255fs		NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 2 (OR5K2), mRNA.	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CTATGGATCTATTTTTTTCCT	0.338												
ZBTB20	26137	broad.mit.edu	37	3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:114058002_114058002AG>A	uc003ebi.3	-	4	2256	c.2076_2076CT>T	c.(2074-2076)cctfs	p.P692fs	ZBTB20_uc003ebj.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.3_Frame_Shift_Del_p.P619fs	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTGTGCCTGCAGGGGGGGTCC	0.632												
ALDH1L1	10840	broad.mit.edu	37	3	125877315	125877315	+	Frame_Shift_Del	DEL	G	G	-	rs139977408		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:125877314_125877314CG>C	uc003eim.1	-	2	486	c.296_296CG>G	c.(295-297)cggfs	p.R99fs	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Frame_Shift_Del_p.R99fs|ALDH1L1_uc003eio.3_5'Flank|ALDH1L1_uc010hsf.1_Frame_Shift_Del_p.R125fs|ALDH1L1_uc003eip.1_Frame_Shift_Del_p.R8fs|ALDH1L1_uc011bkj.1_Intron	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	99	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.R99R(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GGAGCCATGCCGGGGGGCACT	0.597												
SERPINI1	5274	broad.mit.edu	37	3	167507159	167507159	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:167507158_167507158TA>T	uc003ffa.4	+	1	440	c.242_242TA>T	c.(241-243)ctafs	p.L81fs	SERPINI1_uc003ffb.4_Frame_Shift_Del_p.L81fs	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	81					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.L81Q(2)|p.S80I(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TATGACAGCCTAAAAAATGGT	0.388												
UTS2D	257313	broad.mit.edu	37	3	190999911	190999912	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:190999910_190999911T>TA	uc003fsu.3	-	4	855_856	c.68_69A>TA	c.(67-69)ttafs	p.L23fs		NM_198152	NP_937795	Q765I0	UTS2B_HUMAN	Homo sapiens urotensin 2 domain containing (UTS2D), mRNA.	23						extracellular region	hormone activity			lung(5)|skin(1)|stomach(2)	8	all_cancers(143;1.77e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000214)		GCACAGATTGTAAAAAACTCAA	0.361												
ATP13A5	344905	broad.mit.edu	37	3	192997235	192997236	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:192997234_192997235G>GA	uc011bsq.2	-	27	3235_3236	c.3235_3236C>TC	c.(3235-3237)tcafs	p.S1079fs		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	1079					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CAGCAGAAATGAAAATATATCT	0.351												
ATP13A3	79572	broad.mit.edu	37	3	194180670	194180670	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:194180669_194180669AT>A	uc003fty.4	-	3	659	c.257_257AT>T	c.(256-258)attfs	p.I86fs		NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	86					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		AAGAACGCGAATTTTTGCACA	0.328												
MUC4	4585	broad.mit.edu	37	3	195488396	195488397	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:195488395_195488396T>TG	uc021xjp.1	-	14	14729_14730	c.14573_14574A>CA	c.(14572-14574)ccafs	p.P4858fs	MUC4_uc003fuz.3_Frame_Shift_Ins_p.P456fs|MUC4_uc003fva.3_Frame_Shift_Ins_p.P338fs|MUC4_uc003fvb.3_Frame_Shift_Ins_p.P374fs|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Frame_Shift_Ins_p.P374fs|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Frame_Shift_Ins_p.P367fs|MUC4_uc021xjn.1_Frame_Shift_Ins_p.P547fs|MUC4_uc021xjo.1_Frame_Shift_Ins_p.P338fs|MUC4_uc021xjg.1_Frame_Shift_Ins_p.P338fs|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Frame_Shift_Ins_p.P422fs|MUC4_uc021xjj.1_Frame_Shift_Ins_p.P422fs|MUC4_uc021xjk.1_Frame_Shift_Ins_p.P599fs|MUC4_uc021xjl.1_Frame_Shift_Ins_p.P338fs|MUC4_uc003fvo.3_Frame_Shift_Ins_p.P622fs|MUC4_uc003fvp.3_Frame_Shift_Ins_p.P571fs	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1615					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CAGGGCTCCCTGGGGGAATGGT	0.599												
ZDHHC19	131540	broad.mit.edu	37	3	195925221	195925221	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr3:195925220_195925220TG>T	uc003fwc.3	-	6	990	c.876_876CA>A	c.(874-876)ccafs	p.P292fs	ZDHHC19_uc010iaa.3_Non-coding_Transcript|ZDHHC19_uc010hzz.3_Non-coding_Transcript|ZDHHC19_uc010iab.3_Intron	NM_001039617	NP_001034706	Q8WVZ1	ZDH19_HUMAN	Homo sapiens zinc finger, DHHC-type containing 19 (ZDHHC19), mRNA.	292						integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		AGGTTGGGGCTGGGGGGTTGA	0.627												
FAM193A	8603	broad.mit.edu	37	4	2661593	2661593	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:2661592_2661592AC>A	uc010ick.3	+	8	1284	c.1283_1283AC>A	c.(1282-1284)gacfs	p.D428fs	FAM193A_uc003gfd.3_Frame_Shift_Del_p.D228fs|FAM193A_uc011bvm.2_Frame_Shift_Del_p.D252fs|FAM193A_uc011bvn.2_Frame_Shift_Del_p.D228fs|FAM193A_uc010icl.3_Frame_Shift_Del_p.D228fs|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Frame_Shift_Del_p.D82fs	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	228										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGTATCATGGACCCCCCCGTC	0.522												
ABLIM2	84448	broad.mit.edu	37	4	8089996	8089996	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:8089995_8089995CG>C	uc003gko.3	-	3	498	c.355_355CG>G	c.(355-357)gggfs	p.G119fs	ABLIM2_uc003gkm.4_Frame_Shift_Del_p.G119fs|ABLIM2_uc003gkp.3_Frame_Shift_Del_p.G119fs|ABLIM2_uc003gkq.3_Frame_Shift_Del_p.G119fs|ABLIM2_uc003gkr.3_Frame_Shift_Del_p.G119fs|ABLIM2_uc003gkj.4_Frame_Shift_Del_p.G119fs|ABLIM2_uc003gks.3_Frame_Shift_Del_p.G119fs|ABLIM2_uc011bwl.1_Frame_Shift_Del_p.G124fs	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.	119	LIM zinc-binding 2.				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						ACTCGGTCCCCGGGGGGGAAG	0.652												
TLR1	7096	broad.mit.edu	37	4	38800054	38800055	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:38800053_38800054CTT>C	uc003gtl.3	-	3	673_674	c.399_400AAG>G	c.(397-402)aaagagfs	p.K133fs	TLR1_uc021xnn.1_Frame_Shift_Del_p.K133fs	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	133					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTGCCAAACTCTTTGCATATAG	0.421												
ATP10D	57205	broad.mit.edu	37	4	47538491	47538491	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:47538490_47538490AT>A	uc003gxk.1	+	7	1216	c.1052_1052AT>A	c.(1051-1053)catfs	p.H351fs	ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Frame_Shift_Del_p.H351fs	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	351					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GAAAAGATGCATTTTTTCAAT	0.343												
EPHA5	2044	broad.mit.edu	37	4	66467646	66467646	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:66467645_66467645CT>C	uc003hcy.3	-	2	817	c.624_624AG>G	c.(622-624)aagfs	p.K208fs	EPHA5_uc003hcx.3_Frame_Shift_Del_p.K139fs|EPHA5_uc003hcz.3_Frame_Shift_Del_p.K208fs|EPHA5_uc011cah.2_Frame_Shift_Del_p.K208fs|EPHA5_uc011cai.2_Frame_Shift_Del_p.K208fs|EPHA5_uc003hda.2_Frame_Shift_Del_p.K208fs	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	208					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	p.K208_G209>N*(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GATAAAATCCCTTTTTGCTTA	0.418										TSP Lung(17;0.13)		
SPARCL1	8404	broad.mit.edu	37	4	88420707	88420707	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:88420706_88420706GA>G	uc010ikm.3	-	2	593	c.21_21TC>C	c.(19-21)ttcfs	p.F7fs	SPARCL1_uc011cdc.2_Intron|SPARCL1_uc003hqs.4_Frame_Shift_Del_p.F7fs|SPARCL1_uc011cdd.2_5'UTR	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN	Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.	7					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	p.F7fs*29(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		AGAGACATAGGAAAAAAAGCC	0.383												
ABCG2	9429	broad.mit.edu	37	4	89028360	89028360	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:89028359_89028359AT>A	uc003hrg.3	-	9	1747	c.1254_1254AT>T	c.(1252-1254)aatfs	p.N418fs	ABCG2_uc003hrh.3_Frame_Shift_Del_p.N418fs|ABCG2_uc003hrf.3_Frame_Shift_Del_p.N286fs	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	418	ABC transmembrane type-2.	Not glycosylated.			cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		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)	CAGTAGAATCATTTTTTAGCC	0.333												
TET2	54790	broad.mit.edu	37	4	106155661	106155661	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:106155660_106155660GA>G	uc011cez.2	+	2	1029	c.624_624GA>G	c.(622-624)gggfs	p.G208fs	TET2_uc003hxk.3_Frame_Shift_Del_p.G187fs|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Frame_Shift_Del_p.G187fs|TET2_uc010ilp.2_Frame_Shift_Del_p.G187fs|TET2_uc021xql.1_Frame_Shift_Del_p.G187fs	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	187					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGCAGGAGGGGAAAAGTGCTA	0.413			"""Mis N, F"""		MDS							
SCLT1	132320	broad.mit.edu	37	4	129869675	129869676	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:129869674_129869675C>CT	uc003igp.2	-	14	1775_1776	c.1269_1270G>AG	c.(1267-1272)aaagcafs	p.K423fs	SCLT1_uc003ign.2_Frame_Shift_Ins_p.K87fs|SCLT1_uc003igo.2_Frame_Shift_Ins_p.K33fs|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	423						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TCTTCCACTGCTTTTTTTTCCT	0.332												
FHDC1	85462	broad.mit.edu	37	4	153896924	153896924	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:153896923_153896923GC>G	uc003inf.2	+	10	2555	c.2480_2480GC>G	c.(2479-2481)agcfs	p.S827fs		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	827					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)					CCTACATCCAGCCCCCCTGGG	0.632												
RAPGEF2	9693	broad.mit.edu	37	4	160253755	160253755	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:160253754_160253754CA>C	uc003iqg.4	+	10	1867	c.1557_1557CA>C	c.(1555-1557)aacfs	p.N519fs		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	519					MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AAAAAGTGAACAAAAAAAGTA	0.418												
AGA	175	broad.mit.edu	37	4	178352896	178352896	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr4:178352895_178352895AT>A	uc003iuu.2	-	8	1136	c.1008_1008AT>T	c.(1006-1008)aatfs	p.N336fs	AGA_uc010irt.2_Non-coding_Transcript|AGA_uc003iuw.3_Frame_Shift_Del_p.N326fs|AGA_uc003iuv.2_Non-coding_Transcript	NM_000027	NP_000018	P20933	ASPG_HUMAN	Homo sapiens aspartylglucosaminidase (AGA), transcript variant 1, mRNA.	336					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		CAGTTGGCTGATTTTTTTCGG	0.368												
ZDHHC11	79844	broad.mit.edu	37	5	825347	825347	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:825346_825346AG>A	uc011cma.1	-	7	1340	c.956_956CT>T	c.(955-957)ctgfs	p.L319fs	ZDHHC11_uc010itc.3_5'Flank|ZDHHC11_uc010itd.1_Non-coding_Transcript	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	Homo sapiens zinc finger, DHHC-type containing 11 (ZDHHC11), mRNA.	319						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GTGAATCAGCAGGGAGCTCTT	0.557												
SLC30A5	64924	broad.mit.edu	37	5	68398896	68398896	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:68398895_68398895AT>A	uc003jvh.3	+	2	520	c.213_213AT>A	c.(211-213)gcafs	p.A71fs	SLC30A5_uc003jvg.3_Frame_Shift_Del_p.A71fs|SLC30A5_uc011crc.2_Frame_Shift_Del_p.A30fs|SLC30A5_uc003jvi.3_5'UTR	NM_022902	NP_075053	Q8TAD4	ZNT5_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 5 (SLC30A5), transcript variant 1, mRNA.	71					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	Golgi apparatus|apical plasma membrane|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		ACAGGACTGCATTTTTTATGG	0.279												
DNAJC18	202052	broad.mit.edu	37	5	138764375	138764375	+	Splice_Site	DEL	A	A	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:138764374_138764374TA>T	uc003len.3	-	3	308	c.228_splice	c.e3-1	p.R76_splice	DNAJC18_uc010jff.3_Splice_Site_p.R76_splice	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 18 (DNAJC18), mRNA.	76					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTCTTGATCCTAAAAAAAATC	0.373												
PCDHB10	56126	broad.mit.edu	37	5	140573738	140573738	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:140573737_140573737TC>T	uc003lix.3	+	0	1786	c.1612_1612TC>T	c.(1612-1614)tccfs	p.S538fs		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	538	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGACCGCGGCTCCCCCGCGCT	0.692												
FBXO38	81545	broad.mit.edu	37	5	147806940	147806941	+	Frame_Shift_Ins	INS	-	-	A	rs78530338		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:147806939_147806940G>GA	uc003lpf.1	+	14	2202_2203	c.2082_2083G>GA	c.(2080-2085)aagaaafs	p.K694fs	FBXO38_uc003lpg.1_Frame_Shift_Ins_p.K694fs|FBXO38_uc003lph.2_Intron	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	694						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCTGAAAAGAAAAAAAACAA	0.500												
PDGFRB	5159	broad.mit.edu	37	5	149498364	149498364	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:149498363_149498363AG>A	uc003lro.3	-	20	3320	c.2851_2851CT>T	c.(2851-2853)ttcfs	p.F951fs	PDGFRB_uc010jhd.3_Frame_Shift_Del_p.F790fs	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	951	Protein kinase.				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 DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|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			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		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)	AGCTGGGAGAAGGGGGGCCGA	0.577			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""							
NDST1	3340	broad.mit.edu	37	5	149918819	149918820	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:149918818_149918819T>TCA	uc003lsk.4	+	6	1968_1969	c.1466_1467T>TCA	c.(1465-1467)ttcfs	p.F489fs	NDST1_uc011dcj.2_Frame_Shift_Ins_p.F489fs|NDST1_uc003lsl.3_Frame_Shift_Ins_p.F489fs	NM_001543	NP_001534	P52848	NDST1_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.	489	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCGGCCTCTTCACACACACCA	0.604												
FAT2	2196	broad.mit.edu	37	5	150923357	150923358	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:150923356_150923357C>CT	uc003lue.4	-	8	7344_7345	c.7331_7332G>AG	c.(7330-7332)aagfs	p.K2444fs		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2444	Cadherin 21.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTCCAGGTGCTTTTTGCAAAG	0.450												
SH3PXD2B	285590	broad.mit.edu	37	5	171781005	171781007	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr5:171781004_171781006TCTC>T	uc003mbr.3	-	8	842_844	c.671_673GAGA>A	c.(670-675)gagaag>gAag	p.K225del		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Homo sapiens SH3 and PX domains 2B (SH3PXD2B), mRNA.	225	SH3 2.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	SH2 domain binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACTGTGTACTTCTCCTCTGTGGG	0.562												
FOXQ1	94234	broad.mit.edu	37	6	1313402	1313402	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:1313401_1313401CT>C	uc003mtl.4	+	0	727	c.462_462CT>C	c.(460-462)cccfs	p.P154fs		NM_033260	NP_150285	Q9C009	FOXQ1_HUMAN	Homo sapiens forkhead box Q1 (FOXQ1), mRNA.	154					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|caspase regulator activity|double-stranded DNA binding|estrogen receptor 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|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		GCAAGTTCCCCTTTTTCCGCG	0.652												
DSP	1832	broad.mit.edu	37	6	7584027	7584027	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:7584026_7584026CA>C	uc003mxp.1	+	23	6810	c.6531_6531CA>C	c.(6529-6531)accfs	p.T2177fs	DSP_uc003mxq.1_Frame_Shift_Del_p.T1578fs|DSP_uc021yle.1_Frame_Shift_Del_p.T1734fs	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2177	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATCCAGTCACCAAAAAGAAGG	0.478												
NHLRC1	378884	broad.mit.edu	37	6	18122226	18122226	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:18122225_18122225CA>C	uc003ncl.1	-	0	627	c.613_613TG>G	c.(613-615)ggcfs	p.G205fs		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	Homo sapiens NHL repeat containing 1 (NHLRC1), mRNA.	205					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			TTGATCTGGCCAAAAAAATCA	0.522												
GABBR1	2550	broad.mit.edu	37	6	29599254	29599254	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:29599253_29599253TC>T	uc003nmt.4	-	2	545	c.209_209GA>A	c.(208-210)gagfs	p.E70fs	GABBR1_uc003nmu.4_Frame_Shift_Del_p.E70fs|GABBR1_uc011dlr.2_5'UTR|GABBR1_uc011dls.1_Frame_Shift_Del_p.E70fs	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	70	Sushi 1.				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	CACCTCGCGCTCCCCCCGGCA	0.632												
CCHCR1	54535	broad.mit.edu	37	6	31124699	31124699	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:31124698_31124698AG>A	uc003nsp.4	-	2	496	c.307_307CT>T	c.(307-309)tccfs	p.S103fs	CCHCR1_uc011dne.2_Frame_Shift_Del_p.S14fs|CCHCR1_uc003nsq.4_Intron|CCHCR1_uc003nsr.4_Frame_Shift_Del_p.S14fs|CCHCR1_uc010jsk.1_Frame_Shift_Del_p.S14fs|TCF19_uc003nss.3_5'Flank|TCF19_uc003nst.3_5'Flank	NM_001105564	NP_061925	Q8TD31	CCHCR_HUMAN	Homo sapiens coiled-coil alpha-helical rod protein 1 (CCHCR1), transcript variant 1, mRNA.	14			R -> W (in allele HCR*WWCC; associated with psoriasis; dbSNP:rs130065).		cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						TGAAAGTGGGAGGGGGGAATC	0.547												
HLA-C	3107	broad.mit.edu	37	6	31324917	31324917	+	Frame_Shift_Del	DEL	G	G	-	rs41553720		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:31324916_31324916CG>C	uc003nth.2	-	0	74	c.20_20CG>G	c.(19-21)cgafs	p.R7fs	HLA-C_uc003ntf.2_Frame_Shift_Del_p.R7fs|HLA-C_uc003ntg.1_5'Flank|HLA-C_uc003nti.1_5'Flank|HLA-C_uc010jsn.1_5'Flank|HLA-C_uc010jso.2_5'Flank|HLA-C_uc021yum.1_5'UTR	NM_005514	NP_005505	Q9TNN7	1C05_HUMAN	Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA.	7					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GAGGACGGTTCGGGGCGCCAT	0.687												
GPSM3	63940	broad.mit.edu	37	6	32159230	32159231	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:32159229_32159230G>GC	uc003oay.4	-	3	798_799	c.396_397C>GC	c.(394-399)gggcaafs	p.G132fs	PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.3_5'Flank|GPSM3_uc003oaz.3_Frame_Shift_Ins_p.G132fs	NM_022107	NP_071390	Q9Y4H4	GPSM3_HUMAN	Homo sapiens G-protein signaling modulator 3 (GPSM3), mRNA.	132	GoLoco 3.				signal transduction	cytoplasm	GTPase activator activity|protein binding			large_intestine(1)	1						AGGAGCTCTTGCCCCCCTGGAG	0.644												
COL11A2	1302	broad.mit.edu	37	6	33154510	33154511	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:33154509_33154510G>GC	uc003ocx.1	-	4	920_921	c.692_693C>GC	c.(691-693)ggcfs	p.G231fs	COL11A2_uc003ocy.1_Frame_Shift_Ins_p.G231fs|COL11A2_uc003ocz.1_Frame_Shift_Ins_p.G231fs|COL11A2_uc003oda.3_Frame_Shift_Ins_p.G231fs	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	231	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			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TTTCCCTCTGGCCCCCCTCGCA	0.554												
DDX43	55510	broad.mit.edu	37	6	74110047	74110047	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:74110046_74110046TA>T	uc003pgw.3	+	2	740	c.396_396TA>T	c.(394-396)gttfs	p.V132fs	DDX43_uc011dyn.1_Non-coding_Transcript	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	132						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						ACAATTTTGTTAAAAAGCTAG	0.318												
COL12A1	1303	broad.mit.edu	37	6	75797397	75797398	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:75797396_75797397A>AG	uc021zbv.1	-	63	9112_9113	c.9077_9078T>CT	c.(9076-9078)cctfs	p.P3026fs	COL12A1_uc021zbw.1_Frame_Shift_Ins_p.P1862fs|COL12A1_uc003phs.3_Frame_Shift_Ins_p.P3026fs|COL12A1_uc003pht.3_Frame_Shift_Ins_p.P1862fs	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	3026	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAGGACGGCCAGGGGGGCCAGG	0.550												
AKD1	221264	broad.mit.edu	37	6	109814599	109814600	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:109814598_109814599T>TGA	uc003ptn.2	-	40	5786_5787	c.5709_5710A>TCA	c.(5707-5712)ctcagafs	p.L1903fs	AKD1_uc011eas.1_Frame_Shift_Ins_p.L288fs	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	1903					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						TCTATATTTCTGAGAGAGAGAA	0.381												
RSPH4A	345895	broad.mit.edu	37	6	116950769	116950771	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:116950768_116950770GGAA>G	uc003pxe.2	+	3	1846_1848	c.1701_1703GGAA>G	c.(1699-1704)gaggaa>gaGa	p.567_568EE>E	RSPH4A_uc010kee.2_Intron	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	Homo sapiens radial spoke head 4 homolog A (Chlamydomonas) (RSPH4A), transcript variant 1, mRNA.	567	Glu-rich.				cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AAAAAAATgaggaagaagaagag	0.374									Kartagener syndrome			
PHACTR2	9749	broad.mit.edu	37	6	144086414	144086415	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:144086413_144086414C>CA	uc010khi.3	+	5	909_910	c.710_711C>CA	c.(709-711)tcafs	p.S237fs	PHACTR2_uc003qjq.4_Frame_Shift_Ins_p.S226fs|PHACTR2_uc010khh.3_Frame_Shift_Ins_p.S146fs|PHACTR2_uc003qjr.4_Frame_Shift_Ins_p.S157fs	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	226							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TCCTCTCATTCAAAAAAAACAA	0.396												
FRMD1	79981	broad.mit.edu	37	6	168461463	168461464	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr6:168461462_168461463T>TG	uc003qwo.4	-	8	1385_1386	c.1320_1321A>CA	c.(1318-1323)cccagcfs	p.P440fs	FRMD1_uc003qwm.4_Frame_Shift_Ins_p.P234fs|FRMD1_uc011egs.2_Frame_Shift_Ins_p.P211fs|FRMD1_uc011egt.2_Frame_Shift_Ins_p.P375fs|FRMD1_uc003qwn.4_Frame_Shift_Ins_p.P372fs	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	Homo sapiens FERM domain containing 1 (FRMD1), transcript variant 1, mRNA.	440						cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CCACGTGTGCTGGGGTGGCTGC	0.658												
FBXL18	80028	broad.mit.edu	37	7	5541183	5541183	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:5541182_5541182CG>C	uc003soo.2	-	2	812	c.718_718CG>G	c.(718-720)ggcfs	p.G240fs	FBXL18_uc003son.4_Frame_Shift_Del_p.G240fs	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	240									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		TTGATGTAGCCGGGGGCCAGG	0.652												
CYTH3	9265	broad.mit.edu	37	7	6204578	6204578	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:6204577_6204577AT>A	uc003spt.3	-	12	1302	c.1198_1198AT>T	c.(1198-1200)tagfs	p.*400fs	CYTH3_uc011jws.2_Frame_Shift_Del_p.*315fs	NM_004227	NP_004218	O43739	CYH3_HUMAN	Homo sapiens cytohesin 3 (CYTH3), mRNA.	0					regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						CAGGAAAGCTATTTTTTATTG	0.532												
CLDN4	1364	broad.mit.edu	37	7	73246063	73246063	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:73246062_73246062CG>C	uc003tzi.4	+	0	870	c.531_531CG>C	c.(529-531)ggcfs	p.G177fs	CLDN4_uc003tzh.1_Non-coding_Transcript	NM_001305	NP_001296	O14493	CLD4_HUMAN	Homo sapiens claudin 4 (CLDN4), mRNA.	177					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				TGCTCCTTGGCGGGGGGCTGC	0.637												
LRRC17	10234	broad.mit.edu	37	7	102584993	102584994	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:102584992_102584993G>GA	uc003vau.3	+	3	1653_1654	c.1264_1265G>GA	c.(1264-1266)gaafs	p.E422fs	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.3_3'UTR	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	Homo sapiens leucine rich repeat containing 17 (LRRC17), transcript variant 1, mRNA.	422					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						TGATGAATGGGAAAAAAAACAT	0.337												
TMEM139	135932	broad.mit.edu	37	7	142983891	142983891	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:142983890_142983890GT>G	uc003wcl.3	+	4	873	c.619_619GT>G	c.(619-621)gttfs	p.V207fs	CASP2_uc003wco.3_5'Flank|CASP2_uc003wcp.3_5'Flank|CASP2_uc011kta.2_5'Flank|CASP2_uc003wcq.3_5'Flank|TMEM139_uc022aoc.1_Frame_Shift_Del_p.V207fs|TMEM139_uc010lov.3_Frame_Shift_Del_p.V207fs|TMEM139_uc003wck.4_Frame_Shift_Del_p.V207fs|TMEM139_uc003wcn.3_Frame_Shift_Del_p.V64fs|TMEM139_uc022aod.1_Frame_Shift_Del_p.V64fs|TMEM139_uc003wcm.3_Frame_Shift_Del_p.V207fs	NM_001242774	NP_001229703	Q8IV31	TM139_HUMAN	Homo sapiens transmembrane protein 139 (TMEM139), transcript variant 3, mRNA.	207						integral to membrane				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					TGATGATAGTGTTTTTTATGA	0.502												
ABP1	26	broad.mit.edu	37	7	150558259	150558259	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:150558258_150558258TC>T	uc003why.1	+	5	6435	c.2217_2217TC>T	c.(2215-2217)cctfs	p.P739fs	ABP1_uc003whz.1_Frame_Shift_Del_p.P739fs|ABP1_uc003wia.1_Frame_Shift_Del_p.P758fs	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	739					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	GCTCGATGCCTCCCCCTTTTA	0.622												
MLL3	58508	broad.mit.edu	37	7	151856009	151856010	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:151856008_151856009C>CT	uc003wla.3	-	43	11828_11829	c.11609_11610G>AG	c.(11608-11610)aagfs	p.K3870fs	MLL3_uc003wkz.3_Frame_Shift_Ins_p.K2931fs|MLL3_uc003wkx.3_5'Flank|MLL3_uc003wky.3_Frame_Shift_Ins_p.K1379fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	3870					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)		CCTCTTCGTCCTTTTTCCTTTT	0.455			N		medulloblastoma							
MLL3	58508	broad.mit.edu	37	7	151874701	151874702	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr7:151874700_151874701T>TG	uc003wla.3	-	37	8056_8057	c.7837_7838A>CA	c.(7837-7839)cagfs	p.Q2613fs	MLL3_uc003wkz.3_Frame_Shift_Ins_p.Q1674fs|MLL3_uc003wky.3_Frame_Shift_Ins_p.Q122fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2613	Pro-rich.				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)		AGGTAGACCCTGGGGAGGTCGT	0.515			N		medulloblastoma							
ADAM28	10863	broad.mit.edu	37	8	24167473	24167474	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:24167472_24167473G>GA	uc003xdy.3	+	2	299_300	c.216_217G>GA	c.(214-219)ttgaaafs	p.L72fs	ADAM28_uc003xdx.3_Frame_Shift_Ins_p.L72fs|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	72					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.N75fs*15(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGCTTTATTTGAAAAAAAACAA	0.332												
INTS9	55756	broad.mit.edu	37	8	28633400	28633400	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:28633399_28633399TG>T	uc003xha.3	-	13	1739	c.1440_1440CA>A	c.(1438-1440)ccafs	p.P480fs	INTS9_uc011lav.2_Frame_Shift_Del_p.P456fs|INTS9_uc011law.2_Frame_Shift_Del_p.P459fs|INTS9_uc011lax.2_Frame_Shift_Del_p.P373fs|INTS9_uc010lvc.3_Non-coding_Transcript	NM_018250	NP_001166033	Q9NV88	INT9_HUMAN	Homo sapiens integrator complex subunit 9 (INTS9), transcript variant 1, mRNA.	480					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		GGGACTGGGCTGGGGGCGGCT	0.622												
FLJ43860	389690	broad.mit.edu	37	8	142506590	142506591	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr8:142506589_142506590A>AG	uc003ywi.2	-	1	173_174	c.92_93T>CT	c.(91-93)cctfs	p.P31fs	FLJ43860_uc011ljs.1_5'Flank|FLJ43860_uc010meu.1_5'Flank	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	31							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			ATGTGGAGACAGGGGGGGAGAT	0.554												
SPINK4	27290	broad.mit.edu	37	9	33246634	33246635	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:33246633_33246634TAG>T	uc003zsh.3	+	2	133_134	c.122_123TAG>T	c.(121-123)gtafs	p.V41fs		NM_014471	NP_055286	O60575	ISK4_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 4 (SPINK4), mRNA.	41	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			lung(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)			GAACACATGGTAGAGTCTCCAA	0.554												
DNAJB5	25822	broad.mit.edu	37	9	34996554	34996554	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:34996553_34996553AC>A	uc011los.2	+	2	1080	c.719_719AC>A	c.(718-720)gacfs	p.D240fs	DNAJB5_uc003zvs.3_Frame_Shift_Del_p.D202fs|DNAJB5_uc003zvt.3_Frame_Shift_Del_p.D168fs	NM_001135005	NP_036398	O75953	DNJB5_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 5 (DNAJB5), transcript variant 1, mRNA.	168					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			AAGGTGCAGGACCCCCCAGTG	0.622												
PCSK5	5125	broad.mit.edu	37	9	78804620	78804621	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:78804619_78804620C>CT	uc004akc.2	+	19	3121_3122	c.2583_2584C>CT	c.(2581-2586)ctcttafs	p.L861fs	PCSK5_uc004ajz.3_Frame_Shift_Ins_p.L861fs|PCSK5_uc004aka.3_Non-coding_Transcript|PCSK5_uc004akb.3_Frame_Shift_Ins_p.L135fs	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	861	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GTGGGTATCTCTTAGACTTAGG	0.391												
AGTPBP1	23287	broad.mit.edu	37	9	88236193	88236193	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:88236192_88236192AT>A	uc011lte.2	-	13	2127	c.2060_2060AT>T	c.(2059-2061)attfs	p.I687fs	AGTPBP1_uc004aod.4_Frame_Shift_Del_p.I301fs|AGTPBP1_uc011ltc.2_Frame_Shift_Del_p.I573fs|AGTPBP1_uc011ltd.2_Frame_Shift_Del_p.I675fs|AGTPBP1_uc010mqc.3_Frame_Shift_Del_p.I635fs	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	Homo sapiens ATP/GTP binding protein 1 (AGTPBP1), mRNA.	675					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	p.Q686E(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						ATCTTGAGCAATTTTTGTCCT	0.284												
ASPN	54829	broad.mit.edu	37	9	95236979	95236979	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:95236978_95236978GA>G	uc004ase.2	-	1	502	c.202_202TC>C	c.(202-204)ccafs	p.P68fs	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ASPN_uc010mqy.2_Frame_Shift_Del_p.P68fs	NM_017680	NP_060150	Q9BXN1	ASPN_HUMAN	Homo sapiens asporin (ASPN), transcript variant 1, mRNA.	68	LRRNT.				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						AGATCAAATGGAAAAAAATGG	0.368												
TMEM38B	55151	broad.mit.edu	37	9	108483828	108483829	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:108483827_108483828A>AT	uc004bcu.1	+	2	396_397	c.279_280A>AT	c.(277-282)acatttfs	p.T93fs	TMEM38B_uc010mtn.1_Intron	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN	Homo sapiens transmembrane protein 38B (TMEM38B), mRNA.	93						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						GGTATATTACATTTTTTTGCCC	0.342												
SVEP1	79987	broad.mit.edu	37	9	113241917	113241917	+	Splice_Site	DEL	T	T	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:113241916_113241916AT>A	uc010mtz.3	-	13	2824	c.2487_splice	c.e13+1	p.M829_splice	SVEP1_uc010mua.1_Splice_Site_p.M829_splice|SVEP1_uc004beu.2_Splice_Site_p.M829_splice	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	829					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			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						TTGATGTACCATTTTTCCCAG	0.388												
SPTAN1	6709	broad.mit.edu	37	9	131339207	131339208	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:131339206_131339207T>TG	uc004bvl.4	+	5	898_899	c.756_757T>TG	c.(754-759)tttgggfs	p.F252fs	SPTAN1_uc011mbg.2_Frame_Shift_Ins_p.F252fs|SPTAN1_uc011mbh.2_Frame_Shift_Ins_p.F264fs|SPTAN1_uc004bvm.4_Frame_Shift_Ins_p.F252fs|SPTAN1_uc004bvn.4_Frame_Shift_Ins_p.F252fs	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	252					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			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGAAGCTCTTTGGGGCAGCAGA	0.574												
NCS1	23413	broad.mit.edu	37	9	132980142	132980143	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:132980141_132980142T>TG	uc004bzi.2	+	2	206_207	c.120_121T>TG	c.(118-123)agtgggfs	p.S40fs	NCS1_uc010myz.1_Frame_Shift_Ins_p.S22fs	NM_014286	NP_055101	P62166	NCS1_HUMAN	Homo sapiens neuronal calcium sensor 1 (NCS1), transcript variant 1, mRNA.	40	EF-hand 1.				negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development	Golgi cisterna membrane|cell junction|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|protein binding			large_intestine(1)|lung(4)|stomach(1)	6						ACTGCCCCAGTGGGCAGCTGGA	0.550												
FUBP3	8939	broad.mit.edu	37	9	133506076	133506076	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr9:133506075_133506075AC>A	uc004bzr.1	+	12	1286	c.1178_1178AC>A	c.(1177-1179)aacfs	p.N393fs		NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 3 (FUBP3), mRNA.	393	KH 4.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		CTTCAGAGGAACCCCCCTCCC	0.587												
KIAA1217	56243	broad.mit.edu	37	10	24833919	24833919	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:24833918_24833918CG>C	uc001iru.4	+	19	5623	c.5220_5220CG>C	c.(5218-5220)agcfs	p.S1740fs	KIAA1217_uc001irs.3_Frame_Shift_Del_p.S1061fs|KIAA1217_uc001irt.4_Frame_Shift_Del_p.S1106fs|KIAA1217_uc010qcy.2_Frame_Shift_Del_p.S1171fs|KIAA1217_uc010qcz.2_Frame_Shift_Del_p.S1146fs|KIAA1217_uc001irw.3_Frame_Shift_Del_p.S890fs|KIAA1217_uc001irz.3_Frame_Shift_Del_p.S824fs|KIAA1217_uc001irx.3_Frame_Shift_Del_p.S1423fs|KIAA1217_uc001iry.3_Frame_Shift_Del_p.S864fs	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1740					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGGGCTCCAGCGGGGCCCCAC	0.607												
WAC	51322	broad.mit.edu	37	10	28908508	28908508	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:28908507_28908507TA>T	uc001iuf.3	+	13	2004	c.1916_1916TA>T	c.(1915-1917)ctafs	p.L639fs	WAC_uc001iud.3_Frame_Shift_Del_p.L594fs|WAC_uc001iue.3_Frame_Shift_Del_p.L329fs|WAC_uc001iug.3_Frame_Shift_Del_p.L536fs|WAC_uc001iuh.3_Frame_Shift_Del_p.L590fs	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	Homo sapiens WW domain containing adaptor with coiled-coil (WAC), transcript variant 1, mRNA.	639					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	RNA polymerase II core binding|chromatin binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						CTTGAAAAGCTAAAAAATCAG	0.318												
SYT15	83849	broad.mit.edu	37	10	46964014	46964015	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:46964013_46964014AAC>A	uc001jea.3	-	6	1102_1103	c.949_950GTT>T	c.(949-951)tttfs	p.F317fs	SYT15_uc001jdz.2_Frame_Shift_Del_p.F317fs|SYT15_uc001jeb.3_Frame_Shift_Del_p.F195fs|SYT15_uc010qfp.1_Non-coding_Transcript	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	317	C2 2.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CACTTTGACAAACACACCTAGG	0.564												
FAM13C	220965	broad.mit.edu	37	10	61011260	61011261	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:61011259_61011260C>CA	uc010qif.1	-	12	1841_1842	c.1775_1776G>TG	c.(1774-1776)ttgfs	p.L592fs	FAM13C_uc010qid.2_Intron|FAM13C_uc001jkn.3_Intron|FAM13C_uc001jko.3_Intron|FAM13C_uc010qie.2_Intron	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	0										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACCGTTCCTGCAAAAAATTGCA	0.356												
HELLS	3070	broad.mit.edu	37	10	96352051	96352052	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:96352050_96352051T>TA	uc009xuo.3	+	16	2075_2076	c.1970_1971T>TA	c.(1969-1971)ctafs	p.L657fs	HELLS_uc001kjs.3_Frame_Shift_Ins_p.L595fs|HELLS_uc001kjt.3_Frame_Shift_Ins_p.L611fs|HELLS_uc009xul.3_Frame_Shift_Ins_p.L513fs|HELLS_uc009xum.3_Frame_Shift_Ins_p.L481fs|HELLS_uc009xun.3_Frame_Shift_Ins_p.L487fs|HELLS_uc001kju.3_Frame_Shift_Ins_p.L250fs|HELLS_uc009xup.3_Non-coding_Transcript|HELLS_uc009xuq.3_Frame_Shift_Ins_p.L473fs|HELLS_uc009xur.3_Non-coding_Transcript	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	Homo sapiens helicase, lymphoid-specific (HELLS), mRNA.	611	Helicase C-terminal.				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		CTGCCAGAACTAAAAAAAAGAG	0.312												
INPP5F	22876	broad.mit.edu	37	10	121551681	121551682	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:121551680_121551681A>AT	uc001leo.3	+	5	840_841	c.624_625A>AT	c.(622-627)cgatttfs	p.R208fs	INPP5F_uc001len.4_3'UTR	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA.	208	SAC.						phosphoric ester hydrolase activity	p.R208Q(1)|p.W211fs*3(1)		breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TTGATGACCGATTTTTTTGGAA	0.351												
MKI67	4288	broad.mit.edu	37	10	129905112	129905113	+	Frame_Shift_Ins	INS	-	-	TG	rs145960091	by1000genomes	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:129905111_129905112C>CTG	uc001lke.3	-	12	5187_5188	c.4992_4993G>CAG	c.(4990-4995)acagagfs	p.T1664fs	MKI67_uc001lkf.3_Frame_Shift_Ins_p.T1304fs|MKI67_uc009yav.1_Frame_Shift_Ins_p.T1239fs|MKI67_uc009yaw.1_Frame_Shift_Ins_p.T814fs	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1664	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCTGTTGGCTCTGTGTGTGTGT	0.510												
MTG1	92170	broad.mit.edu	37	10	135233645	135233645	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr10:135233644_135233644AC>A	uc001lnd.3	+	10	1084	c.980_980AC>A	c.(979-981)cacfs	p.H327fs	MTG1_uc010qve.2_Frame_Shift_Del_p.H192fs	NM_138384	NP_612393	Q9BT17	MTG1_HUMAN	Homo sapiens mitochondrial GTPase 1 homolog (S. cerevisiae) (MTG1), nuclear gene encoding mitochondrial protein, mRNA.	327						mitochondrion	GTP binding|protein binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		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)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		CTGCGGGGCCACCCCCCGGCT	0.642												
CDHR5	53841	broad.mit.edu	37	11	618807	618807	+	Frame_Shift_Del	DEL	G	G	-	rs146283589		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:618806_618806TG>T	uc001lql.3	-	12	2020	c.1753_1753CA>A	c.(1753-1755)agtfs	p.S585fs	IRF7_uc001lqh.3_5'Flank|IRF7_uc001lqi.3_5'Flank|IRF7_uc010qwh.2_5'Flank|CDHR5_uc001lqj.3_Frame_Shift_Del_p.S585fs|CDHR5_uc009ycd.3_Frame_Shift_Del_p.S579fs|CDHR5_uc001lqk.3_Intron|CDHR5_uc009ycc.3_Frame_Shift_Del_p.S419fs	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	585	4 X 31 AA approximate tandem repeats.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S585G(2)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GTTCCCATACTGGGGGGCATC	0.682												
CDHR5	53841	broad.mit.edu	37	11	618999	618999	+	Frame_Shift_Del	DEL	C	C	-	rs2740375	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:618998_618998GC>G	uc001lql.3	-	12	1828	c.1561_1561GC>C	c.(1561-1563)cccfs	p.P521fs	IRF7_uc001lqh.3_5'Flank|IRF7_uc001lqi.3_5'Flank|IRF7_uc010qwh.2_5'Flank|CDHR5_uc001lqj.3_Frame_Shift_Del_p.P521fs|CDHR5_uc009ycd.3_Frame_Shift_Del_p.P515fs|CDHR5_uc001lqk.3_Intron|CDHR5_uc009ycc.3_Frame_Shift_Del_p.P355fs	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	521			P -> S (in dbSNP:rs2740375).		calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P521P(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GCACCCGGGGGCCCCCCGGGT	0.682												
C11orf46	120534	broad.mit.edu	37	11	30352754	30352755	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:30352753_30352754C>CA	uc001mso.1	+	1	422_423	c.258_259C>CA	c.(256-261)gccaaafs	p.A86fs		NM_152316	NP_689529	Q8N8R7	CK046_HUMAN	Homo sapiens chromosome 11 open reading frame 46 (C11orf46), mRNA.	86										cervix(1)|endometrium(1)|kidney(2)|lung(7)	11						AGAAATTAGCCAAAAAAAATTT	0.337												
PAMR1	25891	broad.mit.edu	37	11	35513670	35513670	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:35513669_35513669AC>A	uc001mwf.3	-	2	346	c.303_303GT>T	c.(301-303)ggtfs	p.G101fs	PAMR1_uc001mwg.3_Frame_Shift_Del_p.G101fs|PAMR1_uc010rew.2_Frame_Shift_Del_p.G101fs|PAMR1_uc010rex.2_Frame_Shift_Del_p.G61fs	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	101					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATG	0.522												
LRP4	4038	broad.mit.edu	37	11	46911510	46911510	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:46911509_46911509TG>T	uc001ndn.4	-	14	2321	c.2078_2078CA>A	c.(2077-2079)cagfs	p.Q693fs		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	693					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)		AGGTTGGCGCTGGGGGTGCAA	0.522											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
OR4C11	219429	broad.mit.edu	37	11	55371595	55371596	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:55371594_55371595CAG>C	uc010rii.2	-	0	280_281	c.255_256CTG>G	c.(253-258)tctgaafs	p.S85fs		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S85T(1)|p.L84F(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						ATTTTCTTTTCAGAGAGAGCAT	0.391												
SYT7	9066	broad.mit.edu	37	11	61291307	61291307	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:61291306_61291306GC>G	uc001nrv.3	-	6	952	c.900_900GC>C	c.(898-900)ggcfs	p.G300fs	SYT7_uc009ynr.3_Frame_Shift_Del_p.G375fs	NM_004200	NP_004191	O43581	SYT7_HUMAN	Homo sapiens synaptotagmin VII (SYT7), transcript variant 2, mRNA.	300	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TACCTGATGTGCCCCCGATGT	0.592												
MARK2	2011	broad.mit.edu	37	11	63670244	63670244	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:63670243_63670243AC>A	uc001nxw.3	+	12	1984	c.1405_1405AC>A	c.(1405-1407)accfs	p.T469fs	MARK2_uc001nxv.4_Frame_Shift_Del_p.T468fs|MARK2_uc001nxx.3_Frame_Shift_Del_p.T469fs|MARK2_uc001nxy.3_Frame_Shift_Del_p.T468fs|MARK2_uc001nxz.4_Frame_Shift_Del_p.T435fs|MARK2_uc009yoy.3_Frame_Shift_Del_p.T435fs	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	469					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GACCACCCCAACCCCCTCCAC	0.667												
ORAOV1	220064	broad.mit.edu	37	11	69488079	69488080	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:69488078_69488079T>TC	uc001opc.3	-	1	219_220	c.61_62A>GA	c.(61-63)gaafs	p.E21fs	ORAOV1_uc010rqi.1_Frame_Shift_Ins_p.E21fs|ORAOV1_uc009ysm.3_Non-coding_Transcript|ORAOV1_uc001opd.3_Intron|ORAOV1_uc001ope.1_Frame_Shift_Ins_p.E21fs	NM_153451	NP_703152	Q8WV07	ORAV1_HUMAN	Homo sapiens oral cancer overexpressed 1 (ORAOV1), mRNA.	21										NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			CCGATACCCTTCCCCATGAAAC	0.480												
PPFIA1	8500	broad.mit.edu	37	11	70183500	70183500	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:70183499_70183499CA>C	uc001opo.3	+	11	1672	c.1457_1457CA>C	c.(1456-1458)gcafs	p.A486fs	PPFIA1_uc001opn.2_Frame_Shift_Del_p.A486fs|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opq.1_Non-coding_Transcript	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	486					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GTTGAAAGTGCAAAAAAGCAG	0.338												
C11orf82	220042	broad.mit.edu	37	11	82644463	82644463	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:82644462_82644462CA>C	uc001ozt.3	+	5	2326	c.2082_2082CA>C	c.(2080-2082)accfs	p.T694fs	C11orf82_uc010rsr.2_Frame_Shift_Del_p.T393fs|C11orf82_uc010rss.2_Frame_Shift_Del_p.T393fs|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	694					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						CTGAGATTACCAAAAAATCAC	0.368												
FAM55A	120400	broad.mit.edu	37	11	114393134	114393135	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr11:114393133_114393134G>GT	uc001ppa.3	-	5	1191_1192	c.774_775C>AC	c.(772-777)aaacatfs	p.K258fs	FAM55A_uc010rxd.2_Frame_Shift_Ins_p.K107fs	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	Homo sapiens family with sequence similarity 55, member A (FAM55A), mRNA.	400						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	17		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)		GGATAGCTATGTTTTTTCCATT	0.386												
MLL2	8085	broad.mit.edu	37	12	49445526	49445526	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:49445525_49445525TG>T	uc001rta.4	-	9	1941	c.1941_1941CA>A	c.(1939-1941)ccafs	p.P647fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	647	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.P647fs*38(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						ATACCTCAGGTGGGGGGGACA	0.632			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
PRPF40B	25766	broad.mit.edu	37	12	50025258	50025258	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:50025257_50025257TC>T	uc001rur.1	+	1	155	c.92_92TC>T	c.(91-93)atcfs	p.I31fs	PRPF40B_uc001rup.1_Frame_Shift_Del_p.I53fs|PRPF40B_uc001ruq.1_Frame_Shift_Del_p.I25fs|PRPF40B_uc001rus.1_5'Flank	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	31	Pro-rich.				RNA splicing|mRNA processing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCACCAGCTATCCCCCCCATG	0.607												
ATF7	11016	broad.mit.edu	37	12	53928408	53928408	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:53928407_53928407TG>T	uc001sdy.3	-	4	493	c.472_472CA>A	c.(472-474)acafs	p.T158fs	ATF7_uc010sok.1_Non-coding_Transcript|ATF7_uc001sdz.3_Frame_Shift_Del_p.T147fs|ATF7_uc010sol.2_Frame_Shift_Del_p.T126fs	NM_001130059	NP_001123531	P17544	ATF7_HUMAN	Homo sapiens activating transcription factor 7 (ATF7), transcript variant 1, mRNA.	158	Transactivation domain.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						ATGGTGGGTGTGGGGGTAGAG	0.493												
ZFC3H1	196441	broad.mit.edu	37	12	72038781	72038781	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:72038780_72038780AT>A	uc001swo.2	-	3	1515	c.1156_1156AT>T	c.(1156-1158)tggfs	p.W386fs		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	386					RNA processing	intracellular	metal ion binding	p.K385fs*9(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTTTGTTGCCATTTTTTACTG	0.353												
MGAT4C	25834	broad.mit.edu	37	12	86374168	86374168	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:86374167_86374167CT>C	uc010sum.2	-	5	568	c.409_409AG>G	c.(409-411)ggafs	p.G137fs	MGAT4C_uc001tal.4_Frame_Shift_Del_p.G113fs|MGAT4C_uc001taj.4_Frame_Shift_Del_p.G113fs|MGAT4C_uc001tak.4_Frame_Shift_Del_p.G113fs|MGAT4C_uc001tai.4_Frame_Shift_Del_p.G113fs|MGAT4C_uc001tah.4_Frame_Shift_Del_p.G113fs	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	113					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.G113*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AAATAGTTTCCTTTTTTTCGC	0.328												
ATP2B1	490	broad.mit.edu	37	12	90028898	90028899	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:90028897_90028898G>GT	uc001tbh.3	-	2	718_719	c.537_538C>AC	c.(535-540)aaacagfs	p.K179fs	ATP2B1_uc001tbg.3_Frame_Shift_Ins_p.K179fs	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	179					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CCTCTAAACTGTTTTTCCTTAC	0.441												
SLC24A6	80024	broad.mit.edu	37	12	113758221	113758223	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:113758220_113758222TGAA>T	uc001tvc.3	-	6	818_820	c.608_610TTCA>A	c.(607-612)ttcagg>tAgg	p.203_204FR>*	SLC24A6_uc001tuz.3_5'Flank|SLC24A6_uc001tva.3_Non-coding_Transcript|SLC24A6_uc001tvb.3_Intron	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.	203					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						ACGATGTCCCTGAAGAAGGGCCT	0.621												
MLEC	9761	broad.mit.edu	37	12	121134158	121134159	+	In_Frame_Ins	INS	-	-	AAG			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:121134157_121134158A>AAAG	uc001tyy.1	+	4	839_840	c.688_689A>AAAG	c.(688-690)aaa>AAAGa	p.K230K		NM_014730	NP_055545	Q14165	MLEC_HUMAN	Homo sapiens malectin (MLEC), mRNA.	230					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						ATTGGagaagaaagaagaggaa	0.446												
P2RX4	5025	broad.mit.edu	37	12	121666642	121666643	+	Frame_Shift_Del	DEL	AC	AC	-	rs141679606	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:121666641_121666642GAC>G	uc001tzr.3	+	6	1023_1024	c.719_720GAC>G	c.(718-720)ggafs	p.G240fs	P2RX4_uc010szr.1_Non-coding_Transcript|P2RX4_uc010szs.1_Non-coding_Transcript|P2RX4_uc009zxc.3_Frame_Shift_Del_p.G213fs|P2RX4_uc010szt.2_Frame_Shift_Del_p.G139fs|P2RX4_uc009zxb.3_Non-coding_Transcript	NM_002560	NP_002551	Q99571	P2RX4_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 4 (P2RX4), mRNA.	240					endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding	p.E237fs*97(1)		breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GAGAACGCAGGACACAGTTTCC	0.564												
NCOR2	9612	broad.mit.edu	37	12	124832801	124832802	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:124832800_124832801T>TG	uc021rga.1	-	28	4042_4043	c.3925_3926A>CA	c.(3925-3927)catfs	p.H1309fs	NCOR2_uc021rgb.1_Frame_Shift_Ins_p.H1293fs|NCOR2_uc010tbb.2_Frame_Shift_Ins_p.H1302fs|NCOR2_uc010tbc.2_Frame_Shift_Ins_p.H1292fs|NCOR2_uc021rgc.1_Frame_Shift_Ins_p.H1292fs|NCOR2_uc010tba.2_Frame_Shift_Ins_p.H1310fs|NCOR2_uc001ugj.1_Frame_Shift_Ins_p.H1310fs	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1310					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGCCGTCTCATGGGGGGGTCCT	0.629											OREG0022238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZNF10	7556	broad.mit.edu	37	12	133732701	133732702	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr12:133732700_133732701G>GA	uc009zzb.3	+	4	1315_1316	c.868_869G>GA	c.(868-870)gaafs	p.E290fs	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.3_Frame_Shift_Ins_p.E290fs	NM_015394	NP_056209	P21506	ZNF10_HUMAN	Homo sapiens zinc finger protein 10 (ZNF10), mRNA.	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TCATACTGGAGAAAAACCCTAT	0.416												
C1QTNF9B	387911	broad.mit.edu	37	13	24465713	24465714	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:24465712_24465713T>TC	uc010tcw.2	-	2	737_738	c.717_718A>GA	c.(715-720)gggaaafs	p.G239fs	MIPEP_uc001uox.4_5'Flank|C1QTNF9B-AS1_uc001uoy.3_Intron|C1QTNF9B-AS1_uc009zzx.3_Intron|C1QTNF9B_uc010tcv.1_Intron|C1QTNF9B_uc001uoz.1_Intron|C1QTNF9B_uc010tcx.2_Frame_Shift_Ins_p.G239fs	NM_001007537	NP_001007538	B2RNN3	C1T9B_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9B (C1QTNF9B), mRNA.	239	C1q.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						CACGTGAATTTCCCCACTGCTG	0.421												
RBM26	64062	broad.mit.edu	37	13	79940836	79940837	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:79940835_79940836T>TG	uc001vkz.2	-	6	1081_1082	c.1067_1068A>CA	c.(1066-1068)ccafs	p.P356fs	RBM26_uc001vky.2_Frame_Shift_Ins_p.P356fs|RBM26_uc001vla.2_Frame_Shift_Ins_p.P356fs|RBM26_uc001vkx.2_Frame_Shift_Ins_p.P68fs|RBM26_uc001vlb.1_Non-coding_Transcript	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	Homo sapiens RNA binding motif protein 26 (RBM26), mRNA.	356	Pro-rich.				mRNA processing		RNA binding|nucleotide binding|protein binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GATTCACAGGTGGGGGTGTAAG	0.540												
ABCC4	10257	broad.mit.edu	37	13	95735449	95735449	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:95735448_95735448GA>G	uc001vmd.4	-	20	2751	c.2632_2632TC>C	c.(2632-2634)cttfs	p.L878fs	ABCC4_uc010afk.3_Frame_Shift_Del_p.L831fs	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	878	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TATCGCCGAAGAAAAATGAAA	0.458												
PCID2	55795	broad.mit.edu	37	13	113834514	113834514	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr13:113834513_113834513CT>C	uc021rmt.1	-	10	1062	c.981_981AG>G	c.(979-981)aagfs	p.K327fs	PCID2_uc001vtb.2_Frame_Shift_Del_p.K106fs|PCID2_uc021rmq.1_Frame_Shift_Del_p.K273fs|PCID2_uc021rmr.1_Frame_Shift_Del_p.K273fs|PCID2_uc021rms.1_Frame_Shift_Del_p.K273fs	NM_018386	NP_060856	Q5JVF3	PCID2_HUMAN	Homo sapiens PCI domain containing 2 (PCID2), transcript variant 3, mRNA.	273	PCI.				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			TCAGGTGATACTTTTTCAGGA	0.403												
TEP1	7011	broad.mit.edu	37	14	20846338	20846338	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:20846337_20846337AC>A	uc001vxe.3	-	38	5607	c.5567_5567GT>T	c.(5566-5568)gttfs	p.V1856fs	TEP1_uc010ahk.3_Frame_Shift_Del_p.V1199fs|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Frame_Shift_Del_p.V1748fs|TEP1_uc010tlh.1_Frame_Shift_Del_p.V194fs	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1856					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	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)		CACAGCCACAACCCCCCCAGG	0.627												
AP1G2	8906	broad.mit.edu	37	14	24036397	24036397	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:24036396_24036396TC>T	uc001wkl.2	-	1	465	c.128_128GA>A	c.(127-129)gacfs	p.D43fs	AP1G2_uc001wkk.3_Intron|AP1G2_uc001wkn.2_5'UTR|AX747770_uc001wko.1_Non-coding_Transcript|AP1G2_uc001wkp.1_5'Flank|AP1G2_uc010tnp.1_Frame_Shift_Del_p.D43fs|AP1G2_uc010aks.3_5'UTR|AP1G2_uc010akt.3_5'UTR|AP1G2_uc010tnq.1_Non-coding_Transcript	NM_003917	NP_003908	O75843	AP1G2_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 2 subunit (AP1G2), mRNA.	43					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GTGCACTGGGTCCCCGTCGCG	0.632											OREG0022606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NYNRIN	57523	broad.mit.edu	37	14	24877215	24877215	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:24877214_24877214GC>G	uc001wpf.4	+	2	656	c.338_338GC>G	c.(337-339)ggcfs	p.G113fs		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	113					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTGGTGCCTGGCCCCCCTGGC	0.657												
ARID4A	5926	broad.mit.edu	37	14	58817949	58817949	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:58817948_58817948GA>G	uc001xdp.3	+	15	1816	c.1562_1562GA>G	c.(1561-1563)agafs	p.R521fs	ARID4A_uc001xdo.3_Frame_Shift_Del_p.R521fs|ARID4A_uc001xdq.3_Frame_Shift_Del_p.R521fs|ARID4A_uc010apg.1_Frame_Shift_Del_p.R199fs	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	521					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTACTGGGGAGAAAAAATACA	0.328												
C14orf149	112849	broad.mit.edu	37	14	59946072	59946072	+	Splice_Site	DEL	A	A	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:59946071_59946071TA>T	uc001xee.1	-	2	548	c.509_splice	c.e2-1	p.D170_splice	C14orf149_uc010trx.1_Intron	NM_144581	NP_653182	Q96EM0	PRCM_HUMAN	Homo sapiens chromosome 14 open reading frame 149 (C14orf149), mRNA.	170							proline racemase activity			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.14)	L-Proline(DB00172)	CCATGAGATCTAAAAAAAAGA	0.333												
SYNE2	23224	broad.mit.edu	37	14	64586330	64586330	+	Splice_Site	DEL	A	A	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:64586329_64586329TA>T	uc001xgl.3	+	67	13253	c.13023_splice	c.e67+2	p.Q4341_splice	SYNE2_uc001xgm.3_Splice_Site_p.Q4341_splice|SYNE2_uc021ruh.1_Splice_Site_p.Q4356_splice|SYNE2_uc010apy.3_Splice_Site_p.Q726_splice|SYNE2_uc010apz.1_Splice_Site_p.Q233_splice	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	4341					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAAGATCAGGTAAAAAATGAC	0.423												
STON2	85439	broad.mit.edu	37	14	81743374	81743374	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr14:81743373_81743373GC>G	uc010tvu.2	-	3	2480	c.2282_2282GC>C	c.(2281-2283)gcafs	p.A761fs	STON2_uc001xvk.1_Frame_Shift_Del_p.A761fs|STON2_uc010tvt.2_Frame_Shift_Del_p.A558fs	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	761	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GCCAAAACTTGCCCCCCGGTT	0.522												
HERC1	8925	broad.mit.edu	37	15	63918306	63918307	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:63918305_63918306T>TG	uc002amp.3	-	70	13301_13302	c.13153_13154A>CA	c.(13153-13155)cagfs	p.Q4385fs		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	4385					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CGCCCCATACTGGGGGGGCACT	0.559												
CSNK1G1	53944	broad.mit.edu	37	15	64506165	64506165	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:64506164_64506164GT>G	uc002anf.3	-	5	1084	c.604_604AC>C	c.(604-606)cacfs	p.H202fs	CSNK1G1_uc002ane.3_Non-coding_Transcript|CSNK1G1_uc002ang.1_Frame_Shift_Del_p.H202fs|CSNK1G1_uc002anh.1_Frame_Shift_Del_p.H202fs|CSNK1G1_uc002anj.3_Frame_Shift_Del_p.H184fs	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN	Homo sapiens casein kinase 1, gamma 1 (CSNK1G1), mRNA.	202	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						TAAGGTATGTGTTTTTTGGTT	0.383												
AKAP13	11214	broad.mit.edu	37	15	86278855	86278855	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr15:86278854_86278854TA>T	uc002blv.1	+	31	7675	c.7505_7505TA>T	c.(7504-7506)ctafs	p.L2502fs	AKAP13_uc002blu.1_Frame_Shift_Del_p.L2506fs|AKAP13_uc002blw.1_Frame_Shift_Del_p.L967fs|AKAP13_uc002blx.1_Frame_Shift_Del_p.L747fs	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	2502	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GATAGTGGCCTAAAAAAGGTA	0.353												
MKL2	57496	broad.mit.edu	37	16	14340931	14340932	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:14340930_14340931G>GA	uc010uza.2	+	11	1968_1969	c.1813_1814G>GA	c.(1813-1815)gaafs	p.E605fs	MKL2_uc002dcg.3_Frame_Shift_Ins_p.E605fs|MKL2_uc002dcj.3_5'Flank	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	594					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACTTGAGGTTGAAAAACGAGGG	0.540												
ABCC6	368	broad.mit.edu	37	16	16251628	16251629	+	Frame_Shift_Ins	INS	-	-	G	rs72664233		TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:16251627_16251628A>AG	uc002den.4	-	26	3811_3812	c.3774_3775T>CT	c.(3772-3777)ccctggfs	p.P1258fs	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	1258					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CCCTGAGGCCAGGGGGGCTGAG	0.624												
ATP2A1	487	broad.mit.edu	37	16	28913640	28913641	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	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												
PRSS36	146547	broad.mit.edu	37	16	31151860	31151860	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:31151859_31151859CG>C	uc002ebd.3	-	12	2180	c.2121_2121CG>G	c.(2119-2121)ccgfs	p.P707fs	PRSS36_uc010vff.2_Frame_Shift_Del_p.P482fs|PRSS36_uc010vfg.2_Frame_Shift_Del_p.P702fs|PRSS36_uc010vfh.2_Intron	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	707	Peptidase S1 3.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						AGCTGGCCCCCGGGGGGATAC	0.697												
COG8	84342	broad.mit.edu	37	16	69364974	69364975	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:69364973_69364974C>CT	uc002ewy.2	-	4	1678_1679	c.1607_1608G>AG	c.(1606-1608)aagfs	p.K536fs	PDF_uc002ewx.1_5'Flank	NM_032382	NP_115758	Q96MW5	COG8_HUMAN	Homo sapiens component of oligomeric golgi complex 8 (COG8), mRNA.	536					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						GGTTACCGTACTTGGAGAGCTG	0.505												
ZFHX3	463	broad.mit.edu	37	16	72991758	72991759	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr16:72991757_72991758T>TCC	uc002fck.3	-	1	2960_2961	c.2287_2288A>GGA	c.(2287-2289)gagfs	p.E763fs	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	763					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)				GAAGACCTGCTCCCCCCCTCCA	0.624												
PAFAH1B1	5048	broad.mit.edu	37	17	2579802	2579802	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:2579801_2579801TA>T	uc002fuw.4	+	8	1471	c.903_903TA>T	c.(901-903)actfs	p.T301fs	PAFAH1B1_uc010ckb.2_Intron|PAFAH1B1_uc010vqz.2_Intron	NM_000430	NP_000421	P43034	LIS1_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) (PAFAH1B1), mRNA.	301	Interaction with dynein and dynactin.				G2/M transition of mitotic cell cycle|acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TTCTGTAGACTAAAAAAAGTG	0.358												
NLRP1	22861	broad.mit.edu	37	17	5462052	5462052	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:5462051_5462051CT>C	uc002gci.3	-	3	2520	c.1965_1965AG>G	c.(1963-1965)aagfs	p.K655fs	NLRP1_uc002gcg.1_Frame_Shift_Del_p.K655fs|NLRP1_uc002gch.4_Frame_Shift_Del_p.K655fs|NLRP1_uc002gck.3_Frame_Shift_Del_p.K655fs|NLRP1_uc002gcj.3_Frame_Shift_Del_p.K655fs|NLRP1_uc002gcl.3_Frame_Shift_Del_p.K655fs|NLRP1_uc010clh.3_Frame_Shift_Del_p.K655fs	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	655					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.K655*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CTTCTAGCGTCTTTTCCAAAT	0.448												
SLC47A1	55244	broad.mit.edu	37	17	19458976	19458977	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:19458975_19458976G>GA	uc002gvx.3	+	7	797_798	c.711_712G>GA	c.(709-714)gggaaafs	p.G237fs	SLC47A1_uc010vyy.1_Non-coding_Transcript|SLC47A1_uc002gvy.1_Frame_Shift_Ins_p.G237fs|SLC47A1_uc010vyz.1_Frame_Shift_Ins_p.G214fs|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Intron|SLC47A1_uc010vza.1_5'UTR|SLC47A1_uc010vzb.1_5'UTR|SLC47A1_uc010vzc.1_5'Flank|SNORA59B_uc002gvz.1_5'Flank	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	Homo sapiens solute carrier family 47, member 1 (SLC47A1), mRNA.	237						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					ACATCCTCGGGAAAAAACTGCA	0.510												
ALDH3A1	218	broad.mit.edu	37	17	19641649	19641649	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	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												
ULK2	9706	broad.mit.edu	37	17	19687070	19687071	+	Frame_Shift_Ins	INS	-	-	G	rs147422998	byFrequency	TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:19687069_19687070T>TG	uc002gwm.4	-	21	2909_2910	c.2400_2401A>CA	c.(2398-2403)cccagcfs	p.P800fs	ULK2_uc002gwn.3_Frame_Shift_Ins_p.P800fs	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN	Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.	800					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					CCCTCTAGGCTGGGGGGTGAAG	0.584												
RARA	5914	broad.mit.edu	37	17	38487554	38487554	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:38487553_38487553TC>T	uc021txb.1	+	0	445	c.83_83TC>T	c.(82-84)ttcfs	p.F28fs	RARA_uc002huk.2_Frame_Shift_Del_p.F28fs|RARA_uc002hul.4_Frame_Shift_Del_p.F28fs|RARA_uc010wfe.2_Frame_Shift_Del_p.F28fs	NM_001145301	NP_001138773	P10276	RARA_HUMAN	Homo sapiens retinoic acid receptor, alpha (RARA), transcript variant 3, mRNA.	28	Modulating.				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 T-helper 2 cell differentiation|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 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			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GCCTTCTTCTTCCCCCCTATG	0.632			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL							
HAP1	9001	broad.mit.edu	37	17	39888591	39888592	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:39888590_39888591CCT>C	uc002hxm.1	-	2	617_618	c.605_606AGG>G	c.(604-606)aggfs	p.R202fs	JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Frame_Shift_Del_p.R202fs|HAP1_uc002hxo.1_Frame_Shift_Del_p.R210fs|HAP1_uc002hxp.1_Frame_Shift_Del_p.R202fs	NM_177977	NP_817084	P54257	HAP1_HUMAN	Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.	202	HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TGTTCAGGTCCCTCTCTCTCTG	0.589												
AOC3	8639	broad.mit.edu	37	17	41004674	41004674	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:41004673_41004673TC>T	uc002ibv.3	+	0	1473	c.1313_1313TC>T	c.(1312-1314)ctcfs	p.L438fs		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	438					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	AACCAGGGCCTCCCCCTGCGG	0.552												
ADAM11	4185	broad.mit.edu	37	17	42837126	42837126	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:42837125_42837125TG>T	uc002ihh.3	+	1	97	c.97_97TG>T	c.(97-99)tggfs	p.W33fs	ADAM11_uc010wjd.2_5'UTR	NM_002390	NP_002381	O75078	ADA11_HUMAN	Homo sapiens ADAM metallopeptidase domain 11 (ADAM11), mRNA.	33					integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				AGCTCTGCGATGGGGGGGCTT	0.662												
ITGB3	3690	broad.mit.edu	37	17	45369918	45369918	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:45369917_45369917AG>A	uc002ilj.3	+	9	1693	c.1673_1673AG>A	c.(1672-1674)aagfs	p.K558fs	ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	558	Cysteine-rich tandem repeats.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	GTCCGCTACAAGGGGGAGATG	0.572												
RNF43	54894	broad.mit.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	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												
GAA	2548	broad.mit.edu	37	17	78090814	78090814	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr17:78090813_78090813TG>T	uc002jxp.3	+	15	2603	c.2236_2236TG>T	c.(2236-2238)tggfs	p.W746fs	GAA_uc002jxo.3_Frame_Shift_Del_p.W746fs|GAA_uc002jxq.3_Frame_Shift_Del_p.W746fs	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	746			W -> C (in dbSNP:rs1800312).		cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CCAGCTCCTGTGGGGGGAGGC	0.637												
PPP4R1	9989	broad.mit.edu	37	18	9593862	9593864	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:9593861_9593863GCCA>G	uc002koe.1	-	3	316_318	c.198_200TGGC>C	c.(196-201)gtggcc>gtCc	p.A67del	PPP4R1_uc010wzo.1_In_Frame_Del_p.A24del|PPP4R1_uc002kod.1_In_Frame_Del_p.A50del|PPP4R1_uc010wzp.1_Intron	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 1 (PPP4R1), transcript variant 1, mRNA.	67					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						CAAACTCCGGGCCACCATTTGTC	0.379												
ELP2	55250	broad.mit.edu	37	18	33736541	33736541	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:33736540_33736540GT>G	uc010xcg.2	+	13	1642	c.1582_1582GT>G	c.(1582-1584)gttfs	p.V528fs	ELP2_uc002kzk.2_Frame_Shift_Del_p.V463fs|ELP2_uc002kzl.2_Non-coding_Transcript|ELP2_uc002kzm.2_Frame_Shift_Del_p.V437fs|ELP2_uc010xch.2_Frame_Shift_Del_p.V458fs|ELP2_uc002kzn.2_Frame_Shift_Del_p.V393fs|ELP2_uc002kzo.2_Frame_Shift_Del_p.V393fs	NM_001242875	NP_001229804	Q6IA86	ELP2_HUMAN	Homo sapiens elongation protein 2 homolog (S. cerevisiae) (ELP2), transcript variant 1, mRNA.	463					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		p.T528T(1)		NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						AGTTCTTCGGGTTTTTTCTGC	0.368												
FHOD3	80206	broad.mit.edu	37	18	34205516	34205516	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	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												
DYM	54808	broad.mit.edu	37	18	46860144	46860146	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:46860143_46860145ACTT>A	uc002ldi.1	-	6	938_940	c.573_575AAGT>T	c.(571-576)gaagtt>gaTt	p.191_192EV>D	DYM_uc010xdf.1_Intron|DYM_uc002ldj.3_In_Frame_Del_p.13_14EV>D	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN	Homo sapiens dymeclin (DYM), mRNA.	191						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						CTGTCGCAAAACTTCTTTGTGGA	0.335												
RTTN	25914	broad.mit.edu	37	18	67863751	67863751	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:67863750_67863750GA>G	uc002lkp.2	-	6	896	c.828_828TC>C	c.(826-828)ttcfs	p.F276fs	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Frame_Shift_Del_p.F276fs	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	276							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GTTTATTGGAGAAAAAACCTG	0.398												
SOCS6	9306	broad.mit.edu	37	18	67992096	67992097	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:67992095_67992096G>GA	uc002lkr.1	+	1	507_508	c.191_192G>GA	c.(190-192)ggafs	p.G64fs	SOCS6_uc010dqq.2_Frame_Shift_Ins_p.G64fs|SOCS6_uc021ulj.1_Frame_Shift_Ins_p.G64fs	NM_004232	NP_004223	O14544	SOCS6_HUMAN	Homo sapiens suppressor of cytokine signaling 6 (SOCS6), mRNA.	64					JAK-STAT cascade|defense response|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GAAAAAGGCGGAAAAAACAGAT	0.470												
ZNF516	9658	broad.mit.edu	37	18	74091541	74091541	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr18:74091540_74091540TC>T	uc021ulp.1	-	3	2848	c.2530_2530GA>A	c.(2530-2532)atgfs	p.M844fs	ZNF516_uc002lmd.3_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	844					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G843V(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GACCCCGGCATCCCCCCTGGC	0.637												
CHERP	10523	broad.mit.edu	37	19	16641463	16641463	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:16641462_16641462GT>G	uc002nei.1	-	6	884	c.810_810AC>C	c.(808-810)aacfs	p.N270fs	MED26_uc002nee.2_Intron	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNA.	270	CID.				RNA processing|cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						CGAAGTAGCCGTTTTTCTCCC	0.632												
JAK3	3718	broad.mit.edu	37	19	17945961	17945961	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:17945960_17945960GC>G	uc002nhn.4	-	14	2079	c.1979_1979GC>C	c.(1978-1980)gctfs	p.A660fs	JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Frame_Shift_Del_p.A660fs	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	660	Protein kinase 1.				B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|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	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GCTCCCATCAGCCCCCTCCCG	0.642		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""							
C19orf12	83636	broad.mit.edu	37	19	30193800	30193800	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:30193799_30193799AG>A	uc002nsj.3	-	2	406	c.279_279CT>T	c.(277-279)cctfs	p.P93fs	C19orf12_uc002nsk.3_Frame_Shift_Del_p.P82fs|C19orf12_uc002nsl.3_3'UTR|C19orf12_uc002nsm.3_Non-coding_Transcript	NM_001031726	NP_113636	Q9NSK7	CS012_HUMAN	Homo sapiens chromosome 19 open reading frame 12 (C19orf12), transcript variant 1, mRNA.	82						integral to membrane						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			GTTGCTCGGCAGGGGGCAGCT	0.607												
TYROBP	7305	broad.mit.edu	37	19	36399123	36399123	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:36399122_36399122TC>T	uc002ocm.3	-	0	90	c.9_9GA>A	c.(7-9)ggafs	p.G3fs	TYROBP_uc002ocn.3_Frame_Shift_Del_p.G3fs|TYROBP_uc021uta.1_Frame_Shift_Del_p.G3fs|TYROBP_uc021utb.1_Frame_Shift_Del_p.G3fs|TYROBP_uc021utc.1_Non-coding_Transcript	NM_003332	NP_003323	O43914	TYOBP_HUMAN	Homo sapiens TYRO protein tyrosine kinase binding protein (TYROBP), transcript variant 1, mRNA.	3					axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response	integral to plasma membrane|intracellular	identical protein binding|receptor signaling protein activity			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGGTTCAAGTCCCCCCATGA	0.647												
ZNF233	353355	broad.mit.edu	37	19	44777229	44777229	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr19:44777228_44777228TC>T	uc021uvi.1	+	4	521	c.415_415TC>T	c.(415-417)tccfs	p.S139fs	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF233_uc002oyy.2_5'UTR|ZNF233_uc002oyz.2_Frame_Shift_Del_p.S139fs	NM_001207005	NP_001193934	A6NK53	ZN233_HUMAN	Homo sapiens zinc finger protein 233 (ZNF233), transcript variant 2, mRNA.	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				ACAAGGTGATTCCCCCTGTCA	0.378												
CHGB	1114	broad.mit.edu	37	20	5904507	5904508	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:5904506_5904507G>GA	uc002wmg.3	+	3	2022_2023	c.1716_1717G>GA	c.(1714-1719)gagaaafs	p.E572fs	CHGB_uc010zqz.2_Frame_Shift_Ins_p.E255fs	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	572						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						ACTGGTGGGAGAAAAAGCCCTT	0.485												
TP53RK	112858	broad.mit.edu	37	20	45315634	45315634	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:45315633_45315633AG>A	uc002xsk.3	-	1	744	c.521_521CT>T	c.(520-522)ctgfs	p.L174fs	SLC13A3_uc002xsg.2_5'Flank|SLC13A3_uc010gho.2_5'Flank|TP53RK_uc002xsj.3_3'UTR	NM_033550	NP_291028	Q96S44	PRPK_HUMAN	Homo sapiens TP53 regulating kinase (TP53RK), mRNA.	174	Protein kinase.				lipopolysaccharide biosynthetic process	membrane|nucleus	ATP binding|p53 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L174fs*23(2)		kidney(1)|large_intestine(1)|lung(4)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				CAGCTGTTCCAGGGGGGGTTT	0.493												
SYCP2	10388	broad.mit.edu	37	20	58490593	58490593	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:58490592_58490592AT>A	uc002yaz.3	-	7	666	c.527_527AT>T	c.(526-528)atgfs	p.M176fs	SYCP2_uc010gju.1_Frame_Shift_Del_p.M77fs	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	176					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CATAGCATTCATTTTTTTTAT	0.284												
TAF4	6874	broad.mit.edu	37	20	60575303	60575303	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr20:60575302_60575302GT>G	uc002ybs.3	-	10	2665	c.2665_2665AC>C	c.(2665-2667)catfs	p.H889fs		NM_003185	NP_003176	O00268	TAF4_HUMAN	Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.	889					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GTTATACCATGTTTTTTACCT	0.353												
TXNRD2	10587	broad.mit.edu	37	22	19882971	19882972	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:19882970_19882971C>CT	uc021wlj.1	-	10	941_942	c.908_909G>AG	c.(907-909)aagfs	p.K303fs	TXNRD2_uc002zqo.1_Non-coding_Transcript|TXNRD2_uc002zqr.1_Frame_Shift_Ins_p.K302fs|TXNRD2_uc010grv.1_Frame_Shift_Ins_p.K303fs|TXNRD2_uc002zqj.1_Non-coding_Transcript|TXNRD2_uc002zqs.2_Frame_Shift_Ins_p.K271fs	NM_006440		Q9NNW7	TRXR2_HUMAN	Homo sapiens thioredoxin reductase 2 (TXNRD2), nuclear gene encoding mitochondrial protein, mRNA.	303					cell redox homeostasis|response to oxygen radical	mitochondrion	NADP binding|flavin adenine dinucleotide binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					CCGTGTCCTCCTTGCCGGTGGT	0.649												
TNRC6B	23112	broad.mit.edu	37	22	40676019	40676019	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chr22:40676018_40676018AT>A	uc011aor.2	+	9	3493	c.3282_3282AT>A	c.(3280-3282)aaafs	p.K1094fs	TNRC6B_uc003aym.3_Frame_Shift_Del_p.K347fs|TNRC6B_uc003ayn.4_Frame_Shift_Del_p.K1041fs|TNRC6B_uc003ayo.3_Frame_Shift_Del_p.K898fs	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1094					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						CAGATAAAAAATTTGATGTGG	0.433												
BCOR	54880	broad.mit.edu	37	X	39931788	39931789	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:39931787_39931788T>TG	uc004den.4	-	3	3103_3104	c.2811_2812A>CA	c.(2809-2814)cccaccfs	p.P937fs	BCOR_uc004dep.4_Frame_Shift_Ins_p.P937fs|BCOR_uc004deo.4_Frame_Shift_Ins_p.P937fs|BCOR_uc004dem.4_Frame_Shift_Ins_p.P937fs|BCOR_uc004deq.4_Frame_Shift_Ins_p.P937fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	937					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.T936N(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TTGGTATAGGTGGGGGTCACAT	0.515			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic					
NAP1L2	4674	broad.mit.edu	37	X	72433106	72433107	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CG-4306-01A-01D-1158-08	TCGA-CG-4306-10A-01D-1158-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87515ac6-17e2-43ac-a6ed-af54e8fa3e8f	c6b012b4-95e2-4c81-a11d-931c8a2ba665	g.chrX:72433105_72433106G>GA	uc004ebi.3	-	0	1605_1606	c.1223_1224C>TC	c.(1222-1224)ttcfs	p.F408fs		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	408					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CATCACCTGAGAAAAATAATAC	0.356