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
PLCH2	9651	broad.mit.edu	37	1	2430597	2430597	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:2430597G>A	uc001aji.1	+	19	2783	c.2509G>A	c.(2509-2511)GTC>ATC	p.V837I	PLCH2_uc010nyz.1_Missense_Mutation_p.V625I|PLCH2_uc009vle.1_Missense_Mutation_p.V589I|PLCH2_uc001ajj.1_Missense_Mutation_p.V625I|PLCH2_uc001ajk.1_Missense_Mutation_p.V625I|PLCH2_uc001ajl.1_5'UTR	NM_014638	NP_055453	O75038	PLCH2_HUMAN	phospholipase C, eta 2	837	C2.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(3)|ovary(1)|skin(1)	5	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CCGCTTCCTCGTCTGGGACCA	0.647												
PRDM16	63976	broad.mit.edu	37	1	3102980	3102980	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:3102980T>C	uc001akf.2	+	2	409	c.329T>C	c.(328-330)CTG>CCG	p.L110P	PRDM16_uc001akc.2_Missense_Mutation_p.L110P|PRDM16_uc001akd.2_Missense_Mutation_p.L110P|PRDM16_uc001ake.2_Missense_Mutation_p.L110P|PRDM16_uc009vlh.2_5'UTR	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	110	SET.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GGGGAGAGGCTGGGCCCCTGC	0.637			T	EVI1	MDS|AML							
DFFB	1677	broad.mit.edu	37	1	3800085	3800085	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:3800085G>A	uc001alc.2	+	7	1120	c.797G>A	c.(796-798)CGC>CAC	p.R266H	DFFB_uc001ale.2_RNA|DFFB_uc009vlp.2_RNA|DFFB_uc001alb.2_RNA|DFFB_uc010nzn.1_Missense_Mutation_p.R290H|DFFB_uc009vlq.2_RNA|DFFB_uc009vlr.2_Missense_Mutation_p.R217H|DFFB_uc001ald.2_Missense_Mutation_p.R202H	NM_004402	NP_004393	O76075	DFFB_HUMAN	DNA fragmentation factor, 40 kD, beta	266					apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding				0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GAAAAGAAACGCACCATCATT	0.433												
CHD5	26038	broad.mit.edu	37	1	6188970	6188970	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:6188970A>G	uc001amb.1	-	23	3647	c.3547T>C	c.(3547-3549)TCC>CCC	p.S1183P	CHD5_uc001alz.1_Missense_Mutation_p.S40P|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1183	Helicase C-terminal.				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)		TTGGTCATGGACCCCGACTTG	0.657												
ESPN	83715	broad.mit.edu	37	1	6520165	6520165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:6520165C>T	uc001amy.2	+	13	2692	c.2524C>T	c.(2524-2526)CGA>TGA	p.R842*	ESPN_uc001amz.2_Nonsense_Mutation_p.R276*	NM_031475	NP_113663	B1AK53	ESPN_HUMAN	espin	842					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding				0	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GCCCTGGCAGCGACAGGTCAT	0.657												
NOL9	79707	broad.mit.edu	37	1	6589186	6589186	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:6589186C>T	uc001ans.2	-	10	1712	c.1693G>A	c.(1693-1695)GCC>ACC	p.A565T	NOL9_uc010nzs.1_RNA	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	565					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)		TGGGTAGGGGCGACATCAGAG	0.483												
TNFRSF9	3604	broad.mit.edu	37	1	7995165	7995165	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:7995165G>A	uc001aot.2	-	6	580	c.452C>T	c.(451-453)ACG>ATG	p.T151M		NM_001561	NP_001552	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily,	151	Extracellular (Potential).|TNFR-Cys 4.				induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCTCCTTCGTCCCATTCAC	0.493												
MTHFR	4524	broad.mit.edu	37	1	11852364	11852364	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:11852364G>A	uc001atc.1	-	10	1787	c.1603C>T	c.(1603-1605)CGG>TGG	p.R535W	MTHFR_uc001atb.1_Missense_Mutation_p.R558W	NM_005957	NP_005948	P42898	MTHR_HUMAN	5,10-methylenetetrahydrofolate reductase	535					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	TAATTAACCCGGAGCTCGTAC	0.468												
CLCN6	1185	broad.mit.edu	37	1	11898430	11898430	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:11898430C>T	uc001ate.3	+	21	2447	c.2334C>T	c.(2332-2334)GCC>GCT	p.A778A	CLCN6_uc010oat.1_Silent_p.A494A|CLCN6_uc010oau.1_Silent_p.A756A|CLCN6_uc010oav.1_5'Flank|CLCN6_uc010oaw.1_5'Flank|CLCN6_uc010oax.1_5'Flank|CLCN6_uc010oay.1_5'Flank|CLCN6_uc010oaz.1_5'Flank|CLCN6_uc010oba.1_5'Flank	NM_001286	NP_001277	P51797	CLCN6_HUMAN	chloride channel 6 isoform ClC-6a	778	Cytoplasmic (By similarity).				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CCGAGATGGCCGAGGACTACC	0.657											OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MFN2	9927	broad.mit.edu	37	1	12052705	12052705	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:12052705A>G	uc001atn.3	+	4	722	c.269A>G	c.(268-270)GAG>GGG	p.E90G	MFN2_uc009vni.2_Missense_Mutation_p.E90G	NM_014874	NP_055689	O95140	MFN2_HUMAN	mitofusin 2	90	Cytoplasmic (Potential).				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GGCATCAGTGAGGTGCTGGCT	0.537												
SPEN	23013	broad.mit.edu	37	1	16260928	16260928	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:16260928A>G	uc001axk.1	+	11	8397	c.8193A>G	c.(8191-8193)GCA>GCG	p.A2731A	SPEN_uc010obp.1_Silent_p.A2690A	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	2731	Interaction with RBPSUH (By similarity).				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTGCGAGTGCAGTGAATGCCA	0.597												
ATP13A2	23400	broad.mit.edu	37	1	17318354	17318354	+	Splice_Site	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:17318354C>A	uc001baa.2	-	20	2317	c.2127_splice	c.e20-1	p.R709_splice	ATP13A2_uc001azz.1_5'Flank|ATP13A2_uc001bab.2_Splice_Site_p.R704_splice|ATP13A2_uc001bac.2_Splice_Site_p.R704_splice	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1						ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CACAGTGTCCCTGGAGGGTGG	0.632												
AKR7L	246181	broad.mit.edu	37	1	19595104	19595104	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:19595104C>T	uc010ocx.1	-	7	796	c.796G>A	c.(796-798)GCC>ACC	p.A266T	AKR7L_uc010ocy.1_Missense_Mutation_p.G200D	NM_201252	NP_957704			aflatoxin B1 aldehyde reductase 3 isoform 1												0						CGGAGGGCGGCCGAGGTCATG	0.617												
HSPG2	3339	broad.mit.edu	37	1	22191813	22191813	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:22191813G>T	uc001bfj.2	-	35	4400	c.4360C>A	c.(4360-4362)CCT>ACT	p.P1454T	HSPG2_uc009vqd.2_Missense_Mutation_p.P1455T	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	1454	Laminin IV type A 3.				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)	CTCCTCTCAGGGCCCTGCAGC	0.632												
EPHA8	2046	broad.mit.edu	37	1	22902838	22902838	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:22902838C>T	uc001bfx.1	+	3	413	c.288C>T	c.(286-288)CGC>CGT	p.R96R	EPHA8_uc001bfw.2_Silent_p.R96R	NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	96	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCGCCCGGCGCGTCTATGCTG	0.612												
HNRNPR	10236	broad.mit.edu	37	1	23645142	23645142	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:23645142T>C	uc001bgr.3	-	8	1010	c.851A>G	c.(850-852)GAC>GGC	p.D284G	HNRNPR_uc001bgp.3_Missense_Mutation_p.D287G|HNRNPR_uc009vqk.2_Missense_Mutation_p.D186G|HNRNPR_uc001bgs.3_Missense_Mutation_p.D183G|HNRNPR_uc010odw.1_Missense_Mutation_p.D246G|HNRNPR_uc010odx.1_Missense_Mutation_p.D124G|HNRNPR_uc009vql.2_Missense_Mutation_p.D145G	NM_005826	NP_005817	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	284	RRM 2.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		CTTCTTTTTGTCATCGGGTTG	0.458												
SYF2	25949	broad.mit.edu	37	1	25549889	25549889	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:25549889A>G	uc001bjt.1	-	7	655	c.600T>C	c.(598-600)CGT>CGC	p.R200R	SYF2_uc001bju.1_Silent_p.R158R	NM_015484	NP_056299	O95926	SYF2_HUMAN	SYF2 homolog, RNA splicing factor isoform 1	200						catalytic step 2 spliceosome					0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)		CATTATAAGGACGTCTCCGGC	0.333												
DHDDS	79947	broad.mit.edu	37	1	26759476	26759476	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:26759476C>T	uc001bml.2	+	2	161	c.40C>T	c.(40-42)CGG>TGG	p.R14W	DHDDS_uc001bmk.2_Missense_Mutation_p.R14W|DHDDS_uc001bmm.2_5'UTR|DHDDS_uc001bmn.2_Missense_Mutation_p.R14W|DHDDS_uc010ofd.1_Missense_Mutation_p.R14W	NM_205861	NP_995583	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase isoform b	14							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(3)	3		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		ACTTTGGGAGCGGTTCTGTGC	0.448												
RPS6KA1	6195	broad.mit.edu	37	1	26883500	26883500	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:26883500T>C	uc001bmr.1	+	13	1156	c.993T>C	c.(991-993)CGT>CGC	p.R331R	RPS6KA1_uc010ofe.1_Silent_p.R239R|RPS6KA1_uc010off.1_Silent_p.R315R|RPS6KA1_uc001bms.1_Silent_p.R340R|RPS6KA1_uc009vsl.1_Silent_p.R174R	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	331	AGC-kinase C-terminal.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AGCTATACCGTCGTGAGATCA	0.602												
GPR3	2827	broad.mit.edu	37	1	27720612	27720612	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:27720612G>T	uc001bod.2	+	2	405	c.310G>T	c.(310-312)GGC>TGC	p.G104C		NM_005281	NP_005272	P46089	GPR3_HUMAN	G protein-coupled receptor 3	104	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane				ovary(1)	1		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		CTTCTGCATCGGCTCAGCGGA	0.637												
SPOCD1	90853	broad.mit.edu	37	1	32280324	32280324	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:32280324C>A	uc001bts.1	-	2	669	c.611G>T	c.(610-612)AGG>ATG	p.R204M	SPOCD1_uc001btu.2_Missense_Mutation_p.R204M|SPOCD1_uc001btv.2_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	204					transcription, DNA-dependent					ovary(5)|breast(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTTTCTTACCCTCACAGGGAC	0.577												
LCK	3932	broad.mit.edu	37	1	32745341	32745341	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:32745341C>T	uc001bux.2	+	10	1172	c.1034C>T	c.(1033-1035)GCA>GTA	p.A345V	LCK_uc001buy.2_Missense_Mutation_p.A345V|LCK_uc001buz.2_Missense_Mutation_p.A375V|LCK_uc010ohc.1_Missense_Mutation_p.A389V|LCK_uc001bva.2_Missense_Mutation_p.A352V	NM_005356	NP_005347	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	345	Protein kinase.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			lung(3)|central_nervous_system(2)|ovary(1)	6		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	CTGGACATGGCAGCCCAAGTA	0.557			T	TRB@	T-ALL							
MARCKSL1	65108	broad.mit.edu	37	1	32800476	32800476	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:32800476A>G	uc001bvd.2	-	2	510	c.310T>C	c.(310-312)TCC>CCC	p.S104P		NM_023009	NP_075385	P49006	MRP_HUMAN	MARCKS-like 1	104						plasma membrane	calmodulin binding			ovary(1)	1		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTCTTGAAGGACAGGCCGCTC	0.572												
TRIM62	55223	broad.mit.edu	37	1	33613190	33613190	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:33613190G>A	uc001bxb.2	-	5	1654	c.1016C>T	c.(1015-1017)TCG>TTG	p.S339L		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	tripartite motif-containing 62	339	B30.2/SPRY.					intracellular	zinc ion binding				0		Myeloproliferative disorder(586;0.0393)				ACCCAGCACCGACACCTCCAC	0.617												
TRIM62	55223	broad.mit.edu	37	1	33625397	33625397	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:33625397T>C	uc001bxb.2	-	3	1291	c.653A>G	c.(652-654)TAC>TGC	p.Y218C		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	tripartite motif-containing 62	218	Potential.					intracellular	zinc ion binding				0		Myeloproliferative disorder(586;0.0393)				CTGCTGGCTGTAGCGCTGGAC	0.667												
CSMD2	114784	broad.mit.edu	37	1	34011774	34011774	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:34011774C>T	uc001bxn.1	-	56	8560	c.8531G>A	c.(8530-8532)GGC>GAC	p.G2844D	CSMD2_uc001bxm.1_Missense_Mutation_p.G2988D	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2844	Extracellular (Potential).|Sushi 20.					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAAACGGATGCCATGAGCCGG	0.572												
ZMYM4	9202	broad.mit.edu	37	1	35873680	35873680	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:35873680T>C	uc001byt.2	+	26	3948	c.3868T>C	c.(3868-3870)TTT>CTT	p.F1290L	ZMYM4_uc009vuu.2_Missense_Mutation_p.F1258L|ZMYM4_uc001byu.2_Missense_Mutation_p.F966L|ZMYM4_uc009vuv.2_Missense_Mutation_p.F1029L	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	zinc finger protein 262	1290					multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTTATGCCAGTTTATCCAAGA	0.393												
MTF1	4520	broad.mit.edu	37	1	38305654	38305654	+	Silent	SNP	C	C	T	rs143831879		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:38305654C>T	uc001cce.1	-	3	726	c.585G>A	c.(583-585)ACG>ACA	p.T195T	MTF1_uc009vvj.1_5'UTR	NM_005955	NP_005946	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	195						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			ovary(1)|pancreas(1)	2	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GCTTCTCCTTCGTGTGCACTC	0.537												
MFSD2A	84879	broad.mit.edu	37	1	40430970	40430970	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:40430970C>T	uc001cev.2	+	4	661	c.480C>T	c.(478-480)TAC>TAT	p.Y160Y	MFSD2A_uc010ojb.1_Silent_p.Y110Y|MFSD2A_uc001ceu.2_Silent_p.Y147Y|MFSD2A_uc010ojc.1_5'UTR|MFSD2A_uc009vvy.2_RNA|MFSD2A_uc001cex.2_5'Flank	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing	160					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)|pancreas(1)	2						CCTATTGGTACCTGCTTTTCT	0.587												
CAP1	10487	broad.mit.edu	37	1	40529914	40529914	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:40529914T>A	uc001cfa.3	+	5	539	c.310T>A	c.(310-312)TTG>ATG	p.L104M	CAP1_uc001cey.3_Missense_Mutation_p.L104M|CAP1_uc001cez.3_Missense_Mutation_p.L104M|CAP1_uc009vvz.2_Missense_Mutation_p.L104M|CAP1_uc010oje.1_Intron	NM_006367	NP_006358	Q01518	CAP1_HUMAN	adenylyl cyclase-associated protein	104					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			ovary(1)	1	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCTTTCCGATTTGTTGGCACC	0.428												
PPT1	5538	broad.mit.edu	37	1	40546070	40546070	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:40546070C>T	uc001cfb.2	-	6	858	c.626G>A	c.(625-627)CGG>CAG	p.R209Q	PPT1_uc010ojf.1_Missense_Mutation_p.R159Q|PPT1_uc010ojg.1_Missense_Mutation_p.R106Q|PPT1_uc009vwa.2_RNA	NM_000310	NP_000301	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1 isoform 1	209					brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity	p.R209Q(1)		ovary(1)	1	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGTGCTTACCCGCTCCTGATT	0.478												
PPT1	5538	broad.mit.edu	37	1	40555088	40555088	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:40555088T>C	uc001cfb.2	-	5	762	c.530A>G	c.(529-531)CAG>CGG	p.Q177R	PPT1_uc010ojf.1_Missense_Mutation_p.Q127R|PPT1_uc010ojg.1_Missense_Mutation_p.Q74R|PPT1_uc009vwa.2_RNA	NM_000310	NP_000301	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1 isoform 1	177			Q -> E (in CLN1).		brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity			ovary(1)	1	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATACCGTTCCTGAACAACTTT	0.463												
ZNF642	339559	broad.mit.edu	37	1	40945120	40945120	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:40945120G>A	uc001cfo.2	+	2	381	c.87G>A	c.(85-87)GCG>GCA	p.A29A	ZNF642_uc009vwb.2_Silent_p.A29A|ZNF642_uc010ojk.1_Silent_p.A29A	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	zinc finger protein 642	29	SCAN box.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)			TGGAGGGGGCGCCCCTGTGGG	0.547												
FOXJ3	22887	broad.mit.edu	37	1	42645440	42645440	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:42645440G>A	uc001che.2	-	15	2122	c.1810C>T	c.(1810-1812)CGG>TGG	p.R604W	FOXJ3_uc001chf.2_Missense_Mutation_p.R604W|FOXJ3_uc001chg.2_Missense_Mutation_p.R604W	NM_014947	NP_055762	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	604					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)	2	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGGAACGCCGCATCTGGAAG	0.507												
EBNA1BP2	10969	broad.mit.edu	37	1	43636531	43636531	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:43636531C>T	uc001cin.2	-	4	540	c.343G>A	c.(343-345)GCA>ACA	p.A115T	EBNA1BP2_uc001cio.2_Missense_Mutation_p.A170T|WDR65_uc010ojz.1_5'Flank|WDR65_uc001cip.1_5'Flank|WDR65_uc001ciq.1_5'Flank|EBNA1BP2_uc001cim.2_Missense_Mutation_p.A10T|EBNA1BP2_uc010ojx.1_Missense_Mutation_p.A170T	NM_006824	NP_006815	Q99848	EBP2_HUMAN	EBNA1 binding protein 2 isoform 2	115					ribosome biogenesis	membrane fraction|nucleolus	protein binding				0	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCAAGCACTGCGGCCTGGGCT	0.507												
ZSWIM5	57643	broad.mit.edu	37	1	45484249	45484249	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:45484249A>G	uc001cnd.2	-	14	3663	c.3435T>C	c.(3433-3435)GCT>GCC	p.A1145A		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM domain containing 5	1145							zinc ion binding				0	Acute lymphoblastic leukemia(166;0.155)					AGGTCTCCCGAGCCTTGCTTA	0.502											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MUTYH	4595	broad.mit.edu	37	1	45797709	45797709	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:45797709T>C	uc001cnm.2	-	11	1190	c.974A>G	c.(973-975)GAC>GGC	p.D325G	MUTYH_uc009vxn.2_Missense_Mutation_p.D150G|MUTYH_uc001cnf.2_Missense_Mutation_p.D300G|MUTYH_uc009vxo.2_Missense_Mutation_p.D300G|MUTYH_uc001cng.2_Missense_Mutation_p.D311G|MUTYH_uc001cnj.2_Missense_Mutation_p.D208G|MUTYH_uc001cni.2_Missense_Mutation_p.D300G|MUTYH_uc001cnh.2_Missense_Mutation_p.D301G|MUTYH_uc001cno.2_Missense_Mutation_p.D208G|MUTYH_uc001cnk.2_Missense_Mutation_p.D185G|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Missense_Mutation_p.D314G|MUTYH_uc009vxp.2_Missense_Mutation_p.D328G|MUTYH_uc001cnn.2_Missense_Mutation_p.D315G	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN	mutY homolog isoform 1	325					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding				0	Acute lymphoblastic leukemia(166;0.155)					CTCCTCCACGTCAGGACTGCC	0.572			Mis			colorectal		BER_DNA_glycosylases	MUTYH-associated_polyposis			
AKR1A1	10327	broad.mit.edu	37	1	46033700	46033700	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:46033700T>C	uc001cod.2	+	6	867	c.403T>C	c.(403-405)TAC>CAC	p.Y135H	AKR1A1_uc009vxw.2_3'UTR|AKR1A1_uc001coe.2_Missense_Mutation_p.Y135H|AKR1A1_uc001cof.2_Silent_p.A7A|AKR1A1_uc001cog.2_RNA	NM_006066	NP_006057	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1	135					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding				0	Acute lymphoblastic leukemia(166;0.155)					GACTATATGCTACGACTCCAC	0.582												
DMBX1	127343	broad.mit.edu	37	1	46977911	46977911	+	Silent	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:46977911G>T	uc001cpx.2	+	4	909	c.894G>T	c.(892-894)GCG>GCT	p.A298A	DMBX1_uc001cpw.2_Silent_p.A293A	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1 isoform b	298					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					CTGCAGCGGCGGCTGCTGCTG	0.662												
CYP4X1	260293	broad.mit.edu	37	1	47512210	47512210	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:47512210C>T	uc001cqt.2	+	9	1395	c.1145C>T	c.(1144-1146)CCG>CTG	p.P382L	CYP4X1_uc001cqr.2_Missense_Mutation_p.P381L|CYP4X1_uc001cqs.2_Missense_Mutation_p.P317L	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X,	382						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)|skin(1)	2						CCTGCAGTCCCGTCCATTTCC	0.512												
ZFYVE9	9372	broad.mit.edu	37	1	52805802	52805802	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:52805802G>A	uc001cto.2	+	17	4010	c.3838G>A	c.(3838-3840)GTA>ATA	p.V1280I	ZFYVE9_uc001ctp.2_Missense_Mutation_p.V1221I	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	1280					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						TTTTAGTGTCGTAAGTCCTAT	0.368												
ZCCHC11	23318	broad.mit.edu	37	1	52940630	52940630	+	Silent	SNP	G	G	A	rs150767107	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:52940630G>A	uc001ctx.2	-	13	2835	c.2601C>T	c.(2599-2601)ACC>ACT	p.T867T	ZCCHC11_uc001cty.2_Silent_p.T867T|ZCCHC11_uc001ctz.2_Silent_p.T867T|ZCCHC11_uc009vze.1_Silent_p.T867T|ZCCHC11_uc009vzf.1_Silent_p.T626T|ZCCHC11_uc001cub.2_Silent_p.T867T	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	867					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						CAGATGTGTCGGTGCACACAC	0.423												
ZYG11B	79699	broad.mit.edu	37	1	53237431	53237431	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:53237431C>T	uc001cuj.2	+	3	1131	c.936C>T	c.(934-936)GGC>GGT	p.G312G	ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Silent_p.G303G	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	zyg-11 homolog B	312							protein binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						TCCTCACAGGCGAAGGACATT	0.373												
TMEM59	9528	broad.mit.edu	37	1	54509118	54509118	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:54509118G>A	uc001cwp.2	-	4	721	c.471C>T	c.(469-471)TCC>TCT	p.S157S	TMEM59_uc001cwn.2_Silent_p.S20S|TMEM59_uc001cwo.2_Silent_p.S20S|TMEM59_uc001cwq.2_Silent_p.S157S|TMEM59_uc001cwr.2_Silent_p.S90S|TMEM59_uc001cws.1_Silent_p.S168S	NM_004872	NP_004863	Q9BXS4	TMM59_HUMAN	thymic dendritic cell-derived factor 1	157	Extracellular (Potential).					Golgi membrane|integral to membrane					0						AGCTCTGTGCGGAGTCCATCA	0.393												
ACOT11	26027	broad.mit.edu	37	1	55064971	55064971	+	Missense_Mutation	SNP	G	G	A	rs141264387		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:55064971G>A	uc001cxm.1	+	8	849	c.767G>A	c.(766-768)CGG>CAG	p.R256Q	ACOT11_uc001cxj.1_Missense_Mutation_p.R134Q|ACOT11_uc001cxl.1_Missense_Mutation_p.R256Q	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	thioesterase, adipose associated isoform BFIT1	256	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			central_nervous_system(1)	1						CTCCTCAGCCGGCTCTGCCGT	0.527												
ACOT11	26027	broad.mit.edu	37	1	55073633	55073633	+	Silent	SNP	G	G	A	rs142120798		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:55073633G>A	uc001cxm.1	+	15	1603	c.1521G>A	c.(1519-1521)GCG>GCA	p.A507A	ACOT11_uc001cxj.1_Silent_p.A385A|ACOT11_uc001cxl.1_Silent_p.A507A	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	thioesterase, adipose associated isoform BFIT1	507	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			central_nervous_system(1)	1						ATGTCATCGCGCTGAGGTCGG	0.637												
FGGY	55277	broad.mit.edu	37	1	59812011	59812011	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:59812011T>C	uc001czi.3	+	4	618	c.406T>C	c.(406-408)TAC>CAC	p.Y136H	FGGY_uc001czg.2_Missense_Mutation_p.Y24H|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Missense_Mutation_p.Y136H|FGGY_uc001czj.3_Missense_Mutation_p.Y136H|FGGY_uc001czk.3_Missense_Mutation_p.Y24H|FGGY_uc001czl.3_Intron	NM_018291	NP_060761	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	136					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			ovary(1)	1	all_cancers(7;7.36e-05)					TGTCCTCCAGTACGTCGGGGG	0.507												
ANGPTL3	27329	broad.mit.edu	37	1	63064448	63064448	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:63064448C>A	uc001das.1	+	2	628	c.577C>A	c.(577-579)CAT>AAT	p.H193N	DOCK7_uc001dan.2_Intron|DOCK7_uc001dao.2_Intron|DOCK7_uc001dap.2_Intron|DOCK7_uc001daq.2_Intron|DOCK7_uc009wah.1_Intron	NM_014495	NP_055310	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3 precursor	193	Potential.				acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity				0						AAACCAACAGCATAGTCAAAT	0.328												
ITGB3BP	23421	broad.mit.edu	37	1	63920100	63920100	+	Silent	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:63920100G>T	uc001dba.1	-	6	409	c.378C>A	c.(376-378)TCC>TCA	p.S126S	ITGB3BP_uc001dbb.1_Silent_p.S165S|ITGB3BP_uc001dbc.1_RNA|ITGB3BP_uc001dbd.1_RNA|ITGB3BP_uc009wak.1_Silent_p.S148S|ITGB3BP_uc001dbe.1_Silent_p.S39S	NM_014288	NP_055103	Q13352	CENPR_HUMAN	integrin beta 3 binding protein	126					apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity				0						GTGATGCACAGGAGATTCCAA	0.333												
ROR1	4919	broad.mit.edu	37	1	64624767	64624767	+	Silent	SNP	C	C	T	rs149862457	by1000genomes	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:64624767C>T	uc001dbj.2	+	8	1677	c.1278C>T	c.(1276-1278)TGC>TGT	p.C426C	uc001dbl.2_Intron	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	426	Helical; (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						TCTTCATTTGCGTCTGTCGGA	0.443												
JAK1	3716	broad.mit.edu	37	1	65310493	65310493	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:65310493C>T	uc001dbu.1	-	16	2444	c.2195G>A	c.(2194-2196)GGC>GAC	p.G732D	JAK1_uc009wam.1_Missense_Mutation_p.G720D|JAK1_uc009wal.1_5'UTR	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	732	Protein kinase 1.				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)		GATGAATGGGCCACACTCACT	0.562			Mis		ALL							
JAK1	3716	broad.mit.edu	37	1	65310571	65310571	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:65310571T>G	uc001dbu.1	-	16	2366	c.2117A>C	c.(2116-2118)GAG>GCG	p.E706A	JAK1_uc009wam.1_Missense_Mutation_p.E694A|JAK1_uc009wal.1_5'UTR	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	706	Protein kinase 1.				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)		GTCTTTATCCTCCTGCAGAGT	0.502			Mis		ALL							
LRRC7	57554	broad.mit.edu	37	1	70488956	70488956	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:70488956G>A	uc001dep.2	+	15	1609	c.1579G>A	c.(1579-1581)GCA>ACA	p.A527T	LRRC7_uc009wbg.2_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	527						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						CCCACAGCTGGCATGGGGTTG	0.552												
TNNI3K	51086	broad.mit.edu	37	1	74716398	74716398	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:74716398G>A	uc001dgf.1	+	4	329	c.278G>A	c.(277-279)CGC>CAC	p.R93H	TNNI3K_uc001dgc.1_Missense_Mutation_p.R194H|TNNI3K_uc001dgd.2_Missense_Mutation_p.R194H|TNNI3K_uc001dge.1_Missense_Mutation_p.R194H	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	93	ANK 1.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						AAAGGGCTCCGCCCATCTCGA	0.398												
NEXN	91624	broad.mit.edu	37	1	78392295	78392295	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:78392295T>C	uc001dic.3	+	7	983	c.686T>C	c.(685-687)ATG>ACG	p.M229T	NEXN_uc001dia.3_Missense_Mutation_p.M215T|NEXN_uc009wcb.1_Missense_Mutation_p.M151T|NEXN_uc001dib.3_Missense_Mutation_p.M165T|NEXN_uc001did.1_Missense_Mutation_p.M139T|NEXN_uc001dif.1_Missense_Mutation_p.M121T	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	229	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)		TCATTAGTTATGGTAAATTTT	0.328												
IFI44L	10964	broad.mit.edu	37	1	79107475	79107475	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:79107475C>T	uc010oro.1	+	9	1519	c.1340C>T	c.(1339-1341)GCG>GTG	p.A447V	IFI44L_uc010orp.1_Missense_Mutation_p.A184V|IFI44L_uc010orq.1_Missense_Mutation_p.A184V	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	447						cytoplasm					0						ATTGAGAGAGCGTTACAGCCC	0.468												
ELTD1	64123	broad.mit.edu	37	1	79356867	79356867	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:79356867A>T	uc001diq.3	-	15	2201	c.2045T>A	c.(2044-2046)GTC>GAC	p.V682D		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	682	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		ACAACAGGGGACATTTTTGAA	0.274												
WDR63	126820	broad.mit.edu	37	1	85560140	85560140	+	Nonsense_Mutation	SNP	C	C	T	rs141494762	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:85560140C>T	uc001dkt.2	+	10	1266	c.1075C>T	c.(1075-1077)CGA>TGA	p.R359*	WDR63_uc009wcl.2_Nonsense_Mutation_p.R320*	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	359										upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GGTAGCCGTGCGACTTTCTTT	0.418												
CYR61	3491	broad.mit.edu	37	1	86047684	86047684	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:86047684T>C	uc001dle.2	+	3	575	c.351T>C	c.(349-351)TGT>TGC	p.C117C	CYR61_uc001dlg.2_5'UTR|CYR61_uc009wcp.1_5'Flank	NM_001554	NP_001545	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61 precursor	117	VWFC.				cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding			central_nervous_system(1)	1				all cancers(265;0.0216)|Epithelial(280;0.0441)		AGCCCAACTGTAAACATCAGT	0.512											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GBP1	2633	broad.mit.edu	37	1	89525072	89525072	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:89525072G>A	uc001dmx.2	-	4	576	c.356C>T	c.(355-357)GCC>GTC	p.A119V		NM_002053	NP_002044	P32455	GBP1_HUMAN	guanylate binding protein 1,	119					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		CAGGAGGACGGCCAGGGCGAA	0.507												
SLC44A3	126969	broad.mit.edu	37	1	95323005	95323005	+	Missense_Mutation	SNP	C	C	T	rs148388726		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:95323005C>T	uc001dqv.3	+	10	1294	c.1187C>T	c.(1186-1188)GCG>GTG	p.A396V	SLC44A3_uc001dqx.3_Missense_Mutation_p.A396V|SLC44A3_uc010otq.1_Missense_Mutation_p.A328V|SLC44A3_uc010otr.1_Missense_Mutation_p.A360V|SLC44A3_uc001dqw.3_Missense_Mutation_p.A348V|SLC44A3_uc010ots.1_Missense_Mutation_p.A316V|SLC44A3_uc009wds.2_Missense_Mutation_p.A299V|SLC44A3_uc010ott.1_Missense_Mutation_p.A316V|SLC44A3_uc010otu.1_RNA	NM_001114106	NP_001107578	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3 isoform 1	396	Helical; (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)	1		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TTCATCCTTGCGTGCCAGCAA	0.438												
AGL	178	broad.mit.edu	37	1	100379236	100379236	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:100379236C>T	uc001dsi.1	+	30	4503	c.4103C>T	c.(4102-4104)GCT>GTT	p.A1368V	AGL_uc001dsj.1_Missense_Mutation_p.A1368V|AGL_uc001dsk.1_Missense_Mutation_p.A1368V|AGL_uc001dsl.1_Missense_Mutation_p.A1368V|AGL_uc001dsm.1_Missense_Mutation_p.A1352V|AGL_uc001dsn.1_Missense_Mutation_p.A1351V	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	1368	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)		AGTTATGGAGCTTCAAGTCCT	0.368												
S1PR1	1901	broad.mit.edu	37	1	101704655	101704655	+	Missense_Mutation	SNP	G	G	A	rs140298731		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:101704655G>A	uc001dud.2	+	2	629	c.115G>A	c.(115-117)GCG>ACG	p.A39T	S1PR1_uc009weg.2_Missense_Mutation_p.A39T	NM_001400	NP_001391	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	39	Extracellular (By similarity).				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)	3						GAATATCAGCGCGGACAAGGA	0.498											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
VAV3	10451	broad.mit.edu	37	1	108417568	108417568	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:108417568T>G	uc001dvk.1	-	2	330	c.276A>C	c.(274-276)GAA>GAC	p.E92D	VAV3_uc010ouw.1_Missense_Mutation_p.E92D|VAV3_uc001dvl.1_5'UTR|VAV3_uc010oux.1_Missense_Mutation_p.E92D	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform	92	CH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(5)|lung(2)|breast(2)	9		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CCTCGAAAAGTTCACTTTTCC	0.358												
AKNAD1	254268	broad.mit.edu	37	1	109359778	109359778	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:109359778C>T	uc001dwa.2	-	15	2540	c.2271G>A	c.(2269-2271)ATG>ATA	p.M757I	AKNAD1_uc001dwb.2_RNA	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	hypothetical protein LOC254268	757										ovary(3)	3						AGCTGTAGGTCATGAAAGCCT	0.458												
AKNAD1	254268	broad.mit.edu	37	1	109369904	109369904	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:109369904T>C	uc001dwa.2	-	11	2128	c.1859A>G	c.(1858-1860)AAG>AGG	p.K620R	AKNAD1_uc010ovb.1_Missense_Mutation_p.K327R|AKNAD1_uc001dwb.2_RNA	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	hypothetical protein LOC254268	620										ovary(3)	3						TCCGTGGCCCTTTTTCTCCAC	0.413												
AHCYL1	10768	broad.mit.edu	37	1	110561031	110561031	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:110561031G>A	uc001dyx.2	+	12	1527	c.1160G>A	c.(1159-1161)CGC>CAC	p.R387H	AHCYL1_uc010ovw.1_Missense_Mutation_p.R340H|AHCYL1_uc001dyy.2_Missense_Mutation_p.R340H|AHCYL1_uc010ovx.1_Missense_Mutation_p.R340H	NM_006621	NP_006612	O43865	SAHH2_HUMAN	S-adenosylhomocysteine hydrolase-like 1	387	NAD binding (By similarity).				one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			ovary(1)	1		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		CACTTGGATCGCATGAAAAAC	0.443												
KCNC4	3749	broad.mit.edu	37	1	110754251	110754251	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:110754251G>A	uc001dzh.2	+	1	187	c.130G>A	c.(130-132)GGC>AGC	p.G44S	KCNC4_uc001dzf.2_Missense_Mutation_p.G44S|KCNC4_uc009wfr.2_Missense_Mutation_p.G44S|KCNC4_uc001dzg.2_Missense_Mutation_p.G44S|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	44	Cytoplasmic (Potential).				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAACGTGGGCGGCACGCGACA	0.677												
DENND2D	79961	broad.mit.edu	37	1	111734909	111734909	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:111734909G>A	uc001eak.1	-	8	1025	c.825C>T	c.(823-825)GCC>GCT	p.A275A	DENND2D_uc001eal.1_Silent_p.A272A	NM_024901	NP_079177	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	275	DENN.									ovary(1)	1		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		AGAGCAGTGCGGCAGCAGCAT	0.627												
ATP5F1	515	broad.mit.edu	37	1	112002112	112002112	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:112002112C>T	uc001ebc.2	+	6	968	c.547C>T	c.(547-549)CGG>TGG	p.R183W	ATP5F1_uc009wgf.1_Missense_Mutation_p.R330W|ATP5F1_uc001ebd.3_RNA	NM_001688	NP_001679	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	183					ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding				0		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGTTACTTACCGGGAACGACT	0.358												
SLC16A1	6566	broad.mit.edu	37	1	113460046	113460046	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:113460046G>A	uc001ecx.2	-	4	1814	c.982C>T	c.(982-984)CGA>TGA	p.R328*	SLC16A1_uc001ecy.2_Nonsense_Mutation_p.R328*|SLC16A1_uc001ecz.2_Nonsense_Mutation_p.R328*	NM_003051	NP_003042	P53985	MOT1_HUMAN	solute carrier family 16, member 1	328	Cytoplasmic (Potential).				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			central_nervous_system(1)	1	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)	TACTGAATTCGAGGTCTTATT	0.453												
MAGI3	260425	broad.mit.edu	37	1	114196613	114196613	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:114196613A>G	uc001edk.2	+	15	2783	c.2602A>G	c.(2602-2604)ACC>GCC	p.T868A	MAGI3_uc001edh.3_Missense_Mutation_p.T893A|MAGI3_uc001edi.3_Missense_Mutation_p.T868A|MAGI3_uc010owm.1_Missense_Mutation_p.T893A|MAGI3_uc001edj.2_Missense_Mutation_p.T589A	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	membrane-associated guanylate kinase-related  3	893	Interaction with LPAR2 and GRIN2B.|PDZ 5.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			lung(3)|ovary(2)|central_nervous_system(1)	6	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTCATCCTCACCTCCAAAAA	0.498												
PTPN22	26191	broad.mit.edu	37	1	114380697	114380697	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:114380697A>G	uc001eds.2	-	13	1455	c.1325T>C	c.(1324-1326)GTG>GCG	p.V442A	PTPN22_uc009wgq.2_Missense_Mutation_p.V387A|PTPN22_uc010owo.1_Missense_Mutation_p.V198A|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.V442A|PTPN22_uc009wgs.2_Missense_Mutation_p.V315A|PTPN22_uc001edu.2_Missense_Mutation_p.V442A	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type	442					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			kidney(2)|lung(1)|skin(1)	4	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTTATTGGCACCTTTGAATT	0.378												
AP4B1	10717	broad.mit.edu	37	1	114438057	114438057	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:114438057G>T	uc001eeb.2	-	10	1993	c.1850C>A	c.(1849-1851)GCC>GAC	p.A617D	uc001edv.1_Intron|AP4B1_uc001eec.2_Missense_Mutation_p.A449D|AP4B1_uc001eed.2_Missense_Mutation_p.A617D|AP4B1_uc010owp.1_Missense_Mutation_p.A518D|AP4B1_uc001eea.1_3'UTR|AP4B1_uc001eee.1_3'UTR	NM_006594	NP_006585	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1	617					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			ovary(3)|central_nervous_system(1)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGCATGAGGGCTCCAGAATC	0.453												
PTGFRN	5738	broad.mit.edu	37	1	117487474	117487474	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:117487474G>A	uc001egv.1	+	3	729	c.592G>A	c.(592-594)GCC>ACC	p.A198T		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor negative regulator	198	Ig-like C2-type 2.|Extracellular (Potential).					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			liver(1)	1	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GAGCGTCCTCGCCCTGACCCA	0.746												
CD101	9398	broad.mit.edu	37	1	117552499	117552499	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:117552499T>C	uc010oxb.1	+	2	129	c.71T>C	c.(70-72)GTA>GCA	p.V24A	CD101_uc009whd.2_Missense_Mutation_p.V24A|CD101_uc010oxc.1_Missense_Mutation_p.V24A|CD101_uc010oxd.1_Missense_Mutation_p.V24A	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	24	Extracellular (Potential).|Ig-like C2-type 1.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						CAGAGAGAAGTAACAGTTCAG	0.458												
ZNF697	90874	broad.mit.edu	37	1	120165879	120165879	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:120165879C>T	uc001ehy.1	-	3	1201	c.1087G>A	c.(1087-1089)GTG>ATG	p.V363M		NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	363	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GAACGGCGCACGAAGCCCTTG	0.502												
HMGCS2	3158	broad.mit.edu	37	1	120295184	120295184	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:120295184A>C	uc001eid.2	-	8	1459	c.1408T>G	c.(1408-1410)TTC>GTC	p.F470V	HMGCS2_uc010oxj.1_Missense_Mutation_p.F428V|HMGCS2_uc001eie.2_Missense_Mutation_p.F378V	NM_005518	NP_005509	P54868	HMCS2_HUMAN	hydroxymethylglutaryl-CoA synthase 2 isoform 1	470					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			ovary(2)	2	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TTATGGTAGAATTGCTCTCTT	0.458												
BCL9	607	broad.mit.edu	37	1	147091769	147091769	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:147091769G>A	uc001epq.2	+	8	2548	c.1808G>A	c.(1807-1809)CGA>CAA	p.R603Q	BCL9_uc010ozr.1_Missense_Mutation_p.R529Q	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	603	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					CCAGATGGTCGAAATTTTCCT	0.532			T	IGH@|IGL@	B-ALL							
PI4KB	5298	broad.mit.edu	37	1	151266555	151266555	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:151266555C>T	uc001ext.2	-	11	2623	c.2208G>A	c.(2206-2208)GGG>GGA	p.G736G	PI4KB_uc001exr.2_Silent_p.G748G|PI4KB_uc001exs.2_Silent_p.G721G|PI4KB_uc001exu.2_Silent_p.G721G|PI4KB_uc010pcw.1_Silent_p.G404G	NM_002651	NP_002642	Q9UBF8	PI4KB_HUMAN	catalytic phosphatidylinositol 4-kinase beta	736	PI3K/PI4K.				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			ovary(2)|skin(2)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CGGCAATCAGCCCTTGCAGCA	0.557												
RFX5	5993	broad.mit.edu	37	1	151316207	151316207	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:151316207A>G	uc001exv.1	-	9	921	c.707T>C	c.(706-708)ATC>ACC	p.I236T	RFX5_uc001exw.1_Missense_Mutation_p.I236T|RFX5_uc009wmr.1_Missense_Mutation_p.I236T|RFX5_uc010pcx.1_Missense_Mutation_p.I196T	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	regulatory factor X, 5	236						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCGGGCAGAGATGAGATGCTG	0.577												
TUFT1	7286	broad.mit.edu	37	1	151546762	151546762	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:151546762A>G	uc001eyl.2	+	8	673	c.611A>G	c.(610-612)TAC>TGC	p.Y204C	TUFT1_uc001eym.2_Missense_Mutation_p.Y179C|TUFT1_uc010pdf.1_Missense_Mutation_p.Y223C|TUFT1_uc010pdg.1_Missense_Mutation_p.Y152C	NM_020127	NP_064512	Q9NNX1	TUFT1_HUMAN	tuftelin 1 isoform 1	204	Potential.				bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel				0	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)			CTCAGCCGGTACCAGAGGGAA	0.483											OREG0003906	type=REGULATORY REGION|Gene=TUFT1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
LINGO4	339398	broad.mit.edu	37	1	151774279	151774279	+	Missense_Mutation	SNP	C	C	T	rs143989839		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:151774279C>T	uc001ezf.1	-	2	1092	c.902G>A	c.(901-903)CGG>CAG	p.R301Q		NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	301	Extracellular (Potential).|LRR 10.					integral to membrane				large_intestine(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTCCTGGAGCCGCACCAGGGG	0.612												
FLG	2312	broad.mit.edu	37	1	152282031	152282031	+	Silent	SNP	G	G	A	rs145158439	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:152282031G>A	uc001ezu.1	-	3	5367	c.5331C>T	c.(5329-5331)TCC>TCT	p.S1777S		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1777	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCATGGGCGGACTCAGACT	0.607									Ichthyosis			
CRCT1	54544	broad.mit.edu	37	1	152487940	152487940	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:152487940G>A	uc001ezz.2	+	2	154	c.81G>A	c.(79-81)CCG>CCA	p.P27P		NM_019060	NP_061933	Q9UGL9	CRCT1_HUMAN	cysteine-rich C-terminal 1	27											0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			gtcccgccccggcgcccaccc	0.478												
LCE2D	353141	broad.mit.edu	37	1	152636751	152636751	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:152636751G>A	uc001fag.2	+	2	225	c.170G>A	c.(169-171)GGT>GAT	p.G57D		NM_178430	NP_848517	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	57	Cys-rich.				keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTGCTGTGGTCCCAGCTCT	0.667												
SMCP	4184	broad.mit.edu	37	1	152857092	152857092	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:152857092G>A	uc001fat.2	+	2	339	c.194G>A	c.(193-195)TGC>TAC	p.C65Y		NM_030663	NP_109588	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich	65	7.|7 X 7 (OR 8) AA approximate repeats.				penetration of zona pellucida|sperm motility	mitochondrial membrane					0	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAACCCCCATGCTGCATTCAG	0.542												
PGLYRP3	114771	broad.mit.edu	37	1	153279700	153279700	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:153279700C>T	uc001fbn.1	-	2	152	c.99G>A	c.(97-99)CCG>CCA	p.P33P		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3 precursor	33					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCAGGCGAGCGGTCTTGCCC	0.622												
GBA	2629	broad.mit.edu	37	1	155207185	155207185	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:155207185G>A	uc001fjh.2	-	7	1096	c.946C>T	c.(946-948)CGC>TGC	p.R316C	RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Missense_Mutation_p.R203C|GBA_uc010pfx.1_Missense_Mutation_p.R267C|GBA_uc001fji.2_Missense_Mutation_p.R316C|GBA_uc001fjj.2_Missense_Mutation_p.R316C|GBA_uc001fjk.2_Missense_Mutation_p.R316C|GBA_uc001fjl.2_Missense_Mutation_p.R316C|GBA_uc010pfy.1_Missense_Mutation_p.R229C|GBA_uc009wqk.1_Missense_Mutation_p.R229C	NM_000157	NP_000148	P04062	GLCM_HUMAN	glucocerebrosidase precursor	316					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			ovary(1)|skin(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	ATGAGTAGGCGGACATTGTGG	0.572									Gaucher_disease_type_I			
ASH1L	55870	broad.mit.edu	37	1	155327459	155327459	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:155327459T>C	uc009wqq.2	-	14	7372	c.6892A>G	c.(6892-6894)AAA>GAA	p.K2298E	RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.K2293E	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2298					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)			TGGCTGTTTTTGCTGCTGGTG	0.433												
DAP3	7818	broad.mit.edu	37	1	155691377	155691377	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:155691377C>T	uc001flq.2	+	4	407	c.238C>T	c.(238-240)CCC>TCC	p.P80S	DAP3_uc001flr.2_Missense_Mutation_p.P80S|DAP3_uc001fls.2_Missense_Mutation_p.P80S|DAP3_uc010pgl.1_Missense_Mutation_p.P39S|DAP3_uc001flt.2_Intron|DAP3_uc001flu.2_Missense_Mutation_p.P80S|DAP3_uc010pgm.1_Intron	NM_033657	NP_387506	P51398	RT29_HUMAN	death-associated protein 3	80					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			ovary(1)	1	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GACTGTATTTCCCCATGGCCT	0.527												
RXFP4	339403	broad.mit.edu	37	1	155912164	155912164	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:155912164A>G	uc010pgs.1	+	1	685	c.664A>G	c.(664-666)ACC>GCC	p.T222A		NM_181885	NP_871001	Q8TDU9	RL3R2_HUMAN	relaxin 3 receptor 2	222	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	angiotensin type II receptor activity				0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CGTCATCACCACCAGCTACCT	0.672												
ARHGEF2	9181	broad.mit.edu	37	1	155920622	155920622	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:155920622G>A	uc001fmt.2	-	20	2819	c.2701C>T	c.(2701-2703)CAG>TAG	p.Q901*	ARHGEF2_uc001fmq.2_Nonsense_Mutation_p.Q139*|ARHGEF2_uc001fmr.2_Nonsense_Mutation_p.Q873*|ARHGEF2_uc001fms.2_Nonsense_Mutation_p.Q900*|ARHGEF2_uc001fmu.2_Nonsense_Mutation_p.Q945*	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor 2	901					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CACCTTACCTGTGGGGGGTTG	0.622												
SLC25A44	9673	broad.mit.edu	37	1	156170176	156170176	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:156170176C>T	uc001fnp.2	+	2	860	c.538C>T	c.(538-540)CGC>TGC	p.R180C	SLC25A44_uc010phc.1_Missense_Mutation_p.R71C|SLC25A44_uc009wrr.2_Missense_Mutation_p.R180C|SLC25A44_uc010phd.1_Intron|SLC25A44_uc010phe.1_Intron	NM_014655	NP_055470	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	180	Solcar 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			ovary(1)	1	Hepatocellular(266;0.158)					TGATGGACTTCGCGGCTTCTA	0.562												
BGLAP	632	broad.mit.edu	37	1	156212601	156212601	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:156212601G>A	uc001fnt.2	+	3	224	c.152G>A	c.(151-153)CGC>CAC	p.R51H	BGLAP_uc001fns.1_Silent_p.A152A	NM_199173	NP_954642	P02818	OSTCN_HUMAN	osteocalcin preproprotein	51					bone mineralization|cell adhesion|odontogenesis|regulation of bone mineralization|regulation of bone resorption|regulation of osteoclast differentiation		calcium ion binding|hydroxyapatite binding|structural constituent of bone				0	Hepatocellular(266;0.158)				Phytonadione(DB01022)	AGACCCAGGCGCTACCTGTAT	0.627												
NTRK1	4914	broad.mit.edu	37	1	156837916	156837916	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:156837916T>C	uc001fqh.1	+	5	505	c.449T>C	c.(448-450)CTG>CCG	p.L150P	NTRK1_uc001fqf.1_Missense_Mutation_p.L120P|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Missense_Mutation_p.L150P|NTRK1_uc009wsk.1_Missense_Mutation_p.L150P	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	150	LRRCT.|Extracellular (Potential).				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GGGAACCCTCTGCACTGTTCT	0.632			T	TPM3|TPR|TFG	papillary thyroid					TSP Lung(10;0.080)		
KIRREL	55243	broad.mit.edu	37	1	158064555	158064555	+	Missense_Mutation	SNP	G	G	A	rs138458053		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:158064555G>A	uc001frn.3	+	15	2323	c.1919G>A	c.(1918-1920)CGT>CAT	p.R640H	KIRREL_uc010pib.1_Missense_Mutation_p.R540H|KIRREL_uc009wsq.2_Missense_Mutation_p.R476H|KIRREL_uc001fro.3_Missense_Mutation_p.R454H|uc001frp.2_5'Flank	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	640	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)					CCCTCATCCCGTCTCTCCCAC	0.677												
OR10X1	128367	broad.mit.edu	37	1	158549198	158549198	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:158549198A>G	uc010pin.1	-	1	492	c.492T>C	c.(490-492)GCT>GCC	p.A164A		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X,	164	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					CTGCAGTGCAAGCAGAGGCCA	0.463												
VANGL2	57216	broad.mit.edu	37	1	160385688	160385688	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:160385688C>T	uc001fwb.1	+	3	360	c.61C>T	c.(61-63)CGC>TGC	p.R21C	VANGL2_uc001fwc.1_Missense_Mutation_p.R21C	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	vang-like 2	21	Cytoplasmic (Potential).				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				ovary(1)	1	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCGCAGCTCCCGCAAGCACAG	0.657												
PVRL4	81607	broad.mit.edu	37	1	161049561	161049561	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:161049561G>A	uc001fxo.2	-	2	557	c.258C>T	c.(256-258)TAC>TAT	p.Y86Y		NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4 precursor	86	Ig-like V-type 1.|Extracellular (Potential).				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				ovary(2)	2	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CATGAAGCCCGTATTTGGAGT	0.687												
FCGR2A	2212	broad.mit.edu	37	1	161476213	161476213	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:161476213C>T	uc001gan.2	+	3	249	c.196C>T	c.(196-198)CGC>TGC	p.R66C	FCGR2A_uc001gam.2_Missense_Mutation_p.R65C|FCGR2A_uc001gao.2_RNA	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor	66	Extracellular (Potential).|Ig-like C2-type 1.					integral to membrane|plasma membrane	IgG binding|receptor activity			ovary(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCAGGGGGCTCGCAGCCCTGA	0.587												
ATF6	22926	broad.mit.edu	37	1	161736162	161736162	+	Silent	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:161736162G>T	uc001gbr.2	+	1	79	c.12G>T	c.(10-12)CCG>CCT	p.P4P	ATF6_uc001gbq.1_Silent_p.P4P	NM_007348	NP_031374	P18850	ATF6A_HUMAN	activating transcription factor 6	4	Cytoplasmic (Potential).|Transcription activation.				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|skin(1)	3	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			TGGGGGAGCCGGCTGGGGTTG	0.567												
RCSD1	92241	broad.mit.edu	37	1	167659290	167659290	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:167659290C>T	uc001gem.2	+	4	390	c.203C>T	c.(202-204)TCA>TTA	p.S68L	RCSD1_uc010pli.1_Missense_Mutation_p.S38L	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	68										ovary(2)|central_nervous_system(2)|skin(1)	5	all_hematologic(923;0.215)					CCATAGAAATCACCACCCAAT	0.458												
TBX19	9095	broad.mit.edu	37	1	168266967	168266967	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:168266967G>A	uc001gfl.2	+	4	660	c.609G>A	c.(607-609)ACG>ACA	p.T203T	TBX19_uc001gfj.3_Silent_p.T134T|TBX19_uc001gfm.2_5'UTR	NM_005149	NP_005140	O60806	TBX19_HUMAN	T-box 19	203	T-box.				anatomical structure morphogenesis	nucleus	DNA binding				0	all_hematologic(923;0.215)					GCAAGATAACGGCTCTCAAAA	0.348												
C1orf114	57821	broad.mit.edu	37	1	169394074	169394074	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:169394074T>C	uc001gga.1	-	2	260	c.92A>G	c.(91-93)GAA>GGA	p.E31G	C1orf114_uc001gfz.1_Missense_Mutation_p.E31G|C1orf114_uc009wvq.1_Missense_Mutation_p.E31G|C1orf114_uc001ggb.2_Missense_Mutation_p.E31G|C1orf114_uc001ggc.1_Missense_Mutation_p.E31G	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	hypothetical protein LOC57821	31											0	all_hematologic(923;0.208)					ATCACTTTTTTCATTTTCATT	0.229												
C1orf129	80133	broad.mit.edu	37	1	170967338	170967338	+	Missense_Mutation	SNP	A	A	C	rs74760081		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:170967338A>C	uc001ghg.2	+	15	1649	c.1519A>C	c.(1519-1521)AGT>CGT	p.S507R	C1orf129_uc009wvy.2_Missense_Mutation_p.S314R|C1orf129_uc010plz.1_Missense_Mutation_p.S507R	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN	hypothetical protein LOC80133 isoform 2	507							binding			pancreas(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGAGACCCTGAGTTATCTCTA	0.393												
DNM3	26052	broad.mit.edu	37	1	171956852	171956852	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:171956852C>T	uc001gie.2	+	3	468	c.292C>T	c.(292-294)CGC>TGC	p.R98C	DNM3_uc001gid.3_Missense_Mutation_p.R98C|DNM3_uc009wwb.2_Missense_Mutation_p.R98C|DNM3_uc001gif.2_Missense_Mutation_p.R98C	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	dynamin 3 isoform a	98					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			breast(1)	1						TGATGAAGTTCGCCTTGAGAT	0.358												
TNR	7143	broad.mit.edu	37	1	175355252	175355252	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:175355252G>A	uc001gkp.1	-	6	1774	c.1693C>T	c.(1693-1695)CGG>TGG	p.R565W	TNR_uc009wwu.1_Missense_Mutation_p.R565W	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	565	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					GAGCCAGGCCGCAGGGCCTGC	0.607												
FAM5B	57795	broad.mit.edu	37	1	177225078	177225078	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:177225078A>G	uc001glf.2	+	3	605	c.293A>G	c.(292-294)AAC>AGC	p.N98S	FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.2_5'Flank	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	98						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						TGGAAGGTGAACAACTTGGCT	0.493											OREG0014006	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
QSOX1	5768	broad.mit.edu	37	1	180155277	180155277	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:180155277G>A	uc001gnz.2	+	8	1052	c.977G>A	c.(976-978)CGC>CAC	p.R326H	QSOX1_uc001gny.2_Missense_Mutation_p.R326H|QSOX1_uc001goa.2_Missense_Mutation_p.R326H	NM_002826	NP_002817	O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1 isoform a	326					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			ovary(1)|central_nervous_system(1)	2						GAAGGGCAGCGCCTGGTGGCC	0.577												
C1orf14	81626	broad.mit.edu	37	1	182921962	182921962	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:182921962C>T	uc001gpu.2	-	1	592	c.307G>A	c.(307-309)GCG>ACG	p.A103T	C1orf14_uc001gpv.2_5'UTR|C1orf14_uc010pnz.1_5'UTR|C1orf14_uc001gpw.2_5'UTR	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	chromosome 1 open reading frame 14	175											0				Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)		AGGGGCTGCGCCTCCTCTTCA	0.597												
LAMC2	3918	broad.mit.edu	37	1	183197579	183197579	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:183197579T>C	uc001gqa.2	+	11	1853	c.1539T>C	c.(1537-1539)CCT>CCC	p.P513P	LAMC2_uc001gpz.3_Silent_p.P513P|LAMC2_uc010poa.1_Silent_p.P213P	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	513	Laminin EGF-like 6.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3						CAGTGAGGCCTTGTCAGCCCT	0.557											OREG0014041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KCNT2	343450	broad.mit.edu	37	1	196288662	196288662	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:196288662G>A	uc001gtd.1	-	20	2360	c.2300C>T	c.(2299-2301)GCA>GTA	p.A767V	KCNT2_uc009wyt.1_Intron|KCNT2_uc001gte.1_Intron|KCNT2_uc001gtf.1_Intron|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_Intron|KCNT2_uc001gth.1_Intron	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	767	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						CCAACAGATTGCATCCAGAAA	0.413												
CAMSAP1L1	23271	broad.mit.edu	37	1	200818250	200818250	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:200818250A>G	uc001gvl.2	+	12	2656	c.2386A>G	c.(2386-2388)ACA>GCA	p.T796A	CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.T785A|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.T769A	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	796						cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4						AATGGGAAGGACAGCATTCCT	0.438												
KIF21B	23046	broad.mit.edu	37	1	200968582	200968582	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:200968582G>A	uc001gvs.1	-	13	2097	c.1780C>T	c.(1780-1782)CGA>TGA	p.R594*	KIF21B_uc001gvr.1_Nonsense_Mutation_p.R594*|KIF21B_uc009wzl.1_Nonsense_Mutation_p.R594*|KIF21B_uc010ppn.1_Nonsense_Mutation_p.R594*	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	594	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						CTCTCGTCTCGCTCTTCCTCC	0.627												
PPP1R15B	84919	broad.mit.edu	37	1	204378728	204378728	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:204378728T>C	uc001hav.3	-	1	2217	c.1812A>G	c.(1810-1812)TTA>TTG	p.L604L		NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	604					regulation of translation					ovary(1)|pancreas(1)	2	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TACAAGAAAGTAAGGTGTGAC	0.468												
C4BPA	722	broad.mit.edu	37	1	207300065	207300065	+	Silent	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:207300065C>A	uc001hfo.2	+	7	908	c.714C>A	c.(712-714)ACC>ACA	p.T238T		NM_000715	NP_000706	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	238	Sushi 4.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						TAGAAATCACCTGTCGCAAGC	0.373												
CR1	1378	broad.mit.edu	37	1	207758095	207758095	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:207758095C>T	uc001hfy.2	+	25	4194	c.4054C>T	c.(4054-4056)CCC>TCC	p.P1352S	CR1_uc009xcl.1_Missense_Mutation_p.P902S|CR1_uc001hfx.2_Missense_Mutation_p.P1802S	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1352	Extracellular (Potential).|Sushi 21.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						CACATGTGACCCCCACCCAGA	0.512												
LAMB3	3914	broad.mit.edu	37	1	209804065	209804065	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:209804065C>T	uc001hhg.2	-	8	1228	c.838G>A	c.(838-840)GTC>ATC	p.V280I	LAMB3_uc009xco.2_Missense_Mutation_p.V280I|LAMB3_uc001hhh.2_Missense_Mutation_p.V280I|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Missense_Mutation_p.V216I	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	280	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TGCTGGCAGACACAGACATCG	0.582												
USH2A	7399	broad.mit.edu	37	1	215956157	215956157	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:215956157C>T	uc001hku.1	-	53	10895	c.10508G>A	c.(10507-10509)AGT>AAT	p.S3503N		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3503	Extracellular (Potential).|Fibronectin type-III 20.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CGTAGGGGGACTCACTCCTTG	0.413										HNSCC(13;0.011)		
EPRS	2058	broad.mit.edu	37	1	220152906	220152906	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:220152906C>T	uc001hly.1	-	27	4033	c.3763G>A	c.(3763-3765)GTT>ATT	p.V1255I		NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	1255	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TCTTCAAAAACGATTTCAAAC	0.368												
DUSP10	11221	broad.mit.edu	37	1	221875832	221875832	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:221875832C>T	uc001hmy.1	-	4	1553	c.1371G>A	c.(1369-1371)GAG>GAA	p.E457E	DUSP10_uc001hmx.1_Silent_p.E115E|DUSP10_uc001hmz.1_Silent_p.E115E	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10 isoform a	457					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0103)		CTTCCTCGAACTCTAGCAACT	0.468												
DUSP10	11221	broad.mit.edu	37	1	221912540	221912540	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:221912540A>G	uc001hmy.1	-	2	729	c.547T>C	c.(547-549)TAC>CAC	p.Y183H	DUSP10_uc001hmx.1_5'Flank|DUSP10_uc001hmz.1_Intron	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10 isoform a	183	Rhodanese.				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0103)		CTCTTGTTGTACTCCATGAAG	0.512												
HHIPL2	79802	broad.mit.edu	37	1	222696078	222696078	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:222696078T>C	uc001hnh.1	-	9	2098	c.2040A>G	c.(2038-2040)CGA>CGG	p.R680R		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	680					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)		TACCAGGCCCTCGCAATGTAT	0.567												
MIA3	375056	broad.mit.edu	37	1	222801804	222801804	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:222801804T>A	uc001hnl.2	+	4	1251	c.1242T>A	c.(1240-1242)GAT>GAA	p.D414E	MIA3_uc009xea.1_Missense_Mutation_p.D250E	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	414	Extracellular (Potential).				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)		AAAAAGAAGATGATGATGATG	0.418												
DISP1	84976	broad.mit.edu	37	1	223177005	223177005	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:223177005C>T	uc001hnu.1	+	8	2413	c.2266C>T	c.(2266-2268)CGG>TGG	p.R756W		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	756					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)		CCAGGTGTTCCGGTCGTCCCA	0.463												
MIXL1	83881	broad.mit.edu	37	1	226413384	226413384	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:226413384T>C	uc010pvm.1	+	2	570	c.570T>C	c.(568-570)GTT>GTC	p.V190V		NM_031944	NP_114150	Q9H2W2	MIXL1_HUMAN	Mix-like homeobox protein 1	190					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		CAAACGGGGTTGGAGGGGGCA	0.517												
ITPKB	3707	broad.mit.edu	37	1	226924682	226924682	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:226924682C>T	uc010pvo.1	-	2	818	c.478G>A	c.(478-480)GCC>ACC	p.A160T	ITPKB_uc001hqh.2_Missense_Mutation_p.A160T	NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	160							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)				GCTTGAATGGCGGAGCTCTGT	0.652												
CDC42BPA	8476	broad.mit.edu	37	1	227300012	227300012	+	Splice_Site	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:227300012C>T	uc001hqr.2	-	14	2944	c.2001_splice	c.e14+1	p.K667_splice	CDC42BPA_uc001hqs.2_Splice_Site_p.K586_splice|CDC42BPA_uc009xes.2_Splice_Site_p.K667_splice|CDC42BPA_uc010pvs.1_Splice_Site_p.K667_splice	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	CDC42-binding protein kinase alpha isoform B						actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)				TCAAAAGATACCTTCAGTCCC	0.393												
SNAP47	116841	broad.mit.edu	37	1	227954678	227954678	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:227954678G>A	uc001hrf.2	+	4	1556	c.1142G>A	c.(1141-1143)CGT>CAT	p.R381H	SNAP47_uc001hqz.2_Missense_Mutation_p.R336H|SNAP47_uc001hra.2_Missense_Mutation_p.R139H|SNAP47_uc001hrd.2_Missense_Mutation_p.R381H|SNAP47_uc001hre.2_Missense_Mutation_p.R139H	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	381						endomembrane system|membrane|perinuclear region of cytoplasm				ovary(1)	1						CTGATGGGCCGTACCCTGCAC	0.607												
OBSCN	84033	broad.mit.edu	37	1	228437865	228437865	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:228437865G>T	uc009xez.1	+	14	4277	c.4233G>T	c.(4231-4233)CAG>CAT	p.Q1411H	OBSCN_uc001hsn.2_Missense_Mutation_p.Q1411H	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1411	Ig-like 14.				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)				TGGTGCAGCAGGCATGCCAGG	0.642												
OBSCN	84033	broad.mit.edu	37	1	228495858	228495858	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:228495858G>A	uc009xez.1	+	47	12557	c.12513G>A	c.(12511-12513)ACG>ACA	p.T4171T	OBSCN_uc001hsn.2_Silent_p.T4171T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4171	Ig-like 43.				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)				CGGAGGTGACGGCCGATGAGG	0.597												
SIPA1L2	57568	broad.mit.edu	37	1	232581355	232581355	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:232581355C>T	uc001hvg.2	-	9	3431	c.3273G>A	c.(3271-3273)CCG>CCA	p.P1091P	SIPA1L2_uc001hvf.2_Silent_p.P165P	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1091					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GCTGTTGGCACGGCAGCCGGT	0.672												
TARBP1	6894	broad.mit.edu	37	1	234553890	234553890	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:234553890A>G	uc001hwd.2	-	22	3645	c.3645T>C	c.(3643-3645)ATT>ATC	p.I1215I		NM_005646	NP_005637	Q13395	TARB1_HUMAN	TAR RNA binding protein 1	1215					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)|skin(1)	3	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GAATCAATATAATAATCCATT	0.264												
EDARADD	128178	broad.mit.edu	37	1	236557807	236557807	+	Splice_Site	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:236557807T>C	uc001hxu.1	+	1	126	c.61_splice	c.e1+2	p.D21_splice	EDARADD_uc001hxv.1_5'Flank	NM_145861	NP_665860	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain isoform A						cell differentiation|signal transduction	cytoplasm					0	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACCAAGAGGGTATGTAGGCAT	0.428												
EDARADD	128178	broad.mit.edu	37	1	236590728	236590728	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:236590728G>A	uc001hxu.1	+	4	262	c.197G>A	c.(196-198)CGA>CAA	p.R66Q	EDARADD_uc001hxv.1_Missense_Mutation_p.R56Q	NM_145861	NP_665860	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain isoform A	66					cell differentiation|signal transduction	cytoplasm					0	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AACTGCCCACGAAATTCAGAT	0.249												
MTR	4548	broad.mit.edu	37	1	237024537	237024537	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:237024537T>C	uc001hyi.3	+	20	2579	c.2156T>C	c.(2155-2157)GTT>GCT	p.V719A	MTR_uc010pxw.1_Missense_Mutation_p.V312A|MTR_uc010pxx.1_Intron|MTR_uc010pxy.1_Missense_Mutation_p.V573A	NM_000254	NP_000245	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine	719	B12-binding N-terminal.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	ATGAAAATTGTTGGTGATCTT	0.348												
RYR2	6262	broad.mit.edu	37	1	237778123	237778123	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:237778123C>T	uc001hyl.1	+	37	5815	c.5695C>T	c.(5695-5697)CCA>TCA	p.P1899S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1899	Cytoplasmic (By similarity).|4 X approximate repeats.				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)			AATGAAACTGCCAGAGCCAGT	0.468												
CHRM3	1131	broad.mit.edu	37	1	240072331	240072331	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:240072331A>C	uc001hyp.2	+	5	2359	c.1580A>C	c.(1579-1581)AAT>ACT	p.N527T		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	527	Extracellular (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(1)	5	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	ACCTTTTGGAATCTGGGCTAC	0.483												
FMN2	56776	broad.mit.edu	37	1	240370282	240370282	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:240370282G>A	uc010pyd.1	+	5	2395	c.2170G>A	c.(2170-2172)GAA>AAA	p.E724K	FMN2_uc010pye.1_Missense_Mutation_p.E728K	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	724					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)			TGTCTGTCTCGAAGCTCTCAG	0.532												
EXO1	9156	broad.mit.edu	37	1	242035457	242035457	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:242035457T>C	uc001hzh.2	+	12	1931	c.1391T>C	c.(1390-1392)GTA>GCA	p.V464A	EXO1_uc001hzi.2_Missense_Mutation_p.V464A|EXO1_uc001hzj.2_Missense_Mutation_p.V464A|EXO1_uc009xgq.2_Missense_Mutation_p.V463A	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	464	Interaction with MLH1.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CCTGACCTGGTAAATGGACCT	0.363								Direct_reversal_of_damage|Editing_and_processing_nucleases				
ZNF238	10472	broad.mit.edu	37	1	244217371	244217371	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:244217371A>G	uc001iae.2	+	1	790	c.268A>G	c.(268-270)AAA>GAA	p.K90E	ZNF238_uc001iad.3_Missense_Mutation_p.K99E|ZNF238_uc001iaf.1_Missense_Mutation_p.K90E	NM_006352	NP_006343	Q99592	ZN238_HUMAN	zinc finger protein 238 isoform 2	90	BTB.				negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|pancreas(2)	5	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)			ACTCCAGTTCAAAGACTTGCC	0.458												
ZNF238	10472	broad.mit.edu	37	1	244218475	244218475	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:244218475G>A	uc001iae.2	+	1	1894	c.1372G>A	c.(1372-1374)GTG>ATG	p.V458M	ZNF238_uc001iad.3_Missense_Mutation_p.V467M|ZNF238_uc001iaf.1_3'UTR	NM_006352	NP_006343	Q99592	ZN238_HUMAN	zinc finger protein 238 isoform 2	458	C2H2-type 3.				negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|pancreas(2)	5	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)			CCGCCATGCCGTGGTGCACAC	0.627												
ZNF124	7678	broad.mit.edu	37	1	247320205	247320205	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:247320205C>T	uc001ick.2	-	4	858	c.719G>A	c.(718-720)GGC>GAC	p.G240D	ZNF124_uc001ici.2_Intron|ZNF124_uc001icj.1_Missense_Mutation_p.G178D	NM_003431	NP_003422	Q15973	ZN124_HUMAN	zinc finger protein 124	240	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			GAAAGCTTTGCCACATTCCAT	0.443												
NLRP3	114548	broad.mit.edu	37	1	247587740	247587740	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:247587740T>C	uc001icr.2	+	5	1133	c.995T>C	c.(994-996)CTG>CCG	p.L332P	NLRP3_uc001ics.2_Missense_Mutation_p.L332P|NLRP3_uc001icu.2_Missense_Mutation_p.L332P|NLRP3_uc001icw.2_Missense_Mutation_p.L332P|NLRP3_uc001icv.2_Missense_Mutation_p.L332P|NLRP3_uc010pyw.1_Missense_Mutation_p.L330P|NLRP3_uc001ict.1_Missense_Mutation_p.L330P	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	332	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GACATTCTCCTGAGCAGCCTC	0.582												
OR11L1	391189	broad.mit.edu	37	1	248005009	248005009	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:248005009G>A	uc001idn.1	-	1	190	c.190C>T	c.(190-192)CAG>TAG	p.Q64*		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L,	64	Helical; Name=2; (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)			GAGAGATGCTGGAGGAACATG	0.557												
OR2L3	391192	broad.mit.edu	37	1	248223987	248223987	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:248223987G>A	uc001idx.1	+	1	4	c.4G>A	c.(4-6)GAA>AAA	p.E2K	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	2	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATGCCCCATGGAAAATTACAA	0.303												
OR2M5	127059	broad.mit.edu	37	1	248308959	248308959	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:248308959G>A	uc010pze.1	+	1	510	c.510G>A	c.(508-510)GGG>GGA	p.G170G		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	170	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CCTACTGTGGGTCTCGGGAAA	0.443												
IDI2	91734	broad.mit.edu	37	10	1070565	1070565	+	Silent	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:1070565G>T	uc001ifv.1	-	2	164	c.99C>A	c.(97-99)GCC>GCA	p.A33A	C10orf110_uc010qaf.1_Intron|C10orf110_uc001ifx.3_Intron|C10orf110_uc001ifw.3_Intron|C10orf110_uc001ify.3_Intron	NM_033261	NP_150286	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	33					carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding				0		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		TCTTGGTGTCGGCACCAATAA	0.478												
FBXO18	84893	broad.mit.edu	37	10	5948257	5948257	+	Missense_Mutation	SNP	C	C	T	rs150913018		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:5948257C>T	uc001iis.2	+	3	510	c.415C>T	c.(415-417)CGG>TGG	p.R139W	FBXO18_uc001iir.2_Missense_Mutation_p.R65W|FBXO18_uc009xig.2_Missense_Mutation_p.R65W|FBXO18_uc001iit.2_Missense_Mutation_p.R190W	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 2	139	F-box.				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3						CGGGACCAGCCGGTGGGATGG	0.617												
NMT2	9397	broad.mit.edu	37	10	15175100	15175100	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:15175100T>C	uc001inz.1	-	5	638	c.554A>G	c.(553-555)GAT>GGT	p.D185G	NMT2_uc001ioa.1_Missense_Mutation_p.D172G|NMT2_uc009xjo.1_Missense_Mutation_p.D185G|NMT2_uc010qbz.1_5'UTR	NM_004808	NP_004799	O60551	NMT2_HUMAN	N-myristoyltransferase 2	185					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			ovary(1)	1						ATTGTCATCATCTTCTACGTA	0.418												
CUBN	8029	broad.mit.edu	37	10	17146585	17146585	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:17146585A>C	uc001ioo.2	-	12	1302	c.1250T>G	c.(1249-1251)TTT>TGT	p.F417C		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	417	EGF-like 6.				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)	ACACTTACAAAAATAACCAGA	0.373												
ST8SIA6	338596	broad.mit.edu	37	10	17363172	17363172	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:17363172G>A	uc001ipd.2	-	8	902	c.902C>T	c.(901-903)CCC>CTC	p.P301L	ST8SIA6_uc010qce.1_RNA	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide	301	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(1)	1						CAGGTACTTGGGATGGAAAAA	0.468												
CACNB2	783	broad.mit.edu	37	10	18828510	18828510	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:18828510C>T	uc001ipr.2	+	14	1900	c.1840C>T	c.(1840-1842)CGA>TGA	p.R614*	CACNB2_uc009xjz.1_Nonsense_Mutation_p.R364*|CACNB2_uc001ips.2_Nonsense_Mutation_p.R590*|CACNB2_uc001ipt.2_Nonsense_Mutation_p.R576*|CACNB2_uc001ipu.2_Nonsense_Mutation_p.R586*|CACNB2_uc001ipv.2_Nonsense_Mutation_p.R562*|CACNB2_uc009xka.1_Nonsense_Mutation_p.R548*|CACNB2_uc001ipw.2_Nonsense_Mutation_p.R521*|CACNB2_uc001ipx.2_Nonsense_Mutation_p.R559*|CACNB2_uc001ipz.2_Nonsense_Mutation_p.R536*|CACNB2_uc001ipy.2_Nonsense_Mutation_p.R560*|CACNB2_uc010qco.1_Nonsense_Mutation_p.R528*|CACNB2_uc001iqa.2_Nonsense_Mutation_p.R566*|NSUN6_uc001iqb.2_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	614					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGACGTGGATCGAGAGCAGGA	0.552												
PLXDC2	84898	broad.mit.edu	37	10	20465998	20465998	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:20465998G>A	uc001iqg.1	+	8	1591	c.954G>A	c.(952-954)TCG>TCA	p.S318S	PLXDC2_uc001iqh.1_Silent_p.S269S|PLXDC2_uc009xkc.1_RNA	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	plexin domain containing 2 precursor	318	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4						CCAACATTTCGGCTGTGGAGA	0.323												
PIP4K2A	5305	broad.mit.edu	37	10	22880634	22880634	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:22880634T>C	uc001irl.3	-	4	664	c.416A>G	c.(415-417)GAC>GGC	p.D139G	PIP4K2A_uc010qcu.1_5'UTR	NM_005028	NP_005019	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	139	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			ovary(1)|skin(1)	2						GTATCTTTTGTCGTAGGAAGT	0.498												
ARMC3	219681	broad.mit.edu	37	10	23319585	23319585	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:23319585A>G	uc001irm.3	+	17	2189	c.2106A>G	c.(2104-2106)GTA>GTG	p.V702V	ARMC3_uc010qcv.1_Silent_p.V695V|ARMC3_uc010qcw.1_Silent_p.V439V	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	702							binding				0						TTATGGTGGTACCAAAATTTG	0.299												
KIAA1217	56243	broad.mit.edu	37	10	24832970	24832970	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:24832970A>G	uc001iru.3	+	19	5174	c.4771A>G	c.(4771-4773)ACC>GCC	p.T1591A	KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Intron|KIAA1217_uc010qcz.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Missense_Mutation_p.T1274A|KIAA1217_uc001iry.2_Intron|KIAA1217_uc001isa.1_Missense_Mutation_p.T427A	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1591					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						AGCCATTCGCACCGGAACTAA	0.483												
KIAA1217	56243	broad.mit.edu	37	10	24834018	24834018	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:24834018C>T	uc001iru.3	+	20	5723	c.5320C>T	c.(5320-5322)CGC>TGC	p.R1774C	KIAA1217_uc001irs.2_Missense_Mutation_p.R1095C|KIAA1217_uc001irt.3_Missense_Mutation_p.R1140C|KIAA1217_uc010qcy.1_Missense_Mutation_p.R1205C|KIAA1217_uc010qcz.1_Missense_Mutation_p.R1180C|KIAA1217_uc001irw.2_Missense_Mutation_p.R924C|KIAA1217_uc001irz.2_Missense_Mutation_p.R858C|KIAA1217_uc001irx.2_Missense_Mutation_p.R1457C|KIAA1217_uc001iry.2_Missense_Mutation_p.R898C	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1774					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						GCAGGATCCCCGCCAATATCG	0.502												
KIAA1217	56243	broad.mit.edu	37	10	24835181	24835181	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:24835181C>T	uc001iru.3	+	21	6163	c.5760C>T	c.(5758-5760)AGC>AGT	p.S1920S	KIAA1217_uc001irs.2_Silent_p.S1241S|KIAA1217_uc001irt.3_Silent_p.S1286S|KIAA1217_uc010qcy.1_Silent_p.S1351S|KIAA1217_uc010qcz.1_Silent_p.S1326S|KIAA1217_uc001irw.2_3'UTR|KIAA1217_uc001irz.2_3'UTR|KIAA1217_uc001irx.2_3'UTR|KIAA1217_uc001iry.2_3'UTR	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	1920					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						ATACTCCCAGCCTCACCAGCT	0.368												
MYO3A	53904	broad.mit.edu	37	10	26455050	26455050	+	Silent	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:26455050C>A	uc001isn.2	+	27	3414	c.3054C>A	c.(3052-3054)ACC>ACA	p.T1018T	MYO3A_uc009xko.1_Silent_p.T1018T|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1018	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						GCCCTGACACCTGTGCCACCA	0.423												
ZNF248	57209	broad.mit.edu	37	10	38121220	38121220	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:38121220T>C	uc001izd.1	-	6	1562	c.1063A>G	c.(1063-1065)AAT>GAT	p.N355D	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.N355D	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CCATTTTCATTGTAATCATAA	0.393												
ZNF37A	7587	broad.mit.edu	37	10	38406985	38406985	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:38406985T>C	uc001izk.2	+	8	1725	c.906T>C	c.(904-906)CAT>CAC	p.H302H	ZNF37A_uc001izl.2_Silent_p.H302H|ZNF37A_uc001izm.2_Silent_p.H302H	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN	zinc finger protein 37a	302	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)	1						ATGAATGTCATGAATGTGGGA	0.413												
OGDHL	55753	broad.mit.edu	37	10	50946001	50946001	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:50946001G>A	uc001jie.2	-	19	2651	c.2509C>T	c.(2509-2511)CGC>TGC	p.R837C	OGDHL_uc009xog.2_Missense_Mutation_p.R864C|OGDHL_uc010qgt.1_Missense_Mutation_p.R780C|OGDHL_uc010qgu.1_Missense_Mutation_p.R628C	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	837					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.R837L(1)		pancreas(1)	1						ACCGGCTTGCGGAAGGGCAGC	0.652												
DKK1	22943	broad.mit.edu	37	10	54074807	54074807	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:54074807G>A	uc001jjr.2	+	2	522	c.368G>A	c.(367-369)CGT>CAT	p.R123H	uc001jjq.1_5'Flank|uc009xox.1_5'Flank	NM_012242	NP_036374	O94907	DKK1_HUMAN	dickkopf homolog 1 precursor	123	DKK-type Cys-1.				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3						CGCTGCATGCGTCACGCTATG	0.562											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SLC16A9	220963	broad.mit.edu	37	10	61412656	61412656	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:61412656G>A	uc010qig.1	-	6	1853	c.1404C>T	c.(1402-1404)GGC>GGT	p.G468G		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	solute carrier family 16 (monocarboxylic acid	468	Helical; (Potential).				urate metabolic process	integral to membrane|plasma membrane	symporter activity			skin(2)|ovary(1)	3						GGACGCAGAAGCCACTAAAAT	0.433												
ANK3	288	broad.mit.edu	37	10	61846435	61846435	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:61846435C>A	uc001jky.2	-	30	3940	c.3748G>T	c.(3748-3750)GGG>TGG	p.G1250W	ANK3_uc001jkw.2_Missense_Mutation_p.G384W|ANK3_uc009xpa.2_Missense_Mutation_p.G384W|ANK3_uc001jkx.2_Missense_Mutation_p.G428W|ANK3_uc010qih.1_Missense_Mutation_p.G1251W|ANK3_uc001jkz.3_Missense_Mutation_p.G1244W|ANK3_uc001jla.1_Missense_Mutation_p.G316W|ANK3_uc001jlb.1_Missense_Mutation_p.G768W	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1250					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TTAACCAAACCTGTAATGCTA	0.423												
TET1	80312	broad.mit.edu	37	10	70426987	70426987	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:70426987C>T	uc001jok.3	+	7	5152	c.4647C>T	c.(4645-4647)ACC>ACT	p.T1549T		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1549					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						GGCACCCTACCGACAGAAGAT	0.418												
TET1	80312	broad.mit.edu	37	10	70450635	70450635	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:70450635A>G	uc001jok.3	+	12	5980	c.5475A>G	c.(5473-5475)TCA>TCG	p.S1825S		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1825					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						TAAAAAGTTCAGACAACACTA	0.458												
DDX50	79009	broad.mit.edu	37	10	70696828	70696828	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:70696828C>T	uc001jou.2	+	12	1839	c.1732C>T	c.(1732-1734)CGA>TGA	p.R578*	DDX50_uc010qjc.1_Nonsense_Mutation_p.R578*	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	nucleolar protein GU2	578						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1						CTTTGAACCACGATCTTTGAT	0.398												
SUPV3L1	6832	broad.mit.edu	37	10	70968476	70968476	+	Silent	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:70968476G>T	uc001jpe.1	+	15	2101	c.2046G>T	c.(2044-2046)ACG>ACT	p.T682T	SUPV3L1_uc010qjd.1_Silent_p.T551T	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 precursor	682	Interaction with HBXIP, important for protein stability.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			urinary_tract(1)|ovary(1)	2						TGTCTGAGACGCATAAGCTGT	0.448												
SGPL1	8879	broad.mit.edu	37	10	72630885	72630885	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:72630885T>C	uc001jrm.2	+	10	1113	c.891T>C	c.(889-891)CCT>CCC	p.P297P	SGPL1_uc009xqk.2_RNA	NM_003901	NP_003892	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	297	Cytoplasmic (Potential).				apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity				0					Pyridoxal Phosphate(DB00114)	TAATAGATCCTGTCCCTGAAG	0.438												
CDH23	64072	broad.mit.edu	37	10	73567408	73567408	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:73567408G>A	uc001jrx.3	+	57	8821	c.8444G>A	c.(8443-8445)CGT>CAT	p.R2815H	CDH23_uc001jsg.3_Missense_Mutation_p.R575H|CDH23_uc001jsh.3_Missense_Mutation_p.R575H|CDH23_uc001jsi.3_Missense_Mutation_p.R575H	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	2815	Cadherin 26.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						ACACCTCCCCGTGGACCCTCC	0.622												
OIT3	170392	broad.mit.edu	37	10	74658557	74658557	+	Missense_Mutation	SNP	C	C	T	rs141122150		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:74658557C>T	uc001jte.1	+	2	415	c.197C>T	c.(196-198)GCG>GTG	p.A66V	OIT3_uc009xqs.1_RNA	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	oncoprotein-induced transcript 3 precursor	66						nuclear envelope	calcium ion binding			ovary(2)	2	Prostate(51;0.0198)					ACGGGCATGGCGGGAGATGCC	0.567												
CAMK2G	818	broad.mit.edu	37	10	75620588	75620588	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:75620588C>T	uc001jvv.1	-	3	320	c.196G>A	c.(196-198)GTG>ATG	p.V66M	CAMK2G_uc001jvm.1_Missense_Mutation_p.V74M|CAMK2G_uc001jvo.1_Missense_Mutation_p.V74M|CAMK2G_uc001jvq.1_Missense_Mutation_p.V74M|CAMK2G_uc001jvr.1_Missense_Mutation_p.V74M|CAMK2G_uc001jvp.1_Missense_Mutation_p.V74M|CAMK2G_uc001jvs.1_Missense_Mutation_p.V74M|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Missense_Mutation_p.V74M|CAMK2G_uc010qkv.1_5'UTR	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II	74	Protein kinase.				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			lung(1)|stomach(1)	2	Prostate(51;0.0112)					AGGCACTCACCGATGTTTGGA	0.453												
VCL	7414	broad.mit.edu	37	10	75843188	75843188	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:75843188T>C	uc001jwd.2	+	8	1033	c.939T>C	c.(937-939)TGT>TGC	p.C313C	VCL_uc009xrr.2_Silent_p.C62C|VCL_uc010qky.1_Silent_p.C220C|VCL_uc001jwe.2_Silent_p.C313C|VCL_uc010qkz.1_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	vinculin isoform meta-VCL	313	1.|N-terminal globular head.|3 X 112 AA tandem repeats.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	kidney(4)|ovary(1)|central_nervous_system(1)	6	Prostate(51;0.0112)					GTGAACTCTGTGCAGGCAAAG	0.458												
ZMIZ1	57178	broad.mit.edu	37	10	81051995	81051995	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:81051995C>T	uc001kaf.2	+	11	1411	c.839C>T	c.(838-840)GCG>GTG	p.A280V	ZMIZ1_uc001kag.2_Missense_Mutation_p.A156V|ZMIZ1_uc001kah.1_Missense_Mutation_p.A156V	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	280	Ala-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ACTCAGCCCgcggcagccgct	0.522												
ZMIZ1	57178	broad.mit.edu	37	10	81060696	81060696	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:81060696C>T	uc001kaf.2	+	17	2588	c.2016C>T	c.(2014-2016)TGC>TGT	p.C672C	ZMIZ1_uc001kag.2_Silent_p.C548C	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	retinoic acid induced 17	672					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			ovary(2)|breast(1)|skin(1)	4	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CGGCCTGCTGCTGCGTGAGTG	0.647												
CDHR1	92211	broad.mit.edu	37	10	85973974	85973974	+	Missense_Mutation	SNP	G	G	A	rs142917517		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:85973974G>A	uc001kcv.2	+	17	2177	c.2177G>A	c.(2176-2178)CGC>CAC	p.R726H	CDHR1_uc001kcw.2_Intron|CDHR1_uc009xst.2_Missense_Mutation_p.R430H|CDHR1_uc001kcx.2_Missense_Mutation_p.R40H	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	726	Cytoplasmic (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						ACCTTCTGGCGCAACAAGAAG	0.642												
PAPSS2	9060	broad.mit.edu	37	10	89487166	89487166	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:89487166G>A	uc001kex.2	+	8	1254	c.991G>A	c.(991-993)GCT>ACT	p.A331T	PAPSS2_uc001kew.2_Missense_Mutation_p.A336T|PAPSS2_uc009xtg.1_RNA	NM_004670	NP_004661	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	331	Adenylyl-sulfate kinase.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|skin(1)	2		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CTTACGAGACGCTGAATTCTA	0.493												
CH25H	9023	broad.mit.edu	37	10	90966256	90966256	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:90966256C>T	uc001kfz.2	-	1	816	c.794G>A	c.(793-795)CGG>CAG	p.R265Q		NM_003956	NP_003947	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	265					bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process	cytosol|endoplasmic reticulum membrane|integral to membrane	cholesterol 25-hydroxylase activity|iron ion binding				0		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		AGATGCAGTCCGCAGCGTTCC	0.557												
IFIT5	24138	broad.mit.edu	37	10	91177661	91177661	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:91177661A>G	uc010qnh.1	+	2	936	c.705A>G	c.(703-705)GAA>GAG	p.E235E	IFIT5_uc010qng.1_Silent_p.E187E	NM_012420	NP_036552	Q13325	IFIT5_HUMAN	interferon-induced protein with	235							binding				0						CTGAAGGGGAAAAGTATATTG	0.423												
SLC16A12	387700	broad.mit.edu	37	10	91192956	91192956	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:91192956C>A	uc001kgm.2	-	8	1717	c.1326G>T	c.(1324-1326)CAG>CAT	p.Q442H	SLC16A12_uc001kgl.2_Missense_Mutation_p.Q114H	NM_213606	NP_998771	Q6ZSM3	MOT12_HUMAN	solute carrier family 16 (monocarboxylic acid	442	Extracellular (Potential).					integral to membrane|plasma membrane	symporter activity			skin(1)	1						TGGCAATGAACTGCAACTGGG	0.423												
MYOF	26509	broad.mit.edu	37	10	95157162	95157162	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:95157162C>T	uc001kin.2	-	14	1396	c.1273G>A	c.(1273-1275)GTC>ATC	p.V425I	MYOF_uc001kio.2_Missense_Mutation_p.V425I|MYOF_uc001kip.3_Missense_Mutation_p.V425I|MYOF_uc009xuf.2_Missense_Mutation_p.V407I	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	425	Cytoplasmic (Potential).|C2 3.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						TGAAGATTGACGACCTGATTC	0.294												
ALDH18A1	5832	broad.mit.edu	37	10	97402812	97402812	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:97402812G>A	uc001kkz.2	-	3	482	c.240C>T	c.(238-240)GCC>GCT	p.A80A	ALDH18A1_uc001kky.2_Silent_p.A80A|ALDH18A1_uc010qog.1_Intron|ALDH18A1_uc010qoh.1_Intron	NM_002860	NP_002851	P54886	P5CS_HUMAN	pyrroline-5-carboxylate synthetase isoform 1	80	Glutamate 5-kinase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			pancreas(1)|central_nervous_system(1)|skin(1)	3		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	GGGTCACCACGGCACTGCCGA	0.532												
CCNJ	54619	broad.mit.edu	37	10	97817760	97817760	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:97817760C>T	uc001klm.2	+	6	1240	c.881C>T	c.(880-882)ACG>ATG	p.T294M	uc001klg.1_Intron|uc001klj.1_Intron|uc009xvb.1_Intron|CCNJ_uc010qoq.1_Missense_Mutation_p.T305M|CCNJ_uc001kln.2_Missense_Mutation_p.T293M	NM_019084	NP_061957	Q5T5M9	CCNJ_HUMAN	cyclin J isoform 2	294						nucleus				ovary(1)	1				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		CGCCATCCTACGTCAGAACAA	0.507												
TM9SF3	56889	broad.mit.edu	37	10	98336438	98336438	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:98336438A>C	uc001kmm.3	-	2	468	c.251T>G	c.(250-252)CTT>CGT	p.L84R	TM9SF3_uc010qot.1_Missense_Mutation_p.L84R	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3 precursor	84						integral to membrane	binding				0		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		AACCCCTTGAAGTGCTTCTCC	0.333												
SLIT1	6585	broad.mit.edu	37	10	98766417	98766417	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:98766417A>G	uc001kmw.2	-	32	3654	c.3402T>C	c.(3400-3402)ACT>ACC	p.T1134T		NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	1134	EGF-like 6.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			ovary(4)	4		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCTGGCACTCAGTCCCCTCAC	0.607												
CRTAC1	55118	broad.mit.edu	37	10	99677300	99677300	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:99677300C>T	uc001kou.1	-	5	1028	c.672G>A	c.(670-672)GCG>GCA	p.A224A	CRTAC1_uc001kov.2_Silent_p.A213A|CRTAC1_uc001kot.1_Silent_p.A14A	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1 precursor	224						proteinaceous extracellular matrix	calcium ion binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CATCTCTGAGCGCCAGAATGC	0.577												
COX15	1355	broad.mit.edu	37	10	101476115	101476115	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:101476115G>A	uc001kqb.3	-	8	1708	c.1091C>T	c.(1090-1092)GCG>GTG	p.A364V	COX15_uc001kqc.3_Missense_Mutation_p.A364V|COX15_uc010qpj.1_Missense_Mutation_p.A185V	NM_078470	NP_510870	Q7KZN9	COX15_HUMAN	COX15 homolog isoform 1	364	Helical; (Potential).				heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		CTGTGTATACGCCAAAGCCAG	0.368												
ABCC2	1244	broad.mit.edu	37	10	101591751	101591751	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:101591751G>T	uc001kqf.2	+	23	3260	c.3121G>T	c.(3121-3123)GCA>TCA	p.A1041S		NM_000392	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP),	1041	ABC transmembrane type-1 2.|Helical; Name=13; (By similarity).					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGTGTTCATAGCACATTTCTG	0.433												
FAM178A	55719	broad.mit.edu	37	10	102676365	102676365	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:102676365A>G	uc001krt.3	+	3	765	c.223A>G	c.(223-225)AAA>GAA	p.K75E	FAM178A_uc001krr.1_Missense_Mutation_p.K75E|FAM178A_uc001krs.2_Missense_Mutation_p.K75E|FAM178A_uc001kru.1_Missense_Mutation_p.K11E	NM_018121	NP_060591	Q8IX21	F178A_HUMAN	hypothetical protein LOC55719 isoform 1	75											0						ATCAAACATCAAATATGGAGG	0.328												
KAZALD1	81621	broad.mit.edu	37	10	102822357	102822357	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:102822357C>T	uc001ksr.2	+	2	933	c.8C>T	c.(7-9)CCG>CTG	p.P3L	KAZALD1_uc001kss.3_RNA|KAZALD1_uc001kst.1_Missense_Mutation_p.P3L	NM_030929	NP_112191	Q96I82	KAZD1_HUMAN	Kazal-type serine peptidase inhibitor domain 1	3					cell differentiation|multicellular organismal development|ossification|regulation of cell growth		insulin-like growth factor binding				0				Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		ACCAtgctgccgccgccgcgg	0.433												
CYP17A1	1586	broad.mit.edu	37	10	104592406	104592406	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:104592406T>C	uc001kwg.2	-	6	1173	c.1001A>G	c.(1000-1002)CAG>CGG	p.Q334R		NM_000102	NP_000093	P05093	CP17A_HUMAN	cytochrome P450, family 17	334					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity				0		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	ACCCACATTCTGGTCAATCTC	0.557												
COL17A1	1308	broad.mit.edu	37	10	105795035	105795035	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:105795035G>A	uc001kxr.2	-	50	3774	c.3605C>T	c.(3604-3606)TCG>TTG	p.S1202L	COL17A1_uc001kxq.2_5'Flank	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	1202	Extracellular (Potential).|Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TAAGTAAGACGAGAGGTCCTC	0.612												
CCDC147	159686	broad.mit.edu	37	10	106166475	106166475	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:106166475T>C	uc001kyh.2	+	15	2314	c.2180T>C	c.(2179-2181)ATA>ACA	p.I727T		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	727	Potential.									ovary(2)|central_nervous_system(2)|skin(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TATGAGCTGATACAGAAAATT	0.463												
XPNPEP1	7511	broad.mit.edu	37	10	111624956	111624956	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:111624956A>T	uc001kyp.1	-	21	1998	c.1858T>A	c.(1858-1860)TCC>ACC	p.S620T	XPNPEP1_uc009xxt.1_Missense_Mutation_p.S639T|XPNPEP1_uc001kyq.1_Missense_Mutation_p.S549T	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1,	620					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			ovary(3)|pancreas(1)	4		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TGCTGTTTGGAGATGGGTTGC	0.488												
SMC3	9126	broad.mit.edu	37	10	112361628	112361628	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:112361628C>T	uc001kze.2	+	24	3004	c.2878C>T	c.(2878-2880)CTG>TTG	p.L960L		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	960	Potential.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GTACCAGACACTGAGCCTCAA	0.328												
PNLIPRP3	119548	broad.mit.edu	37	10	118196325	118196325	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:118196325A>C	uc001lcl.3	+	2	253	c.152A>C	c.(151-153)AAG>ACG	p.K51T		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3 precursor	51					lipid catabolic process	extracellular region	triglyceride lipase activity			ovary(1)	1				all cancers(201;0.0131)		TCTCCAGAGAAGATAAACACT	0.403												
EMX2	2018	broad.mit.edu	37	10	119303110	119303110	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:119303110C>A	uc001ldh.3	+	1	1155	c.332C>A	c.(331-333)TCG>TAG	p.S111*	EMX2OS_uc001ldf.2_5'Flank|EMX2OS_uc001ldg.2_Intron|EMX2_uc001ldi.3_Nonsense_Mutation_p.S111*	NM_004098	NP_004089	Q04743	EMX2_HUMAN	empty spiracles homeobox 2 isoform 1	111						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		CTATTCGCCTCGCAGCAGCGG	0.697												
CPXM2	119587	broad.mit.edu	37	10	125516743	125516743	+	Missense_Mutation	SNP	C	C	T	rs78179127	by1000genomes	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:125516743C>T	uc001lhk.1	-	12	2228	c.1903G>A	c.(1903-1905)GTG>ATG	p.V635M	CPXM2_uc001lhj.2_RNA	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	635					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)		TCCATGAACACGATCAGAGAT	0.537												
LHPP	64077	broad.mit.edu	37	10	126186604	126186604	+	Splice_Site	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:126186604G>T	uc001lhs.1	+	5	552	c.532_splice	c.e5-1	p.Y178_splice	LHPP_uc001lht.1_Splice_Site_p.Y178_splice|LHPP_uc009yai.1_Intron	NM_022126	NP_071409	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic						protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity				0		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		TCTTTTCCCAGTATGCCTGTG	0.537												
MMP21	118856	broad.mit.edu	37	10	127462511	127462511	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:127462511G>A	uc001liu.2	-	2	586	c.586C>T	c.(586-588)CGC>TGC	p.R196C		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	matrix metalloproteinase 21 preproprotein	196					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GCCACAATGCGCCGCTGGTCG	0.721												
ADAM12	8038	broad.mit.edu	37	10	128076637	128076637	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:128076637G>A	uc001ljk.2	-	1	491	c.78C>T	c.(76-78)TGC>TGT	p.C26C	ADAM12_uc010qul.1_Silent_p.C26C|ADAM12_uc001ljm.2_Silent_p.C26C|ADAM12_uc001ljn.2_Silent_p.C26C|ADAM12_uc001ljl.3_Silent_p.C26C	NM_003474	NP_003465	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12 isoform 1	26					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CTCGGGCCTCGCAGGGCGCGA	0.786												
DOCK1	1793	broad.mit.edu	37	10	129245732	129245732	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:129245732G>A	uc001ljt.2	+	51	5489	c.5425G>A	c.(5425-5427)GCA>ACA	p.A1809T	DOCK1_uc010qun.1_Missense_Mutation_p.A1830T|DOCK1_uc009yaq.2_Missense_Mutation_p.G808D|DOCK1_uc001ljw.1_5'Flank	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1809	Interaction with NCK2 second and third SH3 domain (minor).				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AGGCAGCGTGGCAGATTACGG	0.567												
PWWP2B	170394	broad.mit.edu	37	10	134219544	134219544	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:134219544G>A	uc001lll.3	+	2	1569	c.1540G>A	c.(1540-1542)GGC>AGC	p.G514S	PWWP2B_uc009ybe.2_Intron	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2 isoform 1	514	PWWP.										0		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CATCAGTCTCGGCCAGAAGGA	0.567												
KNDC1	85442	broad.mit.edu	37	10	135015215	135015215	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:135015215C>T	uc001llz.1	+	17	3201	c.3200C>T	c.(3199-3201)ACC>ATC	p.T1067I	KNDC1_uc001lma.1_Missense_Mutation_p.T1002I|KNDC1_uc001lmb.1_Missense_Mutation_p.T479I	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1067					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)		GAGGCAGTGACCCGACTGGCC	0.692												
MUC6	4588	broad.mit.edu	37	11	1026404	1026404	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:1026404G>A	uc001lsw.2	-	20	2520	c.2469C>T	c.(2467-2469)CCC>CCT	p.P823P		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	823					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)		ACTCCTCGGGGGGCACACACT	0.642												
MUC2	4583	broad.mit.edu	37	11	1095795	1095795	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:1095795C>T	uc001lsx.1	+	36	13419	c.13392C>T	c.(13390-13392)CGC>CGT	p.R4464R		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	4464						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)	AACCCGTGCGCGTCGAGGACC	0.687												
MUC5B	727897	broad.mit.edu	37	11	1265003	1265003	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:1265003C>A	uc009ycr.1	+	48	8933	c.8807C>A	c.(8806-8808)CCC>CAC	p.P2936H	MUC5B_uc001ltb.2_Missense_Mutation_p.P2301H	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	2298	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCCTGCTGCCCAGCAGCCCC	0.687												
MUC5B	727897	broad.mit.edu	37	11	1267404	1267404	+	Silent	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:1267404C>A	uc009ycr.1	+	49	11169	c.11043C>A	c.(11041-11043)TCC>TCA	p.S3681S	MUC5B_uc001ltb.2_Silent_p.S3101S	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	3098	7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCCCTCCTCCACTCCGGAGA	0.637												
MUC5B	727897	broad.mit.edu	37	11	1275943	1275943	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:1275943C>T	uc009ycr.1	+	57	16634	c.16508C>T	c.(16507-16509)CCG>CTG	p.P5503L	MUC5B_uc001ltb.2_Missense_Mutation_p.P5169L	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	5166	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GACCAAATTCCGGTGAGCAGC	0.622												
STIM1	6786	broad.mit.edu	37	11	4045107	4045107	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:4045107T>C	uc001lyv.2	+	3	843	c.275T>C	c.(274-276)CTG>CCG	p.L92P	STIM1_uc009yef.2_Missense_Mutation_p.L92P	NM_003156	NP_003147	Q13586	STIM1_HUMAN	stromal interaction molecule 1 precursor	92	EF-hand.|Extracellular (Potential).				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			pancreas(1)	1		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		TTGCAGTTCCTGAGGGAAGAC	0.507												
OR52R1	119695	broad.mit.edu	37	11	4825255	4825255	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:4825255A>G	uc010qym.1	-	1	593	c.593T>C	c.(592-594)ATG>ACG	p.M198T		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R,	119	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCCATAGCCATGAGCACCCC	0.532												
OR51S1	119692	broad.mit.edu	37	11	4870019	4870019	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:4870019G>C	uc010qyo.1	-	1	420	c.420C>G	c.(418-420)TAC>TAG	p.Y140*		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S,	140	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGAGCGCTGGGTAGTGGAGAG	0.522												
OR51I1	390063	broad.mit.edu	37	11	5462646	5462646	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:5462646G>T	uc010qze.1	-	1	99	c.99C>A	c.(97-99)TTC>TTA	p.F33L	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,	33	Helical; Name=1; (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)		AGAGGATGCAGAAAATCAGGG	0.527												
NLRP14	338323	broad.mit.edu	37	11	7065123	7065123	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:7065123T>C	uc001mfb.1	+	4	2189	c.1866T>C	c.(1864-1866)CTT>CTC	p.L622L		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	622					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)		CTTTCTGCCTTAAGCACTGCC	0.398												
PPFIBP2	8495	broad.mit.edu	37	11	7586879	7586879	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:7586879A>G	uc001mfj.3	+	3	548	c.160A>G	c.(160-162)ATC>GTC	p.I54V		NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2	54					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			ovary(2)|breast(2)	4				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GCTCCATCTCATCGAGGACTT	0.572												
EIF4G2	1982	broad.mit.edu	37	11	10824639	10824639	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:10824639G>A	uc001mjc.2	-	11	1351	c.934C>T	c.(934-936)CGC>TGC	p.R312C	EIF4G2_uc001mjb.2_Missense_Mutation_p.R106C|EIF4G2_uc009ygf.2_Missense_Mutation_p.R106C|EIF4G2_uc001mjd.2_Missense_Mutation_p.R312C|EIF4G2_uc001mjf.1_Missense_Mutation_p.R106C|SNORD97_uc009yge.2_5'Flank	NM_001418	NP_001409	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4	312					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AAAGCCTTGCGAGGAACCCAA	0.338												
SPON1	10418	broad.mit.edu	37	11	14063134	14063134	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:14063134C>T	uc001mle.2	+	3	950	c.412C>T	c.(412-414)CGG>TGG	p.R138W		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein	138	Reelin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding				0				Epithelial(150;0.00898)		AAGCACTCCACGGAGGAGGAC	0.468												
MRGPRX4	117196	broad.mit.edu	37	11	18195721	18195721	+	Silent	SNP	G	G	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:18195721G>C	uc001mnv.1	+	1	1338	c.918G>C	c.(916-918)GGG>GGC	p.G306G		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	306	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						AAGGTGAAGGGCAGCTTCCTG	0.567												
IGSF22	283284	broad.mit.edu	37	11	18743459	18743459	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:18743459T>C	uc009yht.2	-	3	429	c.239A>G	c.(238-240)GAG>GGG	p.E80G	IGSF22_uc001mpa.2_RNA	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	80	Ig-like 1.									ovary(4)|large_intestine(2)|kidney(1)	7						CAACACACCCTCGGGCGCGGT	0.607											OREG0020822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MRGPRX2	117194	broad.mit.edu	37	11	19077849	19077849	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:19077849A>G	uc001mph.2	-	2	189	c.101T>C	c.(100-102)GTC>GCC	p.V34A		NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	34	Helical; Name=1; (Potential).				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			ovary(1)	1						GATCAGGAAGACCGGGATCAG	0.557												
SLC17A6	57084	broad.mit.edu	37	11	22364897	22364897	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:22364897G>A	uc001mqk.2	+	3	857	c.444G>A	c.(442-444)CGG>CGA	p.R148R		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	148	Cytoplasmic (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4						TCGCGTCTCGGCTGGCAGCCA	0.597												
PAX6	5080	broad.mit.edu	37	11	31823241	31823241	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:31823241T>C	uc001mtd.3	-	5	1115	c.225A>G	c.(223-225)AAA>AAG	p.K75K	PAX6_uc001mte.3_Silent_p.K75K|PAX6_uc001mtg.3_Silent_p.K89K|PAX6_uc001mtf.3_Silent_p.K75K|PAX6_uc001mth.3_Silent_p.K75K|PAX6_uc009yjr.2_Silent_p.K75K	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	paired box gene 6 isoform a	75	Paired.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	Lung SC(675;0.225)					CTACTCTCGGTTTACTACCAC	0.512									Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation			
CSTF3	1479	broad.mit.edu	37	11	33124659	33124659	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:33124659T>C	uc001muh.2	-	9	823	c.657A>G	c.(655-657)GTA>GTG	p.V219V	TCP11L1_uc001muf.1_Intron	NM_001326	NP_001317	Q12996	CSTF3_HUMAN	cleavage stimulation factor subunit 3 isoform 1	219					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding				0						ATACCTTTGCTACACGTCTAG	0.299												
RAG1	5896	broad.mit.edu	37	11	36595836	36595836	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:36595836T>C	uc001mwu.3	+	2	1106	c.982T>C	c.(982-984)TGT>CGT	p.C328R	RAG1_uc001mwt.2_RNA	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	328	RING-type.	Zinc 3 (By similarity).	C -> Y (in OS).		histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	all_lung(20;0.226)	all_hematologic(20;0.107)				GGGCAGCTATTGTCCCTCTTG	0.498									Familial_Hemophagocytic_Lymphohistiocytosis			
PEX16	9409	broad.mit.edu	37	11	45936234	45936234	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:45936234A>G	uc001nbu.2	-	6	774	c.462T>C	c.(460-462)GAT>GAC	p.D154D	PEX16_uc001nbt.2_Silent_p.D154D	NM_004813	NP_004804	Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16 isoform 1	154	Cytoplasmic (Potential).				ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			ovary(2)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.223)		TGTGGTCACCATCTAGCAGGG	0.572												
CHRM4	1132	broad.mit.edu	37	11	46407805	46407805	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:46407805G>A	uc001nct.1	-	1	303	c.303C>T	c.(301-303)GGC>GGT	p.G101G		NM_000741	NP_000732	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	101	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)	AGACCACGGCGCCCAGGGGCC	0.572												
ARHGAP1	392	broad.mit.edu	37	11	46701278	46701278	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:46701278A>T	uc001ndd.2	-	11	1016	c.947T>A	c.(946-948)GTC>GAC	p.V316D		NM_004308	NP_004299	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	316	Rho-GAP.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			skin(1)	1		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		CTTGAGGATGACTGCTGGCAG	0.612												
OR4A5	81318	broad.mit.edu	37	11	51412264	51412264	+	Silent	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:51412264C>A	uc001nhi.1	-	1	132	c.132G>T	c.(130-132)GTG>GTT	p.V44V		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	44	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(304;0.236)				TAATATCCACCACAATGAGCA	0.453												
OR4C15	81309	broad.mit.edu	37	11	55322033	55322033	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:55322033T>C	uc010rig.1	+	1	251	c.251T>C	c.(250-252)TTG>TCG	p.L84S		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GTTGTATTTTTGTTTGTCTAC	0.418										HNSCC(20;0.049)		
OR5J2	282775	broad.mit.edu	37	11	55944831	55944831	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:55944831T>C	uc010rjb.1	+	1	738	c.738T>C	c.(736-738)ACT>ACC	p.T246T		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	246	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)					CTCACCTGACTGCTGTGACCA	0.448												
OR5J2	282775	broad.mit.edu	37	11	55944903	55944903	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:55944903A>G	uc010rjb.1	+	1	810	c.810A>G	c.(808-810)CAA>CAG	p.Q270Q		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	270	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)					TTGTGGAACAAGAGAAAGTGG	0.438												
OR5J2	282775	broad.mit.edu	37	11	55944935	55944935	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:55944935G>T	uc010rjb.1	+	1	842	c.842G>T	c.(841-843)GGG>GTG	p.G281V		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	281	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)					TATACGCTAGGGATTCCCATG	0.388												
OR5AR1	219493	broad.mit.edu	37	11	56431414	56431414	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:56431414T>C	uc010rjm.1	+	1	253	c.253T>C	c.(253-255)TTC>CTC	p.F85L		NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR,	85	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GCTGGCTGACTTCCTAACAAA	0.488												
TMX2	51075	broad.mit.edu	37	11	57506647	57506647	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:57506647T>C	uc001nlc.1	+	7	708	c.659T>C	c.(658-660)CTG>CCG	p.L220P	CTNND1_uc001nlf.1_Intron|TMX2_uc001nld.1_Missense_Mutation_p.L126P|TMX2_uc001nle.1_Missense_Mutation_p.L182P|C11orf31_uc010rjx.1_5'Flank	NM_015959	NP_057043	Q9Y320	TMX2_HUMAN	thioredoxin domain containing 14 isoform 1	220	Cytoplasmic (Potential).|Thioredoxin.				cell redox homeostasis	integral to membrane					0						CTCCCTACCCTGATCCTGTTC	0.512												
AHNAK	79026	broad.mit.edu	37	11	62295967	62295967	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:62295967C>T	uc001ntl.2	-	5	6222	c.5922G>A	c.(5920-5922)GGG>GGA	p.G1974G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1974					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TAAACTTGGGCCCTTTCAACT	0.507												
TAF6L	10629	broad.mit.edu	37	11	62543364	62543364	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:62543364G>A	uc001nvc.2	+	2	210	c.109G>A	c.(109-111)GCA>ACA	p.A37T	TAF6L_uc010rmg.1_Missense_Mutation_p.A37T|TAF6L_uc009yof.2_Missense_Mutation_p.A37T	NM_006473	NP_006464	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II	37					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			ovary(3)	3						GGCGCTGCTCGCAGAGGACGT	0.607												
TAF6L	10629	broad.mit.edu	37	11	62554095	62554095	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:62554095G>T	uc001nvc.2	+	11	1297	c.1196G>T	c.(1195-1197)AGC>ATC	p.S399I	TMEM179B_uc001nvd.3_5'Flank	NM_006473	NP_006464	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II	399					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			ovary(3)	3						CCATGGGACAGCCTTCTCTTT	0.697											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NXF1	10482	broad.mit.edu	37	11	62569260	62569260	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:62569260G>A	uc001nvf.1	-	6	726	c.590C>T	c.(589-591)CCC>CTC	p.P197L	NXF1_uc001nvg.1_Missense_Mutation_p.P197L|NXF1_uc009yog.1_Missense_Mutation_p.P240L|NXF1_uc010rmh.1_Missense_Mutation_p.P60L	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1 isoform 1	197	Interaction with THOC4.|RRM.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			skin(3)	3						TATAGTGTGGGGTGGAGCAGA	0.468												
SLC22A25	387601	broad.mit.edu	37	11	62984953	62984953	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:62984953A>G	uc001nwr.1	-	4	663	c.663T>C	c.(661-663)ATT>ATC	p.I221I	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_Intron|SLC22A25_uc001nwt.1_Silent_p.I221I	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	putative UST1-like organic anion transporter	221	Helical; Name=4; (Potential).				transmembrane transport	integral to membrane				ovary(3)|skin(1)	4						TCCACTCTACAACTGAAAGAA	0.398												
GPR137	56834	broad.mit.edu	37	11	64054186	64054186	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:64054186G>A	uc001nzg.1	+	2	498	c.190G>A	c.(190-192)GCC>ACC	p.A64T	BAD_uc001nzd.2_5'Flank|BAD_uc001nzc.2_5'Flank|GPR137_uc009ypj.1_Missense_Mutation_p.A70T|BAD_uc009ypk.2_5'Flank|GPR137_uc010rni.1_Missense_Mutation_p.A122T|GPR137_uc001nze.1_Missense_Mutation_p.A64T|GPR137_uc001nzf.2_Missense_Mutation_p.A64T|GPR137_uc001nzh.1_Missense_Mutation_p.A64T|GPR137_uc001nzi.2_Missense_Mutation_p.A64T|GPR137_uc010rnj.1_Missense_Mutation_p.A64T	NM_020155	NP_064540	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	64	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1						GGTGTTCCTGGCCCTCTGTCT	0.612												
MRPL49	740	broad.mit.edu	37	11	64893062	64893062	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:64893062G>A	uc001oda.1	+	3	423	c.332G>A	c.(331-333)CGG>CAG	p.R111Q	MRPL49_uc001ocz.1_RNA	NM_004927	NP_004918	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49	111					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome				0						ACTGTGATCCGGAAAGTGGAA	0.572												
CAPN1	823	broad.mit.edu	37	11	64972290	64972290	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:64972290C>T	uc009yqd.1	+	11	1413	c.1302C>T	c.(1300-1302)TTC>TTT	p.F434F	CAPN1_uc001odf.1_Silent_p.F434F|CAPN1_uc001odg.1_Silent_p.F434F|CAPN1_uc010roa.1_Silent_p.F175F	NM_005186	NP_005177	P07384	CAN1_HUMAN	calpain 1, large subunit	434	Domain III.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			ovary(1)	1		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		AGCGCCGCTTCGGCCGCGACA	0.657											OREG0021073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MAP3K11	4296	broad.mit.edu	37	11	65367065	65367065	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:65367065C>T	uc001oew.2	-	9	2499	c.2006G>A	c.(2005-2007)CGC>CAC	p.R669H	MAP3K11_uc001oev.2_Missense_Mutation_p.R85H|MAP3K11_uc010rol.1_Missense_Mutation_p.R412H|MAP3K11_uc001oex.1_Missense_Mutation_p.R176H	NM_002419	NP_002410	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase	669	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						CCCGCGCTCGCGTCCTGGGCC	0.761												
DKFZp761E198	91056	broad.mit.edu	37	11	65545802	65545802	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:65545802G>A	uc001ofo.3	-	1	2021	c.1991C>T	c.(1990-1992)GCC>GTC	p.A664V		NM_138368	NP_612377	Q2VPB7	YK046_HUMAN	hypothetical protein LOC91056	664							protein binding				0				READ - Rectum adenocarcinoma(159;0.167)		CAGAGGGCGGGCAGGGCGGCC	0.662												
DKFZp761E198	91056	broad.mit.edu	37	11	65546165	65546165	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:65546165G>A	uc001ofo.3	-	1	1658	c.1628C>T	c.(1627-1629)GCC>GTC	p.A543V		NM_138368	NP_612377	Q2VPB7	YK046_HUMAN	hypothetical protein LOC91056	543							protein binding				0				READ - Rectum adenocarcinoma(159;0.167)		CAGCTGCCTGGCCAGCACCTG	0.706												
CTSW	1521	broad.mit.edu	37	11	65650135	65650135	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:65650135C>T	uc001ogc.1	+	6	636	c.594C>T	c.(592-594)GAC>GAT	p.D198D	CTSW_uc001ogb.1_Silent_p.D198D	NM_001335	NP_001326	P56202	CATW_HUMAN	cathepsin W preproprotein	198					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(159;0.168)		TCGTCTGGGACGCGTTCATAA	0.632												
KLC2	64837	broad.mit.edu	37	11	66033912	66033912	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:66033912G>A	uc010rov.1	+	15	1979	c.1736G>A	c.(1735-1737)CGG>CAG	p.R579Q	KLC2_uc010row.1_Missense_Mutation_p.R579Q|KLC2_uc009yra.2_Intron|KLC2_uc001ohb.2_Missense_Mutation_p.R579Q|KLC2_uc010rox.1_Missense_Mutation_p.R502Q|KLC2_uc001ohc.2_Missense_Mutation_p.R579Q|KLC2_uc001ohd.2_Missense_Mutation_p.R502Q|KLC2_uc001ohe.1_Missense_Mutation_p.R440Q|RAB1B_uc001ohf.2_5'Flank	NM_001134775	NP_001128247	Q9H0B6	KLC2_HUMAN	kinesin light chain 2 isoform 1	579					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0						AGGATGAAGCGGGCCAGTTCC	0.642												
SLC29A2	3177	broad.mit.edu	37	11	66130984	66130984	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:66130984C>T	uc001oht.2	-	12	1523	c.1294G>A	c.(1294-1296)GCC>ACC	p.A432T	SLC29A2_uc001ohs.2_Missense_Mutation_p.A312T|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_Missense_Mutation_p.A312T|SLC29A2_uc001ohu.2_Missense_Mutation_p.A432T|SLC29A2_uc001ohv.2_3'UTR	NM_001532	NP_001523	Q14542	S29A2_HUMAN	solute carrier family 29 (nucleoside	432	Helical; (Potential).				cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			ovary(1)	1						GTCATGAGGGCGCCGGCCACC	0.607												
C11orf80	79703	broad.mit.edu	37	11	66610523	66610523	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:66610523C>A	uc001ojf.2	+	16	1958	c.1951C>A	c.(1951-1953)CTC>ATC	p.L651I	C11orf80_uc001ojg.2_Missense_Mutation_p.L418I|C11orf80_uc001ojh.2_Missense_Mutation_p.L419I|C11orf80_uc001oji.2_Missense_Mutation_p.L419I|C11orf80_uc010rpl.1_Missense_Mutation_p.L285I|C11orf80_uc001ojj.2_Missense_Mutation_p.L249I|RCE1_uc001ojk.1_5'Flank|RCE1_uc001ojl.1_5'Flank	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN	hypothetical protein LOC79703	496											0						CAGGGCGAGCCTCGGAAGCCG	0.766												
NDUFV1	4723	broad.mit.edu	37	11	67377024	67377024	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:67377024T>G	uc001omj.2	+	4	581	c.428T>G	c.(427-429)CTG>CGG	p.L143R	NDUFV1_uc010rpv.1_Missense_Mutation_p.L42R|NDUFV1_uc001oml.2_Missense_Mutation_p.L136R|NDUFV1_uc001omk.3_Missense_Mutation_p.L134R|NDUFV1_uc009yrz.1_Missense_Mutation_p.L42R|NDUFV1_uc010rpw.1_5'Flank	NM_007103	NP_009034	P49821	NDUV1_HUMAN	NADH dehydrogenase ubiquinone flavoprotein 1	143					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)	GAAGGCTGCCTGGTGGGGGGC	0.617												
SUV420H1	51111	broad.mit.edu	37	11	67941281	67941281	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:67941281T>C	uc001onm.1	-	6	899	c.643A>G	c.(643-645)ACA>GCA	p.T215A	SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_Missense_Mutation_p.T43A|SUV420H1_uc009ysf.2_5'UTR|SUV420H1_uc001ono.1_Missense_Mutation_p.T215A|SUV420H1_uc001onp.2_Missense_Mutation_p.T215A|SUV420H1_uc010rqa.1_Missense_Mutation_p.T192A|SUV420H1_uc001onq.2_Missense_Mutation_p.T215A	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	215	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3						CACTCTTTTGTTGCAACTATT	0.303												
CPT1A	1374	broad.mit.edu	37	11	68530165	68530165	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:68530165G>A	uc001oog.3	-	15	1975	c.1805C>T	c.(1804-1806)ACG>ATG	p.T602M	CPT1A_uc001oof.3_Missense_Mutation_p.T602M|CPT1A_uc009ysj.2_Intron	NM_001876	NP_001867	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A liver isoform	602	Cytoplasmic (Potential).	Carnitine (By similarity).			carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			skin(2)	2	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	CACGGTCTCCGTCCTCCCCTC	0.617												
CTTN	2017	broad.mit.edu	37	11	70261793	70261793	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:70261793G>A	uc001opv.3	+	7	633	c.427G>A	c.(427-429)GGG>AGG	p.G143R	CTTN_uc001opu.2_Missense_Mutation_p.G143R|CTTN_uc001opw.3_Missense_Mutation_p.G143R	NM_005231	NP_005222	Q14247	SRC8_HUMAN	cortactin isoform a	143	Cortactin 2.					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TGAATACCAGGGGAAGACTGA	0.512												
INPPL1	3636	broad.mit.edu	37	11	71939260	71939260	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:71939260G>A	uc001osf.2	+	2	356	c.209G>A	c.(208-210)CGC>CAC	p.R70H	INPPL1_uc001osg.2_5'UTR	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	70	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						CACACGTATCGCATTCTGCCT	0.587												
ARHGEF17	9828	broad.mit.edu	37	11	73071483	73071483	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:73071483G>A	uc001otu.2	+	11	4346	c.4325G>A	c.(4324-4326)CGG>CAG	p.R1442Q		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1442					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0						TGCGCCACTCGGCCCGAGGGC	0.622												
ARHGEF17	9828	broad.mit.edu	37	11	73071553	73071553	+	Silent	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:73071553C>A	uc001otu.2	+	11	4416	c.4395C>A	c.(4393-4395)GCC>GCA	p.A1465A		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1465					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0						TTGAACAGGCCTTCGATGAGG	0.602												
MAP6	4135	broad.mit.edu	37	11	75298476	75298476	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:75298476A>G	uc001owu.2	-	4	2135	c.2070T>C	c.(2068-2070)CAT>CAC	p.H690H		NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6 isoform 1	690	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding				0	Ovarian(111;0.11)					GAACCTTTGCATGCTCTGGGA	0.483												
CCDC83	220047	broad.mit.edu	37	11	85593593	85593593	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:85593593G>A	uc001pbh.1	+	4	730	c.218G>A	c.(217-219)CGG>CAG	p.R73Q	CCDC83_uc001pbg.1_Missense_Mutation_p.R73Q|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Missense_Mutation_p.R30Q	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	73	Potential.									skin(1)	1		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TGGCACATACGGCATCTACTA	0.383												
MTNR1B	4544	broad.mit.edu	37	11	92702976	92702976	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:92702976C>T	uc001pdk.1	+	1	188	c.85C>T	c.(85-87)CGG>TGG	p.R29W		NM_005959	NP_005950	P49286	MTR1B_HUMAN	melatonin receptor 1B	29	Extracellular (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	TGGCAGCGCGCGGCCCTCCAG	0.721												
MMP12	4321	broad.mit.edu	37	11	102742539	102742539	+	Missense_Mutation	SNP	C	C	T	rs61730845	by1000genomes	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:102742539C>T	uc001phk.2	-	3	539	c.494G>A	c.(493-495)CGT>CAT	p.R165H		NM_002426	NP_002417	P39900	MMP12_HUMAN	matrix metalloproteinase 12 preproprotein	165					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	CCTACCTCCACGGGCAAAAAC	0.408												
CWF19L2	143884	broad.mit.edu	37	11	107219755	107219755	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:107219755G>A	uc010rvp.1	-	14	2140	c.2110C>T	c.(2110-2112)CGG>TGG	p.R704W	CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control	704							catalytic activity				0		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		GTAAGAGACCGTACGTTGGGT	0.368												
CUL5	8065	broad.mit.edu	37	11	107959318	107959318	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:107959318T>C	uc001pjv.2	+	12	1910	c.1243T>C	c.(1243-1245)TTG>CTG	p.L415L	CUL5_uc001pju.2_RNA	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Vasopressin-activated calcium-mobilizing	415					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			ovary(1)	1		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		CTGTGACATGTTGCTAAGAAA	0.333												
ATM	472	broad.mit.edu	37	11	108201105	108201105	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:108201105G>T	uc001pkb.1	+	50	7857	c.7472G>T	c.(7471-7473)TGG>TTG	p.W2491L	ATM_uc009yxr.1_Missense_Mutation_p.W2491L|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.W1143L|ATM_uc001pkg.1_Missense_Mutation_p.W848L	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2491	FAT.		W -> R (in AT).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGTTCCCTCTGGCTTGAAAAT	0.363			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)		
C11orf52	91894	broad.mit.edu	37	11	111796804	111796804	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:111796804A>C	uc001pmh.2	+	5	736	c.253A>C	c.(253-255)AGC>CGC	p.S85R	C11orf52_uc001pmi.2_Missense_Mutation_p.S85R	NM_080659	NP_542390	Q96A22	CK052_HUMAN	hypothetical protein LOC91894	85										ovary(1)	1		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-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;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		TCAAGTGTGCAGCCGTCCCCA	0.527												
DIXDC1	85458	broad.mit.edu	37	11	111866190	111866190	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:111866190G>A	uc001pml.2	+	17	1888	c.1591G>A	c.(1591-1593)GAT>AAT	p.D531N	DIXDC1_uc001pmm.2_Missense_Mutation_p.D320N|DIXDC1_uc001pmn.2_Missense_Mutation_p.D237N|DIXDC1_uc010rwq.1_Missense_Mutation_p.D196N	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	DIX domain containing 1 isoform a	531					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			ovary(1)	1		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		CAGTGGCCACGATCCTCAGCA	0.542												
ZW10	9183	broad.mit.edu	37	11	113639659	113639659	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:113639659A>G	uc001poe.2	-	2	173	c.136T>C	c.(136-138)TAC>CAC	p.Y46H	ZW10_uc009yyv.2_RNA	NM_004724	NP_004715	O43264	ZW10_HUMAN	centromere/kinetochore protein zw10	46	Interaction with RINT1.|Interaction with ZWINT.|Potential.				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		AATTCACTGTACTTCTTGCTA	0.393												
UBE4A	9354	broad.mit.edu	37	11	118252213	118252213	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:118252213A>G	uc001psw.2	+	12	2113	c.1984A>G	c.(1984-1986)ACC>GCC	p.T662A	UBE4A_uc001psv.2_Missense_Mutation_p.T669A	NM_004788	NP_004779	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	662					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5	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;3.28e-05)		TCACTTTATCACCATTTTCAC	0.418												
PHLDB1	23187	broad.mit.edu	37	11	118516165	118516165	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:118516165C>T	uc001ptr.1	+	17	3566	c.3213C>T	c.(3211-3213)CAC>CAT	p.H1071H	PHLDB1_uc001pts.2_Silent_p.H1071H|PHLDB1_uc001ptt.2_Silent_p.H1024H|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Silent_p.H886H|PHLDB1_uc001ptw.1_Silent_p.H426H|PHLDB1_uc009zai.1_Silent_p.H107H|PHLDB1_uc001ptx.1_Silent_p.H107H|PHLDB1_uc010ryi.1_Silent_p.H214H	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	1071											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)		ATGCCCTTCACGGGGCAGCAC	0.657												
FOXR1	283150	broad.mit.edu	37	11	118849724	118849724	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:118849724C>T	uc001pui.2	+	3	419	c.194C>T	c.(193-195)CCT>CTT	p.P65L	FOXR1_uc001puj.2_RNA|FOXR1_uc001puk.2_5'UTR	NM_181721	NP_859072	Q6PIV2	FOXR1_HUMAN	forkhead box R1	65					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GTGTATCCCCCTGGAAAGCTG	0.547												
HMBS	3145	broad.mit.edu	37	11	118963703	118963703	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:118963703T>C	uc001puz.1	+	13	1041	c.884T>C	c.(883-885)ATG>ACG	p.M295T	HMBS_uc001pvc.1_Missense_Mutation_p.M240T|HMBS_uc009zap.1_Missense_Mutation_p.M278T|HMBS_uc001pva.1_Missense_Mutation_p.M255T|HMBS_uc001pvb.1_Missense_Mutation_p.M264T|HMBS_uc001pvd.1_Missense_Mutation_p.M278T|HMBS_uc001pve.1_Missense_Mutation_p.M238T|HMBS_uc001pvf.1_Missense_Mutation_p.M278T	NM_000190	NP_000181	P08397	HEM3_HUMAN	hydroxymethylbilane synthase isoform 1	295					peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity				0	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CAAGAGACCATGCAGGCTACC	0.522									Porphyria_Acute_Intermittent			
ARHGEF12	23365	broad.mit.edu	37	11	120317769	120317769	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:120317769A>T	uc001pxl.1	+	18	1571	c.1564A>T	c.(1564-1566)ATT>TTT	p.I522F	ARHGEF12_uc009zat.2_Missense_Mutation_p.I503F|ARHGEF12_uc010rzn.1_Missense_Mutation_p.I419F|ARHGEF12_uc009zau.1_Missense_Mutation_p.I419F	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	522	RGSL.				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)		TGCAGAACAGATTGTTGCCAA	0.438			T	MLL	AML							
GRIK4	2900	broad.mit.edu	37	11	120776003	120776003	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:120776003A>C	uc001pxn.2	+	13	1564	c.1277A>C	c.(1276-1278)AAC>ACC	p.N426T	GRIK4_uc009zav.1_Missense_Mutation_p.N426T|GRIK4_uc009zaw.1_Missense_Mutation_p.N426T|GRIK4_uc009zax.1_Missense_Mutation_p.N426T	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	426	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CTGCAGGAGAACCCATATTTA	0.577												
TBCEL	219899	broad.mit.edu	37	11	120929174	120929174	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:120929174T>A	uc009zay.2	+	6	911	c.833T>A	c.(832-834)ATA>AAA	p.I278K	TBCEL_uc001pxo.2_Missense_Mutation_p.I278K|TBCEL_uc001pxp.2_Missense_Mutation_p.I134K|TBCEL_uc001pxq.2_RNA	NM_001130047	NP_001123519	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	278	LRRCT.					cytoplasm|cytoskeleton				skin(1)	1		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		AAATTGGTAATAGCCAGGTCT	0.383												
TECTA	7007	broad.mit.edu	37	11	121000699	121000699	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:121000699G>A	uc010rzo.1	+	9	2720	c.2720G>A	c.(2719-2721)CGA>CAA	p.R907Q		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	907	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AAGTTTTATCGAAGCCGCTCC	0.557												
GRAMD1B	57476	broad.mit.edu	37	11	123483485	123483485	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:123483485C>T	uc001pyx.2	+	14	1836	c.1507C>T	c.(1507-1509)CGC>TGC	p.R503C	GRAMD1B_uc001pyw.2_Missense_Mutation_p.R510C|GRAMD1B_uc010rzw.1_Missense_Mutation_p.R463C|GRAMD1B_uc010rzx.1_Missense_Mutation_p.R463C|GRAMD1B_uc001pyy.2_Missense_Mutation_p.R194C	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	503						integral to membrane				ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CACAGAGCTGCGCTATCGAAA	0.537												
ACRV1	56	broad.mit.edu	37	11	125547803	125547803	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:125547803G>A	uc001qcs.2	-	2	709	c.442C>T	c.(442-444)CAT>TAT	p.H148Y	ACRV1_uc001qck.2_Missense_Mutation_p.H78Y|ACRV1_uc001qcl.2_Missense_Mutation_p.H78Y|ACRV1_uc001qcm.2_Intron|ACRV1_uc001qcn.2_Missense_Mutation_p.H93Y|ACRV1_uc001qco.2_Missense_Mutation_p.H53Y|ACRV1_uc001qcp.2_Intron|ACRV1_uc001qcq.2_Missense_Mutation_p.H78Y|ACRV1_uc001qcr.2_Missense_Mutation_p.H148Y	NM_001612	NP_001603	P26436	ASPX_HUMAN	acrosomal vesicle protein 1 isoform a precursor	148	4 X 4 AA repeats of S-G-E-H.|2-3.|9 X 5 AA repeats of [SV]-G-E-Q-[PSA].				multicellular organismal development	acrosomal vesicle					0	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		CCGGAGCCATGTTCACCTGAA	0.547												
SRPR	6734	broad.mit.edu	37	11	126136701	126136701	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:126136701C>T	uc001qdh.2	-	5	694	c.643G>A	c.(643-645)GAG>AAG	p.E215K	SRPR_uc010sbm.1_Missense_Mutation_p.E187K|FOXRED1_uc001qdi.2_5'Flank|FOXRED1_uc010sbn.1_5'Flank|FOXRED1_uc010sbo.1_5'Flank|FOXRED1_uc010sbp.1_5'Flank|FOXRED1_uc010sbq.1_5'Flank|FOXRED1_uc001qdj.2_5'Flank|FOXRED1_uc010sbr.1_5'Flank	NM_003139	NP_003130	P08240	SRPR_HUMAN	signal recognition particle receptor	215					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding				0	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		ATGAACTCCTCGCGCTTCCTG	0.502												
KIRREL3	84623	broad.mit.edu	37	11	126396494	126396494	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:126396494G>A	uc001qea.2	-	3	583	c.222C>T	c.(220-222)TAC>TAT	p.Y74Y	KIRREL3_uc001qeb.2_Silent_p.Y74Y|KIRREL3_uc001qec.1_Silent_p.Y74Y	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 isoform 1	74	Ig-like C2-type 1.|Extracellular (Potential).				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			ovary(3)	3	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CGAAGCCATCGTATTCGGGGA	0.617												
NCAPD3	23310	broad.mit.edu	37	11	134073985	134073985	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:134073985C>T	uc001qhd.1	-	10	1777	c.1171G>A	c.(1171-1173)GCT>ACT	p.A391T	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	391					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)		ATGAACATAGCGTATTCCCCA	0.423												
THYN1	29087	broad.mit.edu	37	11	134121181	134121181	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:134121181C>T	uc001qhf.2	-	3	167	c.65G>A	c.(64-66)CGC>CAC	p.R22H	THYN1_uc001qhg.2_Missense_Mutation_p.R22H|THYN1_uc001qhh.2_Missense_Mutation_p.R22H|THYN1_uc001qhi.2_Missense_Mutation_p.R22H|THYN1_uc001qhj.2_Missense_Mutation_p.R22H|THYN1_uc009zdb.2_Missense_Mutation_p.R22H|ACAD8_uc009zdc.2_5'Flank|ACAD8_uc010sco.1_5'Flank|ACAD8_uc010scp.1_5'Flank|ACAD8_uc010scq.1_5'Flank|ACAD8_uc001qhk.2_5'Flank|ACAD8_uc001qhl.2_5'Flank	NM_001037305	NP_001032382	Q9P016	THYN1_HUMAN	thymocyte nuclear protein 1 isoform 1	22						nucleus					0	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-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;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		AGTTTTGGTGCGTTTTCCTGA	0.343												
CACNA1C	775	broad.mit.edu	37	12	2786373	2786373	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:2786373G>A	uc009zdu.1	+	42	5399	c.5086G>A	c.(5086-5088)GCG>ACG	p.A1696T	CACNA1C_uc009zdv.1_Missense_Mutation_p.A1645T|CACNA1C_uc001qkb.2_Missense_Mutation_p.A1648T|CACNA1C_uc001qkc.2_Missense_Mutation_p.A1667T|CACNA1C_uc001qke.2_Missense_Mutation_p.A1637T|CACNA1C_uc001qkf.2_Missense_Mutation_p.A1656T|CACNA1C_uc001qjz.2_Missense_Mutation_p.A1648T|CACNA1C_uc001qkd.2_Missense_Mutation_p.A1667T|CACNA1C_uc001qkg.2_Missense_Mutation_p.A1654T|CACNA1C_uc009zdw.1_Missense_Mutation_p.A1689T|CACNA1C_uc001qkh.2_Missense_Mutation_p.A1656T|CACNA1C_uc001qkl.2_Missense_Mutation_p.A1696T|CACNA1C_uc001qkn.2_Missense_Mutation_p.A1648T|CACNA1C_uc001qko.2_Missense_Mutation_p.A1668T|CACNA1C_uc001qkp.2_Missense_Mutation_p.A1648T|CACNA1C_uc001qkr.2_Missense_Mutation_p.A1665T|CACNA1C_uc001qku.2_Missense_Mutation_p.A1648T|CACNA1C_uc001qkq.2_Missense_Mutation_p.A1676T|CACNA1C_uc001qks.2_Missense_Mutation_p.A1648T|CACNA1C_uc001qkt.2_Missense_Mutation_p.A1667T|CACNA1C_uc001qki.1_Missense_Mutation_p.A1384T|CACNA1C_uc001qkj.1_Missense_Mutation_p.A1384T|CACNA1C_uc001qkk.1_Missense_Mutation_p.A1384T|CACNA1C_uc001qkm.1_Missense_Mutation_p.A1373T|CACNA1C_uc010sea.1_Missense_Mutation_p.A339T|uc001qkx.1_RNA|CACNA1C_uc001qky.1_5'Flank	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1696	Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCAGAGGAACGCGCTGTCTCT	0.632												
PRMT8	56341	broad.mit.edu	37	12	3701425	3701425	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:3701425G>A	uc001qmf.2	+	9	1375	c.1008G>A	c.(1006-1008)AAG>AAA	p.K336K	PRMT8_uc009zed.2_Silent_p.K327K|PRMT8_uc001qmg.2_Silent_p.K150K|PRMT8_uc001qmh.2_RNA	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	HMT1 hnRNP methyltransferase-like 4	336					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			ovary(3)|central_nervous_system(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CCCACTGGAAGCAGACCGTCT	0.537												
KCNA5	3741	broad.mit.edu	37	12	5154886	5154886	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:5154886C>T	uc001qni.2	+	1	1802	c.1573C>T	c.(1573-1575)CGG>TGG	p.R525W		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	525						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						CTTCTACCACCGGGAAACGGA	0.637												
CHD4	1108	broad.mit.edu	37	12	6707121	6707121	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:6707121G>A	uc001qpo.2	-	12	1995	c.1831C>T	c.(1831-1833)CGC>TGC	p.R611C	CHD4_uc001qpn.2_Missense_Mutation_p.R604C|CHD4_uc001qpp.2_Missense_Mutation_p.R608C	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	611					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CGATAGAAGCGTTCCTCCATC	0.512												
SLC2A14	144195	broad.mit.edu	37	12	7970451	7970451	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:7970451G>A	uc001qtk.2	-	15	2113	c.1320C>T	c.(1318-1320)GTC>GTT	p.V440V	SLC2A14_uc001qtl.2_Silent_p.V417V|SLC2A14_uc001qtm.2_Silent_p.V417V|SLC2A14_uc010sgg.1_Silent_p.V331V|SLC2A14_uc001qtn.2_Silent_p.V440V|SLC2A14_uc001qto.2_Silent_p.V75V|SLC2A14_uc010sgh.1_Silent_p.V455V	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	glucose transporter 14	440	Helical; Name=11; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			ovary(1)	1				Kidney(36;0.0883)		AGAGCAATCCGACTAGGAAGT	0.413												
CLEC1A	51267	broad.mit.edu	37	12	10224068	10224068	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:10224068C>T	uc001qxb.2	-	6	791	c.707G>A	c.(706-708)TGT>TAT	p.C236Y	CLEC1A_uc009zhf.2_Missense_Mutation_p.C148Y|CLEC1A_uc001qxc.2_Missense_Mutation_p.C148Y|CLEC1A_uc001qxd.2_Missense_Mutation_p.C193Y|CLEC1A_uc010sgx.1_Missense_Mutation_p.C134Y	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	C-type lectin-like receptor-1	236	C-type lectin.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2						GATGGCCACACAGTCTCTGCT	0.398												
GPR19	2842	broad.mit.edu	37	12	12815196	12815196	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:12815196C>T	uc001rar.3	-	2	380	c.187G>A	c.(187-189)GGG>AGG	p.G63R	GPR19_uc001raq.2_Missense_Mutation_p.G63R	NM_006143	NP_006134	Q15760	GPR19_HUMAN	G protein-coupled receptor 19	63	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		GCCACTTCCCCGGGTTTCAGC	0.488												
KIAA1467	57613	broad.mit.edu	37	12	13232857	13232857	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:13232857C>T	uc001rbi.2	+	12	1800	c.1777C>T	c.(1777-1779)CAG>TAG	p.Q593*	KIAA1467_uc009zhx.1_RNA	NM_020853	NP_065904	A2RU67	K1467_HUMAN	hypothetical protein LOC57613	593						integral to membrane				central_nervous_system(2)|skin(1)	3		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CCAGATGGCTCAGCTACAGGA	0.562												
GOLT1B	51026	broad.mit.edu	37	12	21665245	21665245	+	Missense_Mutation	SNP	G	G	A	rs34378602	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:21665245G>A	uc001rez.2	+	4	472	c.313G>A	c.(313-315)GTT>ATT	p.V105I	GOLT1B_uc009zis.2_RNA|GOLT1B_uc009zit.2_RNA|GOLT1B_uc009ziu.2_RNA	NM_016072	NP_057156	Q9Y3E0	GOT1B_HUMAN	golgi transport 1 homolog B	105	Phe-rich.|Helical; Name=4; (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport	endoplasmic reticulum|Golgi membrane|integral to membrane	signal transducer activity				0						CTTTCCTGTCGTTGTTGGCTT	0.343												
SOX5	6660	broad.mit.edu	37	12	23999035	23999035	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:23999035G>A	uc001rfw.2	-	3	465	c.363C>T	c.(361-363)GGC>GGT	p.G121G	SOX5_uc001rfx.2_Silent_p.G108G|SOX5_uc001rfy.2_Silent_p.G108G|SOX5_uc010siv.1_Silent_p.G108G|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Silent_p.G73G|SOX5_uc001rga.2_Silent_p.G86G	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	121					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(5)|lung(1)	6						ACAAGGACTCGCCACTCTGTC	0.493												
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:25398284C>T	uc001rgp.1	-	2	216	c.35G>A	c.(34-36)GGT>GAT	p.G12D	KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)		
IPO8	10526	broad.mit.edu	37	12	30792613	30792613	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:30792613A>G	uc001rjd.2	-	21	2495	c.2325T>C	c.(2323-2325)ACT>ACC	p.T775T	IPO8_uc001rje.1_Silent_p.T264T|IPO8_uc010sjt.1_Silent_p.T570T	NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8	775					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GAAGCTCACTAGTTTTGACCC	0.433												
IPO8	10526	broad.mit.edu	37	12	30826944	30826944	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:30826944A>G	uc001rjd.2	-	8	1059	c.889T>C	c.(889-891)TAT>CAT	p.Y297H	IPO8_uc010sjt.1_Missense_Mutation_p.Y92H	NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8	297					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCCACTGCATAGGTTTTCAAA	0.323												
FAM113B	91523	broad.mit.edu	37	12	47629940	47629940	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:47629940C>T	uc001rpn.2	+	4	1825	c.1094C>T	c.(1093-1095)GCA>GTA	p.A365V	FAM113B_uc001rpq.2_Missense_Mutation_p.A365V	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	hypothetical protein LOC91523	365	Pro-rich.						hydrolase activity			skin(3)|ovary(2)	5	Renal(347;0.138)|Lung SC(27;0.192)					TCAGCCCATGCAGGTTTCTTC	0.532												
ZNF641	121274	broad.mit.edu	37	12	48737243	48737243	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:48737243G>A	uc001rrn.1	-	6	995	c.830C>T	c.(829-831)TCC>TTC	p.S277F	ZNF641_uc001rro.1_Missense_Mutation_p.S263F|ZNF641_uc010sls.1_Missense_Mutation_p.S254F	NM_152320	NP_689533	Q96N77	ZN641_HUMAN	zinc finger protein 641	277	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2						GGCAAGGTGGGAACCCCATAC	0.522												
ADCY6	112	broad.mit.edu	37	12	49165623	49165623	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:49165623G>A	uc001rsh.3	-	18	3581	c.2921C>T	c.(2920-2922)TCG>TTG	p.S974L	ADCY6_uc001rsj.3_Missense_Mutation_p.S974L|ADCY6_uc001rsi.3_Missense_Mutation_p.S921L|ADCY6_uc010slw.1_Missense_Mutation_p.S205L	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	974	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding				0						ACACTCACACGACTGATAGTA	0.562												
WNT10B	7480	broad.mit.edu	37	12	49361903	49361903	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:49361903G>A	uc001rss.2	-	4	883	c.537C>T	c.(535-537)AGC>AGT	p.S179S	WNT10B_uc001rst.2_Intron	NM_003394	NP_003385	O00744	WN10B_HUMAN	wingless-type MMTV integration site family,	179					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			skin(4)|lung(3)	7						cagggccagggctgggCAGAG	0.473												
MLL2	8085	broad.mit.edu	37	12	49425776	49425776	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:49425776G>A	uc001rta.3	-	39	12712	c.12712C>T	c.(12712-12714)CGC>TGC	p.R4238C		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4238	Gln-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.R3968C(1)		kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GGGGTCTGGCGTACTGCCTGA	0.642			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
KCNH3	23416	broad.mit.edu	37	12	49948156	49948156	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:49948156G>A	uc001ruh.1	+	11	2215	c.1955G>A	c.(1954-1956)CGG>CAG	p.R652Q	KCNH3_uc010smj.1_Missense_Mutation_p.R592Q	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	652	cNMP.|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						CTGCCCCGGCGGGAGCAGGTG	0.637												
GPD1	2819	broad.mit.edu	37	12	50498451	50498451	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:50498451G>T	uc001rvz.2	+	2	169	c.136G>T	c.(136-138)GGA>TGA	p.G46*	GPD1_uc010smp.1_Nonsense_Mutation_p.G46*|GPD1_uc001rwa.2_Nonsense_Mutation_p.G46*	NM_005276	NP_005267	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	46					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity				0					NADH(DB00157)	GGAAGACATTGGAGGCAAAAA	0.552												
LETMD1	25875	broad.mit.edu	37	12	51450008	51450008	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:51450008C>T	uc001rxm.2	+	6	798	c.742C>T	c.(742-744)CAA>TAA	p.Q248*	LETMD1_uc010smz.1_Nonsense_Mutation_p.Q198*|LETMD1_uc010sna.1_Intron|LETMD1_uc001rxl.2_Nonsense_Mutation_p.Q192*|LETMD1_uc009zlv.2_Intron|LETMD1_uc001rxs.2_Intron|LETMD1_uc009zlw.2_Nonsense_Mutation_p.Q261*|LETMD1_uc001rxn.2_Nonsense_Mutation_p.Q91*|LETMD1_uc001rxo.2_RNA|LETMD1_uc001rxp.2_Nonsense_Mutation_p.Q131*|LETMD1_uc001rxq.2_Intron|LETMD1_uc001rxr.2_Intron|LETMD1_uc001rxt.2_Intron	NM_015416	NP_056231	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1 isoform 1	248	Mitochondrial intermembrane (Potential).|LETM1.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)	2						GGGCATGAACCAACTCCAGGC	0.468												
CSRNP2	81566	broad.mit.edu	37	12	51461489	51461489	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:51461489C>T	uc001rxu.1	-	4	973	c.675G>A	c.(673-675)GCG>GCA	p.A225A		NM_030809	NP_110436	Q9H175	CSRN2_HUMAN	TGF-beta induced apoptosis protein 12	225	Cys-rich.				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						TGCAGGCACACGCTTCTGGGT	0.547												
CSRNP2	81566	broad.mit.edu	37	12	51470194	51470194	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:51470194G>A	uc001rxu.1	-	2	449	c.151C>T	c.(151-153)CCC>TCC	p.P51S		NM_030809	NP_110436	Q9H175	CSRN2_HUMAN	TGF-beta induced apoptosis protein 12	51					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						GCTTACTCACGTGTGAAGCTG	0.552												
DAZAP2	9802	broad.mit.edu	37	12	51634184	51634184	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:51634184C>A	uc010snd.1	+	2	255	c.71C>A	c.(70-72)CCT>CAT	p.P24H	DAZAP2_uc001ryb.2_Missense_Mutation_p.P24H|DAZAP2_uc010snc.1_Missense_Mutation_p.P24H|DAZAP2_uc010sne.1_Missense_Mutation_p.P24H|DAZAP2_uc010snf.1_Missense_Mutation_p.P24H	NM_001136266	NP_001129738	Q15038	DAZP2_HUMAN	DAZ associated protein 2 isoform c	24	Pro-rich.						WW domain binding				0						CCAGTATACCCTCAGACCTTG	0.498												
ACVR1B	91	broad.mit.edu	37	12	52377793	52377793	+	Silent	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:52377793C>A	uc001rzn.2	+	5	864	c.822C>A	c.(820-822)ACC>ACA	p.T274T	ACVR1B_uc001rzl.2_Silent_p.T274T|ACVR1B_uc001rzm.2_Silent_p.T274T|ACVR1B_uc010snn.1_Silent_p.T315T	NM_004302	NP_004293	P36896	ACV1B_HUMAN	activin A receptor, type IB isoform a precursor	274	Protein kinase.|Cytoplasmic (Potential).				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	ATAATGGCACCTGGACACAGC	0.443												
KRT80	144501	broad.mit.edu	37	12	52567501	52567501	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:52567501G>A	uc001rzx.2	-	5	812	c.714C>T	c.(712-714)GTC>GTT	p.V238V	KRT80_uc001rzw.2_Silent_p.V273V|KRT80_uc001rzy.2_Silent_p.V238V	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	keratin 80 isoform a	238	Linker 12.|Rod.					keratin filament	structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.108)		TGTCCATGCCGACGGTCACCG	0.672												
KRT6C	286887	broad.mit.edu	37	12	52867410	52867410	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:52867410C>T	uc001sal.3	-	1	160	c.112G>A	c.(112-114)GTG>ATG	p.V38M		NM_173086	NP_775109	P48668	K2C6C_HUMAN	keratin 6C	38	Head.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GAGCGGGACACGGAGATGCTG	0.657												
KRT79	338785	broad.mit.edu	37	12	53217775	53217775	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:53217775C>G	uc001sbb.2	-	6	1075	c.1042G>C	c.(1042-1044)GCT>CCT	p.A348P	KRT79_uc001sba.2_Missense_Mutation_p.A119P	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	keratin 6L	348	Rod.|Coil 2.					keratin filament	structural molecule activity			ovary(2)|skin(2)	4						TGCTTCCCAGCAGTCACCTGC	0.597												
TENC1	23371	broad.mit.edu	37	12	53457555	53457555	+	Silent	SNP	G	G	A	rs148970226		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:53457555G>A	uc001sbp.2	+	29	4254	c.4119G>A	c.(4117-4119)CCG>CCA	p.P1373P	TENC1_uc001sbl.2_Silent_p.P1249P|TENC1_uc001sbn.2_Silent_p.P1383P|TENC1_uc001sbq.2_Silent_p.P771P|TENC1_uc001sbr.2_RNA|TENC1_uc009zmr.2_Silent_p.P866P|TENC1_uc001sbs.2_Silent_p.P192P	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase	1373					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			ovary(1)|pancreas(1)	2						CCAAGAAGCCGGGAAGCCCCT	0.547												
SOAT2	8435	broad.mit.edu	37	12	53517580	53517580	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:53517580C>T	uc001sbv.2	+	14	1529	c.1441C>T	c.(1441-1443)CTG>TTG	p.L481L	SOAT2_uc009zms.2_RNA	NM_003578	NP_003569	O75908	SOAT2_HUMAN	acyl-CoA:cholesterol acyltransferase 2	481	Helical; (Potential).				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			ovary(1)	1						GTGGACCATGCTGTTTCTAGG	0.577												
ESPL1	9700	broad.mit.edu	37	12	53686104	53686104	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:53686104A>C	uc001sck.2	+	28	5930	c.5839A>C	c.(5839-5841)AGT>CGT	p.S1947R	ESPL1_uc001scj.2_Missense_Mutation_p.S1622R	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1947					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						GGATCCACGAAGTACCTTCTA	0.532												
HNRNPA1	3178	broad.mit.edu	37	12	54676031	54676031	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:54676031G>T	uc001sfl.2	+	4	541	c.437G>T	c.(436-438)AGG>ATG	p.R146M	CBX5_uc001sfk.3_5'Flank|CBX5_uc001sfi.3_5'Flank|HNRNPA1_uc001sfm.2_Missense_Mutation_p.R146M|HNRNPA1_uc009zng.2_Missense_Mutation_p.R146M|HNRNPA1_uc009znh.2_Missense_Mutation_p.R146M|HNRNPA1_uc009zni.2_Missense_Mutation_p.R146M|HNRNPA1_uc001sfn.2_Missense_Mutation_p.R146M|HNRNPA1_uc001sfo.3_RNA|HNRNPA1_uc001sfp.1_Missense_Mutation_p.R101M|HNRNPA1_uc009znj.1_Missense_Mutation_p.R101M	NM_031157	NP_112420	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	146	Globular B domain.|RRM 2.			R -> K (in Ref. 2; CAA29922).	interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			skin(2)|ovary(1)	3						GGCAAGAAAAGGGGCTTTGCC	0.398												
NCKAP1L	3071	broad.mit.edu	37	12	54930016	54930016	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:54930016C>T	uc001sgc.3	+	28	3139	c.3060C>T	c.(3058-3060)AGC>AGT	p.S1020S	NCKAP1L_uc010sox.1_Silent_p.S562S|NCKAP1L_uc010soy.1_Silent_p.S970S	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1020					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						CCTTTTATAGCATTGAGAAGG	0.468												
SUOX	6821	broad.mit.edu	37	12	56397718	56397718	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:56397718G>A	uc001six.2	+	6	871	c.545G>A	c.(544-546)CGT>CAT	p.R182H	SUOX_uc001siy.2_Missense_Mutation_p.R182H|SUOX_uc001siz.2_Missense_Mutation_p.R182H|SUOX_uc001sja.2_Missense_Mutation_p.R182H	NM_000456	NP_000447	P51687	SUOX_HUMAN	sulfite oxidase precursor	182	Molybdenum-pterin domain (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity				0			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			GATCCTGTACGTCACCCAGCC	0.542												
SMARCC2	6601	broad.mit.edu	37	12	56579984	56579984	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:56579984C>A	uc001skb.2	-	3	378	c.272G>T	c.(271-273)TGC>TTC	p.C91F	SMARCC2_uc001skd.2_Missense_Mutation_p.C91F|SMARCC2_uc001ska.2_Missense_Mutation_p.C91F|SMARCC2_uc001skc.2_Missense_Mutation_p.C91F|SMARCC2_uc010sqf.1_5'UTR	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	91					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)			AAGAATGTGGCACAAGGAGCC	0.398												
CS	1431	broad.mit.edu	37	12	56669893	56669893	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:56669893G>A	uc001sks.1	-	7	865	c.675C>T	c.(673-675)AGC>AGT	p.S225S	CS_uc010sql.1_Silent_p.S212S|CS_uc001skr.1_Silent_p.S159S|CS_uc001skt.1_Silent_p.S180S|CS_uc010sqm.1_Silent_p.S159S	NM_004077	NP_004068	O75390	CISY_HUMAN	citrate synthase precursor	225					cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity				0		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		CCCCAATACCGCTGCCTTCTC	0.458												
PAN2	9924	broad.mit.edu	37	12	56716264	56716264	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:56716264G>A	uc001skx.2	-	19	3025	c.2652C>T	c.(2650-2652)GGC>GGT	p.G884G	PAN2_uc001skw.2_Silent_p.G32G|PAN2_uc001skz.2_Silent_p.G883G|PAN2_uc001sky.2_Silent_p.G880G	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	884					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						GGTGAGTAACGCCCTATGGAA	0.433												
PAN2	9924	broad.mit.edu	37	12	56718366	56718366	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:56718366T>C	uc001skx.2	-	11	2100	c.1727A>G	c.(1726-1728)CAG>CGG	p.Q576R	PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Missense_Mutation_p.Q576R|PAN2_uc001sky.2_Missense_Mutation_p.Q576R	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	576					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						AGTACTGACCTGGCAAGGGTC	0.463												
NACA	4666	broad.mit.edu	37	12	57107321	57107321	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:57107321C>T	uc001slz.2	-	5	730	c.381G>A	c.(379-381)AAG>AAA	p.K127K	NACA_uc001sly.2_Silent_p.K127K|NACA_uc009zoy.1_Silent_p.K1990K|NACA_uc001smc.2_Silent_p.K127K|NACA_uc001sma.2_Silent_p.K837K|NACA_uc001smb.2_Silent_p.K127K|NACA_uc010squ.1_RNA	NM_001113201	NP_001106672	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha	127	NAC-A/B.				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			ovary(1)	1						GTTTACTCACCTTGGCTTCCC	0.274			T	BCL6	NHL							
KIF5A	3798	broad.mit.edu	37	12	57963455	57963455	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:57963455G>A	uc001sor.1	+	11	1314	c.1106G>A	c.(1105-1107)CGG>CAG	p.R369Q	KIF5A_uc010srr.1_Missense_Mutation_p.R280Q	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	369					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)|skin(1)	3						GAGCTGAGCCGGTGGCGCAAT	0.438												
MARCH9	92979	broad.mit.edu	37	12	58152041	58152041	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:58152041A>T	uc001spx.1	+	3	1076	c.664A>T	c.(664-666)ATC>TTC	p.I222F	MARCH9_uc001spy.2_Missense_Mutation_p.I109F	NM_138396	NP_612405	Q86YJ5	MARH9_HUMAN	membrane-associated RING-CH protein IX	222	Helical; (Potential).					Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding				0	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GCTCTTTCAGATCTGCTACGG	0.532												
LEMD3	23592	broad.mit.edu	37	12	65564751	65564751	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:65564751C>T	uc001ssl.1	+	1	1381	c.1375C>T	c.(1375-1377)CGG>TGG	p.R459W	LEMD3_uc009zqo.1_Missense_Mutation_p.R459W	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	459					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)		GCAATTTAAACGGGAGGAGGT	0.463												
HELB	92797	broad.mit.edu	37	12	66696454	66696454	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:66696454A>G	uc001sti.2	+	1	99	c.71A>G	c.(70-72)GAG>GGG	p.E24G	HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	24					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		CTGGTGGAGGAGGACGACGAC	0.602												
GLIPR1	11010	broad.mit.edu	37	12	75884201	75884201	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:75884201A>G	uc001sxs.2	+	3	584	c.436A>G	c.(436-438)AGT>GGT	p.S146G	GLIPR1_uc009zsb.1_Missense_Mutation_p.I169M	NM_006851	NP_006842	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1 precursor	146					cellular lipid metabolic process	extracellular region|integral to membrane				large_intestine(1)|ovary(1)|skin(1)	3						TTGGGCAGATAGTTACAAAGT	0.388												
MYF5	4617	broad.mit.edu	37	12	81111208	81111208	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:81111208G>A	uc001szg.2	+	1	501	c.366G>A	c.(364-366)GAG>GAA	p.E122E		NM_005593	NP_005584	P13349	MYF5_HUMAN	myogenic factor 5	122	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						CCAAGGTGGAGATCCTCAGGA	0.592												
PPFIA2	8499	broad.mit.edu	37	12	81741514	81741514	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:81741514C>T	uc001szo.1	-	18	2191	c.2030G>A	c.(2029-2031)CGT>CAT	p.R677H	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	603										ovary(3)|lung(2)|pancreas(1)	6						TTCTTCAGCACGCAACTCTGT	0.398												
EEA1	8411	broad.mit.edu	37	12	93192691	93192691	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:93192691G>A	uc001tck.2	-	21	3209	c.2944C>T	c.(2944-2946)CTT>TTT	p.L982F		NM_003566	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1, 162kD	982	Gln/Glu/Lys-rich.|Potential.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			ovary(2)|skin(1)	3						GCAATTTTAAGCTCTCCTTGG	0.303												
CCDC41	51134	broad.mit.edu	37	12	94806263	94806263	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:94806263C>T	uc001tdd.2	-	3	590	c.4G>A	c.(4-6)GTT>ATT	p.V2I	CCDC41_uc001tde.2_Missense_Mutation_p.V2I|CCDC41_uc009zsw.1_Intron|CCDC41_uc001tdf.2_Missense_Mutation_p.V2I	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	NY-REN-58 antigen	Error:Variant_position_missing_in_Q9Y592_after_alignment											0						GTGCTGACAACCATGTAAAAA	0.398												
FGD6	55785	broad.mit.edu	37	12	95604120	95604120	+	Missense_Mutation	SNP	T	T	C	rs74379313		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:95604120T>C	uc001tdp.3	-	2	1164	c.940A>G	c.(940-942)ACT>GCT	p.T314A	FGD6_uc009zsx.2_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	314					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|breast(1)	3						GGCTTGGGAGTTGGAAATTTT	0.413												
C12orf63	374467	broad.mit.edu	37	12	97043775	97043775	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:97043775A>C	uc001tet.1	+	2	150	c.72A>C	c.(70-72)AAA>AAC	p.K24N		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	24										skin(6)|ovary(1)	7						CTAGTGCTAAAGAAAAGGACC	0.333												
SLC5A8	160728	broad.mit.edu	37	12	101555808	101555808	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:101555808C>T	uc001thz.3	-	13	1964	c.1574G>A	c.(1573-1575)AGC>AAC	p.S525N		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	solute carrier family 5 (iodide transporter),	525	Helical; (Potential).				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity				0						TCCAACAGTGCTGAAGTACAG	0.348												
SART3	9733	broad.mit.edu	37	12	108918245	108918245	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:108918245C>T	uc001tmz.1	-	18	2797	c.2562G>A	c.(2560-2562)GCG>GCA	p.A854A	SART3_uc001tmy.1_Silent_p.A380A|SART3_uc009zux.1_Silent_p.A466A|SART3_uc010swx.1_Silent_p.A818A	NM_014706	NP_055521	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T	854	RRM 2.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			pancreas(1)	1						CAGCCTGCGACGCCTGGGATT	0.532									Porokeratosis			
CUX2	23316	broad.mit.edu	37	12	111652089	111652089	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:111652089G>A	uc001tsa.1	+	2	302	c.149G>A	c.(148-150)CGG>CAG	p.R50Q	CUX2_uc001tsb.1_Missense_Mutation_p.R105Q	NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	50						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						GAACTCCGCCGGGAATTTAAG	0.378												
C12orf51	283450	broad.mit.edu	37	12	112711506	112711506	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:112711506T>G	uc009zwc.2	-	4	617	c.599A>C	c.(598-600)TAT>TCT	p.Y200S	C12orf51_uc010syk.1_Missense_Mutation_p.Y23S|C12orf51_uc001tts.2_Missense_Mutation_p.Y23S|C12orf51_uc001ttt.3_Missense_Mutation_p.Y23S	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						CTGGCAGACATAATGGAAGGC	0.453												
RASAL1	8437	broad.mit.edu	37	12	113553825	113553825	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:113553825G>A	uc001tum.1	-	10	1056	c.763C>T	c.(763-765)CGC>TGC	p.R255C	RASAL1_uc010syp.1_Missense_Mutation_p.R255C|RASAL1_uc001tul.2_Missense_Mutation_p.R255C|RASAL1_uc001tun.1_Missense_Mutation_p.R255C|RASAL1_uc010syq.1_Missense_Mutation_p.R255C|RASAL1_uc001tuo.3_Missense_Mutation_p.R255C|RASAL1_uc010syr.1_Missense_Mutation_p.R255C	NM_004658	NP_004649	O95294	RASL1_HUMAN	RAS protein activator like 1	255					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			ovary(2)|skin(2)	4						TCAATCAGGCGTACCTTCACT	0.493												
LHX5	64211	broad.mit.edu	37	12	113907132	113907132	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:113907132G>A	uc001tvj.1	-	2	766	c.192C>T	c.(190-192)TGC>TGT	p.C64C		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	LIM homeobox protein 5	64	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CGCAGCCGGCGCATTTCGTGC	0.617												
FBXW8	26259	broad.mit.edu	37	12	117365934	117365934	+	Splice_Site	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:117365934T>C	uc001twg.1	+	2	505	c.423_splice	c.e2+2	p.Q141_splice	FBXW8_uc001twf.1_Splice_Site_p.Q75_splice|FBXW8_uc009zwp.1_Splice_Site	NM_153348	NP_699179	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8 isoform								protein binding			ovary(2)|pancreas(1)	3	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		TGTGCACAGGTAAGGTGTCAC	0.373												
SRRM4	84530	broad.mit.edu	37	12	119563220	119563220	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:119563220C>T	uc001txa.1	+	7	842	c.550C>T	c.(550-552)CGC>TGC	p.R184C		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	184	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2						TCACCGCCACCGCCATCACCG	0.478												
HSPB8	26353	broad.mit.edu	37	12	119617314	119617314	+	Missense_Mutation	SNP	C	C	T	rs140173724		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:119617314C>T	uc001txb.2	+	1	720	c.197C>T	c.(196-198)TCG>TTG	p.S66L	HSPB8_uc001txc.2_Missense_Mutation_p.S66L	NM_014365	NP_055180	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	66					cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|skin(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCCTAAGGTCGGGCATGGTG	0.687												
GCN1L1	10985	broad.mit.edu	37	12	120569133	120569133	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:120569133G>A	uc001txo.2	-	55	7432	c.7419C>T	c.(7417-7419)GAC>GAT	p.D2473D		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	2473					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGCCGGACACGTCCGCTGGGT	0.612												
GCN1L1	10985	broad.mit.edu	37	12	120597681	120597681	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:120597681G>A	uc001txo.2	-	24	2710	c.2697C>T	c.(2695-2697)AAC>AAT	p.N899N		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	899					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACAAGAAGGGGTTCTTGATCC	0.587												
GCN1L1	10985	broad.mit.edu	37	12	120615500	120615500	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:120615500G>A	uc001txo.2	-	8	729	c.716C>T	c.(715-717)CCG>CTG	p.P239L		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	239					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGGTACTTCGGAGGCTTGAC	0.463												
CAMKK2	10645	broad.mit.edu	37	12	121678602	121678602	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:121678602A>G	uc001tzu.2	-	17	1791	c.1667T>C	c.(1666-1668)GTG>GCG	p.V556A	CAMKK2_uc001tzt.2_Nonstop_Mutation_p.*542R|CAMKK2_uc001tzv.2_Missense_Mutation_p.V556A|CAMKK2_uc001tzw.2_Missense_Mutation_p.V513A|CAMKK2_uc001tzx.2_Nonstop_Mutation_p.*542R|CAMKK2_uc001tzy.2_Nonstop_Mutation_p.*499R|CAMKK2_uc001tzz.1_Intron|CAMKK2_uc001uaa.1_Intron	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase	556					calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			lung(1)|large_intestine(1)|stomach(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACTGCCTCTCACAAGAGCACT	0.657												
KDM2B	84678	broad.mit.edu	37	12	122018691	122018691	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:122018691C>A	uc001uat.2	-	1	230	c.126G>T	c.(124-126)CAG>CAT	p.Q42H	KDM2B_uc001uas.2_5'Flank|KDM2B_uc001uau.2_5'UTR|KDM2B_uc001uav.3_Missense_Mutation_p.Q42H	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	42					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2						CCAACATTACCTGTGTGGCCG	0.507												
LRRC43	254050	broad.mit.edu	37	12	122684777	122684777	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:122684777T>G	uc009zxm.2	+	8	1416	c.1391T>G	c.(1390-1392)GTC>GGC	p.V464G	LRRC43_uc001ubw.3_Missense_Mutation_p.V279G|LRRC43_uc009zxn.2_Missense_Mutation_p.V225G	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43 isoform 1	464											0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TGGGCTGAGGTCATCCCCTGC	0.647												
PITPNM2	57605	broad.mit.edu	37	12	123471271	123471271	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:123471271G>A	uc001uej.1	-	23	3658	c.3519C>T	c.(3517-3519)GGC>GGT	p.G1173G	PITPNM2_uc001uek.1_Silent_p.G1167G	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein,	1173					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		AGGACACCACGCCATGGGGGA	0.667												
CDK2AP1	8099	broad.mit.edu	37	12	123749783	123749783	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:123749783C>T	uc001ueq.2	-	3	762	c.240G>A	c.(238-240)ACG>ACA	p.T80T	CDK2AP1_uc001uep.2_RNA	NM_004642	NP_004633	O14519	CDKA1_HUMAN	CDK2-associated protein  1	80					DNA-dependent DNA replication|protein phosphorylation|S phase of mitotic cell cycle	cytoplasm|nucleus	DNA binding|protein binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000554)|Epithelial(86;0.00178)		TCCCTGCGTACGTGGGTCTGA	0.582												
DNAH10	196385	broad.mit.edu	37	12	124270304	124270304	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:124270304C>T	uc001uft.3	+	9	1084	c.1059C>T	c.(1057-1059)CAC>CAT	p.H353H		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	353	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACATAACGCACGGGTCTGGCT	0.527												
GPR133	283383	broad.mit.edu	37	12	131471729	131471729	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:131471729A>G	uc001uit.3	+	6	1139	c.580A>G	c.(580-582)AGT>GGT	p.S194G	GPR133_uc010tbm.1_Missense_Mutation_p.S226G	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133 precursor	194	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)		CTCTGATCCGAGTGGAAAAGT	0.512												
MMP17	4326	broad.mit.edu	37	12	132325164	132325164	+	Missense_Mutation	SNP	C	C	T	rs146831311		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:132325164C>T	uc001ujc.1	+	4	568	c.469C>T	c.(469-471)CGT>TGT	p.R157C	MMP17_uc001ujd.1_Missense_Mutation_p.R73C	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	matrix metalloproteinase 17 preproprotein	157					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CGACACGGTGCGTGCACTCAT	0.652												
EFHA1	221154	broad.mit.edu	37	13	22084194	22084194	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:22084194C>T	uc001uof.2	-	8	732	c.710G>A	c.(709-711)CGT>CAT	p.R237H	EFHA1_uc010tct.1_Missense_Mutation_p.R27H	NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN	EF-hand domain family, member A1	237	EF-hand 2.						calcium ion binding				0		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)		TCCAAAGAAACGCATCTGAAG	0.229												
SACS	26278	broad.mit.edu	37	13	23905259	23905259	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:23905259A>G	uc001uon.2	-	10	13345	c.12756T>C	c.(12754-12756)TCT>TCC	p.S4252S	SACS_uc001uoo.2_Silent_p.S4105S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	4252					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.T4252S(1)		ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCCTGCTTTGAGAGCTTTCCT	0.433												
SACS	26278	broad.mit.edu	37	13	23928962	23928962	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:23928962A>C	uc001uon.2	-	8	2378	c.1789T>G	c.(1789-1791)TCA>GCA	p.S597A	SACS_uc001uoo.2_Missense_Mutation_p.S450A|SACS_uc001uop.1_Missense_Mutation_p.S384A|SACS_uc001uoq.1_Missense_Mutation_p.S450A	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	597					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGCTTCCCTGAGCTCTGGAGG	0.502												
PARP4	143	broad.mit.edu	37	13	25067820	25067820	+	Missense_Mutation	SNP	C	C	T	rs113456081		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:25067820C>T	uc001upl.2	-	8	899	c.793G>A	c.(793-795)GAT>AAT	p.D265N	PARP4_uc010tdc.1_Missense_Mutation_p.D265N	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	265	PARP alpha-helical.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)|skin(1)	4		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TCTACTAAATCGCTCACCTCT	0.443												
WASF3	10810	broad.mit.edu	37	13	27257105	27257105	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:27257105C>T	uc001uqv.2	+	9	1570	c.1345C>T	c.(1345-1347)CGA>TGA	p.R449*	WASF3_uc001uqw.2_Nonsense_Mutation_p.R446*	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	449	WH2.				actin filament polymerization	cytoplasm|cytoskeleton	actin binding			pancreas(1)	1	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CGCTGCTATTCGAATGGGTAA	0.567												
NBEA	26960	broad.mit.edu	37	13	35733851	35733851	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:35733851T>C	uc001uvb.2	+	23	3749	c.3543T>C	c.(3541-3543)AGT>AGC	p.S1181S	NBEA_uc010abi.2_5'Flank	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	1181						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTGGTGTTAGTGATGATCTTG	0.358												
MTRF1	9617	broad.mit.edu	37	13	41800599	41800599	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:41800599T>G	uc001uxx.2	-	10	1564	c.1094A>C	c.(1093-1095)AAG>ACG	p.K365T	MTRF1_uc001uxy.2_Missense_Mutation_p.K365T|MTRF1_uc001uxz.2_Missense_Mutation_p.K201T|MTRF1_uc010tff.1_Missense_Mutation_p.K378T|uc001uxv.1_Intron	NM_004294	NP_004285	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	365					regulation of translational termination	mitochondrion	translation release factor activity, codon specific				0		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		TTGCTGACGCTTGTCTTTCTC	0.348												
SLC25A30	253512	broad.mit.edu	37	13	45980093	45980093	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:45980093G>A	uc001vag.2	-	4	369	c.232C>T	c.(232-234)CGC>TGC	p.R78C	SLC25A30_uc010tfs.1_Missense_Mutation_p.R3C|SLC25A30_uc001vah.2_Missense_Mutation_p.R3C|SLC25A30_uc010tft.1_Missense_Mutation_p.R27C|SLC25A30_uc001vaf.2_5'Flank	NM_001010875	NP_001010875	Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	78	Helical; Name=2; (Potential).|Solcar 1.				mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding			breast(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		GATGCCTGGCGTAACATCGCG	0.478												
COG3	83548	broad.mit.edu	37	13	46083848	46083848	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:46083848C>A	uc001vak.2	+	15	1717	c.1616C>A	c.(1615-1617)CCT>CAT	p.P539H	COG3_uc001vaj.1_Missense_Mutation_p.P539H|COG3_uc010tfv.1_Missense_Mutation_p.P376H|COG3_uc010aci.2_Missense_Mutation_p.P315H	NM_031431	NP_113619	Q96JB2	COG3_HUMAN	component of golgi transport complex 3	539					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|skin(1)	2		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		TCCCTCAATCCTAGACCACAG	0.383												
PHF11	51131	broad.mit.edu	37	13	50095067	50095067	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:50095067G>A	uc001vdb.2	+	5	833	c.496G>A	c.(496-498)GCT>ACT	p.A166T	PHF11_uc001vdc.2_Missense_Mutation_p.A127T|PHF11_uc001vdd.2_RNA	NM_001040443	NP_001035533	Q9UIL8	PHF11_HUMAN	PHD finger protein 11 isoform a	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding				0		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)		CCCGATCATCGCTCAAAGTGG	0.303												
HNRNPA1L2	144983	broad.mit.edu	37	13	53216743	53216743	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:53216743C>T	uc001vgx.1	+	7	1189	c.116C>T	c.(115-117)ACG>ATG	p.T39M	HNRNPA1L2_uc001vgy.1_Missense_Mutation_p.T39M|HNRNPA1L2_uc001vgz.1_Missense_Mutation_p.T39M	NM_001011724	NP_001011724	Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like	39	Globular A domain.|RRM 1.				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding				0						CAATGGGGAACGCTCACAGAC	0.512												
PCDH17	27253	broad.mit.edu	37	13	58207949	58207949	+	Silent	SNP	G	G	A	rs142073852		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:58207949G>A	uc001vhq.1	+	1	2161	c.1269G>A	c.(1267-1269)ACG>ACA	p.T423T	PCDH17_uc010aec.1_Silent_p.T423T	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	423	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ACTTCTACACGGTGGTGACTG	0.512												
PCDH17	27253	broad.mit.edu	37	13	58208794	58208794	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:58208794C>T	uc001vhq.1	+	1	3006	c.2114C>T	c.(2113-2115)TCG>TTG	p.S705L	PCDH17_uc010aec.1_Missense_Mutation_p.S705L	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	705	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGGGACATGTCGCTGCCGCTC	0.612												
KLF5	688	broad.mit.edu	37	13	73636260	73636260	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:73636260A>G	uc001vje.2	+	2	847	c.523A>G	c.(523-525)ACG>GCG	p.T175A	KLF5_uc001vjd.2_Missense_Mutation_p.T84A	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Kruppel-like factor 5	175					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|pancreas(1)	3		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CCAGAGTGAAACGACTGCCCC	0.532												
TBC1D4	9882	broad.mit.edu	37	13	75873705	75873705	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:75873705T>A	uc001vjl.1	-	17	3264	c.2917A>T	c.(2917-2919)ACG>TCG	p.T973S	TBC1D4_uc010tht.1_Missense_Mutation_p.T183S|TBC1D4_uc010thu.1_Missense_Mutation_p.T130S|TBC1D4_uc010aer.2_Missense_Mutation_p.T965S|TBC1D4_uc010aes.2_Missense_Mutation_p.T910S	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	973	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GTAGGAAACGTCCTTCCTGCA	0.433												
TBC1D4	9882	broad.mit.edu	37	13	75901921	75901921	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:75901921A>G	uc001vjl.1	-	9	2120	c.1773T>C	c.(1771-1773)AGT>AGC	p.S591S	TBC1D4_uc010aer.2_Silent_p.S591S|TBC1D4_uc010aes.2_Silent_p.S591S	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	591						cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		ACCGTTCAAAACTGTCCACAC	0.378												
SLITRK1	114798	broad.mit.edu	37	13	84454847	84454847	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:84454847G>A	uc001vlk.2	-	1	1682	c.796C>T	c.(796-798)CGA>TGA	p.R266*		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	266	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)		GAATCCACTCGGTTTTTCAAA	0.557												
DNAJC3	5611	broad.mit.edu	37	13	96375615	96375615	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:96375615A>G	uc001vmq.2	+	3	421	c.313A>G	c.(313-315)ACT>GCT	p.T105A	DNAJC3_uc001vmp.2_Missense_Mutation_p.T105A|DNAJC3_uc001vmr.2_Missense_Mutation_p.T105A	NM_006260	NP_006251	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	105	TPR 3.				protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding				0	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			GATGGACTTCACTGCAGTAAG	0.378												
IPO5	3843	broad.mit.edu	37	13	98645415	98645415	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:98645415C>T	uc001vnf.1	+	8	914	c.849C>T	c.(847-849)ATC>ATT	p.I283I	IPO5_uc001vne.2_Silent_p.I301I|IPO5_uc010tik.1_Silent_p.I158I|IPO5_uc010til.1_Silent_p.I223I	NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	283					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3						TTGAAGTGATCGTCACCCTCT	0.378												
RNF113B	140432	broad.mit.edu	37	13	98828582	98828582	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:98828582G>A	uc001vnk.2	-	1	940	c.909C>T	c.(907-909)CCC>CCT	p.P303P	FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	303							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			GTTCTTTGGCGGGGTTAAAGA	0.577												
FARP1	10160	broad.mit.edu	37	13	99092225	99092225	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:99092225G>T	uc001vnj.2	+	22	2780	c.2444G>T	c.(2443-2445)AGC>ATC	p.S815I	FARP1_uc001vnh.2_Missense_Mutation_p.S846I	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF, and pleckstrin domain protein 1	815	PH 1.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			ATTGAGGAGAGCGAAGACGAG	0.617												
DOCK9	23348	broad.mit.edu	37	13	99567684	99567684	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:99567684C>T	uc001vnt.2	-	8	849	c.794G>A	c.(793-795)AGT>AAT	p.S265N	DOCK9_uc001vnw.2_Missense_Mutation_p.S264N|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.S265N|DOCK9_uc010tis.1_Missense_Mutation_p.S264N|DOCK9_uc010tit.1_Missense_Mutation_p.S265N|DOCK9_uc010afu.1_Missense_Mutation_p.S80N	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	265	PH.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTCCACTTCACTGTCTGCTGC	0.403												
ATP11A	23250	broad.mit.edu	37	13	113470405	113470405	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:113470405C>T	uc001vsi.3	+	6	538	c.450C>T	c.(448-450)GAC>GAT	p.D150D	ATP11A_uc001vsj.3_Silent_p.D150D|ATP11A_uc001vsm.1_Silent_p.D26D	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	150	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				AGGTTGGGGACATTGTCATGG	0.567												
TMCO3	55002	broad.mit.edu	37	13	114152698	114152698	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:114152698T>C	uc001vtu.3	+	3	847	c.486T>C	c.(484-486)CAT>CAC	p.H162H	TMCO3_uc001vtt.3_Silent_p.H162H	NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	162	Potential.					integral to membrane	solute:hydrogen antiporter activity				0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			CAGAAAAACATCAAGTTGAAG	0.363												
RASA3	22821	broad.mit.edu	37	13	114780744	114780744	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:114780744G>C	uc001vui.2	-	14	1477	c.1346C>G	c.(1345-1347)CCG>CGG	p.P449R	RASA3_uc010tkk.1_Missense_Mutation_p.P417R|RASA3_uc001vuj.2_Missense_Mutation_p.P66R	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	449	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(3)|skin(1)	4	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CATGACGGTCGGGCAGCTCAC	0.622												
RNASE9	390443	broad.mit.edu	37	14	21024951	21024951	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:21024951T>C	uc010aho.2	-	4	437	c.278A>G	c.(277-279)TAC>TGC	p.Y93C	RNASE9_uc001vxq.3_Missense_Mutation_p.Y98C|RNASE9_uc010ahp.2_Missense_Mutation_p.Y98C|RNASE9_uc010ahq.2_Missense_Mutation_p.Y98C|RNASE9_uc010ahr.2_Missense_Mutation_p.Y98C|RNASE9_uc010ahs.2_Missense_Mutation_p.Y93C|RNASE9_uc010aht.2_Missense_Mutation_p.Y93C|RNASE9_uc010ahu.2_Missense_Mutation_p.Y93C	NM_001110357	NP_001103827	P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	93						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			ovary(2)	2	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		GTGTTTGTAGTAAACATTTTT	0.373												
RNASE11	122651	broad.mit.edu	37	14	21052427	21052427	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:21052427A>G	uc010ahv.2	-	2	392	c.207T>C	c.(205-207)GAT>GAC	p.D69D	RNASE11_uc010ahx.2_Silent_p.D69D|RNASE11_uc010ahw.2_Silent_p.D69D|RNASE11_uc001vxs.2_Silent_p.D69D	NM_145250	NP_660293	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	69						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			ovary(3)	3	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		AAGACATATCATCCTTGGACA	0.388												
RPGRIP1	57096	broad.mit.edu	37	14	21769187	21769187	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:21769187C>A	uc001wag.2	+	3	281	c.281C>A	c.(280-282)GCG>GAG	p.A94E		NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator	94					response to stimulus|visual perception	cilium		p.H94Y(1)		ovary(4)|breast(2)|pancreas(1)	7	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GCGGAGGAGGCGGCGCCGCTC	0.677												
RAB2B	84932	broad.mit.edu	37	14	21944741	21944741	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:21944741G>A	uc010tlt.1	-	2	165	c.64C>T	c.(64-66)CTC>TTC	p.L22F	RAB2B_uc010tls.1_5'UTR|RAB2B_uc001wax.2_5'UTR|RAB2B_uc010ain.2_5'UTR|TOX4_uc001way.2_5'Flank|TOX4_uc001waz.2_5'Flank|TOX4_uc001wba.2_5'Flank|TOX4_uc010tlu.1_5'Flank	NM_032846	NP_116235	Q8WUD1	RAB2B_HUMAN	RAB2B protein isoform 1	22					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|plasma membrane	GTP binding			ovary(1)	1	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		TGCAGGAGGAGACATGACTTC	0.517												
LRP10	26020	broad.mit.edu	37	14	23345962	23345962	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:23345962G>A	uc001whd.2	+	6	2042	c.1489G>A	c.(1489-1491)GGG>AGG	p.G497R	LRP10_uc001whe.2_Missense_Mutation_p.G373R	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein	497	Cytoplasmic (Potential).				endocytosis	coated pit|integral to membrane				central_nervous_system(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CCCTTCCTACGGGCAGCTCAT	0.552												
CDH24	64403	broad.mit.edu	37	14	23522901	23522901	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:23522901G>A	uc001wil.2	-	7	1290	c.1030C>T	c.(1030-1032)CTC>TTC	p.L344F	CDH24_uc010akf.2_Missense_Mutation_p.L344F|CDH24_uc001win.3_Missense_Mutation_p.L344F	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	cadherin-like 24 isoform 1	344	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			central_nervous_system(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GGGTCAATGAGCGTGTTGGTG	0.602												
SLC22A17	51310	broad.mit.edu	37	14	23818480	23818480	+	Splice_Site	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:23818480C>T	uc001wjl.2	-	3	582	c.526_splice	c.e3+1	p.R176_splice	SLC22A17_uc010akk.2_Splice_Site|SLC22A17_uc001wjn.2_Splice_Site|SLC22A17_uc001wjm.2_Splice_Site_p.R176_splice|SLC22A17_uc010akl.1_Missense_Mutation_p.R176H	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17 isoform a						siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity				0	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GTGCCACTTACGCATCAGGTA	0.617												
MYH6	4624	broad.mit.edu	37	14	23871975	23871975	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:23871975G>A	uc001wjv.2	-	11	1000	c.933C>T	c.(931-933)TAC>TAT	p.Y311Y	MYH6_uc010akp.1_Silent_p.Y311Y	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	311	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ACACGAAGGCGTAGTCGTAGG	0.433												
MYH7	4625	broad.mit.edu	37	14	23898464	23898464	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:23898464C>T	uc001wjx.2	-	13	1337	c.1231G>A	c.(1231-1233)GTC>ATC	p.V411I		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	411	Myosin head-like.		V -> I (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)		CCCTTGGTGACGTACTCATTG	0.567												
LRRC16B	90668	broad.mit.edu	37	14	24523312	24523312	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:24523312C>T	uc001wlj.2	+	3	308	c.151C>T	c.(151-153)CGC>TGC	p.R51C		NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	51										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		GACCTCCTGGCGCCTCCACCT	0.617												
LRRC16B	90668	broad.mit.edu	37	14	24532697	24532697	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:24532697G>T	uc001wlj.2	+	31	3091	c.2934G>T	c.(2932-2934)AGG>AGT	p.R978S	LRRC16B_uc001wlk.2_Missense_Mutation_p.R74S	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	978										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		CACAAGGGAGGCCCCGCCCCC	0.597												
LRRC16B	90668	broad.mit.edu	37	14	24537831	24537831	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:24537831A>G	uc001wlj.2	+	37	3878	c.3721A>G	c.(3721-3723)AGC>GGC	p.S1241G	LRRC16B_uc001wlk.2_Missense_Mutation_p.S294G|CPNE6_uc010tnv.1_5'Flank|CPNE6_uc001wlm.2_5'Flank|CPNE6_uc001wll.2_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1241										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		CCAGAGTCCCAGCCCAGCCTC	0.582												
ADCY4	196883	broad.mit.edu	37	14	24791428	24791428	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:24791428A>G	uc001wov.2	-	20	2436	c.2430T>C	c.(2428-2430)AAT>AAC	p.N810N	ADCY4_uc001wow.2_Silent_p.N810N|ADCY4_uc010toh.1_Silent_p.N496N|ADCY4_uc001wox.2_Silent_p.N810N|ADCY4_uc001woy.2_Silent_p.N810N	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	810	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)		AGTAGTACTCATTCTGGGGAG	0.602												
FOXG1	2290	broad.mit.edu	37	14	29237305	29237305	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:29237305C>T	uc001wqe.2	+	1	1019	c.820C>T	c.(820-822)CGG>TGG	p.R274W		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	274	Fork-head.			Missing (in Ref. 1; CAA52240 and 2; CAA55038).	axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|lung(2)	4			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GGGCAAGCTGCGGCGCCGCTC	0.701												
RALGAPA1	253959	broad.mit.edu	37	14	36147154	36147154	+	Splice_Site	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:36147154G>A	uc001wti.2	-	21	3497	c.3106_splice	c.e21+1	p.E1036_splice	RALGAPA1_uc001wtj.2_Splice_Site_p.E1036_splice|RALGAPA1_uc010tpv.1_Splice_Site_p.E1049_splice|RALGAPA1_uc010tpw.1_Splice_Site_p.E1083_splice|RALGAPA1_uc001wtk.1_Silent_p.G934G	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1						activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4						TTGAAATATTGCCTAGATCAT	0.368												
BRMS1L	84312	broad.mit.edu	37	14	36302197	36302197	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:36302197C>T	uc001wtl.2	+	3	373	c.247C>T	c.(247-249)CGA>TGA	p.R83*	BRMS1L_uc010tpx.1_Nonsense_Mutation_p.R35*	NM_032352	NP_115728	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	83	Potential.				regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				skin(1)	1	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		TTATAAAGAACGATTAAGTCA	0.323												
PAX9	5083	broad.mit.edu	37	14	37132240	37132240	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:37132240T>C	uc001wty.3	+	3	860	c.143T>C	c.(142-144)GTC>GCC	p.V48A	PAX9_uc010amq.2_5'Flank	NM_006194	NP_006185	P55771	PAX9_HUMAN	paired box 9	48	Paired.				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		CAGCTACGGGTCTCGCACGGC	0.662												
LRFN5	145581	broad.mit.edu	37	14	42356964	42356964	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:42356964A>G	uc001wvm.2	+	3	2334	c.1136A>G	c.(1135-1137)CAC>CGC	p.H379R	LRFN5_uc010ana.2_Missense_Mutation_p.H379R	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	379	Extracellular (Potential).					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AAGCTCCCTCACTTACTAAAT	0.398										HNSCC(30;0.082)		
KLHL28	54813	broad.mit.edu	37	14	45414264	45414264	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:45414264C>G	uc001wvq.2	-	2	1114	c.868G>C	c.(868-870)GGG>CGG	p.G290R	KLHL28_uc001wvr.2_Missense_Mutation_p.G290R|KLHL28_uc001wvt.3_Missense_Mutation_p.G290R	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	BTB (POZ) domain containing 5	290	Kelch 1.									ovary(1)	1						CCAGATTTCCCTCCTACTGCA	0.403												
FANCM	57697	broad.mit.edu	37	14	45645243	45645243	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:45645243C>T	uc001wwd.3	+	14	3385	c.3286C>T	c.(3286-3288)CCT>TCT	p.P1096S	FANCM_uc010anf.2_Missense_Mutation_p.P1070S|FANCM_uc001wwe.3_Missense_Mutation_p.P632S|FANCM_uc010ang.2_Missense_Mutation_p.P310S	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1096					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						AAATTTAGTACCTAACAATCG	0.348								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
MDGA2	161357	broad.mit.edu	37	14	47342767	47342767	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:47342767C>T	uc001wwj.3	-	14	2610	c.2414G>A	c.(2413-2415)CGA>CAA	p.R805Q	MDGA2_uc001wwh.3_Missense_Mutation_p.R7Q|MDGA2_uc001wwi.3_Missense_Mutation_p.R576Q|MDGA2_uc010ani.2_Missense_Mutation_p.R365Q	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	805	MAM.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6						CAATCTGGGTCGTGATGTCTC	0.378												
ABHD12B	145447	broad.mit.edu	37	14	51355547	51355547	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:51355547C>A	uc001wys.2	+	9	721	c.706C>A	c.(706-708)CCA>ACA	p.P236T	ABHD12B_uc001wyq.2_Missense_Mutation_p.P129T|ABHD12B_uc001wyr.2_Missense_Mutation_p.P159T|ABHD12B_uc010any.2_RNA	NM_181533	NP_853511	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B isoform b	236							hydrolase activity			breast(1)	1	all_epithelial(31;0.00481)|Breast(41;0.148)					TCAAGGATGCCCAGTTGATGC	0.353												
TRIM9	114088	broad.mit.edu	37	14	51561493	51561493	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:51561493G>A	uc001wyx.3	-	1	930	c.165C>T	c.(163-165)TCC>TCT	p.S55S	TRIM9_uc001wyy.2_Silent_p.S55S|TRIM9_uc001wyz.3_Silent_p.S55S	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	55					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					CGGAGACCCCGGAGCCCGCGG	0.642												
WDHD1	11169	broad.mit.edu	37	14	55429711	55429711	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:55429711C>T	uc001xbm.1	-	19	2568	c.2490G>A	c.(2488-2490)GAG>GAA	p.E830E	WDHD1_uc010aom.1_Silent_p.E347E|WDHD1_uc001xbn.1_Silent_p.E707E	NM_007086	NP_009017	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	830	Glu-rich (acidic).					cytoplasm|nucleoplasm	DNA binding			skin(1)	1						cttcttcttcctcttcCACCT	0.333												
PSMA3	5684	broad.mit.edu	37	14	58734211	58734211	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:58734211G>A	uc001xdj.1	+	8	609	c.563G>A	c.(562-564)CGT>CAT	p.R188H	C14orf37_uc010tro.1_Intron|PSMA3_uc001xdk.1_Missense_Mutation_p.R181H|uc001xdl.2_Intron	NM_002788	NP_002779	P25788	PSA3_HUMAN	proteasome alpha 3 subunit isoform 1	188					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity				0						ATGACCTGCCGTGATATCGTT	0.274												
TOMM20L	387990	broad.mit.edu	37	14	58863027	58863027	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:58863027G>A	uc001xdr.1	+	2	180	c.148G>A	c.(148-150)GAG>AAG	p.E50K	TOMM20L_uc010trq.1_RNA	NM_207377	NP_997260	Q6UXN7	TO20L_HUMAN	translocase of outer mitochondrial membrane 20	50	Cytoplasmic (Potential).				protein targeting	integral to membrane|mitochondrial outer membrane translocase complex					0						AAGAAGAGCAGAGCCTCAAAA	0.662												
WDR89	112840	broad.mit.edu	37	14	64066595	64066595	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:64066595C>T	uc001xgh.2	-	3	312	c.66G>A	c.(64-66)GAG>GAA	p.E22E	WDR89_uc001xgi.2_Silent_p.E22E	NM_001008726	NP_001008726	Q96FK6	WDR89_HUMAN	WD repeat domain 89	22	WD 1.										0				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		GGTAAGTGGGCTCTTTGGTTC	0.383												
SYNE2	23224	broad.mit.edu	37	14	64408821	64408821	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:64408821T>G	uc001xgm.2	+	6	598	c.368T>G	c.(367-369)ATT>AGT	p.I123S	SYNE2_uc001xgk.2_Missense_Mutation_p.I123S|SYNE2_uc001xgl.2_Missense_Mutation_p.I123S	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	123	CH 1.|Cytoplasmic (Potential).|Actin-binding.				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)		AACCCATCCATTATCCTTGGC	0.313												
HSPA2	3306	broad.mit.edu	37	14	65008911	65008911	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:65008911C>T	uc001xhj.2	+	2	1420	c.1344C>T	c.(1342-1344)GGC>GGT	p.G448G	HSPA2_uc001xhk.3_Silent_p.G448G	NM_021979	NP_068814	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	448					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			skin(1)	1				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		TATACGAGGGCGAACGGGCCA	0.597												
SIPA1L1	26037	broad.mit.edu	37	14	72152299	72152299	+	Missense_Mutation	SNP	G	G	A	rs113469231		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:72152299G>A	uc001xms.2	+	10	3673	c.3325G>A	c.(3325-3327)GCC>ACC	p.A1109T	SIPA1L1_uc001xmt.2_Missense_Mutation_p.A1109T|SIPA1L1_uc001xmu.2_Missense_Mutation_p.A1109T|SIPA1L1_uc001xmv.2_Missense_Mutation_p.A1109T|SIPA1L1_uc010ttm.1_Missense_Mutation_p.A584T	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1109					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)		AGAAAGAGCCGCCAACATCCC	0.562												
PAPLN	89932	broad.mit.edu	37	14	73730973	73730973	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:73730973C>T	uc010ttx.1	+	20	3079	c.2916C>T	c.(2914-2916)GAC>GAT	p.D972D	PAPLN_uc001xnw.3_Silent_p.D945D|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Silent_p.D956D|PAPLN_uc010arm.2_Silent_p.D171D|PAPLN_uc010arn.2_Silent_p.D172D	NM_173462	NP_775733	O95428	PPN_HUMAN	papilin	972	Ig-like C2-type 1.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		AGGCAGAGGACGCGGGCACCT	0.647												
DLST	1743	broad.mit.edu	37	14	75361105	75361105	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:75361105G>A	uc001xqv.2	+	10	826	c.763G>A	c.(763-765)GAC>AAC	p.D255N	DLST_uc001xqu.2_Missense_Mutation_p.D167N|DLST_uc001xqt.2_Missense_Mutation_p.D171N|DLST_uc010tuw.1_Missense_Mutation_p.D169N|DLST_uc001xqs.2_RNA|DLST_uc010tuv.1_Missense_Mutation_p.D255N	NM_001933	NP_001924	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2	255					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00698)		TAATGAGATTGACATGAGGTA	0.453												
ISM2	145501	broad.mit.edu	37	14	77942332	77942332	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:77942332G>T	uc001xtz.2	-	7	1396	c.1322C>A	c.(1321-1323)CCT>CAT	p.P441H	ISM2_uc001xua.2_3'UTR|ISM2_uc001xty.2_Missense_Mutation_p.P353H|ISM2_uc010tvl.1_Missense_Mutation_p.P360H	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	isthmin 2 homolog isoform 1	441	AMOP.					extracellular region				skin(1)	1						TAGGCTCACAGGGCTGTCCAT	0.647												
NRXN3	9369	broad.mit.edu	37	14	80328033	80328033	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:80328033G>A	uc001xun.2	+	17	3403	c.2912G>A	c.(2911-2913)CGG>CAG	p.R971Q	NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Missense_Mutation_p.R547Q|NRXN3_uc010asw.2_Missense_Mutation_p.R369Q|NRXN3_uc001xur.3_Missense_Mutation_p.R342Q	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	1553	Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GGAATCAGACGGGTTCCGGGG	0.592												
DIO2	1734	broad.mit.edu	37	14	80669184	80669184	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:80669184C>T	uc010tvq.1	-	4	1072	c.670G>A	c.(670-672)GGG>AGG	p.G224R	DIO2_uc010tvp.1_Missense_Mutation_p.G260R|DIO2_uc001xut.2_RNA|DIO2_uc010asx.2_3'UTR|DIO2_uc010tvr.1_Missense_Mutation_p.G224R|DIO2_uc010asy.2_3'UTR	NM_000793	NP_000784	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II isoform a	224					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0281)		AAGGCTACCCCGTAAGCTATG	0.542												
PTPN21	11099	broad.mit.edu	37	14	88946663	88946663	+	Missense_Mutation	SNP	T	T	C	rs141723672		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:88946663T>C	uc001xwv.3	-	13	1443	c.1112A>G	c.(1111-1113)TAC>TGC	p.Y371C	PTPN21_uc010twc.1_Missense_Mutation_p.Y167C	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	371						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						AGAGTGACAGTAGTATCCGTT	0.413												
FOXN3	1112	broad.mit.edu	37	14	89878421	89878421	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:89878421G>A	uc001xxo.3	-	2	537	c.400C>T	c.(400-402)CGC>TGC	p.R134C	FOXN3_uc001xxn.3_Missense_Mutation_p.R134C|FOXN3_uc010atk.2_Missense_Mutation_p.R134C|FOXN3_uc001xxp.2_Missense_Mutation_p.R134C	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	checkpoint suppressor 1 isoform 1	134	Fork-head.				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(2)|ovary(1)	3						ACTGGCAGGCGCTTGGTTGGA	0.488												
SMEK1	55671	broad.mit.edu	37	14	91925133	91925133	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:91925133T>C	uc001xzn.2	-	15	3294	c.2472A>G	c.(2470-2472)CCA>CCG	p.P824P	SMEK1_uc001xzm.2_Silent_p.P811P|SMEK1_uc001xzo.2_Silent_p.P811P|SMEK1_uc010atz.2_Silent_p.P585P	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1	824						microtubule organizing center|nucleus	protein binding				0		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TCTTTGACAATGGTAACGTAT	0.343												
KIAA1409	57578	broad.mit.edu	37	14	94103591	94103591	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:94103591A>G	uc001ybv.1	+	31	5481	c.5398A>G	c.(5398-5400)AAC>GAC	p.N1800D	KIAA1409_uc001ybs.1_Missense_Mutation_p.N1778D	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1955						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)		acgccagtgtaacgtgccaac	0.005												
DICER1	23405	broad.mit.edu	37	14	95562378	95562378	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:95562378C>T	uc001ydw.2	-	24	5061	c.4879G>A	c.(4879-4881)GCC>ACC	p.A1627T	DICER1_uc010avh.1_Missense_Mutation_p.A525T|DICER1_uc001ydv.2_Missense_Mutation_p.A1617T|DICER1_uc001ydx.2_Missense_Mutation_p.A1627T|DICER1_uc001ydy.1_Missense_Mutation_p.A479T	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	1627					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CGTGAACTGGCCACAGAAGCA	0.438			Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_			
CLMN	79789	broad.mit.edu	37	14	95679626	95679626	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:95679626C>T	uc001yef.2	-	6	654	c.538G>A	c.(538-540)GCA>ACA	p.A180T		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	calmin	180	Actin-binding.					integral to membrane	actin binding				0				Epithelial(152;0.193)		ACCGATATTGCCACGCTCCTC	0.577												
SETD3	84193	broad.mit.edu	37	14	99872896	99872896	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:99872896C>T	uc001ygc.2	-	9	1051	c.881G>A	c.(880-882)CGC>CAC	p.R294H		NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	SET domain containing 3 isoform a	294	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity				0		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				ACACTCACAGCGGTCATCTTC	0.522												
WARS	7453	broad.mit.edu	37	14	100801346	100801346	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:100801346C>T	uc001yhf.1	-	10	1366	c.1282G>A	c.(1282-1284)GGT>AGT	p.G428S	WARS_uc001yhe.1_Missense_Mutation_p.G234S|WARS_uc001yhg.1_Missense_Mutation_p.G428S|WARS_uc001yhh.1_Missense_Mutation_p.G428S|WARS_uc001yhi.1_Missense_Mutation_p.G387S|WARS_uc001yhj.1_Missense_Mutation_p.G387S|WARS_uc001yhk.1_Missense_Mutation_p.G387S|WARS_uc001yhl.1_Missense_Mutation_p.G428S	NM_173701	NP_776049	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase isoform a	428					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(1)	1		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TTGAGCTCACCGGTGAGCATG	0.597												
PPP2R5C	5527	broad.mit.edu	37	14	102359431	102359431	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:102359431G>A	uc001yko.2	+	7	924	c.784G>A	c.(784-786)GTC>ATC	p.V262I	PPP2R5C_uc010txr.1_Missense_Mutation_p.V293I|PPP2R5C_uc001ykk.2_Missense_Mutation_p.V317I|PPP2R5C_uc010txt.1_Missense_Mutation_p.V252I|PPP2R5C_uc001ykn.2_Missense_Mutation_p.V262I|PPP2R5C_uc001ykp.2_Missense_Mutation_p.V262I|PPP2R5C_uc001ykq.2_Missense_Mutation_p.V160I	NM_002719	NP_002710	Q13362	2A5G_HUMAN	gamma isoform of regulatory subunit B56, protein	262					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein binding|protein phosphatase type 2A regulator activity|protein phosphatase type 2A regulator activity			ovary(1)|breast(1)	2						ATCTCTGAGTGTCTACCATCC	0.423												
WDR20	91833	broad.mit.edu	37	14	102676020	102676020	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:102676020C>A	uc001ykz.2	+	3	1562	c.1513C>A	c.(1513-1515)CCT>ACT	p.P505T	WDR20_uc001yky.1_Missense_Mutation_p.P248T|WDR20_uc001yla.2_Missense_Mutation_p.P381T|WDR20_uc001ylb.2_Missense_Mutation_p.P444T|WDR20_uc010txu.1_Missense_Mutation_p.P536T|WDR20_uc001ylc.2_Intron|WDR20_uc001yld.2_Missense_Mutation_p.P505T|WDR20_uc001yle.2_Missense_Mutation_p.P444T|WDR20_uc001ylf.2_Missense_Mutation_p.P517T	NM_144574	NP_653175	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20 isoform 2	505											0						CAAAACGGACCCTGCTAAAAC	0.458											OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RAGE	5891	broad.mit.edu	37	14	102717229	102717229	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:102717229C>T	uc001ylm.2	-	7	736	c.510G>A	c.(508-510)CCG>CCA	p.P170P	RAGE_uc010txv.1_Silent_p.P140P|RAGE_uc001yln.2_5'UTR	NM_014226	NP_055041	Q9UQ07	MOK_HUMAN	MAPK/MAK/MRK overlapping kinase	170	Protein kinase.				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						GGAGACACTCCGGGGCCCGGT	0.587												
KIAA0284	283638	broad.mit.edu	37	14	105350360	105350360	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:105350360G>A	uc010axb.2	+	9	1468	c.1244G>A	c.(1243-1245)CGA>CAA	p.R415Q	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.R345Q|KIAA0284_uc001yps.2_Missense_Mutation_p.R321Q	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	415						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		GACACACCCCGAAAGAAGCGC	0.652												
JAG2	3714	broad.mit.edu	37	14	105622217	105622217	+	Silent	SNP	G	G	A	rs139004148		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:105622217G>A	uc001yqg.2	-	4	989	c.585C>T	c.(583-585)CGC>CGT	p.R195R	JAG2_uc001yqh.2_Silent_p.R195R	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	jagged 2 isoform a precursor	195	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)		CGCAGCGCACGCGGATCTGCA	0.622												
BRF1	2972	broad.mit.edu	37	14	105693007	105693007	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:105693007C>T	uc001yqp.2	-	8	1242	c.879G>A	c.(877-879)TCG>TCA	p.S293S	BRF1_uc010tyo.1_Silent_p.S178S|BRF1_uc010typ.1_Silent_p.S178S|BRF1_uc001yql.2_Silent_p.S89S|BRF1_uc001yqo.2_Silent_p.S55S|BRF1_uc010axg.1_Silent_p.S266S|BRF1_uc001yqn.2_RNA|BRF1_uc010axh.1_RNA|BRF1_uc010axj.1_RNA	NM_001519	NP_001510	Q92994	TF3B_HUMAN	transcription initiation factor IIIB isoform 1	293					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		CAGCTGTGTACGAGGGGGGGT	0.582												
CYFIP1	23191	broad.mit.edu	37	15	22928165	22928165	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:22928165A>G	uc001yus.2	+	4	348	c.244A>G	c.(244-246)ATG>GTG	p.M82V	CYFIP1_uc001yut.2_Missense_Mutation_p.M82V|CYFIP1_uc010aya.1_Missense_Mutation_p.M110V	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	82					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ATATGCTGTCATGCTGTACAC	0.612												
MAGEL2	54551	broad.mit.edu	37	15	23889660	23889660	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:23889660A>G	uc001ywj.3	-	1	1516	c.1421T>C	c.(1420-1422)TTG>TCG	p.L474S		NM_019066	NP_061939			MAGE-like protein 2												0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AATTTCTTTCAATTGATAACC	0.418												
NDN	4692	broad.mit.edu	37	15	23932112	23932112	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:23932112C>T	uc001ywk.2	-	1	339	c.253G>A	c.(253-255)GCG>ACG	p.A85T		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	85					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGCTGGGCCGCGCTCGGGGCC	0.741									Prader-Willi_syndrome			
ATP10A	57194	broad.mit.edu	37	15	25971230	25971230	+	Splice_Site	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:25971230C>A	uc010ayu.2	-	5	954	c.848_splice	c.e5-1	p.G283_splice		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A						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)		GTTTCATGTCCTGTCGGGGAG	0.572												
GABRA5	2558	broad.mit.edu	37	15	27160004	27160004	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:27160004G>A	uc001zbd.1	+	8	891	c.552G>A	c.(550-552)GCG>GCA	p.A184A	GABRB3_uc001zbb.2_Intron	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	184	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(1)	1		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CGATGGATGCGCACGCTTGCC	0.438												
HERC2	8924	broad.mit.edu	37	15	28514464	28514464	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:28514464G>A	uc001zbj.2	-	11	1482	c.1376C>T	c.(1375-1377)GCA>GTA	p.A459V	HERC2_uc001zbl.1_Missense_Mutation_p.A154V	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	459					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)		ACGCTTCTCTGCACAGGCAAT	0.522												
TRPM1	4308	broad.mit.edu	37	15	31332410	31332410	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:31332410G>A	uc001zfm.2	-	17	2289	c.2161C>T	c.(2161-2163)CGG>TGG	p.R721W	TRPM1_uc010azy.2_Missense_Mutation_p.R628W|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	721	Cytoplasmic (Potential).		R -> Q (in CSNB1C).		cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ATGAAGTCCCGGTGTTTGGCT	0.557												
RYR3	6263	broad.mit.edu	37	15	34123231	34123231	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:34123231A>T	uc001zhi.2	+	86	11472	c.11402A>T	c.(11401-11403)AAT>ATT	p.N3801I	RYR3_uc010bar.2_Missense_Mutation_p.N3796I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3801					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)		GGACAGCACAATTTTTCCAAA	0.378												
AVEN	57099	broad.mit.edu	37	15	34168182	34168182	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:34168182G>A	uc001zhj.2	-	3	516	c.460C>T	c.(460-462)CAG>TAG	p.Q154*		NM_020371	NP_065104	Q9NQS1	AVEN_HUMAN	cell death regulator aven	154					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			kidney(1)	1		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		AACCGGAACTGTGAGAATGAG	0.408												
AVEN	57099	broad.mit.edu	37	15	34295366	34295366	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:34295366A>G	uc001zhj.2	-	2	368	c.312T>C	c.(310-312)GAT>GAC	p.D104D	CHRM5_uc001zhk.1_Intron	NM_020371	NP_065104	Q9NQS1	AVEN_HUMAN	cell death regulator aven	104					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			kidney(1)	1		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		TTCCCTGTTCATCATTCTCTT	0.383												
ZNF770	54989	broad.mit.edu	37	15	35273567	35273567	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:35273567A>G	uc001ziw.2	-	3	2380	c.2069T>C	c.(2068-2070)GTT>GCT	p.V690A		NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	690					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		AATTTACATAACCGAATCTAA	0.383												
MEIS2	4212	broad.mit.edu	37	15	37388529	37388529	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:37388529G>A	uc001zjr.2	-	3	1385	c.348C>T	c.(346-348)TCC>TCT	p.S116S	MEIS2_uc001zjl.2_Silent_p.S103S|MEIS2_uc010ucj.1_Silent_p.S103S|MEIS2_uc001zjm.2_Silent_p.S28S|MEIS2_uc001zjn.2_Intron|MEIS2_uc001zjo.2_Silent_p.S116S|MEIS2_uc001zjp.2_Silent_p.S116S|MEIS2_uc001zjs.2_Silent_p.S116S|MEIS2_uc001zju.2_Silent_p.S103S|MEIS2_uc001zjt.2_Silent_p.S116S	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Meis homeobox 2 isoform c	116					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)	2		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TGAAGGAGTCGGAGGAGCAGA	0.602												
MEIS2	4212	broad.mit.edu	37	15	37390178	37390178	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:37390178C>T	uc001zjr.2	-	2	1272	c.235G>A	c.(235-237)GCG>ACG	p.A79T	MEIS2_uc001zjl.2_Missense_Mutation_p.A66T|MEIS2_uc010ucj.1_Missense_Mutation_p.A66T|MEIS2_uc001zjm.2_5'UTR|MEIS2_uc001zjn.2_5'UTR|MEIS2_uc001zjo.2_Missense_Mutation_p.A79T|MEIS2_uc001zjp.2_Missense_Mutation_p.A79T|MEIS2_uc001zjs.2_Missense_Mutation_p.A79T|MEIS2_uc001zju.2_Missense_Mutation_p.A66T|MEIS2_uc001zjt.2_Missense_Mutation_p.A79T	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Meis homeobox 2 isoform c	79					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)	2		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CCATAGATCGCGTCCTTGTCC	0.607												
THBS1	7057	broad.mit.edu	37	15	39881276	39881276	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:39881276G>T	uc001zkh.2	+	11	1941	c.1762G>T	c.(1762-1764)GAT>TAT	p.D588Y	THBS1_uc010bbi.2_Missense_Mutation_p.D60Y	NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor	588	EGF-like 2; calcium-binding (Potential).				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			ovary(3)|central_nervous_system(3)	6		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CCAGTGCACAGATGTTGATGA	0.517												
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42126983	42126983	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:42126983C>G	uc001zoo.3	+	2	150	c.110C>G	c.(109-111)ACT>AGT	p.T37S	JMJD7-PLA2G4B_uc010bcm.1_RNA|JMJD7-PLA2G4B_uc001zom.2_Intron|JMJD7-PLA2G4B_uc001zon.2_Missense_Mutation_p.T37S|JMJD7-PLA2G4B_uc010bcn.2_Missense_Mutation_p.T37S|JMJD7-PLA2G4B_uc001zop.1_5'UTR|JMJD7-PLA2G4B_uc001zoq.3_5'Flank	NM_005090	NP_005081	P0C869	PA24B_HUMAN	JMJD7-PLA2G4B protein	Error:Variant_position_missing_in_P0C869_after_alignment					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						AAACCCCCAACTCCGCTCCAC	0.617												
CDAN1	146059	broad.mit.edu	37	15	43020419	43020419	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:43020419C>A	uc001zql.2	-	21	2968	c.2851G>T	c.(2851-2853)GAG>TAG	p.E951*	CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Nonsense_Mutation_p.E277*	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	951						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)		GGGGTCTCCTCTGGAAGCAGC	0.627												
TGM7	116179	broad.mit.edu	37	15	43585733	43585733	+	Missense_Mutation	SNP	C	C	T	rs150218635	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:43585733C>T	uc001zrf.1	-	2	112	c.107G>A	c.(106-108)CGC>CAC	p.R36H		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	transglutaminase 7	36					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)	2		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CTGGCCGCGGCGCACAGTGAG	0.617												
B2M	567	broad.mit.edu	37	15	45003812	45003812	+	Splice_Site	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:45003812G>A	uc001zuc.2	+	1	127	c.67_splice	c.e1+1	p.R23_splice	B2M_uc010uek.1_Splice_Site_p.R23_splice|B2M_uc010bdx.1_Splice_Site_p.R23_splice	NM_004048	NP_004039	P61769	B2MG_HUMAN	beta-2-microglobulin precursor						antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding			ovary(2)|skin(1)	3		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GCTATCCAGCGTGAGTCTCTC	0.617												
DUOX2	50506	broad.mit.edu	37	15	45392026	45392026	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:45392026T>C	uc010bea.2	-	25	3452	c.3249A>G	c.(3247-3249)TCA>TCG	p.S1083S	DUOX2_uc001zun.2_Silent_p.S1083S	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	1083	Interaction with TXNDC11 (By similarity).|Helical; (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|skin(2)|pancreas(1)	5		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CCGTGCCTCGTGACAGGATGA	0.572												
DMXL2	23312	broad.mit.edu	37	15	51773773	51773773	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:51773773G>T	uc002abf.2	-	24	5755	c.5530C>A	c.(5530-5532)CTT>ATT	p.L1844I	DMXL2_uc002abd.2_5'UTR|DMXL2_uc010ufy.1_Missense_Mutation_p.L1844I|DMXL2_uc010bfa.2_Missense_Mutation_p.L1208I	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1844						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		TGAGTTCGAAGGTAGTTATAA	0.348												
KIAA1370	56204	broad.mit.edu	37	15	52897418	52897418	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:52897418A>G	uc002acg.3	-	7	2525	c.2372T>C	c.(2371-2373)GTG>GCG	p.V791A	KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Missense_Mutation_p.V703A|KIAA1370_uc010ugf.1_Missense_Mutation_p.V798A	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	hypothetical protein LOC56204	791											0				all cancers(107;0.0803)		TTTTCGCCACACATTTGAATG	0.333												
WDR72	256764	broad.mit.edu	37	15	53994441	53994441	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:53994441G>T	uc002acj.2	-	12	1501	c.1459C>A	c.(1459-1461)CTG>ATG	p.L487M	WDR72_uc010bfi.1_Missense_Mutation_p.L487M	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	487	WD 6.							p.L487L(1)		lung(1)|skin(1)	2				all cancers(107;0.0511)		CATGAGTCCAGGTCCCCAGAC	0.398												
ZNF280D	54816	broad.mit.edu	37	15	56959098	56959098	+	Silent	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:56959098G>T	uc002adu.2	-	15	1849	c.1632C>A	c.(1630-1632)CTC>CTA	p.L544L	ZNF280D_uc002adv.2_Silent_p.L531L|ZNF280D_uc010bfq.2_Silent_p.L544L|ZNF280D_uc002adw.1_Silent_p.L572L|ZNF280D_uc010bfr.1_RNA|ZNF280D_uc010bfp.2_RNA	NM_017661	NP_060131	Q6N043	Z280D_HUMAN	suppressor of hairy wing homolog 4 isoform 1	544				L -> P (in Ref. 3; BAA90940).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TTGGAGGTGAGAGCTGAAGGG	0.383												
HERC1	8925	broad.mit.edu	37	15	63953190	63953190	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:63953190G>A	uc002amp.2	-	46	9353	c.9205C>T	c.(9205-9207)CAA>TAA	p.Q3069*		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	3069					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						ACACTGTCTTGCTTGCCAATT	0.338												
RBPMS2	348093	broad.mit.edu	37	15	65040633	65040633	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:65040633G>A	uc002anq.2	-	6	804	c.552C>T	c.(550-552)GCC>GCT	p.A184A		NM_194272	NP_919248	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2	184							nucleic acid binding|nucleotide binding				0						CGTGGAGGGCGGCGGCAGCGG	0.637												
UACA	55075	broad.mit.edu	37	15	70960242	70960242	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:70960242C>T	uc002asr.2	-	16	2885	c.2781G>A	c.(2779-2781)GAG>GAA	p.E927E	UACA_uc010uke.1_Silent_p.E818E|UACA_uc002asq.2_Silent_p.E914E|UACA_uc010bin.1_Silent_p.E902E	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and	927	Potential.					cytoskeleton|extracellular region				ovary(2)|pancreas(1)|skin(1)	4						TTGCCTCGTGCTCTGCCAGGC	0.388												
PKM2	5315	broad.mit.edu	37	15	72502688	72502688	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:72502688G>A	uc002atx.1	-	4	619	c.378C>T	c.(376-378)GGC>GGT	p.G126G	PKM2_uc002att.1_5'Flank|PKM2_uc002atu.1_5'Flank|PKM2_uc010bit.1_Silent_p.G131G|PKM2_uc010uki.1_Silent_p.G200G|PKM2_uc002atv.1_Silent_p.G161G|PKM2_uc002atw.1_Silent_p.G126G|PKM2_uc002aty.1_Silent_p.G126G|PKM2_uc010ukj.1_Silent_p.G111G|PKM2_uc010ukk.1_Intron|PKM2_uc010biu.1_Silent_p.G147G|PKM2_uc002atz.1_RNA	NM_182471	NP_872271	P14618	KPYM_HUMAN	pyruvate kinase, muscle isoform M1	126					glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity			breast(1)	1					Pyruvic acid(DB00119)	GAATACTCACGCCCTTGATGA	0.557												
ISLR2	57611	broad.mit.edu	37	15	74425583	74425583	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:74425583C>T	uc002axd.2	+	4	1257	c.488C>T	c.(487-489)GCG>GTG	p.A163V	ISLR2_uc002axe.2_Missense_Mutation_p.A163V|ISLR2_uc010bjg.2_Missense_Mutation_p.A163V|ISLR2_uc010bjf.2_Missense_Mutation_p.A163V	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	163	Extracellular (Potential).|LRR 5.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						CGTACGCTGGCGCCTGGCACC	0.652												
LMAN1L	79748	broad.mit.edu	37	15	75117889	75117889	+	Silent	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:75117889C>A	uc002ayt.1	+	14	1526	c.1524C>A	c.(1522-1524)ACC>ACA	p.T508T	LMAN1L_uc010bke.1_Silent_p.T496T|CPLX3_uc002ayu.1_5'Flank	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like precursor	508	Cytoplasmic (Potential).					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding				0						CACCACACACCCCCAGGGCCC	0.612												
PTPN9	5780	broad.mit.edu	37	15	75763086	75763086	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:75763086T>C	uc002bal.2	-	11	1802	c.1294A>G	c.(1294-1296)ACC>GCC	p.T432A		NM_002833	NP_002824	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type	432	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			lung(1)|skin(1)	2						CCTAGATTGGTCACTGTGAGG	0.438												
SNUPN	10073	broad.mit.edu	37	15	75890977	75890977	+	Missense_Mutation	SNP	C	C	T	rs138384328	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:75890977C>T	uc002ban.2	-	9	895	c.805G>A	c.(805-807)GGA>AGA	p.G269R	SNUPN_uc002bao.2_Missense_Mutation_p.G269R|SNUPN_uc002bap.2_Missense_Mutation_p.G311R|SNUPN_uc002baq.2_Missense_Mutation_p.G269R|SNUPN_uc002bar.2_Missense_Mutation_p.G269R|SNUPN_uc002bas.2_Missense_Mutation_p.G269R	NM_005701	NP_005692	O95149	SPN1_HUMAN	snurportin 1	269	Necessary for binding to the m3G-cap structure.				ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding			pancreas(1)	1						GGAGTGCTTCCGGGGCTGTAG	0.552												
MORF4L1	10933	broad.mit.edu	37	15	79170560	79170560	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:79170560C>T	uc002bel.2	+	2	234	c.46C>T	c.(46-48)CGA>TGA	p.R16*	MORF4L1_uc010bli.1_Nonsense_Mutation_p.R16*|MORF4L1_uc010blj.1_Nonsense_Mutation_p.R16*|MORF4L1_uc002bem.2_Nonsense_Mutation_p.R16*|MORF4L1_uc010une.1_5'UTR	NM_206839	NP_996670	Q9UBU8	MO4L1_HUMAN	MORF-related gene 15 isoform 2	16					double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding				0						TACAGGTGAGCGAGTGCTGTG	0.358												
WHAMM	123720	broad.mit.edu	37	15	83481903	83481903	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:83481903G>A	uc002bje.2	+	2	1164	c.658G>A	c.(658-660)GTT>ATT	p.V220I		NM_001080435	NP_001073904	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi	220						cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding				0						ATTAATGAACGTTTACCAAGA	0.408												
PDE8A	5151	broad.mit.edu	37	15	85634368	85634368	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:85634368G>A	uc002blh.2	+	8	997	c.808G>A	c.(808-810)GCT>ACT	p.A270T	PDE8A_uc002bli.2_Intron|PDE8A_uc010bnc.2_Missense_Mutation_p.A23T|PDE8A_uc010bnd.2_Missense_Mutation_p.A23T|PDE8A_uc002blj.2_Intron|PDE8A_uc002blk.2_Intron	NM_002605	NP_002596	O60658	PDE8A_HUMAN	phosphodiesterase 8A isoform 1	270	PAS.				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			TGAAAAAAAGGCTGACTTGCT	0.393												
AGBL1	123624	broad.mit.edu	37	15	86813174	86813174	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:86813174C>T	uc002blz.1	+	13	1805	c.1725C>T	c.(1723-1725)AAC>AAT	p.N575N	AGBL1_uc002bma.1_Silent_p.N306N|AGBL1_uc002bmb.1_Silent_p.N269N	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	575					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0						TGCTGGTCAACGCAGATGTGA	0.473												
SV2B	9899	broad.mit.edu	37	15	91835608	91835608	+	Silent	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:91835608C>A	uc002bqv.2	+	12	2269	c.1878C>A	c.(1876-1878)GCC>GCA	p.A626A	SV2B_uc010uqv.1_Silent_p.A475A|SV2B_uc002bqu.3_RNA	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	synaptic vesicle protein 2B homolog	626	Cytoplasmic (Potential).				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GAGCAACAGCCTTCGGCATTC	0.443												
PCSK6	5046	broad.mit.edu	37	15	101971538	101971538	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:101971538A>G	uc002bwy.2	-	5	958	c.644T>C	c.(643-645)CTG>CCG	p.L215P	PCSK6_uc010bpd.2_Missense_Mutation_p.L85P|PCSK6_uc010bpe.2_Missense_Mutation_p.L215P|PCSK6_uc002bxa.2_Missense_Mutation_p.L215P|PCSK6_uc002bxb.2_Missense_Mutation_p.L215P|PCSK6_uc002bxc.1_Missense_Mutation_p.L215P|PCSK6_uc002bxd.1_Missense_Mutation_p.L215P|PCSK6_uc002bxe.2_Missense_Mutation_p.L215P|PCSK6_uc002bxg.1_Missense_Mutation_p.L215P	NM_002570	NP_002561	P29122	PCSK6_HUMAN	paired basic amino acid cleaving system 4	215	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			pancreas(2)	2	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATTTGGGGCCAGGTCAGGGTG	0.448												
LUC7L	55692	broad.mit.edu	37	16	258086	258086	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:258086A>G	uc002cgc.1	-	4	468	c.357T>C	c.(355-357)GTT>GTC	p.V119V	LUC7L_uc002cga.1_Silent_p.V119V|LUC7L_uc002cgd.1_RNA|LUC7L_uc002cge.1_Silent_p.V119V|LUC7L_uc002cgb.1_Silent_p.V33V	NM_201412	NP_958815	Q9NQ29	LUC7L_HUMAN	LUC7-like isoform b	119	Potential.						metal ion binding			central_nervous_system(1)	1		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CCTTTGCAGAAACTTCCGCAC	0.403												
RAB40C	57799	broad.mit.edu	37	16	676075	676075	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:676075C>T	uc002chr.2	+	5	635	c.519C>T	c.(517-519)ATC>ATT	p.I173I	RAB40C_uc002chq.2_Silent_p.I154I	NM_021168	NP_066991	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	173					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0		Hepatocellular(780;0.0218)				TATCCCGCATCGTGCTCATGC	0.642												
WDR90	197335	broad.mit.edu	37	16	702537	702537	+	Splice_Site	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:702537T>C	uc002cii.1	+	10	1176	c.1122_splice	c.e10+2	p.Q374_splice	WDR90_uc002cig.1_Splice_Site_p.Q374_splice|WDR90_uc002cih.1_Splice_Site_p.Q375_splice|WDR90_uc002cij.1_Splice_Site|WDR90_uc002cik.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90											ovary(1)	1		Hepatocellular(780;0.0218)				ACCAGACAGGTGAGGCTCCTG	0.622												
WDR90	197335	broad.mit.edu	37	16	715686	715686	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:715686A>G	uc002cii.1	+	35	4373	c.4319A>G	c.(4318-4320)GAG>GGG	p.E1440G	WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_RNA|WDR90_uc002cin.1_Missense_Mutation_p.E55G|WDR90_uc010uul.1_Missense_Mutation_p.E39G|WDR90_uc002cio.1_Missense_Mutation_p.E39G|WDR90_uc010bqx.1_Missense_Mutation_p.E39G|RHOT2_uc010uum.1_5'Flank|RHOT2_uc002cip.2_5'Flank|RHOT2_uc002ciq.2_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1440	WD 17.									ovary(1)	1		Hepatocellular(780;0.0218)				CAGGTGAACGAGGTGGTCTTC	0.652												
RHOT2	89941	broad.mit.edu	37	16	721704	721704	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:721704G>A	uc002cip.2	+	12	944	c.877G>A	c.(877-879)GTG>ATG	p.V293M	RHOT2_uc002ciq.2_Missense_Mutation_p.V186M|RHOT2_uc010bqy.2_Missense_Mutation_p.V72M	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN	ras homolog gene family, member T2	293	Mitochondrial intermembrane (Potential).				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			pancreas(1)	1		Hepatocellular(780;0.0218)				CAGGATCCACGTGCCCCCCGG	0.617												
SSTR5	6755	broad.mit.edu	37	16	1129314	1129314	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:1129314G>A	uc002ckq.2	+	1	534	c.446G>A	c.(445-447)CGC>CAC	p.R149H	LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank	NM_001053	NP_001044	P35346	SSR5_HUMAN	somatostatin receptor 5	149	Cytoplasmic (Potential).				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			lung(1)	1		Hepatocellular(780;0.00369)			Octreotide(DB00104)	AGCTCGGCCCGCTGGCGCCGC	0.682												
IFT140	9742	broad.mit.edu	37	16	1652450	1652450	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:1652450G>A	uc002cmb.2	-	4	652	c.290C>T	c.(289-291)ACG>ATG	p.T97M		NM_014714	NP_055529	Q96RY7	IF140_HUMAN	intraflagellar transport 140	97	WD 2.									ovary(3)|pancreas(1)|skin(1)	5		Hepatocellular(780;0.219)				CAGGGGCATCGTGTGCTGCTC	0.617												
MAPK8IP3	23162	broad.mit.edu	37	16	1818284	1818284	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:1818284C>T	uc002cmk.2	+	30	3764	c.3644C>T	c.(3643-3645)GCG>GTG	p.A1215V	MAPK8IP3_uc002cml.2_Missense_Mutation_p.A1209V|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.A1216V	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	1215					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3						AGTGACAGGGCGGCCAGCAGC	0.632												
ZNF598	90850	broad.mit.edu	37	16	2052681	2052681	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:2052681C>A	uc002cof.1	-	6	533	c.518G>T	c.(517-519)CGC>CTC	p.R173L	ZNF598_uc002coe.1_5'Flank	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	zinc finger protein 598	173						intracellular	zinc ion binding			lung(1)|breast(1)	2						ACCCTGCATGCGATGCCGGGC	0.617												
SRRM2	23524	broad.mit.edu	37	16	2812472	2812472	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:2812472G>A	uc002crk.2	+	11	2492	c.1943G>A	c.(1942-1944)CGC>CAC	p.R648H	SRRM2_uc002crj.1_Missense_Mutation_p.R552H|SRRM2_uc002crl.1_Missense_Mutation_p.R648H|SRRM2_uc010bsu.1_Missense_Mutation_p.R552H	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	648	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GGCAGGTCACGCTCTAGAACC	0.607												
SRRM2	23524	broad.mit.edu	37	16	2813634	2813634	+	Silent	SNP	C	C	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:2813634C>G	uc002crk.2	+	11	3654	c.3105C>G	c.(3103-3105)CTC>CTG	p.L1035L	SRRM2_uc002crj.1_Silent_p.L939L|SRRM2_uc002crl.1_Silent_p.L1035L|SRRM2_uc010bsu.1_Silent_p.L939L	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	1035	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						CCCTCTCTCTCTGTGCAGGAG	0.478												
CLDN6	9074	broad.mit.edu	37	16	3065718	3065718	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:3065718G>A	uc002csu.3	-	2	365	c.305C>T	c.(304-306)GCC>GTC	p.A102V		NM_021195	NP_067018	P56747	CLD6_HUMAN	claudin 6	102	Helical; (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						GGTACACTTGGCCCCAGCAAG	0.612												
ZNF597	146434	broad.mit.edu	37	16	3487176	3487176	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:3487176G>A	uc002cvd.2	-	4	707	c.523C>T	c.(523-525)CAG>TAG	p.Q175*		NM_152457	NP_689670	Q96LX8	ZN597_HUMAN	zinc finger protein 597	175	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGAATTTTCTGATGCAAAACT	0.403												
BTBD12	84464	broad.mit.edu	37	16	3639789	3639789	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:3639789C>T	uc002cvp.2	-	12	4477	c.3850G>A	c.(3850-3852)GTG>ATG	p.V1284M		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1284	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						ACCGCCTGCACGGCCAGCCCG	0.632								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia			
DNASE1	1773	broad.mit.edu	37	16	3705926	3705926	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:3705926A>G	uc002cvr.2	+	3	2331	c.224A>G	c.(223-225)GAC>GGC	p.D75G		NM_005223	NP_005214	P24855	DNAS1_HUMAN	deoxyribonuclease I precursor	75					apoptosis|DNA catabolic process	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity				0		Ovarian(90;0.0261)		Kidney(780;0.0556)	Dornase Alfa(DB00003)	AAGCTGCTGGACAACCTCAAT	0.627								Direct_reversal_of_damage				
ADCY9	115	broad.mit.edu	37	16	4164856	4164856	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:4164856C>T	uc002cvx.2	-	2	1127	c.588G>A	c.(586-588)ACG>ACA	p.T196T		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	196	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						CTGAGACAGGCGTCAAGACCT	0.617												
GLYR1	84656	broad.mit.edu	37	16	4871450	4871450	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:4871450G>T	uc002cxx.3	-	9	774	c.737C>A	c.(736-738)ACT>AAT	p.T246N	GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Missense_Mutation_p.T160N|GLYR1_uc002cya.2_Missense_Mutation_p.T246N|GLYR1_uc010uxv.1_Missense_Mutation_p.T165N	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	cytokine-like nuclear factor n-pac	246					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity				0						GGTGGAGCCAGTTTCCTACGG	0.522												
NAGPA	51172	broad.mit.edu	37	16	5083687	5083687	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:5083687C>T	uc002cyg.2	-	2	150	c.129G>A	c.(127-129)GCG>GCA	p.A43A	ALG1_uc002cyj.2_5'Flank|NAGPA_uc002cyf.2_5'UTR|NAGPA_uc002cyh.2_RNA|NAGPA_uc002cyi.2_5'UTR|NAGPA_uc010uxx.1_Silent_p.A43A	NM_016256	NP_057340	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester	43	Lumenal (Potential).				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity				0					N-Acetyl-D-glucosamine(DB00141)	GGCGCGCGCGCGCGCGTGGAT	0.761												
ALG1	56052	broad.mit.edu	37	16	5130946	5130946	+	Splice_Site	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:5130946G>A	uc002cym.2	+	10	1003	c.962_splice	c.e10-1	p.G321_splice	ALG1_uc002cyj.2_Splice_Site_p.G210_splice|ALG1_uc002cyn.2_Splice_Site_p.G321_splice|ALG1_uc010bue.2_Splice_Site_p.G210_splice|ALG1_uc010uxy.1_Splice_Site_p.G210_splice	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN	beta-1,4-mannosyltransferase						dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(90;0.0164)				TCTCTGTGAAGGCAAAGGGCC	0.612												
TMEM186	25880	broad.mit.edu	37	16	8889867	8889867	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:8889867C>T	uc002cze.2	-	2	618	c.584G>A	c.(583-585)CGC>CAC	p.R195H	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	195						integral to membrane|mitochondrion				ovary(1)	1						GTCCAGGATGCGTCCATAGCG	0.557												
TMEM186	25880	broad.mit.edu	37	16	8890042	8890042	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:8890042C>T	uc002cze.2	-	2	443	c.409G>A	c.(409-411)GGC>AGC	p.G137S	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	137						integral to membrane|mitochondrion				ovary(1)	1						AGCATGGTGCCAGACTCATTC	0.552												
USP7	7874	broad.mit.edu	37	16	8988952	8988952	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:8988952A>G	uc002czl.2	-	28	3174	c.2975T>C	c.(2974-2976)GTG>GCG	p.V992A	USP7_uc010uyk.1_Missense_Mutation_p.V893A|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.V893A|USP7_uc002czk.2_Missense_Mutation_p.V976A	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	992					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3						GAAATGCGCCACTGTGACAAG	0.502												
ATF7IP2	80063	broad.mit.edu	37	16	10525021	10525021	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:10525021G>A	uc002czu.2	+	3	771	c.544G>A	c.(544-546)GAG>AAG	p.E182K	ATF7IP2_uc002czv.2_Missense_Mutation_p.E182K|ATF7IP2_uc010uyo.1_RNA|ATF7IP2_uc010uyp.1_Intron|ATF7IP2_uc002czw.2_Missense_Mutation_p.E182K|ATF7IP2_uc010uyq.1_RNA	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						TCAGATGCCAGAGTCTACAGT	0.428												
CIITA	4261	broad.mit.edu	37	16	11000842	11000842	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:11000842T>C	uc002dai.3	+	11	1626	c.1493T>C	c.(1492-1494)CTA>CCA	p.L498P	CIITA_uc002daj.3_Missense_Mutation_p.L499P|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Missense_Mutation_p.L498P|CIITA_uc002dah.2_Missense_Mutation_p.L450P|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	498	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1						CTGCTCATCCTAGACGGCTTC	0.657			T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|							
CIITA	4261	broad.mit.edu	37	16	11000938	11000938	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:11000938C>T	uc002dai.3	+	11	1722	c.1589C>T	c.(1588-1590)GCC>GTC	p.A530V	CIITA_uc002daj.3_Missense_Mutation_p.A531V|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Missense_Mutation_p.A530V|CIITA_uc002dah.2_Missense_Mutation_p.A482V|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	530	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1						GGGCTGCTGGCCGGCCTTTTC	0.692			T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|							
CIITA	4261	broad.mit.edu	37	16	11016335	11016335	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:11016335T>C	uc002dai.3	+	18	3438	c.3305T>C	c.(3304-3306)GTG>GCG	p.V1102A	CIITA_uc002daj.3_Missense_Mutation_p.V1103A|CIITA_uc002dak.3_Missense_Mutation_p.V518A	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	1102					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1						TGTCCTCATGTGGAGACGCTG	0.562			T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|							
CLEC16A	23274	broad.mit.edu	37	16	11118742	11118742	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:11118742G>A	uc002dao.2	+	13	1731	c.1501G>A	c.(1501-1503)GTG>ATG	p.V501M	CLEC16A_uc002dan.3_Missense_Mutation_p.V483M	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	501								p.0?(1)		ovary(1)|central_nervous_system(1)	2						TGCCCTGTTCGTGCTCTGCCT	0.547												
TXNDC11	51061	broad.mit.edu	37	16	11773600	11773600	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:11773600G>A	uc010buu.1	-	13	2471	c.2409C>T	c.(2407-2409)AGC>AGT	p.S803S	TXNDC11_uc002dbg.1_Silent_p.S776S	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	803					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0						CATTCTGGGGGCTGGAAGCAG	0.527												
ZC3H7A	29066	broad.mit.edu	37	16	11873209	11873209	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:11873209C>T	uc002dbk.2	-	3	317	c.119G>A	c.(118-120)CGT>CAT	p.R40H	ZC3H7A_uc002dbl.2_Missense_Mutation_p.R40H|ZC3H7A_uc002dbm.1_Missense_Mutation_p.R40H	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	40						nucleus	nucleic acid binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						CACGAGAGCACGCAAATATAC	0.333												
MKL2	57496	broad.mit.edu	37	16	14334332	14334332	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:14334332C>T	uc010uza.1	+	10	1225	c.1070C>T	c.(1069-1071)GCA>GTA	p.A357V	MKL2_uc002dcg.2_Missense_Mutation_p.A357V|MKL2_uc002dch.2_Missense_Mutation_p.A346V|MKL2_uc010uzb.1_Missense_Mutation_p.A306V	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	megakaryoblastic leukemia 2 protein	346					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			ovary(3)|kidney(1)|pancreas(1)	5						ATCCTGCCTGCACCATTCAAG	0.502												
BFAR	51283	broad.mit.edu	37	16	14742310	14742310	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:14742310A>G	uc002dco.2	+	3	610	c.329A>G	c.(328-330)AAT>AGT	p.N110S	BFAR_uc002dcm.2_Missense_Mutation_p.N110S|BFAR_uc002dcn.2_Intron|BFAR_uc002dcp.2_Intron|BFAR_uc010uzh.1_Intron	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	110	Cytoplasmic (Potential).				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			ovary(1)|skin(1)	2						CAGCAGAATAATGACATAGTC	0.403												
NTAN1	123803	broad.mit.edu	37	16	15133905	15133905	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:15133905G>A	uc002ddd.2	-	8	565	c.560C>T	c.(559-561)GCA>GTA	p.A187V	PDXDC1_uc002ddc.2_Intron|NTAN1_uc010uzo.1_Missense_Mutation_p.A82V	NM_173474	NP_775745	Q96AB6	NTAN1_HUMAN	N-terminal Asn amidase	187						cytoplasm					0						GTAAATCTCTGCAGTCTTAAT	0.473												
ABCC1	4363	broad.mit.edu	37	16	16108453	16108453	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:16108453C>A	uc010bvi.2	+	4	632	c.457C>A	c.(457-459)CTG>ATG	p.L153M	ABCC1_uc010bvj.2_Missense_Mutation_p.L153M|ABCC1_uc010bvk.2_Missense_Mutation_p.L153M|ABCC1_uc010bvl.2_Missense_Mutation_p.L153M|ABCC1_uc010bvm.2_Missense_Mutation_p.L153M|ABCC1_uc002del.3_Missense_Mutation_p.L37M|ABCC1_uc010bvn.2_Missense_Mutation_p.L16M	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	153	Helical; Name=4.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CCTAGCCATCCTGAGATCCAA	0.512												
ARL6IP1	23204	broad.mit.edu	37	16	18806789	18806789	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:18806789C>T	uc002dfl.1	-	4	474	c.405G>A	c.(403-405)AAG>AAA	p.K135K	ARL6IP1_uc010van.1_Silent_p.K106K|ARL6IP1_uc010bvz.1_Intron	NM_015161	NP_055976	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting	135	Helical; (Potential).					integral to membrane	protein binding				0						AAAGTACCATCTTAGGTTTTT	0.338												
TMC5	79838	broad.mit.edu	37	16	19483534	19483534	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:19483534C>T	uc002dgc.3	+	11	2656	c.1907C>T	c.(1906-1908)GCC>GTC	p.A636V	TMC5_uc010vaq.1_Intron|TMC5_uc002dgb.3_Missense_Mutation_p.A636V|TMC5_uc010var.1_Missense_Mutation_p.A636V|TMC5_uc002dgd.1_Missense_Mutation_p.A390V|TMC5_uc002dge.3_Missense_Mutation_p.A390V|TMC5_uc002dgf.3_Missense_Mutation_p.A319V|TMC5_uc002dgg.3_Missense_Mutation_p.A277V	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	636	Helical; (Potential).					integral to membrane				skin(1)	1						TGCTGTGCAGCCGTTTATTAC	0.542												
IQCK	124152	broad.mit.edu	37	16	19745102	19745102	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:19745102G>A	uc002dgr.2	+	4	1028	c.329G>A	c.(328-330)CGT>CAT	p.R110H	IQCK_uc002dgs.2_RNA|IQCK_uc010vat.1_Missense_Mutation_p.R110H|IQCK_uc010bwc.2_RNA|IQCK_uc010vau.1_Missense_Mutation_p.R22H	NM_153208	NP_694940	Q8N0W5	IQCK_HUMAN	IQ motif containing K	110										skin(1)	1						ATGATCTCACGTACACCCTGT	0.438												
DNAH3	55567	broad.mit.edu	37	16	20966217	20966217	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:20966217C>A	uc010vbe.1	-	55	10989	c.10989G>T	c.(10987-10989)AAG>AAT	p.K3663N	DNAH3_uc010vbd.1_Missense_Mutation_p.K1098N	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3663	AAA 6 (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)		ACATCACCGCCTTTGCACAGC	0.517												
USP31	57478	broad.mit.edu	37	16	23080573	23080573	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:23080573G>A	uc002dll.2	-	16	2853	c.2853C>T	c.(2851-2853)GAC>GAT	p.D951D	USP31_uc002dlk.2_Silent_p.D223D|USP31_uc010vca.1_Silent_p.D254D|USP31_uc010bxm.2_Silent_p.D239D	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	951	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		TGTCCGATTCGTCTTTGAACA	0.557												
USP31	57478	broad.mit.edu	37	16	23080800	23080800	+	Missense_Mutation	SNP	G	G	A	rs149268440		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:23080800G>A	uc002dll.2	-	16	2626	c.2626C>T	c.(2626-2628)CGC>TGC	p.R876C	USP31_uc002dlk.2_Missense_Mutation_p.R148C|USP31_uc010vca.1_Missense_Mutation_p.R179C|USP31_uc010bxm.2_Missense_Mutation_p.R164C	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	876	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		GAATTGGAGCGCATCTGCAGC	0.517												
IL21R	50615	broad.mit.edu	37	16	27441381	27441381	+	Translation_Start_Site	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:27441381G>A	uc002doq.1	+	2	222	c.-11G>A	c.(-13--9)CCGTG>CCATG		IL21R_uc002dor.1_Translation_Start_Site|IL21R_uc002dos.1_Translation_Start_Site	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor precursor						natural killer cell activation	integral to membrane	interleukin-21 receptor activity			ovary(2)|lung(1)|breast(1)	4						TTGCAGGCCCGTGGGAGTCAG	0.706			T	BCL6	NHL							
GTF3C1	2975	broad.mit.edu	37	16	27481581	27481581	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:27481581G>A	uc002dov.1	-	31	4702	c.4662C>T	c.(4660-4662)AAC>AAT	p.N1554N	GTF3C1_uc002dou.2_Silent_p.N1554N	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1554						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						CCACCATGTCGTTTGTGGGCT	0.542												
GSG1L	146395	broad.mit.edu	37	16	27895882	27895882	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:27895882C>T	uc002doz.2	-	3	560	c.475G>A	c.(475-477)GAG>AAG	p.E159K	GSG1L_uc010bya.1_Intron|GSG1L_uc010bxz.1_Missense_Mutation_p.E4K|GSG1L_uc002doy.2_Missense_Mutation_p.E4K	NM_001109763	NP_001103233	Q6UXU4	GSG1L_HUMAN	GSG1-like isoform 1	159						integral to membrane				ovary(1)	1						TGGAAGAGCTCGAGACACATG	0.592												
SPN	6693	broad.mit.edu	37	16	29675600	29675600	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:29675600G>A	uc002dtm.2	+	2	687	c.551G>A	c.(550-552)GGA>GAA	p.G184E	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SPN_uc002dtn.2_Missense_Mutation_p.G184E|SPN_uc010bzd.2_RNA	NM_001030288	NP_001025459	P16150	LEUK_HUMAN	sialophorin precursor	184	Extracellular (Potential).				blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)	2						GGCACCTCTGGACCCCCTGTT	0.597												
TAOK2	9344	broad.mit.edu	37	16	29996880	29996880	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:29996880G>A	uc002dva.1	+	14	2552	c.1769G>A	c.(1768-1770)CGC>CAC	p.R590H	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.R590H|TAOK2_uc002dvc.1_Missense_Mutation_p.R590H|TAOK2_uc010bzm.1_Missense_Mutation_p.R597H|TAOK2_uc002dvd.1_Missense_Mutation_p.R417H	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	590	Potential.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						TACAAACTTCGCAAGGAACAG	0.642												
ITGAL	3683	broad.mit.edu	37	16	30532882	30532882	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:30532882G>A	uc002dyi.3	+	31	3585	c.3409G>A	c.(3409-3411)GCA>ACA	p.A1137T	ITGAL_uc002dyj.3_Missense_Mutation_p.A1053T|ITGAL_uc010vev.1_Missense_Mutation_p.A371T	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	1137	Cytoplasmic (Potential).				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)	TGGAATCCCTGCAGAAGACTC	0.542												
ARMC5	79798	broad.mit.edu	37	16	31473646	31473646	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:31473646C>T	uc002ecc.2	+	3	1307	c.778C>T	c.(778-780)CGT>TGT	p.R260C	ARMC5_uc010vfn.1_Missense_Mutation_p.R355C|ARMC5_uc010vfo.1_Missense_Mutation_p.R292C|ARMC5_uc002eca.3_Missense_Mutation_p.R260C|ARMC5_uc010vfp.1_Intron|ARMC5_uc002ecb.2_Missense_Mutation_p.R260C	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5 isoform a	260	ARM 3.						binding			pancreas(1)	1						AGCCCTCGTCCGTGCCCTCCT	0.687												
ARMC5	79798	broad.mit.edu	37	16	31477726	31477726	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:31477726G>A	uc002ecc.2	+	6	2853	c.2324G>A	c.(2323-2325)CGG>CAG	p.R775Q	ARMC5_uc010vfn.1_Missense_Mutation_p.R870Q|ARMC5_uc010vfo.1_Missense_Mutation_p.R807Q|ARMC5_uc002eca.3_3'UTR|ARMC5_uc010vfp.1_Missense_Mutation_p.R583Q|ARMC5_uc002ecb.2_3'UTR	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5 isoform a	775	BTB.						binding			pancreas(1)	1						CCTTTCTTCCGGGCCCTGCTG	0.667												
ABCC12	94160	broad.mit.edu	37	16	48139203	48139203	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:48139203G>A	uc002efc.1	-	19	2866	c.2520C>T	c.(2518-2520)GGC>GGT	p.G840G	ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	ATP-binding cassette protein C12	840	ABC transmembrane type-1 2.					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)				CCAGCACCGCGCCGACCTCAC	0.527												
HEATR3	55027	broad.mit.edu	37	16	50106523	50106523	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:50106523A>C	uc002efw.2	+	5	682	c.520A>C	c.(520-522)AGT>CGT	p.S174R	HEATR3_uc002efx.2_Missense_Mutation_p.S88R	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	174							binding			ovary(1)|skin(1)	2						TAGTGAATGCAGTAGTAGAGC	0.338												
RBL2	5934	broad.mit.edu	37	16	53524153	53524153	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:53524153A>C	uc002ehi.3	+	22	3479	c.3361A>C	c.(3361-3363)AAT>CAT	p.N1121H	RBL2_uc002ehj.2_Missense_Mutation_p.N831H|RBL2_uc010vgw.1_Missense_Mutation_p.N500H	NM_005611	NP_005602	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	1121					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						TTGCCCAGAAAATCATTCTGC	0.383												
IRX6	79190	broad.mit.edu	37	16	55363085	55363085	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:55363085G>A	uc002ehy.2	+	5	1728	c.1195G>A	c.(1195-1197)GCG>ACG	p.A399T	IRX6_uc002ehx.2_Missense_Mutation_p.A399T	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	399						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						CAGAGACTCCGCGTGCGACGA	0.642												
IRX6	79190	broad.mit.edu	37	16	55363166	55363166	+	Missense_Mutation	SNP	C	C	T	rs138532658		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:55363166C>T	uc002ehy.2	+	5	1809	c.1276C>T	c.(1276-1278)CCG>TCG	p.P426S	IRX6_uc002ehx.2_Missense_Mutation_p.P426S	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	426						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						GAACTGTGCGCCGTGCCCGCG	0.617												
HERPUD1	9709	broad.mit.edu	37	16	56966259	56966259	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:56966259G>A	uc002eke.1	+	1	512	c.103G>A	c.(103-105)GGC>AGC	p.G35S	HERPUD1_uc010vhj.1_Missense_Mutation_p.G96S|HERPUD1_uc002ekf.1_Missense_Mutation_p.G35S|HERPUD1_uc002ekg.1_Missense_Mutation_p.G35S|HERPUD1_uc010cco.1_Missense_Mutation_p.G96S|HERPUD1_uc010ccp.1_Missense_Mutation_p.G96S	NM_014685	NP_055500	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum	35	Ubiquitin-like.|Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	protein binding				0						CTGGAGTGTGGGCCACCTCAA	0.721			T	ERG	prostate							
NLRC5	84166	broad.mit.edu	37	16	57095558	57095558	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:57095558C>T	uc002ekk.1	+	32	4324	c.4099C>T	c.(4099-4101)CAG>TAG	p.Q1367*	NLRC5_uc002ekn.2_Nonsense_Mutation_p.Q1028*|NLRC5_uc002ekl.2_Nonsense_Mutation_p.Q1171*|NLRC5_uc002ekm.2_Nonsense_Mutation_p.Q1141*|NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekp.1_Nonsense_Mutation_p.Q282*|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_Nonsense_Mutation_p.Q254*	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	1367					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)				GGGCCAGAAGCAGCTGGCCAT	0.677												
CX3CL1	6376	broad.mit.edu	37	16	57416243	57416243	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:57416243T>C	uc002eli.2	+	3	560	c.493T>C	c.(493-495)TCA>CCA	p.S165P		NM_002996	NP_002987	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1 precursor	165	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						GACTGGTTCCTCAGGGACCAG	0.672												
GPR56	9289	broad.mit.edu	37	16	57689903	57689903	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:57689903C>T	uc002emb.2	+	8	1308	c.1016C>T	c.(1015-1017)CCG>CTG	p.P339L	GPR56_uc002elz.1_Missense_Mutation_p.P169L|GPR56_uc002ema.1_Missense_Mutation_p.P164L|GPR56_uc002emc.2_Missense_Mutation_p.P339L|GPR56_uc002emf.2_Missense_Mutation_p.P339L|GPR56_uc010vhs.1_Missense_Mutation_p.P339L|GPR56_uc002emd.2_Missense_Mutation_p.P339L|GPR56_uc002eme.2_Missense_Mutation_p.P339L|GPR56_uc010vht.1_Missense_Mutation_p.P344L|GPR56_uc002emg.3_Missense_Mutation_p.P339L|GPR56_uc010vhu.1_Missense_Mutation_p.P164L	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56 isoform a	339	Extracellular (Potential).				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity				0						CAGCTACAGCCGGTGAGTGGG	0.552												
CNOT1	23019	broad.mit.edu	37	16	58617056	58617056	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:58617056C>T	uc002env.2	-	9	1130	c.837G>A	c.(835-837)CAG>CAA	p.Q279Q	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Silent_p.Q279Q|CNOT1_uc002enx.2_Silent_p.Q279Q|CNOT1_uc002enz.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	279					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GAACACCAAACTGCACGATTA	0.428												
CDH11	1009	broad.mit.edu	37	16	64981896	64981896	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:64981896C>T	uc002eoi.2	-	13	2435	c.2001G>A	c.(1999-2001)GGG>GGA	p.G667G	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_3'UTR|CDH11_uc010vin.1_Silent_p.G541G	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	667	Cytoplasmic (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)		CTTCCCCACCCCCTTCATCAT	0.433			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)		
CDH11	1009	broad.mit.edu	37	16	65038607	65038607	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:65038607C>T	uc002eoi.2	-	3	600	c.166G>A	c.(166-168)GTC>ATC	p.V56I	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.V56I|CDH11_uc010vin.1_Intron|CDH11_uc010vio.1_Missense_Mutation_p.V56I	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	56	Extracellular (Potential).|Cadherin 1.				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)		TGGTTCCAGACCCAGCCACGC	0.637			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)		
FHOD1	29109	broad.mit.edu	37	16	67265542	67265542	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:67265542G>A	uc002esl.2	-	15	2495	c.2383C>T	c.(2383-2385)CGG>TGG	p.R795W	FHOD1_uc002esk.2_5'Flank|FHOD1_uc010ced.2_Missense_Mutation_p.R602W	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	795	Interaction with ROCK1.|FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(2)|ovary(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CCAGGTACCCGCTCCATGCTG	0.562												
PLEKHG4	25894	broad.mit.edu	37	16	67316181	67316181	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:67316181A>G	uc002eso.3	+	8	3717	c.1182A>G	c.(1180-1182)CAA>CAG	p.Q394Q	PLEKHG4_uc002esp.3_Silent_p.Q201Q|PLEKHG4_uc002esq.3_Silent_p.Q394Q|PLEKHG4_uc010cef.2_Silent_p.Q394Q|PLEKHG4_uc002ess.3_Silent_p.Q394Q|PLEKHG4_uc010ceg.2_Silent_p.Q313Q	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G	394					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CATGGCTACAATGCCAGGGGG	0.607												
CTCF	10664	broad.mit.edu	37	16	67660619	67660619	+	Splice_Site	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:67660619G>A	uc002etl.2	+	8	1808	c.1518_splice	c.e8+1	p.Q506_splice	CTCF_uc010cek.2_Splice_Site_p.Q178_splice|CTCF_uc002etm.1_5'Flank	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor						chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TTGTAGACAGGTAGGAACCTT	0.428												
RLTPR	146206	broad.mit.edu	37	16	67683857	67683857	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:67683857C>T	uc002etn.2	+	21	2188	c.2068C>T	c.(2068-2070)CGT>TGT	p.R690C	RLTPR_uc010cel.1_Missense_Mutation_p.R683C|RLTPR_uc010vjr.1_Missense_Mutation_p.R654C	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	690										breast(1)	1		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		ACTGACAGCACGTGCAGTCCA	0.642												
LCAT	3931	broad.mit.edu	37	16	67976779	67976779	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:67976779T>C	uc002euy.1	-	3	423	c.412A>G	c.(412-414)AGC>GGC	p.S138G		NM_000229	NP_000220	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase precursor	138					cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		AGCTTGCTGCTGTCCAGGTAC	0.652												
NOB1	28987	broad.mit.edu	37	16	69776336	69776336	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:69776336T>C	uc002exs.2	-	9	1154	c.1138A>G	c.(1138-1140)AGC>GGC	p.S380G		NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN	nin one binding protein	380						nucleus	metal ion binding|protein binding				0						GCTGAGCGGCTGGAGATGTCA	0.572												
HYDIN	54768	broad.mit.edu	37	16	70841851	70841851	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:70841851T>C	uc002ezr.2	-	86	15123	c.14995A>G	c.(14995-14997)AAG>GAG	p.K4999E	HYDIN_uc010cfy.2_RNA	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	5000										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				AGGATGCCCTTGGTCTCACCC	0.567												
HYDIN	54768	broad.mit.edu	37	16	70852299	70852299	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:70852299G>A	uc002ezr.2	-	84	14729	c.14601C>T	c.(14599-14601)TGC>TGT	p.C4867C	HYDIN_uc010cfy.2_RNA	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	4868										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				CGGGCATCCGGCATTCCGTGG	0.617												
ZNF19	7567	broad.mit.edu	37	16	71509691	71509691	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:71509691A>G	uc010cgc.1	-	6	1265	c.759T>C	c.(757-759)AGT>AGC	p.S253S	ZNF23_uc002fai.2_Intron|ZNF19_uc002fak.1_Silent_p.S241S|ZNF19_uc002fal.1_Silent_p.S241S|ZNF19_uc002fam.1_Silent_p.S253S	NM_006961	NP_008892	P17023	ZNF19_HUMAN	zinc finger protein 19	253	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		TACTCGTGAAACTATTCCCAC	0.443												
ZFHX3	463	broad.mit.edu	37	16	72821576	72821576	+	Silent	SNP	C	C	T	rs138643120		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:72821576C>T	uc002fck.2	-	10	11272	c.10599G>A	c.(10597-10599)GCG>GCA	p.A3533A	uc002fcj.1_RNA|ZFHX3_uc002fcl.2_Silent_p.A2619A	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3533	C2H2-type 22.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				CGCTCTCGCACGCCAGGCAGT	0.393												
ZFHX3	463	broad.mit.edu	37	16	72991508	72991508	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:72991508C>T	uc002fck.2	-	2	3210	c.2537G>A	c.(2536-2538)CGC>CAC	p.R846H	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	846				RHLG -> HHRV (in Ref. 1).	muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				GCCCAGGTGGCGGTTGTGTTG	0.562												
GLG1	2734	broad.mit.edu	37	16	74526897	74526897	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:74526897G>A	uc002fcy.3	-	7	1242	c.1192C>T	c.(1192-1194)CTC>TTC	p.L398F	GLG1_uc002fcx.2_Missense_Mutation_p.L398F|GLG1_uc002fcw.3_Missense_Mutation_p.L387F|GLG1_uc002fcz.3_Intron	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN	golgi apparatus protein 1 isoform 3	398	Cys-rich GLG1 5.|Extracellular (Potential).					Golgi membrane|integral to membrane	receptor binding			ovary(1)|breast(1)	2						AAGTAGGAGAGCCTGGCTTCA	0.398												
ADAMTS18	170692	broad.mit.edu	37	16	77334209	77334209	+	Silent	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:77334209G>T	uc002ffc.3	-	17	3044	c.2625C>A	c.(2623-2625)GCC>GCA	p.A875A	ADAMTS18_uc010chc.1_Silent_p.A463A|ADAMTS18_uc002ffe.1_Silent_p.A571A	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	875	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						TCCAGGTATAGGCAGGTCTTT	0.473												
KIAA0182	23199	broad.mit.edu	37	16	85690909	85690909	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:85690909G>A	uc002fix.2	+	8	1413	c.1339G>A	c.(1339-1341)GCG>ACG	p.A447T	KIAA0182_uc002fiw.2_Missense_Mutation_p.A343T|KIAA0182_uc002fiy.2_Missense_Mutation_p.A374T	NM_014615	NP_055430	Q14687	GSE1_HUMAN	genetic suppressor element 1 isoform 1	447							protein binding			large_intestine(3)|ovary(1)|skin(1)	5						CGGCCTGCAGGCGCCCAAGCC	0.642												
KIAA0182	23199	broad.mit.edu	37	16	85698686	85698686	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:85698686G>A	uc002fix.2	+	12	2784	c.2710G>A	c.(2710-2712)GAC>AAC	p.D904N	KIAA0182_uc002fiw.2_Missense_Mutation_p.D800N|KIAA0182_uc002fiy.2_Missense_Mutation_p.D831N|KIAA0182_uc002fiz.2_Intron|KIAA0182_uc010cho.2_Missense_Mutation_p.D84N	NM_014615	NP_055430	Q14687	GSE1_HUMAN	genetic suppressor element 1 isoform 1	904							protein binding			large_intestine(3)|ovary(1)|skin(1)	5						AGCAGTGGCCGACTCCTTGAC	0.557												
CPNE7	27132	broad.mit.edu	37	16	89661935	89661935	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:89661935G>C	uc002fnp.2	+	16	1818	c.1688G>C	c.(1687-1689)GGC>GCC	p.G563A	CPNE7_uc002fnq.2_Missense_Mutation_p.G488A	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	copine 7 isoform b	563	VWFA.				lipid metabolic process		transporter activity				0		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		GGCGACGACGGCGTCCTGCGC	0.667												
SPATA2L	124044	broad.mit.edu	37	16	89764300	89764300	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:89764300G>A	uc002foj.2	-	3	782	c.717C>T	c.(715-717)GAC>GAT	p.D239D	SPATA2L_uc002fok.2_Intron	NM_152339	NP_689552	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	239											0		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		ACAGGCTGGCGTCCTCCGACC	0.682												
TUBB3	10381	broad.mit.edu	37	16	89986444	89986444	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:89986444C>T	uc002fpf.2	+	1	1186	c.778C>T	c.(778-780)CAT>TAT	p.H260Y	MC1R_uc002fpe.3_Missense_Mutation_p.H260Y|TUBB3_uc010ciz.1_5'Flank	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	Error:Variant_position_missing_in_Q13509_after_alignment					'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)		CTTCTTCCTGCATCTCACACT	0.587												
GEMIN4	50628	broad.mit.edu	37	17	650620	650620	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:650620G>A	uc002frs.1	-	2	782	c.663C>T	c.(661-663)CGC>CGT	p.R221R	GEMIN4_uc010vqa.1_Intron	NM_015721	NP_056536	P57678	GEMI4_HUMAN	gemin 4	221					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)		GTGTCAGCCCGCGGAGCAGCA	0.622												
SCARF1	8578	broad.mit.edu	37	17	1538704	1538704	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:1538704C>T	uc002fsz.1	-	11	1891	c.1841G>A	c.(1840-1842)CGA>CAA	p.R614Q	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Missense_Mutation_p.R528Q	NM_003693	NP_003684	Q14162	SREC_HUMAN	scavenger receptor class F, member 1 isoform 1	614	Pro/Ser-rich.|Cytoplasmic (Potential).				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTTGGGCTTTCGGAGCGGGCT	0.662												
SGSM2	9905	broad.mit.edu	37	17	2276761	2276761	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:2276761G>A	uc002fun.3	+	16	2094	c.1919G>A	c.(1918-1920)AGC>AAC	p.S640N	SGSM2_uc002fum.3_Missense_Mutation_p.S685N|SGSM2_uc010vqw.1_Missense_Mutation_p.S640N|SGSM2_uc002fuo.2_3'UTR|SGSM2_uc002fup.1_5'Flank|SGSM2_uc002fuq.2_5'Flank	NM_001098509	NP_001091979	O43147	SGSM2_HUMAN	RUN and TBC1 domain containing 1 isoform 2	640	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		AGCATCGACAGCCACGTGCAG	0.657												
OR1D4	8385	broad.mit.edu	37	17	2966259	2966259	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:2966259T>C	uc010vra.1	-	1	697	c.697A>G	c.(697-699)ACC>GCC	p.T233A		NM_003552	NP_003543			olfactory receptor, family 1, subfamily D,												0						TAGGATGTGGTCATGAACCCT	0.498												
SPNS3	201305	broad.mit.edu	37	17	4348354	4348354	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:4348354C>T	uc002fxt.2	+	3	337	c.293C>T	c.(292-294)GCA>GTA	p.A98V	SPNS3_uc002fxu.2_Intron	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3	98	Helical; (Potential).				lipid transport|transmembrane transport	integral to membrane				large_intestine(1)	1						CTGCTGTCTGCACCTGTGTTT	0.617												
PSMB6	5694	broad.mit.edu	37	17	4701657	4701657	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:4701657G>A	uc002fzb.2	+	6	693	c.660G>A	c.(658-660)CGG>CGA	p.R220R		NM_002798	NP_002789	P28072	PSB6_HUMAN	proteasome beta 6 subunit precursor	220					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			ovary(2)	2						GGGTAGAGCGGCAAGTACTTT	0.532												
KIF1C	10749	broad.mit.edu	37	17	4910366	4910366	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:4910366T>C	uc002gan.1	+	14	1648	c.1322T>C	c.(1321-1323)ATG>ACG	p.M441T		NM_006612	NP_006603	O43896	KIF1C_HUMAN	kinesin family member 1C	441	Potential.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			breast(2)	2						GAGGAAGCCATGGAGAGGCTG	0.567												
KIAA0753	9851	broad.mit.edu	37	17	6531749	6531749	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:6531749T>C	uc002gde.3	-	3	765	c.406A>G	c.(406-408)AAG>GAG	p.K136E	KIAA0753_uc010clo.2_5'UTR|KIAA0753_uc010vte.1_5'UTR	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	hypothetical protein LOC9851	136						centrosome					0				COAD - Colon adenocarcinoma(228;0.157)		ATTTTATACTTAGTATGTCCA	0.433												
TEKT1	83659	broad.mit.edu	37	17	6718526	6718526	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:6718526T>C	uc002gdt.2	-	5	695	c.585A>G	c.(583-585)TCA>TCG	p.S195S	TEKT1_uc010vth.1_Silent_p.S49S	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	tektin 1	195					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|skin(1)	2		Myeloproliferative disorder(207;0.0255)				TGATGTTTGGTGAGTTGTTGT	0.502												
C17orf81	23587	broad.mit.edu	37	17	7155822	7155822	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:7155822A>G	uc002gfg.1	+	2	108	c.1A>G	c.(1-3)ATG>GTG	p.M1V	DULLARD_uc002gfd.2_5'Flank|DULLARD_uc002gfe.2_5'Flank|DULLARD_uc002gff.2_5'Flank|DULLARD_uc002gfc.2_5'Flank|C17orf81_uc002gfj.2_Missense_Mutation_p.M1V|C17orf81_uc010cmb.2_Missense_Mutation_p.M1V|C17orf81_uc002gfh.1_Missense_Mutation_p.M1V|C17orf81_uc002gfi.1_Missense_Mutation_p.M1V|C17orf81_uc002gfk.1_Missense_Mutation_p.M1V|C17orf81_uc002gfl.1_Missense_Mutation_p.M1V	NM_203415	NP_981960	Q8TE02	DERP6_HUMAN	S-phase 2 protein isoform 4	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding				0						ACACTGGGTCATGACGCCATC	0.602												
C17orf74	201243	broad.mit.edu	37	17	7329644	7329644	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:7329644T>C	uc002ggw.2	+	3	407	c.334T>C	c.(334-336)TTC>CTC	p.F112L	FGF11_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	hypothetical protein LOC201243	112						integral to membrane					0		Prostate(122;0.157)				CTGCCACCATTTCTCCAACCA	0.438												
ZBTB4	57659	broad.mit.edu	37	17	7365271	7365271	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:7365271G>A	uc002ghc.3	-	4	3280	c.3030C>T	c.(3028-3030)GGC>GGT	p.G1010G	ZBTB4_uc002ghd.3_Silent_p.G1010G	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	1010					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		ACCCCACATCGCCCTTCTGGG	0.642												
DNAH2	146754	broad.mit.edu	37	17	7695578	7695578	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:7695578A>G	uc002giu.1	+	45	7076	c.7062A>G	c.(7060-7062)GTA>GTG	p.V2354V		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	2354					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGACACGGTATATGAGTATT	0.532												
DNAH2	146754	broad.mit.edu	37	17	7721318	7721318	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:7721318G>A	uc002giu.1	+	67	10305	c.10291G>A	c.(10291-10293)GCC>ACC	p.A3431T	DNAH2_uc010cnm.1_Missense_Mutation_p.A369T	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3431	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTAGAACACGCCATTCACTT	0.532												
KDM6B	23135	broad.mit.edu	37	17	7750893	7750893	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:7750893G>A	uc002giw.1	+	11	1663	c.1287G>A	c.(1285-1287)GCG>GCA	p.A429A	KDM6B_uc002gix.2_5'UTR	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	429	Pro-rich.				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						AAACTCCCGCGCTGGAGGTCT	0.537												
CHD3	1107	broad.mit.edu	37	17	7807305	7807305	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:7807305A>G	uc002gje.2	+	24	4040	c.3890A>G	c.(3889-3891)GAC>GGC	p.D1297G	CHD3_uc002gjd.2_Missense_Mutation_p.D1356G|CHD3_uc002gjf.2_Missense_Mutation_p.D1297G|CHD3_uc002gjh.2_5'UTR|SCARNA21_uc002gji.1_5'Flank	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1297					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				CGGGAAGAAGACAAGGTGAGA	0.527												
CHD3	1107	broad.mit.edu	37	17	7813856	7813856	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:7813856C>T	uc002gje.2	+	38	5851	c.5701C>T	c.(5701-5703)CGC>TGC	p.R1901C	CHD3_uc002gjd.2_Missense_Mutation_p.R1960C|CHD3_uc002gjf.2_Missense_Mutation_p.R1867C|CHD3_uc002gjh.2_Missense_Mutation_p.R478C|CHD3_uc002gjj.2_Missense_Mutation_p.R64C	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1901	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				GATGTCCGAGCGCAGCATCCT	0.642												
CCDC42	146849	broad.mit.edu	37	17	8638542	8638542	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:8638542C>T	uc002gln.2	-	6	972	c.745G>A	c.(745-747)GCA>ACA	p.A249T	CCDC42_uc002glo.2_Missense_Mutation_p.A175T	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42 isoform 1	249										ovary(1)	1						TTCTTGGCTGCGGTGTTCTGG	0.478												
MYH13	8735	broad.mit.edu	37	17	10265498	10265498	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:10265498G>A	uc002gmk.1	-	5	532	c.442C>T	c.(442-444)CGC>TGC	p.R148C		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	148	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						GCCTCCTGGCGCTTTTTGCCT	0.522												
TEKT3	64518	broad.mit.edu	37	17	15215749	15215749	+	Missense_Mutation	SNP	G	G	A	rs147750959	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:15215749G>A	uc002gon.2	-	7	1115	c.928C>T	c.(928-930)CGC>TGC	p.R310C		NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	tektin 3	310					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		CTCTGGGAGCGGAGAATATTG	0.458												
TBC1D26	353149	broad.mit.edu	37	17	15644464	15644464	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:15644464G>A	uc010cov.2	+	10	825	c.575G>A	c.(574-576)CGC>CAC	p.R192H	TBC1D26_uc002gpb.3_RNA	NM_178571	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	192	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		GACCTGAGCCGCATCACTGCC	0.592												
NCOR1	9611	broad.mit.edu	37	17	15961030	15961030	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:15961030C>T	uc002gpo.2	-	40	6430	c.6190G>A	c.(6190-6192)GCT>ACT	p.A2064T	NCOR1_uc002gpn.2_Missense_Mutation_p.A1961T|NCOR1_uc002gpl.2_Missense_Mutation_p.A79T|NCOR1_uc002gpm.2_Missense_Mutation_p.A584T|NCOR1_uc010vwb.1_Missense_Mutation_p.A648T|NCOR1_uc010coy.2_Missense_Mutation_p.A972T|NCOR1_uc010vwc.1_Missense_Mutation_p.A874T	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	2064	Interaction with C1D (By similarity).|ID1 (By similarity).				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)		TGATTTCTAGCAAAATCTTGT	0.368												
RAI1	10743	broad.mit.edu	37	17	17698552	17698552	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:17698552G>T	uc002grm.2	+	3	2759	c.2290G>T	c.(2290-2292)GAG>TAG	p.E764*	RAI1_uc002grn.1_Nonsense_Mutation_p.E764*	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	764						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		GCACCCTGGCGAGCTTACCAA	0.642												
FLII	2314	broad.mit.edu	37	17	18148464	18148464	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:18148464C>A	uc002gsr.1	-	30	3849	c.3798G>T	c.(3796-3798)AAG>AAT	p.K1266N	FLII_uc002gsq.1_Missense_Mutation_p.K1137N|FLII_uc010cpy.1_Missense_Mutation_p.K1255N|FLII_uc010vxn.1_Missense_Mutation_p.K1235N|FLII_uc010vxo.1_Missense_Mutation_p.K1211N	NM_002018	NP_002009	Q13045	FLII_HUMAN	flightless I homolog	1266					multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(1)|skin(1)	2	all_neural(463;0.228)					AGGCCAGGGCCTTGCAGAAGG	0.632												
PRPSAP2	5636	broad.mit.edu	37	17	18833976	18833976	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:18833976T>C	uc002gup.1	+	12	1286	c.1075T>C	c.(1075-1077)TCC>CCC	p.S359P	PRPSAP2_uc002guo.1_Missense_Mutation_p.S273P|PRPSAP2_uc010vyi.1_Missense_Mutation_p.S307P|PRPSAP2_uc010vyj.1_Missense_Mutation_p.S273P|PRPSAP2_uc010vyk.1_Missense_Mutation_p.S298P|PRPSAP2_uc002guq.1_Missense_Mutation_p.S146P	NM_002767	NP_002758	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate	359					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			skin(1)	1						GGAGTCCATGTCCTACCTTTT	0.478												
NOS2	4843	broad.mit.edu	37	17	26105782	26105782	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:26105782C>T	uc002gzu.2	-	11	1479	c.1215G>A	c.(1213-1215)AAG>AAA	p.K405K	NOS2_uc010crh.1_Silent_p.K405K|NOS2_uc010wab.1_Silent_p.K405K	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	405					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GCGAGGCCAGCTTGTGCGTTT	0.547												
SPAG5	10615	broad.mit.edu	37	17	26911493	26911493	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:26911493G>A	uc002hbq.2	-	12	2259	c.2167C>T	c.(2167-2169)CGG>TGG	p.R723W	SGK494_uc010waq.1_Intron	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	723	Gln-rich.				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			central_nervous_system(1)	1	Lung NSC(42;0.00431)					AACTGAGCCCGGAGATCTAGA	0.498												
SGK494	124923	broad.mit.edu	37	17	26940691	26940691	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:26940691G>A	uc002hbr.1	-	2	123	c.91C>T	c.(91-93)CGG>TGG	p.R31W	SGK494_uc010waq.1_Missense_Mutation_p.R31W|SGK494_uc010war.1_RNA|uc010crq.1_5'Flank|uc002hbs.1_Intron	NM_144610	NP_653211			uncharacterized serine/threonine-protein kinase												0						CAGGGACCCCGGATGTTGCCA	0.572											OREG0024279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MYO18A	399687	broad.mit.edu	37	17	27424848	27424848	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:27424848G>A	uc002hdt.1	-	26	4218	c.4060C>T	c.(4060-4062)CGG>TGG	p.R1354W	MYO18A_uc010wbc.1_Missense_Mutation_p.R896W|MYO18A_uc002hds.2_Missense_Mutation_p.R896W|MYO18A_uc010csa.1_Missense_Mutation_p.R1354W|MYO18A_uc002hdu.1_Missense_Mutation_p.R1354W|MYO18A_uc010wbd.1_Missense_Mutation_p.R1023W	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	1354	Potential.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TCCGCTGCCCGGATGAGACGG	0.592												
SSH2	85464	broad.mit.edu	37	17	27963595	27963595	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:27963595T>C	uc002heo.1	-	14	1572	c.1572A>G	c.(1570-1572)AAA>AAG	p.K524K	SSH2_uc010wbh.1_Silent_p.K551K	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	524					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(2)	2						TCATTCTTTCTTTGGTACACA	0.433												
SLC6A4	6532	broad.mit.edu	37	17	28545192	28545192	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:28545192G>A	uc002hey.3	-	5	1186	c.642C>T	c.(640-642)TCC>TCT	p.S214S		NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	214	Extracellular (Potential).				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			skin(3)|ovary(1)	4					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	TGTTGTCCTCGGAGAAGTAAT	0.557												
CPD	1362	broad.mit.edu	37	17	28791624	28791624	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:28791624T>C	uc002hfb.1	+	21	3950	c.3935T>C	c.(3934-3936)TTG>TCG	p.L1312S	CPD_uc010wbo.1_Missense_Mutation_p.L1065S|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	1312	Helical; (Potential).				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						ATGTCGGCATTGATCCTAACA	0.388												
RAB11FIP4	84440	broad.mit.edu	37	17	29848367	29848367	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:29848367G>A	uc002hgn.1	+	5	976	c.747G>A	c.(745-747)TCG>TCA	p.S249S	RAB11FIP4_uc002hgo.2_Silent_p.S147S	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	249	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			skin(1)	1		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				TGGGGTCTTCGGTGTCTTCCA	0.582												
AP2B1	163	broad.mit.edu	37	17	33954489	33954489	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:33954489A>G	uc002hjr.2	+	8	1213	c.1024A>G	c.(1024-1026)ATG>GTG	p.M342V	AP2B1_uc002hjq.2_Missense_Mutation_p.M342V|AP2B1_uc010wci.1_Missense_Mutation_p.M304V|AP2B1_uc002hjs.2_Missense_Mutation_p.M285V|AP2B1_uc002hjt.2_Missense_Mutation_p.M342V|AP2B1_uc010ctv.2_Missense_Mutation_p.M342V|AP2B1_uc010wcj.1_Missense_Mutation_p.M79V	NM_001282	NP_001273	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1	342					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)		GTTGGACATCATGATTCGTTT	0.403												
MMP28	79148	broad.mit.edu	37	17	34106043	34106043	+	Silent	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:34106043G>T	uc002hjy.1	-	3	487	c.228C>A	c.(226-228)GGC>GGA	p.G76G	MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA|MMP28_uc002hka.2_Silent_p.G76G	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	matrix metalloproteinase 28 isoform 1	76					proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGTCCAACACGCCGCTGACAG	0.617												
ACACA	31	broad.mit.edu	37	17	35580491	35580491	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:35580491T>A	uc002hnm.2	-	28	3586	c.3395A>T	c.(3394-3396)GAT>GTT	p.D1132V	ACACA_uc002hnk.2_Missense_Mutation_p.D1054V|ACACA_uc002hnl.2_Missense_Mutation_p.D1074V|ACACA_uc002hnn.2_Missense_Mutation_p.D1132V|ACACA_uc002hno.2_Missense_Mutation_p.D1169V|ACACA_uc010cuz.2_Missense_Mutation_p.D1132V	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	1132					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGGTAGGACATCAAAAATAGA	0.383												
SRCIN1	80725	broad.mit.edu	37	17	36720452	36720452	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:36720452G>A	uc002hqd.2	-	4	668	c.443C>T	c.(442-444)TCG>TTG	p.S148L	SRCIN1_uc002hqf.1_5'Flank|SRCIN1_uc002hqe.2_Missense_Mutation_p.S2L|SRCIN1_uc002hqh.1_Missense_Mutation_p.S208L	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	SNAP25-interacting protein	Error:Variant_position_missing_in_Q9C0H9_after_alignment					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding				0						CTCGGCCTCCGACATGGTCTC	0.692												
GRB7	2886	broad.mit.edu	37	17	37902041	37902041	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:37902041G>A	uc002hsr.2	+	12	1520	c.1270G>A	c.(1270-1272)GCC>ACC	p.A424T	GRB7_uc002hss.2_Missense_Mutation_p.A424T|GRB7_uc010cwc.2_Missense_Mutation_p.A424T|GRB7_uc002hst.2_Missense_Mutation_p.A424T	NM_005310	NP_005301	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	424					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			lung(2)|ovary(1)|breast(1)|skin(1)	5	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCTCAGTGCAGGTGGGTGACG	0.632												
GSDMA	284110	broad.mit.edu	37	17	38133118	38133118	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:38133118T>C	uc002htl.1	+	12	1263	c.1145T>C	c.(1144-1146)TTC>TCC	p.F382S	GSDMA_uc002htm.1_Missense_Mutation_p.F382S	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	gasdermin 1	382					apoptosis|induction of apoptosis	perinuclear region of cytoplasm					0						GAGGGTGTTTTCCCCCTGCAA	0.557												
CCR7	1236	broad.mit.edu	37	17	38711960	38711960	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:38711960T>C	uc002huw.2	-	3	234	c.171A>G	c.(169-171)AAA>AAG	p.K57K		NM_001838	NP_001829	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7 precursor	57	Extracellular (Potential).				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)	1		Breast(137;0.000496)				GGAACCAGGCTTTAAAGTTCC	0.483												
SMARCE1	6605	broad.mit.edu	37	17	38792670	38792670	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:38792670A>C	uc002hux.2	-	6	470	c.346T>G	c.(346-348)TTA>GTA	p.L116V	SMARCE1_uc010wff.1_Missense_Mutation_p.L81V|SMARCE1_uc010wfg.1_Missense_Mutation_p.L46V|SMARCE1_uc002huy.2_Missense_Mutation_p.L81V|SMARCE1_uc010wfh.1_Missense_Mutation_p.L46V|SMARCE1_uc010wfi.1_Missense_Mutation_p.L98V|SMARCE1_uc002huz.1_Missense_Mutation_p.L81V|SMARCE1_uc010wfj.1_Missense_Mutation_p.L98V	NM_003079	NP_003070	Q969G3	SMCE1_HUMAN	SWI/SNF-related matrix-associated	116	HMG box.				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity				0		Breast(137;0.000812)				TATTCGTTTAAATATTCTTGT	0.388												
KRT28	162605	broad.mit.edu	37	17	38953225	38953225	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:38953225G>A	uc002hvh.1	-	5	987	c.921C>T	c.(919-921)ACC>ACT	p.T307T		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	keratin 25D	307	Rod.|Coil 2.					cytoplasm|intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				GCCTCATCTCGGTGAGCTGGC	0.617												
KRT23	25984	broad.mit.edu	37	17	39092710	39092710	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:39092710G>A	uc002hvm.1	-	2	735	c.146C>T	c.(145-147)ACG>ATG	p.T49M	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Missense_Mutation_p.T49M|KRT23_uc002hvn.1_Missense_Mutation_p.T49M	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	keratin 23	49	Head.					intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)				GCAGCTCCGCGTGGTGAAGGA	0.687												
KRTAP1-1	81851	broad.mit.edu	37	17	39197586	39197586	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:39197586A>G	uc002hvw.1	-	1	128	c.64T>C	c.(64-66)TCC>CCC	p.S22P		NM_030967	NP_112229	Q07627	KRA11_HUMAN	keratin associated protein 1-1	22			Missing (in allele KAP1.7).|PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6).			extracellular region|keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGCAGCTGGAGCCGCAGGTC	0.612												
KRT32	3882	broad.mit.edu	37	17	39622023	39622023	+	Splice_Site	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:39622023A>G	uc002hwr.2	-	3	769	c.708_splice	c.e3+1	p.E236_splice		NM_002278	NP_002269	Q14532	K1H2_HUMAN	keratin 32						epidermis development	intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000812)				TTCCAGCCTCACCTCCTCATG	0.403												
KRT9	3857	broad.mit.edu	37	17	39723536	39723536	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:39723536A>G	uc002hxe.3	-	7	1927	c.1861T>C	c.(1861-1863)TCC>CCC	p.S621P	JUP_uc010wfs.1_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	keratin 9	621	Tail.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Breast(137;0.000307)				TAGGAATGGGATGATTTtccg	0.239												
CNP	1267	broad.mit.edu	37	17	40120397	40120397	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:40120397G>A	uc002hyl.1	+	2	459	c.315G>A	c.(313-315)GAG>GAA	p.E105E	CNP_uc002hyk.1_Silent_p.E105E|CNP_uc010wfz.1_Intron|CNP_uc002hym.1_Silent_p.E85E|CNP_uc010wga.1_Intron	NM_033133	NP_149124	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	105					cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding				0		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		GGCTCGATGAGGACCTGGCTG	0.592												
KCNH4	23415	broad.mit.edu	37	17	40312256	40312256	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:40312256C>T	uc002hzb.2	-	16	3189	c.2856G>A	c.(2854-2856)ACG>ACA	p.T952T		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H,	952	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			large_intestine(1)	1		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTTCAGCAAGCGTAGTATCCT	0.617												
WNK4	65266	broad.mit.edu	37	17	40948272	40948272	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:40948272G>A	uc002ibj.2	+	17	3584	c.3563G>A	c.(3562-3564)CGC>CAC	p.R1188H	WNK4_uc010wgx.1_Missense_Mutation_p.R852H|CCDC56_uc010wgz.1_Intron|CNTD1_uc002ibm.3_5'Flank|CNTD1_uc010wha.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1188					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CGCCAGCGCCGCCTCTCCAAG	0.612												
DHX8	1659	broad.mit.edu	37	17	41585055	41585055	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:41585055A>G	uc002idu.1	+	14	2181	c.2108A>G	c.(2107-2109)AAG>AGG	p.K703R	DHX8_uc010wif.1_Missense_Mutation_p.K612R|DHX8_uc010wig.1_Missense_Mutation_p.K703R	NM_004941	NP_004932	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	703	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|pancreas(1)	4		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TTGTTGAAAAAGGTAACTAGA	0.448												
MPP2	4355	broad.mit.edu	37	17	41960294	41960294	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:41960294G>A	uc010wip.1	-	5	622	c.565C>T	c.(565-567)CGC>TGC	p.R189C	MPP2_uc002ien.1_Missense_Mutation_p.R161C|MPP2_uc010wim.1_Missense_Mutation_p.R133C|MPP2_uc002ieo.1_Missense_Mutation_p.R144C|MPP2_uc010win.1_Missense_Mutation_p.R5C|MPP2_uc010wio.1_Missense_Mutation_p.R133C|MPP2_uc010czm.1_Missense_Mutation_p.R127C	NM_005374	NP_005365	Q14168	MPP2_HUMAN	palmitoylated membrane protein 2	168					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)		GCTGTCTTGCGGATGCCCACC	0.592												
ITGA2B	3674	broad.mit.edu	37	17	42461924	42461924	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:42461924C>T	uc002igt.1	-	8	861	c.829G>A	c.(829-831)GGG>AGG	p.G277R		NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	277	Potential.|Extracellular (Potential).|FG-GAP 4.				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	TTGAGATCCCCGTCGAACTCG	0.562												
ADAM11	4185	broad.mit.edu	37	17	42837183	42837183	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:42837183G>A	uc002ihh.2	+	2	155	c.155G>A	c.(154-156)CGT>CAT	p.R52H	ADAM11_uc010wjd.1_5'UTR	NM_002390	NP_002381	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11 preproprotein	52					integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			pancreas(1)	1		Prostate(33;0.0959)				GAACCCAGCCGTCTGGTTAGG	0.692												
ADAM11	4185	broad.mit.edu	37	17	42855087	42855087	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:42855087C>T	uc002ihh.2	+	23	1926	c.1926C>T	c.(1924-1926)GAC>GAT	p.D642D	ADAM11_uc010wjd.1_Silent_p.D442D|ADAM11_uc002ihi.2_Translation_Start_Site	NM_002390	NP_002381	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11 preproprotein	642	Cys-rich.|Extracellular (Potential).				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			pancreas(1)	1		Prostate(33;0.0959)				AGCTGGCGGACGGCTCTGACC	0.632												
MAP3K14	9020	broad.mit.edu	37	17	43345039	43345039	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:43345039T>C	uc002iiw.1	-	13	2169	c.2060A>G	c.(2059-2061)CAT>CGT	p.H687R	LOC100133991_uc010dah.2_Intron|LOC100133991_uc002iit.3_Intron|LOC100133991_uc010dai.2_Intron|MAP3K14_uc002iiu.1_Missense_Mutation_p.H217R|MAP3K14_uc010daj.1_RNA|MAP3K14_uc002iiv.1_Missense_Mutation_p.H271R	NM_003954	NP_003945	Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase	687					cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1)	8						CGGCTGGGCATGGAGGGTCTG	0.587												
SP2	6668	broad.mit.edu	37	17	45993853	45993853	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:45993853A>G	uc002imk.2	+	3	553	c.416A>G	c.(415-417)CAG>CGG	p.Q139R	SP2_uc002iml.2_Missense_Mutation_p.Q132R|uc002imm.2_Intron	NM_003110	NP_003101	Q02086	SP2_HUMAN	Sp2 transcription factor	139					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding				0						CCTCAGATTCAGGCAAGCAAT	0.542												
SP2	6668	broad.mit.edu	37	17	46002400	46002400	+	Silent	SNP	C	C	T	rs138122841		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:46002400C>T	uc002imk.2	+	5	1625	c.1488C>T	c.(1486-1488)CCC>CCT	p.P496P	SP2_uc002iml.2_Silent_p.P489P	NM_003110	NP_003101	Q02086	SP2_HUMAN	Sp2 transcription factor	496					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding				0						AGACCCAGCCCGGGGAGAAGC	0.607												
LRRC59	55379	broad.mit.edu	37	17	48472334	48472334	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:48472334C>T	uc002iqt.2	-	2	275	c.121G>A	c.(121-123)GCC>ACC	p.A41T		NM_018509	NP_060979	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	41	Cytoplasmic (Potential).|LRR 2.					endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding			central_nervous_system(1)	1	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			AGGATGGTGGCCTTTGGAAGG	0.453												
SPATA20	64847	broad.mit.edu	37	17	48632944	48632944	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:48632944C>T	uc002irf.2	+	16	2423	c.2282C>T	c.(2281-2283)ACT>ATT	p.T761I	SPATA20_uc002irc.2_Missense_Mutation_p.T428I|SPATA20_uc002ire.2_Missense_Mutation_p.T717I|SPATA20_uc002ird.2_Missense_Mutation_p.T777I|SPATA20_uc002irg.2_RNA	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	761					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)			GACCAGGCCACTGCATATGTG	0.572												
CACNA1G	8913	broad.mit.edu	37	17	48692826	48692826	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:48692826G>A	uc002irk.1	+	27	5236	c.4864G>A	c.(4864-4866)GGG>AGG	p.G1622R	CACNA1G_uc002irj.1_Missense_Mutation_p.G1588R|CACNA1G_uc002irl.1_Missense_Mutation_p.G1599R|CACNA1G_uc002irm.1_Missense_Mutation_p.G1588R|CACNA1G_uc002irn.1_Missense_Mutation_p.G1581R|CACNA1G_uc002iro.1_Missense_Mutation_p.G1588R|CACNA1G_uc002irp.1_Missense_Mutation_p.G1622R|CACNA1G_uc002irq.1_Missense_Mutation_p.G1599R|CACNA1G_uc002irr.1_Missense_Mutation_p.G1622R|CACNA1G_uc002irs.1_Missense_Mutation_p.G1611R|CACNA1G_uc002irt.1_Missense_Mutation_p.G1604R|CACNA1G_uc002irv.1_Missense_Mutation_p.G1611R|CACNA1G_uc002irw.1_Missense_Mutation_p.G1599R|CACNA1G_uc002iru.1_Missense_Mutation_p.G1588R|CACNA1G_uc002irx.1_Missense_Mutation_p.G1535R|CACNA1G_uc002iry.1_Missense_Mutation_p.G1524R|CACNA1G_uc002irz.1_Missense_Mutation_p.G1535R|CACNA1G_uc002isa.1_Missense_Mutation_p.G1501R|CACNA1G_uc002isb.1_Missense_Mutation_p.G1542R|CACNA1G_uc002isc.1_Missense_Mutation_p.G1524R|CACNA1G_uc002isd.1_Missense_Mutation_p.G1517R|CACNA1G_uc002ise.1_Missense_Mutation_p.G1490R|CACNA1G_uc002isf.1_Missense_Mutation_p.G1517R|CACNA1G_uc002isg.1_Missense_Mutation_p.G1483R|CACNA1G_uc002ish.1_Missense_Mutation_p.G1490R|CACNA1G_uc002isi.1_Missense_Mutation_p.G1478R	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1622	IV.|Helical; Name=S1 of repeat IV; (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGGTGTCATCGGGCTGAACGT	0.612												
CACNA1G	8913	broad.mit.edu	37	17	48703460	48703460	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:48703460C>T	uc002irk.1	+	38	6854	c.6482C>T	c.(6481-6483)CCG>CTG	p.P2161L	CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Missense_Mutation_p.P2045L|CACNA1G_uc002irm.1_Missense_Mutation_p.P2082L|CACNA1G_uc002irn.1_Missense_Mutation_p.P2027L|CACNA1G_uc002iro.1_Missense_Mutation_p.P2034L|CACNA1G_uc002irp.1_Missense_Mutation_p.P2116L|CACNA1G_uc002irq.1_Missense_Mutation_p.P2138L|CACNA1G_uc002irr.1_Missense_Mutation_p.P2068L|CACNA1G_uc002irs.1_Missense_Mutation_p.P2105L|CACNA1G_uc002irt.1_Missense_Mutation_p.P2050L|CACNA1G_uc002irv.1_Missense_Mutation_p.P2057L|CACNA1G_uc002irw.1_Missense_Mutation_p.P2090L|CACNA1G_uc002iru.1_Missense_Mutation_p.P2127L|CACNA1G_uc002irx.1_Intron|CACNA1G_uc002iry.1_Intron|CACNA1G_uc002irz.1_Missense_Mutation_p.P1974L|CACNA1G_uc002isa.1_Missense_Mutation_p.P1947L|CACNA1G_uc002isb.1_Missense_Mutation_p.P1988L|CACNA1G_uc002isc.1_Missense_Mutation_p.P2063L|CACNA1G_uc002isd.1_Missense_Mutation_p.P1956L|CACNA1G_uc002ise.1_Missense_Mutation_p.P1984L|CACNA1G_uc002isf.1_Missense_Mutation_p.P2011L|CACNA1G_uc002isg.1_Missense_Mutation_p.P1929L|CACNA1G_uc002ish.1_Missense_Mutation_p.P1936L|CACNA1G_uc002isi.1_Missense_Mutation_p.P1924L	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	2161	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGCCCTCCCCGCCCCTGGCC	0.642											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LUC7L3	51747	broad.mit.edu	37	17	48822104	48822104	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:48822104T>C	uc002isr.2	+	7	740	c.623T>C	c.(622-624)GTA>GCA	p.V208A	LUC7L3_uc002isp.1_Missense_Mutation_p.V132A|LUC7L3_uc010wmw.1_Missense_Mutation_p.V132A|LUC7L3_uc002isq.2_Missense_Mutation_p.V208A|LUC7L3_uc002iss.2_Missense_Mutation_p.V208A	NM_006107	NP_006098	O95232	LC7L3_HUMAN	LUC7-like 3	208					apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding				0						CAGTCCCGGGTAGATGACCAT	0.328												
KIF2B	84643	broad.mit.edu	37	17	51902173	51902173	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:51902173A>C	uc002iua.2	+	1	1935	c.1779A>C	c.(1777-1779)AAA>AAC	p.K593N	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	593					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						AGGAGCAGAAAGAGATTGAAG	0.418												
STXBP4	252983	broad.mit.edu	37	17	53077036	53077036	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:53077036G>A	uc002iuf.1	+	6	538	c.331G>A	c.(331-333)GAC>AAC	p.D111N	STXBP4_uc010dcc.1_Missense_Mutation_p.D36N|STXBP4_uc010dcd.1_Missense_Mutation_p.D111N	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	111						cytoplasm	calcium ion binding			ovary(1)	1						ACAAAAATCCGACAACATTCA	0.353												
BZRAP1	9256	broad.mit.edu	37	17	56389881	56389881	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:56389881A>G	uc002ivx.3	-	17	3172	c.2301T>C	c.(2299-2301)CCT>CCC	p.P767P	BZRAP1_uc010dcs.2_Silent_p.P707P|BZRAP1_uc010wnt.1_Silent_p.P767P	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	767						mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTCCTCCTCAGGTCTGGGCT	0.657												
BZRAP1	9256	broad.mit.edu	37	17	56389972	56389972	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:56389972C>G	uc002ivx.3	-	17	3081	c.2210G>C	c.(2209-2211)AGC>ACC	p.S737T	BZRAP1_uc010dcs.2_Missense_Mutation_p.S677T|BZRAP1_uc010wnt.1_Missense_Mutation_p.S737T	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	737						mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGGCCTGAGCTGTGGGACAA	0.612												
SUPT4H1	6827	broad.mit.edu	37	17	56424934	56424934	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:56424934A>G	uc002iwe.1	-	3	255	c.188T>C	c.(187-189)ATG>ACG	p.M63T	uc010dct.1_Intron|uc010dcu.1_Intron|uc002ivz.2_Intron|uc010dcv.1_Intron|uc002iwa.2_Intron|uc002iwb.2_Intron|uc002iwc.2_Intron|SUPT4H1_uc002iwd.1_RNA	NM_003168	NP_003159	P63272	SPT4H_HUMAN	suppressor of Ty 4 homolog 1	63					chromatin remodeling|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGACTCATCATCGCAATGAT	0.498												
TLK2	11011	broad.mit.edu	37	17	60657500	60657500	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:60657500A>G	uc010ddp.2	+	16	1649	c.1381A>G	c.(1381-1383)AGA>GGA	p.R461G	TLK2_uc002izx.3_Missense_Mutation_p.R287G|TLK2_uc002izz.3_Missense_Mutation_p.R439G|TLK2_uc002jaa.3_Missense_Mutation_p.R407G|TLK2_uc010wpd.1_Missense_Mutation_p.R407G	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	tousled-like kinase 2 isoform A	461					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|kidney(1)	2						GCTAAATGACAGATATTTGTT	0.403												
SMURF2	64750	broad.mit.edu	37	17	62551006	62551006	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:62551006A>G	uc002jep.1	-	15	2104	c.1716T>C	c.(1714-1716)CCT>CCC	p.P572P	SMURF2_uc002jeq.1_Silent_p.P331P|SMURF2_uc002jer.1_Silent_p.P331P	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	572	HECT.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			skin(3)|lung(1)	4	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			CTTCATTAACAGGGATACTTT	0.313												
CCDC46	201134	broad.mit.edu	37	17	64049989	64049989	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:64049989A>G	uc002jfl.2	-	12	1302	c.1083T>C	c.(1081-1083)AAT>AAC	p.N361N	CCDC46_uc010deo.2_Silent_p.N103N|CCDC46_uc002jfm.2_Silent_p.N361N|CCDC46_uc010dep.2_Silent_p.N319N	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	coiled-coil domain containing 46 isoform a	361	Potential.					centrosome					0			BRCA - Breast invasive adenocarcinoma(6;1.53e-06)			CTGCTACAGCATTGTGAAGCT	0.338												
BPTF	2186	broad.mit.edu	37	17	65888143	65888143	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:65888143G>A	uc002jgf.2	+	5	2109	c.2048G>A	c.(2047-2049)GGC>GAC	p.G683D	BPTF_uc002jge.2_Missense_Mutation_p.G809D|BPTF_uc010wqm.1_Missense_Mutation_p.G746D	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	809					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTAAGGAGGGCAAAGAGGTG	0.388												
ABCA9	10350	broad.mit.edu	37	17	66982372	66982372	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:66982372G>A	uc002jhu.2	-	32	4284	c.4141C>T	c.(4141-4143)CAG>TAG	p.Q1381*	ABCA9_uc010dez.2_Nonsense_Mutation_p.Q1343*	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	1381	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)					TCCAGGTGCTGCCTCACTGTC	0.607												
ABCA10	10349	broad.mit.edu	37	17	67170783	67170783	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:67170783C>A	uc010dfa.1	-	25	3892	c.3013G>T	c.(3013-3015)GGA>TGA	p.G1005*	ABCA10_uc010wqs.1_Intron|ABCA10_uc010wqt.1_RNA	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	1005	Helical; (Potential).				transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					AGCTGGAATCCCAGAAATATG	0.343												
ABCA10	10349	broad.mit.edu	37	17	67210857	67210857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:67210857G>A	uc010dfa.1	-	10	1873	c.994C>T	c.(994-996)CGA>TGA	p.R332*	ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_5'UTR|ABCA10_uc010dfc.1_Nonsense_Mutation_p.R224*	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	332					transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					GGTAAAACTCGCTCAAAATAT	0.279												
SLC39A11	201266	broad.mit.edu	37	17	70943934	70943934	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:70943934A>G	uc002jjb.2	-	5	502	c.387T>C	c.(385-387)GGT>GGC	p.G129G	SLC39A11_uc002jja.2_Silent_p.G129G|SLC39A11_uc002jjc.1_Silent_p.G129G	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11 isoform 1	129					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)	1						GCAGCGCGGGACCCTCAGGAT	0.547												
CDC42EP4	23580	broad.mit.edu	37	17	71281599	71281599	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:71281599A>G	uc002jjn.2	-	2	1188	c.1041T>C	c.(1039-1041)GAT>GAC	p.D347D	CDC42EP4_uc002jjo.2_Silent_p.D347D|CDC42EP4_uc002jjp.1_Silent_p.D277D	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Cdc42 effector protein 4	347					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding				0			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CCTCCTCCTCATCCATGAAGG	0.637												
SDK2	54549	broad.mit.edu	37	17	71398134	71398134	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:71398134G>A	uc010dfm.2	-	19	2631	c.2631C>T	c.(2629-2631)CCC>CCT	p.P877P	SDK2_uc002jjt.3_Silent_p.P36P|SDK2_uc010dfn.2_Silent_p.P556P	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	877	Fibronectin type-III 3.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)	2						GCCCGTCCCCGGGGGTGGTGA	0.657												
OTOP3	347741	broad.mit.edu	37	17	72945440	72945440	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:72945440G>A	uc010wrr.1	+	7	1720	c.1720G>A	c.(1720-1722)GGC>AGC	p.G574S	OTOP3_uc010wrq.1_Missense_Mutation_p.G556S	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	otopetrin 3	574	Helical; (Potential).					integral to membrane|intracellular	zinc ion binding			ovary(1)	1	all_lung(278;0.151)|Lung NSC(278;0.185)					CGTCAACTTCGGCCTGCCTCT	0.592												
LLGL2	3993	broad.mit.edu	37	17	73568034	73568034	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:73568034C>T	uc002joh.2	+	19	2503	c.2349C>T	c.(2347-2349)GAC>GAT	p.D783D	LLGL2_uc002joi.2_Silent_p.D783D|LLGL2_uc010dgg.1_Silent_p.D783D|LLGL2_uc002joj.2_Silent_p.D772D|LLGL2_uc010wsd.1_Silent_p.D410D	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	783	WD 12.				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)			TGGTGCTCGACGGACACAGCG	0.657												
ITGB4	3691	broad.mit.edu	37	17	73747158	73747158	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:73747158C>T	uc002jpg.2	+	30	3946	c.3759C>T	c.(3757-3759)TAC>TAT	p.Y1253Y	ITGB4_uc002jph.2_Silent_p.Y1253Y|ITGB4_uc002jpi.3_Silent_p.Y1253Y|ITGB4_uc002jpj.2_Silent_p.Y1253Y	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	1253	Fibronectin type-III 2.|Cytoplasmic (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)			TCACAGCCTACGAGGTCTGCT	0.597												
FBF1	85302	broad.mit.edu	37	17	73916363	73916363	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:73916363C>T	uc002jqc.2	-	17	2051	c.1777G>A	c.(1777-1779)GAG>AAG	p.E593K	FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Missense_Mutation_p.E584K|FBF1_uc002jqd.1_Missense_Mutation_p.E594K|FBF1_uc002jqb.2_5'Flank|FBF1_uc010dgr.1_5'UTR	NM_001080542	NP_001074011	Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	593											0						ACCTGGGCCTCCAGCTCTGCC	0.667												
ACOX1	51	broad.mit.edu	37	17	73946860	73946860	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:73946860C>T	uc002jqf.2	-	9	1583	c.1293G>A	c.(1291-1293)ACG>ACA	p.T431T	ACOX1_uc010wsq.1_Silent_p.T393T|ACOX1_uc002jqe.2_Silent_p.T431T|ACOX1_uc010wsr.1_Silent_p.T363T	NM_007292	NP_009223	Q15067	ACOX1_HUMAN	acyl-Coenzyme A oxidase 1 isoform b	431					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			ovary(1)	1						CTCACCTAGCCGTCTGGAGCA	0.433												
EVPL	2125	broad.mit.edu	37	17	74005245	74005245	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:74005245C>T	uc002jqi.2	-	22	4269	c.4041G>A	c.(4039-4041)GCG>GCA	p.A1347A	EVPL_uc010wss.1_Silent_p.A1369A|EVPL_uc010wst.1_Silent_p.A817A	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1347	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						CCGCGTCCTCCGCGGCCCGCC	0.682												
EVPL	2125	broad.mit.edu	37	17	74011054	74011054	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:74011054C>T	uc002jqi.2	-	17	2393	c.2165G>A	c.(2164-2166)CGC>CAC	p.R722H	EVPL_uc010wss.1_Missense_Mutation_p.R744H|EVPL_uc010wst.1_Missense_Mutation_p.R192H	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	722	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						TCGCACCTGGCGCTGCTGGCG	0.667												
QRICH2	84074	broad.mit.edu	37	17	74278023	74278023	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:74278023C>T	uc002jrd.1	-	8	3867	c.3687G>A	c.(3685-3687)CGG>CGA	p.R1229R	QRICH2_uc010wsz.1_Silent_p.R1155R|QRICH2_uc010dgw.1_Silent_p.R73R	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1229							protein binding			ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						GCTCATAGCGCCGCACCAGCG	0.642												
SPHK1	8877	broad.mit.edu	37	17	74382513	74382513	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:74382513G>A	uc002jrf.1	+	7	1107	c.298G>A	c.(298-300)GCC>ACC	p.A100T	SPHK1_uc002jrg.1_Missense_Mutation_p.A49T|SPHK1_uc002jrh.2_Missense_Mutation_p.A114T|SPHK1_uc002jrj.2_Missense_Mutation_p.A186T|SPHK1_uc002jri.2_Missense_Mutation_p.A100T|SPHK1_uc002jrk.3_Missense_Mutation_p.A100T	NM_001142602	NP_001136074	Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1 isoform 3	100	DAGKc.				'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity			kidney(1)	1						CTGGGAGACCGCCATCCAGAA	0.657											OREG0024750	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ST6GALNAC2	10610	broad.mit.edu	37	17	74566696	74566696	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:74566696A>T	uc002jsg.3	-	6	979	c.724T>A	c.(724-726)TCG>ACG	p.S242T		NM_006456	NP_006447	Q9UJ37	SIA7B_HUMAN	sialyltransferase 7B	242	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity				0						AGAATGGCCGATCTCAGCATC	0.582												
SEPT9	10801	broad.mit.edu	37	17	75398265	75398265	+	Silent	SNP	C	C	T	rs61744333		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:75398265C>T	uc002jts.3	+	3	327	c.201C>T	c.(199-201)GGC>GGT	p.G67G	SEPT9_uc010wtk.1_Silent_p.G48G|SEPT9_uc002jtt.3_5'UTR|SEPT9_uc002jtu.3_Silent_p.G49G|SEPT9_uc002jtv.2_Silent_p.G60G|SEPT9_uc002jtw.2_5'UTR|SEPT9_uc002jtx.1_5'UTR|SEPT9_uc010wtl.1_5'Flank	NM_001113491	NP_001106963	Q9UHD8	SEPT9_HUMAN	septin 9 isoform a	67					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding|protein binding			breast(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(99;0.153)			AGGACCTGGGCGTGAAGAACT	0.667												
TNRC6C	57690	broad.mit.edu	37	17	76089061	76089061	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:76089061A>G	uc002jud.2	+	16	4618	c.4018A>G	c.(4018-4020)ATT>GTT	p.I1340V	TNRC6C_uc002juf.2_Missense_Mutation_p.I1337V	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	1340					gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TAAGTCCTCCATTGATGACTC	0.507												
DNAH17	8632	broad.mit.edu	37	17	76548815	76548815	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:76548815A>G	uc002jvv.1	-	11	1463	c.1357T>C	c.(1357-1359)TTG>CTG	p.L453L						RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCAGCGCTCAATAACTTGACA	0.423												
ENGASE	64772	broad.mit.edu	37	17	77076406	77076406	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:77076406G>A	uc002jwv.2	+	5	691	c.683G>A	c.(682-684)CGT>CAT	p.R228H	ENGASE_uc002jwu.1_Missense_Mutation_p.R228H|ENGASE_uc010wtz.1_Missense_Mutation_p.R42H|ENGASE_uc002jww.2_5'UTR	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	228						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			skin(1)	1						CAGTTTTTTCGTTTTGATGGC	0.607												
CBX4	8535	broad.mit.edu	37	17	77809003	77809003	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:77809003C>T	uc002jxe.2	-	5	601	c.438G>A	c.(436-438)AAG>AAA	p.K146K		NM_003655	NP_003646	O00257	CBX4_HUMAN	chromobox homolog 4	146	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			skin(2)	2			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			ACTTGCCGCTCTTGCCCGGCG	0.637											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RPTOR	57521	broad.mit.edu	37	17	78599517	78599517	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:78599517T>C	uc002jyt.1	+	2	994	c.189T>C	c.(187-189)GTT>GTC	p.V63V	RPTOR_uc002jys.2_Silent_p.V63V|RPTOR_uc010wuf.1_5'UTR|RPTOR_uc010wug.1_Silent_p.V63V	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	raptor isoform 1	63					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)|ovary(1)	6						TTGCCTTAGTTTTGTGCCTGA	0.438												
AATK	9625	broad.mit.edu	37	17	79094124	79094124	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:79094124C>T	uc010dia.2	-	11	3692	c.3612G>A	c.(3610-3612)GCG>GCA	p.A1204A	AATK_uc010dhz.2_RNA	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1204						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1)	9	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCAGGTTGCGCGCGCTCTGGC	0.662												
AZI1	22994	broad.mit.edu	37	17	79173252	79173252	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:79173252C>T	uc002jzp.1	-	10	1321	c.1121G>A	c.(1120-1122)CGG>CAG	p.R374Q	AZI1_uc002jzm.1_5'Flank|AZI1_uc002jzn.1_Missense_Mutation_p.R374Q|AZI1_uc002jzo.1_Missense_Mutation_p.R374Q|AZI1_uc010wum.1_Missense_Mutation_p.R374Q	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	374					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)			AGCAGGCTGCCGCATTCCTGG	0.657												
C17orf70	80233	broad.mit.edu	37	17	79512907	79512907	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:79512907G>A	uc002kaq.2	-	6	2230	c.2175C>T	c.(2173-2175)GGC>GGT	p.G725G	C17orf70_uc002kao.1_Silent_p.G374G|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Silent_p.G574G	NM_001109760	NP_001103230	Q0VG06	FP100_HUMAN	Fanconi anemia core complex 100 kDa subunit	725					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			ovary(1)|skin(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			ACAGGGGCACGCCTGGAGGGG	0.642												
TSPAN10	83882	broad.mit.edu	37	17	79612028	79612028	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:79612028G>A	uc010die.2	+	2	137	c.47G>A	c.(46-48)GGC>GAC	p.G16D	TSPAN10_uc002kaw.1_Missense_Mutation_p.G16D|TSPAN10_uc010did.1_RNA	NM_031945	NP_114151	Q9H1Z9	TSN10_HUMAN	tetraspanin 10	16						integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GAAACTGCAGGCCAGAAGCCC	0.642												
P4HB	5034	broad.mit.edu	37	17	79803437	79803437	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:79803437C>T	uc002kbn.1	-	9	1556	c.1359G>A	c.(1357-1359)ACG>ACA	p.T453T	P4HB_uc002kbl.1_Silent_p.T130T|P4HB_uc002kbm.1_Silent_p.T130T	NM_000918	NP_000909	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta subunit precursor	453	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			GAAGGCGCACCGTCCTGTCGG	0.642												
RFNG	5986	broad.mit.edu	37	17	80006940	80006940	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:80006940G>A	uc002kdj.2	-	7	889	c.881C>T	c.(880-882)GCT>GTT	p.A294V	RFNG_uc002kdh.2_Missense_Mutation_p.A79V|GPS1_uc002kdk.1_5'Flank|GPS1_uc002kdl.1_5'Flank|GPS1_uc010dij.1_5'Flank|GPS1_uc002kdm.1_5'Flank|GPS1_uc002kdn.1_5'Flank|GPS1_uc002kdo.1_5'Flank|GPS1_uc010wvh.1_5'Flank	NM_002917	NP_002908	Q9Y644	RFNG_HUMAN	radical fringe	294	Lumenal (Potential).				cell differentiation|nervous system development|organ morphogenesis|pattern specification process	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GAAGCCTCCAGCCACGTTCAC	0.607												
CCDC57	284001	broad.mit.edu	37	17	80059604	80059604	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:80059604C>T	uc002kdx.1	-	17	2739	c.2702G>A	c.(2701-2703)GGC>GAC	p.G901D		NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	902										ovary(2)	2	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CCTCTGGCAGCCTTTAGCTTT	0.612												
CSNK1D	1453	broad.mit.edu	37	17	80213367	80213367	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:80213367G>T	uc002kej.2	-	3	590	c.274C>A	c.(274-276)CTC>ATC	p.L92I	SLC16A3_uc002kee.2_Intron|CSNK1D_uc002kef.2_Missense_Mutation_p.L92I|CSNK1D_uc002kei.2_Missense_Mutation_p.L92I|CSNK1D_uc010wvj.1_5'UTR|CSNK1D_uc002keh.2_5'Flank|CSNK1D_uc010dim.1_5'Flank	NM_001893	NP_001884	P48730	KC1D_HUMAN	casein kinase 1, delta isoform 1	92	Protein kinase.				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)	2	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			AAGTTGAAGAGGTCCTCCAGG	0.552												
CD7	924	broad.mit.edu	37	17	80274772	80274772	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:80274772C>T	uc002kel.1	-	2	277	c.168G>A	c.(166-168)GGG>GGA	p.G56G	CD7_uc010din.2_Silent_p.G56G|CD7_uc002kem.2_Missense_Mutation_p.D38N|CD7_uc010wvk.1_Silent_p.G56G	NM_006137	NP_006128	P09564	CD7_HUMAN	CD7 antigen precursor	56	Ig-like.|Extracellular (Probable).				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity				0	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			TCAGGTAGATCCCACGCAGGC	0.657												
TBCD	6904	broad.mit.edu	37	17	80861301	80861301	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:80861301C>T	uc002kfz.2	+	19	1881	c.1751C>T	c.(1750-1752)GCG>GTG	p.A584V	TBCD_uc002kfx.1_Missense_Mutation_p.A567V|TBCD_uc002kfy.1_Missense_Mutation_p.A584V|TBCD_uc002kgb.1_5'UTR	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	584	HEAT 2.				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				0	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GAGTTGGCTGCGAGGGCGCTG	0.557												
SMCHD1	23347	broad.mit.edu	37	18	2700817	2700817	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:2700817T>C	uc002klm.3	+	12	1737	c.1548T>C	c.(1546-1548)AAT>AAC	p.N516N	SMCHD1_uc002klk.3_RNA	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	516					chromosome organization		ATP binding				0						TATTCACTAATGACAAATTCC	0.368												
DLGAP1	9229	broad.mit.edu	37	18	3729198	3729198	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:3729198A>G	uc002kmf.2	-	4	1595	c.1528T>C	c.(1528-1530)TCC>CCC	p.S510P	DLGAP1_uc010wyz.1_Missense_Mutation_p.S510P|DLGAP1_uc002kme.1_Missense_Mutation_p.S208P|DLGAP1_uc010dkn.2_Missense_Mutation_p.S208P|DLGAP1_uc010wyw.1_Missense_Mutation_p.S216P|DLGAP1_uc010wyx.1_Missense_Mutation_p.S222P|DLGAP1_uc010wyy.1_Missense_Mutation_p.S222P|DLGAP1_uc002kmg.2_Missense_Mutation_p.S208P|DLGAP1_uc002kmk.2_Missense_Mutation_p.S510P	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	510					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				GACCTCAGGGACACGCACTCG	0.687												
EPB41L3	23136	broad.mit.edu	37	18	5419828	5419828	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:5419828T>G	uc002kmt.1	-	12	1474	c.1388A>C	c.(1387-1389)AAC>ACC	p.N463T	EPB41L3_uc010wzh.1_Missense_Mutation_p.N481T|EPB41L3_uc002kmu.1_Missense_Mutation_p.N481T|EPB41L3_uc010dkq.1_Missense_Mutation_p.N372T|EPB41L3_uc002kms.1_5'UTR|EPB41L3_uc010wze.1_5'UTR|EPB41L3_uc010wzf.1_5'UTR|EPB41L3_uc010wzg.1_5'UTR|EPB41L3_uc010dkr.2_Missense_Mutation_p.N42T	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	463	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						GGTGATCAAGTTGGTCTGAGA	0.333												
LAMA1	284217	broad.mit.edu	37	18	6999505	6999505	+	Silent	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:6999505G>T	uc002knm.2	-	32	4696	c.4602C>A	c.(4600-4602)GCC>GCA	p.A1534A	LAMA1_uc010wzj.1_Silent_p.A1010A	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1534	Laminin EGF-like 17.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGAGCCCCGAGGCCCCCAGCC	0.547												
PTPRM	5797	broad.mit.edu	37	18	7567873	7567873	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:7567873G>A	uc002knn.3	+	1	560	c.57G>A	c.(55-57)GCG>GCA	p.A19A	PTPRM_uc010dkv.2_Silent_p.A19A	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	19					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)				TAACTGCGGCGGGCGAGACGT	0.393												
KIAA0802	23255	broad.mit.edu	37	18	8720350	8720350	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:8720350A>G	uc002knr.2	+	4	355	c.213A>G	c.(211-213)GTA>GTG	p.V71V	KIAA0802_uc002knq.2_Silent_p.V71V	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	422											0						CCAAAGATGTATCTGTCAGAT	0.448												
APCDD1	147495	broad.mit.edu	37	18	10468632	10468632	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:10468632C>T	uc002kom.3	+	2	579	c.225C>T	c.(223-225)GGC>GGT	p.G75G		NM_153000	NP_694545	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	75	Extracellular (Potential).				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding				0				READ - Rectum adenocarcinoma(15;0.08)		CAATCGAGGGCCACTGGGTCT	0.542												
MC2R	4158	broad.mit.edu	37	18	13884951	13884951	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:13884951G>A	uc002ksp.1	-	2	744	c.567C>T	c.(565-567)ATC>ATT	p.I189I		NM_000529	NP_000520	Q01718	ACTHR_HUMAN	melanocortin 2 receptor	189	Helical; Name=5; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			ovary(4)|skin(1)	5					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGAGGCACAGGATGAAGACCA	0.567												
SS18	6760	broad.mit.edu	37	18	23637588	23637588	+	Missense_Mutation	SNP	G	G	A	rs149732063	by1000genomes	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:23637588G>A	uc002kvm.2	-	4	428	c.350C>T	c.(349-351)CCG>CTG	p.P117L	SS18_uc002kvn.2_Missense_Mutation_p.P117L|SS18_uc010xbf.1_Missense_Mutation_p.P35L|SS18_uc010xbg.1_Missense_Mutation_p.P65L|SS18_uc010xbh.1_Missense_Mutation_p.P65L|SS18_uc010xbi.1_Missense_Mutation_p.P94L|SS18_uc010dlz.1_Missense_Mutation_p.P65L	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	117	Transcriptional activation.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12)	soft_tissue(1883)|ovary(1)	1884	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					CTGCATGTGCGGTGCAGGAGG	0.547			T	SSX1| SSX2	synovial sarcoma							
DSC3	1825	broad.mit.edu	37	18	28581620	28581620	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:28581620A>G	uc002kwj.3	-	14	2354	c.2199T>C	c.(2197-2199)ATT>ATC	p.I733I	DSC3_uc002kwi.3_Silent_p.I733I	NM_001941	NP_001932	Q14574	DSC3_HUMAN	desmocollin 3 isoform Dsc3a preproprotein	733	Cytoplasmic (Potential).				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			ovary(2)|skin(2)	4			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGTTTGATATAATTAAGTTTT	0.308												
DSG4	147409	broad.mit.edu	37	18	28965115	28965115	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:28965115A>G	uc002kwq.2	+	2	200	c.65A>G	c.(64-66)AAC>AGC	p.N22S	DSG4_uc002kwr.2_Missense_Mutation_p.N22S	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	desmoglein 4 isoform 2 preproprotein	22					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(3)	8			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATGGAAGTAAACAGTGAATTT	0.204												
DSG4	147409	broad.mit.edu	37	18	28986046	28986046	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:28986046C>T	uc002kwq.2	+	12	1778	c.1643C>T	c.(1642-1644)TCG>TTG	p.S548L	DSG4_uc002kwr.2_Missense_Mutation_p.S548L	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	desmoglein 4 isoform 2 preproprotein	548	Extracellular (Potential).				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(3)	8			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCAGCTACCTCGGCAATCCTT	0.418												
KIAA1012	22878	broad.mit.edu	37	18	29522637	29522637	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:29522637G>A	uc002kxc.3	-	1	455	c.91C>T	c.(91-93)CTC>TTC	p.L31F	KIAA1012_uc002kxb.3_Intron|KIAA1012_uc002kxd.3_RNA|KIAA1012_uc002kxe.2_Missense_Mutation_p.L31F	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	hypothetical protein LOC22878	31					ER to Golgi vesicle-mediated transport	cis-Golgi network					0						AGACGAGTGAGCCGCTCGGCT	0.612												
ASXL3	80816	broad.mit.edu	37	18	31326458	31326458	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:31326458C>T	uc010dmg.1	+	12	6701	c.6646C>T	c.(6646-6648)CGG>TGG	p.R2216W	ASXL3_uc002kxq.2_Missense_Mutation_p.R1923W	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	2216	PHD-type; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						ATGCTCTTGCCGGCTGAAAGC	0.507												
DTNA	1837	broad.mit.edu	37	18	32455306	32455306	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:32455306C>T	uc010dmn.1	+	17	1767	c.1766C>T	c.(1765-1767)ACG>ATG	p.T589M	DTNA_uc002kxw.2_Missense_Mutation_p.T532M|DTNA_uc010dmj.2_Missense_Mutation_p.T529M|DTNA_uc002kxz.2_Missense_Mutation_p.T536M|DTNA_uc002kxy.2_Missense_Mutation_p.T529M|DTNA_uc010xby.1_Missense_Mutation_p.T279M|DTNA_uc010xbz.1_Missense_Mutation_p.T298M|DTNA_uc010xca.1_Missense_Mutation_p.T241M|DTNA_uc002kye.2_Missense_Mutation_p.T237M	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	dystrobrevin alpha isoform 1	589					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0						CCGACGCACACGCCGCAGGAC	0.582												
SLC39A6	25800	broad.mit.edu	37	18	33706548	33706548	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:33706548C>T	uc010dmy.2	-	2	713	c.423G>A	c.(421-423)AAG>AAA	p.K141K	SLC39A6_uc002kzj.2_Intron	NM_012319	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter),	141	Extracellular (Potential).					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			ovary(1)|pancreas(1)	2						GAGCTTTTCGCTTATTTTTAC	0.289												
ELP2	55250	broad.mit.edu	37	18	33726340	33726340	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:33726340A>G	uc002kzk.1	+	11	1131	c.1121A>G	c.(1120-1122)AAC>AGC	p.N374S	ELP2_uc010xcg.1_Missense_Mutation_p.N439S|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Missense_Mutation_p.N348S|ELP2_uc010xch.1_Intron|ELP2_uc002kzn.1_Intron|ELP2_uc002kzo.1_Missense_Mutation_p.N304S	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN	elongator protein 2	374	WD 7.				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				breast(2)|ovary(1)|skin(1)	4						AATACAGTTAACCCAGTAAGA	0.348												
ACAA2	10449	broad.mit.edu	37	18	47311699	47311699	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:47311699T>C	uc002ldw.3	-	9	1374	c.977A>G	c.(976-978)CAG>CGG	p.Q326R	ACAA2_uc002ldx.3_Missense_Mutation_p.Q323R	NM_006111	NP_006102	P42765	THIM_HUMAN	acetyl-coenzyme A acyltransferase 2	326					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			ovary(1)	1						AGCCAAGTACTGGGGAGCAAA	0.403												
CCDC68	80323	broad.mit.edu	37	18	52571597	52571597	+	Missense_Mutation	SNP	G	G	A	rs141183307		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:52571597G>A	uc002lfs.2	-	12	1172	c.1000C>T	c.(1000-1002)CGG>TGG	p.R334W	CCDC68_uc002lft.2_Missense_Mutation_p.R334W	NM_001143829	NP_001137301	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	334										skin(1)	1				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		GTTCATTTCCGTAACCTAATC	0.363												
ZNF532	55205	broad.mit.edu	37	18	56651464	56651464	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:56651464C>T	uc002lho.2	+	11	4219	c.3672C>T	c.(3670-3672)ATC>ATT	p.I1224I	ZNF532_uc002lhp.2_Silent_p.I1222I|ZNF532_uc010xeg.1_Silent_p.I1222I|ZNF532_uc002lhr.2_Silent_p.I1222I|ZNF532_uc002lhs.2_Silent_p.I1222I|ZNF532_uc010xeh.1_Silent_p.I312I	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1224	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|skin(1)	2						ACCTCTTCATCGTACACAAGT	0.532												
SERPINB4	6318	broad.mit.edu	37	18	61305030	61305030	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:61305030T>C	uc002ljf.2	-	8	1182	c.1096A>G	c.(1096-1098)AAT>GAT	p.N366D	SERPINB4_uc002lje.2_Missense_Mutation_p.N345D|SERPINB4_uc002ljg.2_Missense_Mutation_p.N366D	NM_002974	NP_002965	P48594	SPB4_HUMAN	serine (or cysteine) proteinase inhibitor, clade	366					immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|lung(1)	3						AAAGGGTGATTACAACAGAAC	0.443												
SERPINB8	5271	broad.mit.edu	37	18	61649053	61649053	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:61649053G>A	uc002ljv.2	+	4	574	c.405G>A	c.(403-405)TGG>TGA	p.W135*	SERPINB8_uc002ljs.1_Nonsense_Mutation_p.W135*|SERPINB8_uc002ljt.2_Nonsense_Mutation_p.W135*|SERPINB8_uc002lju.2_Nonsense_Mutation_p.W135*|SERPINB8_uc010xex.1_5'UTR	NM_198833	NP_942130	P50452	SPB8_HUMAN	serine (or cysteine) proteinase inhibitor, clade	135					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			skin(1)	1		Esophageal squamous(42;0.129)				TAAATGACTGGGTGGCAGAGA	0.443												
TMX3	54495	broad.mit.edu	37	18	66350180	66350180	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:66350180A>G	uc002lkf.2	-	13	1022	c.887T>C	c.(886-888)ATA>ACA	p.I296T	TMX3_uc010xez.1_Missense_Mutation_p.I155T	NM_019022	NP_061895	Q96JJ7	TMX3_HUMAN	thioredoxin domain containing 10 precursor	296	Lumenal (Potential).				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			skin(1)	1						CAAGGTATTTATGTAGTCATT	0.363												
RTTN	25914	broad.mit.edu	37	18	67684828	67684828	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:67684828A>G	uc002lkp.2	-	46	6304	c.6236T>C	c.(6235-6237)TTG>TCG	p.L2079S	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.L1167S|RTTN_uc002lkn.2_Missense_Mutation_p.L69S|RTTN_uc010dqp.2_Missense_Mutation_p.L331S	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	2079							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)				GAGTAACTTCAACCAAAGAAT	0.378												
CBLN2	147381	broad.mit.edu	37	18	70205584	70205584	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:70205584G>T	uc002lku.2	-	4	737	c.502C>A	c.(502-504)CCA>ACA	p.P168T	CBLN2_uc002lkv.2_Missense_Mutation_p.P168T	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	168	C1q.					integral to membrane					0		Esophageal squamous(42;0.131)				GAGATCACTGGGTAGCCATTC	0.493												
FBXO15	201456	broad.mit.edu	37	18	71740785	71740785	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:71740785T>A	uc002lle.2	-	10	1552	c.1216A>T	c.(1216-1218)ATC>TTC	p.I406F	FBXO15_uc002lld.2_RNA|FBXO15_uc002llf.2_Missense_Mutation_p.I482F	NM_152676	NP_689889	Q8NCQ5	FBX15_HUMAN	F-box protein 15 isoform 1	406										ovary(2)|pancreas(1)	3		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GTCTCTCTGATCCACACCAGC	0.483												
SALL3	27164	broad.mit.edu	37	18	76754750	76754750	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:76754750C>T	uc002lmt.2	+	2	2759	c.2759C>T	c.(2758-2760)CCG>CTG	p.P920L	SALL3_uc010dra.2_Missense_Mutation_p.P527L	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	920					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCCAAGTCCCCGGGCCTGGGC	0.602												
PRSSL1	400668	broad.mit.edu	37	19	691994	691994	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:691994C>T	uc002lpl.1	-	3	276	c.245G>A	c.(244-246)CGC>CAC	p.R82H	PRSSL1_uc010xfs.1_Missense_Mutation_p.R81H	NM_214710	NP_999875	Q6UWY2	PRS57_HUMAN	protease, serine-like 1 precursor	82	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGCCAGTGCGGAGGTCTCT	0.637												
C19orf22	91300	broad.mit.edu	37	19	902066	902066	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:902066G>A	uc002lqg.2	-	2	204	c.136C>T	c.(136-138)CGG>TGG	p.R46W	C19orf22_uc002lqh.2_Missense_Mutation_p.R25W|C19orf22_uc002lqi.2_Missense_Mutation_p.R46W|C19orf22_uc002lqj.2_5'UTR	NM_138774	NP_620129	Q96D70	CS022_HUMAN	hypothetical protein LOC91300	46						nucleus	nucleic acid binding			pancreas(1)	1		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTGTTTCCGCCTGGAAGCC	0.657												
POLR2E	5434	broad.mit.edu	37	19	1095303	1095303	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:1095303C>G	uc002lre.3	-	1	89	c.12G>C	c.(10-12)GAG>GAC	p.E4D	POLR2E_uc010xgf.1_RNA	NM_002695	NP_002686	P19388	RPAB1_HUMAN	DNA directed RNA polymerase II polypeptide E	4					interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTCTCCTCCTCGTCGTCCA	0.612												
ADAMTSL5	339366	broad.mit.edu	37	19	1507635	1507635	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:1507635G>A	uc002ltd.2	-	8	1053	c.609C>T	c.(607-609)TTC>TTT	p.F203F	ADAMTSL5_uc010dsl.2_5'UTR|ADAMTSL5_uc010xgq.1_Silent_p.F213F	NM_213604	NP_998769	Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5 precursor	203						proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		AGTACCCAGCGAAGGCACCTG	0.517												
TLE6	79816	broad.mit.edu	37	19	2991927	2991927	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:2991927G>T	uc002lwu.2	+	13	1362	c.962G>T	c.(961-963)CGG>CTG	p.R321L	TLE6_uc002lwt.2_Missense_Mutation_p.R444L|TLE6_uc010dtg.2_Missense_Mutation_p.R444L|TLE6_uc002lwv.2_Missense_Mutation_p.R225L	NM_024760	NP_079036	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 isoform 2	321	WD 4.				regulation of transcription, DNA-dependent	nucleus				ovary(1)	1				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)		GCCTGTCTGCGGTGCTGGGAC	0.582												
TLE2	7089	broad.mit.edu	37	19	3005947	3005947	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:3005947C>T	uc002lww.2	-	16	1783	c.1520G>A	c.(1519-1521)CGT>CAT	p.R507H	TLE2_uc010xhb.1_Missense_Mutation_p.R174H|TLE2_uc010dth.2_Missense_Mutation_p.R508H|TLE2_uc010xhc.1_Missense_Mutation_p.R385H|TLE2_uc010dti.2_Missense_Mutation_p.R521H	NM_003260	NP_003251	Q04725	TLE2_HUMAN	transducin-like enhancer protein 2 isoform 1	507	WD 2.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGCAGGAACGAATGTAGTT	0.632												
EEF2	1938	broad.mit.edu	37	19	3977944	3977944	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:3977944C>T	uc002lze.2	-	12	2023	c.1940G>A	c.(1939-1941)CGC>CAC	p.R647H		NM_001961	NP_001952	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	647						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGATCTTGCGGGCCTCAGC	0.632												
KDM4B	23030	broad.mit.edu	37	19	5032920	5032920	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:5032920G>A	uc002mbq.3	+	3	245	c.19G>A	c.(19-21)GGC>AGC	p.G7S	KDM4B_uc010xil.1_Missense_Mutation_p.G7S|KDM4B_uc010xim.1_Missense_Mutation_p.G7S	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	7					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			lung(1)	1						TGAGGACCACGGCGCCCAGAA	0.572												
KDM4B	23030	broad.mit.edu	37	19	5131974	5131974	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:5131974G>A	uc002mbq.3	+	13	2088	c.1862G>A	c.(1861-1863)CGG>CAG	p.R621Q	KDM4B_uc010xim.1_Missense_Mutation_p.R655Q|KDM4B_uc002mbr.3_Missense_Mutation_p.R379Q	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	621					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			lung(1)	1						CCGCCCACCCGGTCCCCACTG	0.632												
PTPRS	5802	broad.mit.edu	37	19	5214592	5214592	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:5214592G>A	uc002mbv.2	-	29	4708	c.4474C>T	c.(4474-4476)CGG>TGG	p.R1492W	PTPRS_uc002mbu.1_Missense_Mutation_p.R1061W|PTPRS_uc010xin.1_Missense_Mutation_p.R1034W|PTPRS_uc002mbw.2_Missense_Mutation_p.R1454W|PTPRS_uc002mbx.2_Missense_Mutation_p.R1049W|PTPRS_uc002mby.2_Missense_Mutation_p.R1045W	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1492	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TCCTCCAGCCGCGTCATCATG	0.637												
RFX2	5990	broad.mit.edu	37	19	6042100	6042100	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:6042100A>G	uc002meb.2	-	4	484	c.215T>C	c.(214-216)GTG>GCG	p.V72A	RFX2_uc002mec.2_Missense_Mutation_p.V72A|RFX2_uc010xiy.1_Missense_Mutation_p.V27A	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|ovary(1)|skin(1)	6						CACGTACTGCACCTGGGCAGG	0.607												
EMR1	2015	broad.mit.edu	37	19	6901939	6901939	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:6901939A>G	uc002mfw.2	+	6	606	c.568A>G	c.(568-570)AAC>GAC	p.N190D	EMR1_uc010dvc.2_Missense_Mutation_p.N190D|EMR1_uc010dvb.2_Missense_Mutation_p.N138D|EMR1_uc010xji.1_Intron|EMR1_uc010xjj.1_Intron	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	190	Extracellular (Potential).|EGF-like 4; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)					AACTTGTAATAACACTGTTGG	0.463												
MCOLN1	57192	broad.mit.edu	37	19	7591468	7591468	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:7591468G>T	uc002mgo.2	+	3	506	c.381G>T	c.(379-381)CAG>CAT	p.Q127H	MCOLN1_uc002mgp.2_Missense_Mutation_p.R14M	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	mucolipin 1	127					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(1)	1						AGCTGTACCAGGCCATCTTCC	0.388												
KIAA1543	57662	broad.mit.edu	37	19	7675435	7675435	+	Silent	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:7675435C>A	uc002mgv.3	+	6	935	c.834C>A	c.(832-834)GCC>GCA	p.A278A	KIAA1543_uc002mgu.3_Silent_p.A305A	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN	NEZHA isoform 2	278	CH.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			pancreas(1)	1						ATTTCTGTGCCTCTCGCCTTC	0.642												
MYO1F	4542	broad.mit.edu	37	19	8595150	8595150	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:8595150C>T	uc002mkg.2	-	21	2372	c.2258G>A	c.(2257-2259)CGT>CAT	p.R753H		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	753						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						CAGGAACTGACGCAGCTCGGG	0.617												
ACTL9	284382	broad.mit.edu	37	19	8807821	8807821	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:8807821C>T	uc002mkl.2	-	1	1352	c.1231G>A	c.(1231-1233)GTG>ATG	p.V411M		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	actin-like 9	411						cytoplasm|cytoskeleton				large_intestine(2)|pancreas(1)	3						TTGCGGTACACGATATAGGGA	0.632												
OR7D2	162998	broad.mit.edu	37	19	9296577	9296577	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:9296577G>A	uc002mkz.1	+	1	308	c.120G>A	c.(118-120)CTG>CTA	p.L40L		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D,	40	Helical; Name=1; (Potential).				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|upper_aerodigestive_tract(1)	3						TGACGGTGCTGGGAAACCTGC	0.512												
ZNF699	374879	broad.mit.edu	37	19	9406947	9406947	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:9406947A>G	uc002mlc.1	-	5	1133	c.1133T>C	c.(1132-1134)CTC>CCC	p.L378P		NM_198535	NP_940937	Q32M78	ZN699_HUMAN	zinc finger protein 699	378	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATGTACAGTGAGTTTTGAGGA	0.423												
ZNF426	79088	broad.mit.edu	37	19	9639131	9639131	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:9639131T>G	uc002mlq.2	-	8	1854	c.1590A>C	c.(1588-1590)AAA>AAC	p.K530N	ZNF426_uc010dws.2_Missense_Mutation_p.K492N	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN	zinc finger protein 426	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ATTTATAGGGTTTCTCTTCTG	0.418												
OLFM2	93145	broad.mit.edu	37	19	9968005	9968005	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:9968005A>G	uc002mmp.2	-	4	542	c.514T>C	c.(514-516)TAT>CAT	p.Y172H	OLFM2_uc002mmo.2_Missense_Mutation_p.Y94H	NM_058164	NP_477512	O95897	NOE2_HUMAN	olfactomedin 2 precursor	172	Potential.					extracellular region				large_intestine(1)|skin(1)	2						AGGTCCTCATACCCGTAGGCA	0.637												
ANGPTL6	83854	broad.mit.edu	37	19	10203376	10203376	+	Silent	SNP	G	G	A	rs138536720		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:10203376G>A	uc002mmx.1	-	6	1420	c.1302C>T	c.(1300-1302)CAC>CAT	p.H434H	C19orf66_uc002mmu.3_3'UTR|C19orf66_uc002mmv.3_3'UTR|C19orf66_uc002mmw.3_3'UTR|ANGPTL6_uc002mmy.1_Silent_p.H434H	NM_031917	NP_114123	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6 precursor	434	Fibrinogen C-terminal.				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding				0			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			AGTGGCCGCCGTGGTGCCACA	0.622												
KEAP1	9817	broad.mit.edu	37	19	10610476	10610476	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:10610476G>A	uc002moq.1	-	2	390	c.234C>T	c.(232-234)GAC>GAT	p.D78D	KEAP1_uc002mor.1_Silent_p.D78D	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	78	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GCAGTGTGACGTCACACAGCT	0.597												
TSPAN16	26526	broad.mit.edu	37	19	11408917	11408917	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:11408917G>A	uc002mqv.1	+	2	319	c.169G>A	c.(169-171)GTT>ATT	p.V57I	TSPAN16_uc002mqu.1_RNA	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN	transmembrane 4 superfamily member 16	57	Helical; (Potential).					integral to membrane				skin(1)	1						CCTCCTTCACGTTGGCAACCT	0.572												
LPPR2	64748	broad.mit.edu	37	19	11471930	11471930	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:11471930C>T	uc002mre.1	+	6	766	c.429C>T	c.(427-429)TTC>TTT	p.F143F	LPPR2_uc002mrf.1_Silent_p.F118F|LPPR2_uc010dxy.1_5'UTR	NM_022737	NP_073574	Q96GM1	LPPR2_HUMAN	lipid phosphate phosphatase-related protein type	143	Helical; (Potential).					integral to membrane	phosphatidate phosphatase activity			large_intestine(1)	1						CGACCATCTTCGCCAACGCGG	0.642												
ACP5	54	broad.mit.edu	37	19	11687099	11687099	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:11687099C>T	uc002msg.3	-	4	840	c.694G>A	c.(694-696)GGG>AGG	p.G232R	ACP5_uc002msh.3_Missense_Mutation_p.G232R|ACP5_uc002msi.3_Missense_Mutation_p.G232R|ACP5_uc002msj.3_Missense_Mutation_p.G232R	NM_001611	NP_001602	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	232					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			central_nervous_system(1)	1						GCAGTGACCCCGTATGTGGCC	0.662												
ZNF700	90592	broad.mit.edu	37	19	12058330	12058330	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:12058330A>G	uc002msu.2	+	3	318	c.192A>G	c.(190-192)GGA>GGG	p.G64G	ZNF700_uc010xme.1_Silent_p.G82G|ZNF763_uc010xmf.1_Intron	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	64	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTATTTTAGGAAAAAAATGGA	0.368												
MAN2B1	4125	broad.mit.edu	37	19	12769060	12769060	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:12769060C>T	uc002mub.2	-	9	1284	c.1208G>A	c.(1207-1209)CGC>CAC	p.R403H	MAN2B1_uc010dyv.1_Missense_Mutation_p.R402H	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	403					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6						GTAGCTGAGGCGCTCGTAGCG	0.632												
ZSWIM4	65249	broad.mit.edu	37	19	13919924	13919924	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:13919924G>A	uc002mxh.1	+	5	1091	c.902G>A	c.(901-903)CGC>CAC	p.R301H	ZSWIM4_uc010xng.1_Missense_Mutation_p.R107H	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	301							zinc ion binding			central_nervous_system(2)	2			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			AACGGGGCGCGCATGCTGATT	0.687												
NANOS3	342977	broad.mit.edu	37	19	13988138	13988138	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:13988138C>T	uc002mxj.3	+	1	189	c.76C>T	c.(76-78)CCT>TCT	p.P26S		NM_001098622	NP_001092092	P60323	NANO3_HUMAN	nanos homolog 3	26					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GAAAGAGGGTCCTGAAACCAG	0.642												
LPHN1	22859	broad.mit.edu	37	19	14269224	14269224	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:14269224C>T	uc010xnn.1	-	13	2601	c.2305G>A	c.(2305-2307)GCA>ACA	p.A769T	LPHN1_uc010xno.1_Missense_Mutation_p.A764T|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	769	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						ATGGATGCTGCGATGACCTGT	0.642												
CCDC105	126402	broad.mit.edu	37	19	15132166	15132166	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:15132166G>A	uc002nae.2	+	4	975	c.876G>A	c.(874-876)GCG>GCA	p.A292A		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	292					microtubule cytoskeleton organization	microtubule				ovary(1)	1						CATTTGCAGCGTGCGCCTTGG	0.617												
CYP4F2	8529	broad.mit.edu	37	19	16000370	16000370	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:16000370G>A	uc002nbs.1	-	7	831	c.781C>T	c.(781-783)CGC>TGC	p.R261C	CYP4F2_uc010xot.1_Missense_Mutation_p.R112C|CYP4F2_uc010xou.1_Missense_Mutation_p.R112C	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	261					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			ovary(1)|skin(1)	2						TGCACCAGGCGGCAGGCCCTG	0.562												
CYP4F11	57834	broad.mit.edu	37	19	16040401	16040401	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:16040401G>A	uc002nbu.2	-	3	245	c.209C>T	c.(208-210)ACG>ATG	p.T70M	CYP4F11_uc010eab.1_Missense_Mutation_p.T70M|CYP4F11_uc002nbt.2_Missense_Mutation_p.T70M	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN	cytochrome P450 family 4 subfamily F polypeptide	70					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1						GCCCTCTTCCGTGGGAGTGAC	0.388												
MED26	9441	broad.mit.edu	37	19	16688383	16688383	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:16688383C>T	uc002nen.1	-	3	519	c.258G>A	c.(256-258)CCG>CCA	p.P86P	MED26_uc002nee.2_RNA	NM_004831	NP_004822	O95402	MED26_HUMAN	mediator complex subunit 26	86	TFIIS N-terminal.				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			ovary(2)	2						GCTGGTGTGCCGGCTCGATGA	0.692												
TMEM38A	79041	broad.mit.edu	37	19	16791318	16791318	+	Missense_Mutation	SNP	C	C	T	rs139650677		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:16791318C>T	uc002nes.2	+	3	483	c.392C>T	c.(391-393)GCG>GTG	p.A131V		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	131	Cytoplasmic (Potential).					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|ovary(1)	3						CGCAAGATCGCGGTGGGCATC	0.527												
HAUS8	93323	broad.mit.edu	37	19	17179875	17179875	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:17179875C>T	uc002nfe.2	-	3	224	c.113G>A	c.(112-114)CGG>CAG	p.R38Q	HAUS8_uc002nff.2_Missense_Mutation_p.R38Q|HAUS8_uc002nfg.1_5'UTR|HAUS8_uc002nfh.1_Missense_Mutation_p.R38Q	NM_033417	NP_219485	Q9BT25	HAUS8_HUMAN	sarcoma antigen NY-SAR-48 isoform a	38				R -> P (in Ref. 5; AAH04398).	cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole					0						CTGCAGATACCGGGACTCAAT	0.532												
ANKLE1	126549	broad.mit.edu	37	19	17396335	17396335	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:17396335C>T	uc002nga.2	+	7	1748	c.1472C>T	c.(1471-1473)ACG>ATG	p.T491M	ANKLE1_uc010xpm.1_RNA|ANKLE1_uc010eao.1_Missense_Mutation_p.T487M|ANKLE1_uc010xpn.1_Missense_Mutation_p.T519M|ANKLE1_uc002nfy.2_Missense_Mutation_p.T454M|ANKLE1_uc002nfz.2_Missense_Mutation_p.T197M	NM_152363	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat domain 41	491						nuclear envelope					0						GGCAAAGGGACGAGGGCCCGG	0.612												
MAP1S	55201	broad.mit.edu	37	19	17831825	17831825	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:17831825A>G	uc002nhe.1	+	2	208	c.199A>G	c.(199-201)ACC>GCC	p.T67A	MAP1S_uc010eaz.1_RNA|MAP1S_uc010eba.1_Missense_Mutation_p.T67A|MAP1S_uc002nhf.1_Intron|MAP1S_uc010xpv.1_Missense_Mutation_p.T41A	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	67	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1						ACACTCTGCCACCTTCTCCAG	0.582												
B3GNT3	10331	broad.mit.edu	37	19	17922546	17922546	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:17922546T>C	uc002nhk.1	+	3	819	c.734T>C	c.(733-735)ATC>ACC	p.I245T	B3GNT3_uc002nhl.1_Missense_Mutation_p.I245T|B3GNT3_uc010ebd.1_Missense_Mutation_p.I245T|B3GNT3_uc010ebe.1_Missense_Mutation_p.I245T	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal	245	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			upper_aerodigestive_tract(1)	1						GTGGGCCCCATCCGGGCTTTT	0.572												
UPF1	5976	broad.mit.edu	37	19	18967788	18967788	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:18967788G>A	uc002nkg.2	+	14	2235	c.1960G>A	c.(1960-1962)GAG>AAG	p.E654K	UPF1_uc002nkf.2_Missense_Mutation_p.E643K|UPF1_uc002nkh.2_5'Flank	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	654					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						CCAGGCCACCGAGCCGGAGTG	0.607												
DDX49	54555	broad.mit.edu	37	19	19035782	19035782	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:19035782C>A	uc002nkq.1	+	9	1078	c.1021C>A	c.(1021-1023)CGT>AGT	p.R341S	HOMER3_uc002nko.1_Intron|HOMER3_uc002nkp.1_Intron|DDX49_uc002nkr.1_RNA|DDX49_uc002nks.1_Missense_Mutation_p.R234S|DDX49_uc002nkt.1_3'UTR	NM_019070	NP_061943	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	341	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1			Epithelial(12;0.0289)			CCGGACGGCCCGTGCAGGTGA	0.657												
NCAN	1463	broad.mit.edu	37	19	19360629	19360629	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:19360629A>G	uc002nlz.2	+	15	3974	c.3875A>G	c.(3874-3876)CAG>CGG	p.Q1292R	NCAN_uc002nma.2_Missense_Mutation_p.S48G	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	1292					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			caccaccaccagcatcaccac	0.433												
ZNF43	7594	broad.mit.edu	37	19	22000730	22000730	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:22000730C>A	uc002nqj.2	-	3	319	c.189G>T	c.(187-189)TGG>TGT	p.W63C	ZNF43_uc010ecv.2_Missense_Mutation_p.W57C|ZNF43_uc002nql.2_Missense_Mutation_p.W57C|ZNF43_uc002nqm.2_Missense_Mutation_p.W57C|ZNF43_uc002nqk.2_5'UTR	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	63	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TCATAGGCTCCCAAGGCTCTT	0.423												
ZNF208	7757	broad.mit.edu	37	19	22193695	22193695	+	Translation_Start_Site	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:22193695C>T	uc002nqp.2	-	1	51	c.-98G>A	c.(-100--96)GTGTG>GTATG		ZNF208_uc002nqo.1_Translation_Start_Site|ZNF208_uc002nqq.2_RNA	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				GCAGAGGACACACAGCAGTAA	0.592												
SLC7A9	11136	broad.mit.edu	37	19	33353425	33353425	+	Silent	SNP	C	C	T	rs75036167		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:33353425C>T	uc002ntv.3	-	5	663	c.546G>A	c.(544-546)GCG>GCA	p.A182A	SLC7A9_uc002ntt.3_Intron|SLC7A9_uc002ntu.3_Silent_p.A182A|SLC7A9_uc002ntw.3_Intron	NM_001126335	NP_001119807	P82251	BAT1_HUMAN	solute carrier family 7, member 9	182	Helical; (Potential).		A -> T (in CSNU; type III; frequent mutation; mild loss of amino acid transport activity).		blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			skin(1)	1	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CCAGCTTGGCCGCGGTGAAGA	0.597												
CHST8	64377	broad.mit.edu	37	19	34263385	34263385	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:34263385G>A	uc002nus.3	+	5	1197	c.692G>A	c.(691-693)AGC>AAC	p.S231N	CHST8_uc002nut.3_Missense_Mutation_p.S231N|CHST8_uc002nuu.2_Missense_Mutation_p.S231N	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	231	Lumenal (Potential).				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)					CACTATGGCAGCGCTCTCAAG	0.632												
HPN	3249	broad.mit.edu	37	19	35550829	35550829	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:35550829G>A	uc002nxq.1	+	7	587	c.342G>A	c.(340-342)ACG>ACA	p.T114T	HPN_uc002nxr.1_Silent_p.T114T|HPN_uc002nxs.1_Intron|HPN_uc010xsh.1_Silent_p.T83T|HPN_uc002nxt.1_5'UTR|LOC100128675_uc010xsi.1_Intron	NM_002151	NP_002142	P05981	HEPS_HUMAN	hepsin	114	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)	CCAATGGCACGTCGGGCTTCT	0.706												
USF2	7392	broad.mit.edu	37	19	35769944	35769944	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:35769944G>A	uc002nyq.1	+	9	1027	c.918G>A	c.(916-918)CGG>CGA	p.R306R	USF2_uc010xss.1_Silent_p.R306R|USF2_uc002nyr.1_Silent_p.R239R|USF2_uc002nys.1_Silent_p.R108R|USF2_uc002nyt.1_Silent_p.R175R|USF2_uc002nyu.1_Silent_p.R108R|USF2_uc002nyv.1_Silent_p.R100R	NM_003367	NP_003358	Q15853	USF2_HUMAN	upstream stimulatory factor 2 isoform 1	306					lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity				0	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGGCCGAGCGGCTGCAGATGG	0.652												
MAG	4099	broad.mit.edu	37	19	35800865	35800865	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:35800865G>A	uc002nyy.1	+	8	1469	c.1320G>A	c.(1318-1320)CCG>CCA	p.P440P	MAG_uc002nyx.1_Silent_p.P440P|MAG_uc010eds.1_Silent_p.P415P|MAG_uc002nyz.1_Silent_p.P440P	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	440	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)			ACCCGGAGCCGTCCGTGGCCT	0.667												
U2AF1L4	199746	broad.mit.edu	37	19	36235042	36235042	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:36235042C>A	uc002obg.2	-	5	368	c.59G>T	c.(58-60)CGG>CTG	p.R20L	TMEM149_uc002obb.2_5'Flank|TMEM149_uc002obc.2_5'Flank|TMEM149_uc002obd.3_5'Flank|TMEM149_uc010xsy.1_5'Flank|TMEM149_uc010eej.2_5'UTR|U2AF1L4_uc002obh.1_5'UTR|U2AF1L4_uc002obe.2_Missense_Mutation_p.R79L|U2AF1L4_uc002obf.2_Missense_Mutation_p.R79L|PSENEN_uc002obi.1_5'Flank|PSENEN_uc002obj.1_5'Flank|PSENEN_uc002obk.1_5'Flank			Q8WU68	U2AF4_HUMAN	Homo sapiens cDNA FLJ35525 fis, clone SPLEN2001650.	118	RRM.				mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding				0	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCTCCCTCCGGAACTGCAG	0.577												
ARHGAP33	115703	broad.mit.edu	37	19	36278199	36278199	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:36278199T>C	uc002obs.1	+	21	2334	c.2249T>C	c.(2248-2250)GTG>GCG	p.V750A	ARHGAP33_uc002obt.1_Missense_Mutation_p.V775A|ARHGAP33_uc010eel.2_Missense_Mutation_p.V499A|ARHGAP33_uc002obv.1_Missense_Mutation_p.V499A	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	803					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						GCTCAGCAGGTGGCCGAGCAA	0.716												
WDR62	284403	broad.mit.edu	37	19	36593955	36593955	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:36593955C>T	uc002odc.2	+	28	3517	c.3426C>T	c.(3424-3426)TAC>TAT	p.Y1142Y	WDR62_uc002odd.2_Silent_p.Y1147Y	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	1142	WD 14.				cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTACTGGCTACGCCTCCCCAG	0.647												
ZNF146	7705	broad.mit.edu	37	19	36727780	36727780	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:36727780T>C	uc002odq.3	+	4	1961	c.438T>C	c.(436-438)CAT>CAC	p.H146H	ZNF146_uc010eet.2_Silent_p.H146H|ZNF146_uc010eeu.2_Silent_p.H146H	NM_007145	NP_009076	Q15072	OZF_HUMAN	zinc finger protein 146	146	C2H2-type 5.				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding				0	Esophageal squamous(110;0.162)					TTACTGAGCATGAGAAAATCC	0.423												
ZNF345	25850	broad.mit.edu	37	19	37367968	37367968	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:37367968G>A	uc002oex.2	+	3	614	c.236G>A	c.(235-237)CGA>CAA	p.R79Q	ZNF345_uc002oey.3_Missense_Mutation_p.R79Q|ZNF345_uc002oez.2_Intron	NM_003419	NP_003410	Q14585	ZN345_HUMAN	zinc finger protein 345	79	C2H2-type 1.				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTCCTTGTTCGACATCAGCGA	0.403												
ZNF569	148266	broad.mit.edu	37	19	37903706	37903706	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:37903706G>T	uc002ogi.2	-	6	2412	c.1854C>A	c.(1852-1854)AGC>AGA	p.S618R	ZNF569_uc002ogh.2_Missense_Mutation_p.S459R|ZNF569_uc002ogj.2_Missense_Mutation_p.S642R	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	618	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAAGGGATGAGCTTTGGGAGA	0.413												
PAPL	390928	broad.mit.edu	37	19	39589701	39589701	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:39589701C>A	uc002oki.2	+	4	698	c.424C>A	c.(424-426)CTG>ATG	p.L142M	PAPL_uc010egl.2_Missense_Mutation_p.L142M	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	iron/zinc purple acid phosphatase-like protein	142						extracellular region	acid phosphatase activity|metal ion binding				0						GTTTGGAGACCTGGGGGCTGA	0.632												
ZNF780B	163131	broad.mit.edu	37	19	40541822	40541822	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:40541822C>T	uc002omu.2	-	5	1009	c.944G>A	c.(943-945)CGA>CAA	p.R315Q	ZNF780B_uc002omv.2_Missense_Mutation_p.R167Q	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	315	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTAATGATATCGAAAGGCCAT	0.383												
ADCK4	79934	broad.mit.edu	37	19	41209479	41209479	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:41209479C>T	uc002oor.2	-	9	1068	c.766G>A	c.(766-768)GCG>ACG	p.A256T	ADCK4_uc002oop.1_5'Flank|ADCK4_uc002ooq.1_Missense_Mutation_p.A215T	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4 isoform a	256	Protein kinase.					integral to membrane	protein serine/threonine kinase activity				0			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			TTGAGTACCGCCAGCAGGTTC	0.617												
CYP2F1	1572	broad.mit.edu	37	19	41630643	41630643	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:41630643C>T	uc002opu.1	+	8	1040	c.984C>T	c.(982-984)ATC>ATT	p.I328I	CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_Missense_Mutation_p.S309L|CYP2F1_uc002opv.1_RNA	NM_000774	NP_000765	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F,	328					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0						AGGAGGAGATCGACCTCGTGG	0.672												
CYP2S1	29785	broad.mit.edu	37	19	41700534	41700534	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:41700534G>A	uc002opw.2	+	2	318	c.263G>A	c.(262-264)CGG>CAG	p.R88Q	CYP2F1_uc010xvw.1_Intron|CYP2S1_uc010xvx.1_5'UTR	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S,	88					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			skin(1)	1						GAGGCTGTGCGGGAGGCCCTG	0.632												
CD79A	973	broad.mit.edu	37	19	42383351	42383351	+	Missense_Mutation	SNP	G	G	A	rs144367487	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:42383351G>A	uc002orv.2	+	2	556	c.371G>A	c.(370-372)CGC>CAC	p.R124H	CD79A_uc002oru.2_Intron	NM_001783	NP_001774	P11912	CD79A_HUMAN	CD79A antigen isoform 1 precursor	124	Extracellular (Potential).				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			ovary(2)|pancreas(1)	3						ACCTACCTCCGCGTGCGCCGT	0.597			O|S		DLBCL							
ATP1A3	478	broad.mit.edu	37	19	42489240	42489240	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:42489240C>T	uc002osg.2	-	8	977	c.823G>A	c.(823-825)GCC>ACC	p.A275T	ATP1A3_uc010xwf.1_Missense_Mutation_p.A286T|ATP1A3_uc010xwg.1_Missense_Mutation_p.A245T|ATP1A3_uc010xwh.1_Missense_Mutation_p.A288T|ATP1A3_uc002osh.2_Missense_Mutation_p.A275T	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	275	Cytoplasmic (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2						ATCTCGATGGCGATGGGCGTC	0.632												
MEGF8	1954	broad.mit.edu	37	19	42880243	42880243	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:42880243C>T	uc002otl.3	+	41	8288	c.7653C>T	c.(7651-7653)GGC>GGT	p.G2551G	MEGF8_uc002otm.3_Silent_p.G2159G|MEGF8_uc002otn.3_Silent_p.G212G	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2618	Extracellular (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				TGCTGCTGGGCGTGGGAGACC	0.647												
PSG1	5669	broad.mit.edu	37	19	43376071	43376071	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:43376071C>T	uc002ovb.2	-	3	695	c.557G>A	c.(556-558)AGC>AAC	p.S186N	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.S186N|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.S186N|PSG1_uc010eio.1_Missense_Mutation_p.S186N|PSG1_uc002oux.1_Missense_Mutation_p.S115N|PSG1_uc002ouy.1_Missense_Mutation_p.S186N|PSG1_uc002ouz.1_Missense_Mutation_p.S186N|PSG1_uc002ova.1_Intron|PSG1_uc002ovc.2_Intron|PSG1_uc002ovd.1_Missense_Mutation_p.S186N	NM_006905	NP_008836	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	186	Ig-like C2-type 1.				female pregnancy	extracellular region				ovary(2)	2		Prostate(69;0.00682)				CATAGGGAGGCTCTGACCATT	0.498												
XRCC1	7515	broad.mit.edu	37	19	44057061	44057061	+	Splice_Site	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:44057061C>A	uc002owt.2	-	8	832	c.712_splice	c.e8-1	p.P238_splice	XRCC1_uc010xwp.1_Splice_Site_p.P207_splice	NM_006297	NP_006288	P18887	XRCC1_HUMAN	X-ray repair cross complementing protein 1						base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1)	7		Prostate(69;0.0153)				ACTCCTGGGGCTGAGGGGATG	0.562								Other_BER_factors				
ZNF155	7711	broad.mit.edu	37	19	44500799	44500799	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:44500799G>T	uc002oxy.1	+	5	995	c.790G>T	c.(790-792)GCA>TCA	p.A264S	ZNF155_uc002oxz.1_Missense_Mutation_p.A264S|ZNF155_uc010xwt.1_Missense_Mutation_p.A275S	NM_003445	NP_003436	Q12901	ZN155_HUMAN	zinc finger protein 155	264	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2		Prostate(69;0.0352)				CATTTGTGAGGCATGTGGGAA	0.403												
CEACAM19	56971	broad.mit.edu	37	19	45179597	45179597	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:45179597C>T	uc002ozo.3	+	3	959	c.479C>T	c.(478-480)GCG>GTG	p.A160V	CEACAM19_uc002ozp.3_Missense_Mutation_p.A160V	NM_020219	NP_064604	Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion	160	Helical; (Potential).					integral to membrane					0	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				GGGATCCTGGCGGCCACCATC	0.577												
GIPR	2696	broad.mit.edu	37	19	46176148	46176148	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:46176148G>A	uc002pcu.1	+	5	419	c.320G>A	c.(319-321)GGC>GAC	p.G107D	GIPR_uc002pct.1_Missense_Mutation_p.G107D|GIPR_uc010xxp.1_Missense_Mutation_p.G71D|GIPR_uc010xxq.1_RNA|MIR642_hsa-mir-642|MI0003657_5'Flank	NM_000164	NP_000155	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	107	Extracellular (Potential).				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				skin(1)	1		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		GGCAGTGATGGCCAATGGGGA	0.498												
DMPK	1760	broad.mit.edu	37	19	46280967	46280967	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:46280967C>T	uc002pdd.1	-	6	1414	c.870G>A	c.(868-870)GCG>GCA	p.A290A	DMPK_uc010xxs.1_Silent_p.A191A|DMPK_uc002pde.1_Silent_p.A290A|DMPK_uc002pdf.1_Silent_p.A280A|DMPK_uc002pdg.1_Silent_p.A280A|DMPK_uc002pdh.1_Silent_p.A280A|DMPK_uc002pdi.1_Silent_p.A306A|DMPK_uc010xxt.1_Silent_p.A280A	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	myotonic dystrophy protein kinase isoform 1	290	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)	3		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CCGTGGAATCCGCGTAGAAGG	0.642												
CCDC8	83987	broad.mit.edu	37	19	46915642	46915642	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:46915642G>A	uc002pep.2	-	1	1278	c.426C>T	c.(424-426)AGC>AGT	p.S142S		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	142						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)		TCTCCAGGTCGCTTCCCAGGA	0.667												
GRLF1	2909	broad.mit.edu	37	19	47422062	47422062	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:47422062C>T	uc010ekv.2	+	1	130	c.130C>T	c.(130-132)CGC>TGC	p.R44C		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	44					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)		CCGCTTCGTGCGCCCGAGTGC	0.527												
BCAT2	587	broad.mit.edu	37	19	49303347	49303347	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:49303347T>G	uc002pkr.2	-	5	459	c.422A>C	c.(421-423)AAG>ACG	p.K141T	BCAT2_uc002pkp.2_Missense_Mutation_p.K101T|BCAT2_uc002pkq.3_Missense_Mutation_p.K101T|BCAT2_uc002pks.2_Missense_Mutation_p.K101T|BCAT2_uc002pkt.2_Missense_Mutation_p.K49T|BCAT2_uc010emh.1_Missense_Mutation_p.K141T|BCAT2_uc010emi.1_Missense_Mutation_p.K49T|BCAT2_uc002pku.1_Missense_Mutation_p.K101T|BCAT2_uc010emj.1_RNA	NM_001190	NP_001181	O15382	BCAT2_HUMAN	branched chain aminotransferase 2, mitochondrial	141						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			ovary(1)	1		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	CAACTCCAGCTTGTCGAAACT	0.662												
PPFIA3	8541	broad.mit.edu	37	19	49642973	49642973	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:49642973G>A	uc002pmr.2	+	17	2457	c.2125G>A	c.(2125-2127)GCC>ACC	p.A709T	PPFIA3_uc010yai.1_RNA|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.A577T	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	709						cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GGAGGGGCCGGCCATCCCAGG	0.627												
PRR12	57479	broad.mit.edu	37	19	50099565	50099565	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:50099565C>T	uc002poo.3	+	4	1973	c.1973C>T	c.(1972-1974)GCG>GTG	p.A658V		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		ACCTCAGGGGCGGACGGCTTG	0.701												
PRMT1	3276	broad.mit.edu	37	19	50189959	50189959	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:50189959C>T	uc010enf.1	+	10	1050	c.1008C>T	c.(1006-1008)GGC>GGT	p.G336G	PRMT1_uc002ppc.1_RNA|PRMT1_uc002ppd.2_Silent_p.G312G|PRMT1_uc002ppe.2_Silent_p.G318G|PRMT1_uc002ppf.2_RNA|PRMT1_uc002ppg.2_Silent_p.G283G|PRMT1_uc010ybb.1_5'Flank|C19orf76_uc002pph.2_5'Flank	NM_001536	NP_001527	Q8WUW5	Q8WUW5_HUMAN	HMT1 hnRNP methyltransferase-like 2 isoform 1	317						cytoplasm	protein methyltransferase activity			ovary(1)	1		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		GCACCATCGGCATGCGGCCCA	0.448												
TSKS	60385	broad.mit.edu	37	19	50249873	50249873	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:50249873G>A	uc002ppm.2	-	6	857	c.846C>T	c.(844-846)TGC>TGT	p.C282C		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	testis-specific kinase substrate	282							protein binding			large_intestine(1)|skin(1)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GCGGGCCGGGGCAGCCCTGGG	0.567												
MYH14	79784	broad.mit.edu	37	19	50794294	50794294	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:50794294C>T	uc002prr.1	+	34	5040	c.4993C>T	c.(4993-4995)CGC>TGC	p.R1665C	MYH14_uc010enu.1_Missense_Mutation_p.R1706C|MYH14_uc002prq.1_Missense_Mutation_p.R1673C|MYH14_uc010ycb.1_Missense_Mutation_p.R16C|MYH14_uc002prs.1_Missense_Mutation_p.R16C	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	1665	Potential.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GAAGCAGCTTCGCAAGATGCA	0.642												
POLD1	5424	broad.mit.edu	37	19	50910265	50910265	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:50910265G>A	uc002psb.3	+	13	1576	c.1520G>A	c.(1519-1521)CGC>CAC	p.R507H	POLD1_uc002psc.3_Missense_Mutation_p.R507H|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.R507H	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	507					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		ACCCGCCGCCGCCTGGCTGTG	0.418								DNA_polymerases_(catalytic_subunits)				
LRRC4B	94030	broad.mit.edu	37	19	51021034	51021034	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:51021034C>T	uc002pss.2	-	3	2073	c.1936G>A	c.(1936-1938)GGG>AGG	p.G646R		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	646	Cytoplasmic (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TGGCTGTCCCCGCCCACACCA	0.721												
GPR32	2854	broad.mit.edu	37	19	51273872	51273872	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:51273872G>A	uc010ycf.1	+	1	15	c.15G>A	c.(13-15)TCG>TCA	p.S5S		NM_001506	NP_001497	O75388	GPR32_HUMAN	G protein-coupled receptor 32	5	Extracellular (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		ATGGGGTCTCGGAGGGGACCA	0.383												
KLK15	55554	broad.mit.edu	37	19	51330229	51330229	+	Missense_Mutation	SNP	G	G	A	rs139927076		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:51330229G>A	uc002ptl.2	-	3	417	c.386C>T	c.(385-387)ACG>ATG	p.T129M	KLK15_uc002ptm.2_Intron|KLK15_uc002ptn.2_Missense_Mutation_p.T129M|KLK15_uc002pto.2_Missense_Mutation_p.T128M|KLK15_uc010ych.1_Intron|KLK15_uc010yci.1_Missense_Mutation_p.T128M|KLK15_uc010eod.2_RNA	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15 isoform 4	129	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)|breast(1)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GGGGCAACGCGTGGGTAGCAC	0.716												
SIGLEC5	8778	broad.mit.edu	37	19	52130718	52130718	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:52130718G>T	uc002pxe.2	-	6	1418	c.1279C>A	c.(1279-1281)CAA>AAA	p.Q427K		NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5 precursor	427	Extracellular (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)		CCCTGACCTTGCAGCAGCAGG	0.642												
ZNF350	59348	broad.mit.edu	37	19	52469195	52469195	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:52469195G>A	uc002pyd.2	-	5	739	c.511C>T	c.(511-513)CGA>TGA	p.R171*	uc002pyb.2_Intron|uc002pyc.2_Intron	NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	171					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(1)	1		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		GTATGAAGTCGTTCATGGTTA	0.373												
ZNF616	90317	broad.mit.edu	37	19	52618898	52618898	+	Missense_Mutation	SNP	G	G	A	rs149072042	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:52618898G>A	uc002pym.2	-	4	1802	c.1519C>T	c.(1519-1521)CGT>TGT	p.R507C	ZNF616_uc002pyn.2_RNA	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	zinc finger protein 616	507	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ACTGCAAGACGTGAATGTTGA	0.433												
ZNF83	55769	broad.mit.edu	37	19	53116634	53116634	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:53116634T>C	uc002pzu.3	-	2	2428	c.1184A>G	c.(1183-1185)CAT>CGT	p.H395R	ZNF83_uc002pzv.3_Missense_Mutation_p.H395R|ZNF83_uc010eps.2_Missense_Mutation_p.H367R|ZNF83_uc010ept.2_Missense_Mutation_p.H395R|ZNF83_uc010epu.2_Missense_Mutation_p.H395R|ZNF83_uc010epv.2_Missense_Mutation_p.H395R|ZNF83_uc010epw.2_Missense_Mutation_p.H395R|ZNF83_uc010epx.2_Missense_Mutation_p.H367R|ZNF83_uc010epy.2_Missense_Mutation_p.H395R|ZNF83_uc010epz.2_Missense_Mutation_p.H367R	NM_018300	NP_060770	P51522	ZNF83_HUMAN	zinc finger protein 83 isoform a	395	C2H2-type 11.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CTCTCCAGTATGGATTCTGTG	0.363												
ZNF320	162967	broad.mit.edu	37	19	53367219	53367219	+	RNA	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:53367219A>G	uc010eqh.1	-	3		c.458T>C			ZNF320_uc010eqi.1_RNA			A2RRD8	ZN320_HUMAN	Homo sapiens full length insert cDNA clone ZD42C02.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)		AAAAGAGAATACAAAACCAGG	0.313												
ZNF415	55786	broad.mit.edu	37	19	53612025	53612025	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:53612025A>G	uc002qax.2	-	7	1766	c.1417T>C	c.(1417-1419)TCA>CCA	p.S473P	ZNF415_uc002qat.2_Missense_Mutation_p.S437P|ZNF415_uc002qaw.2_Missense_Mutation_p.S425P|ZNF415_uc010yds.1_Missense_Mutation_p.S425P|ZNF415_uc010ydt.1_Missense_Mutation_p.S425P|ZNF415_uc002qau.2_Missense_Mutation_p.S412P|ZNF415_uc002qav.2_Missense_Mutation_p.S437P|ZNF415_uc002qba.2_Missense_Mutation_p.S195P|ZNF415_uc002qay.2_Missense_Mutation_p.S412P|ZNF415_uc002qaz.2_Missense_Mutation_p.S473P	NR_028343		Q09FC8	ZN415_HUMAN	RecName: Full=Zinc finger protein 415;	473	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.0191)		GCAAGGTGTGAATTGTAACTG	0.418												
LILRA5	353514	broad.mit.edu	37	19	54822903	54822903	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:54822903G>A	uc002qfe.2	-	5	613	c.493C>T	c.(493-495)CGG>TGG	p.R165W	LILRA5_uc002qff.2_Missense_Mutation_p.R153W|LILRA5_uc010yev.1_Missense_Mutation_p.R165W|LILRA5_uc010yew.1_Missense_Mutation_p.R153W|LILRA5_uc002qfh.1_Missense_Mutation_p.R153W|LILRA5_uc002qfg.1_Missense_Mutation_p.R165W	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor subfamily	165	Extracellular (Potential).|Ig-like C2-type 2.				innate immune response	extracellular region|integral to membrane	receptor activity			upper_aerodigestive_tract(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AATCTCAGCCGTGAGCCACAC	0.582												
LILRA4	23547	broad.mit.edu	37	19	54848764	54848764	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:54848764G>A	uc002qfj.2	-	5	916	c.859C>T	c.(859-861)CGC>TGC	p.R287C	LILRA4_uc002qfi.2_Missense_Mutation_p.R221C	NM_012276	NP_036408	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor subfamily	287	Extracellular (Potential).|Ig-like C2-type 3.					integral to membrane	receptor activity			upper_aerodigestive_tract(1)|central_nervous_system(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CCGTAGGAGCGGCTCACAGGG	0.682												
FCAR	2204	broad.mit.edu	37	19	55401033	55401033	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:55401033A>G	uc002qhr.1	+	5	865	c.668A>G	c.(667-669)TAC>TGC	p.Y223C	FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Missense_Mutation_p.Y174C|FCAR_uc010esi.1_Missense_Mutation_p.Y100C|FCAR_uc002qhu.1_Missense_Mutation_p.Y127C|FCAR_uc002qhv.1_Missense_Mutation_p.Y201C|FCAR_uc002qhw.1_Missense_Mutation_p.Y211C|FCAR_uc002qhx.1_Missense_Mutation_p.Y115C|FCAR_uc002qhy.1_Missense_Mutation_p.Y189C|FCAR_uc002qhz.1_Silent_p.L186L|FCAR_uc002qia.1_Missense_Mutation_p.Y114C	NM_002000	NP_001991	P24071	FCAR_HUMAN	Fc alpha receptor isoform a precursor	223	Extracellular (Potential).				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(193;0.0443)		CACCAAGATTACACGACGCAG	0.537												
RPL28	6158	broad.mit.edu	37	19	55899400	55899400	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:55899400G>A	uc002qkv.2	+	4	350	c.308G>A	c.(307-309)CGC>CAC	p.R103H	RPL28_uc010yga.1_Missense_Mutation_p.R103H|RPL28_uc010ygb.1_Missense_Mutation_p.R103H|RPL28_uc002qkw.1_3'UTR	NM_000991	NP_000982	P46779	RL28_HUMAN	ribosomal protein L28 isoform 2	103					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		AACAAGTACCGCCCCGACCTG	0.607												
ZNF628	89887	broad.mit.edu	37	19	55993235	55993235	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:55993235G>A	uc002qld.2	+	3	1228	c.663G>A	c.(661-663)ACG>ACA	p.T221T		NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	221	C2H2-type 7.					nucleus	DNA binding|zinc ion binding				0	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		ACCAGCGCACGCAcggcgccg	0.542												
U2AF2	11338	broad.mit.edu	37	19	56166473	56166473	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:56166473G>A	uc002qlu.2	+	1	1058	c.3G>A	c.(1-3)ATG>ATA	p.M1I	U2AF2_uc002qlt.2_Missense_Mutation_p.M1I	NM_007279	NP_009210	P26368	U2AF2_HUMAN	U2 (RNU2) small nuclear RNA auxiliary factor 2	1					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			ovary(1)	1		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GCCTCAGCATGTCGGACTTCG	0.682												
ZNF787	126208	broad.mit.edu	37	19	56599515	56599515	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:56599515G>A	uc010eth.1	-	3	1145	c.1026C>T	c.(1024-1026)GGC>GGT	p.G342G		NM_001002836	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CCGAGGGCGCGCCCACCGCGT	0.756												
ZNF71	58491	broad.mit.edu	37	19	57133439	57133439	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:57133439C>T	uc002qnm.3	+	3	1022	c.784C>T	c.(784-786)CGC>TGC	p.R262C		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	262	C2H2-type 5.					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)		CGTGCACCAGCGCACGCACAC	0.672												
ZIM2	23619	broad.mit.edu	37	19	57286450	57286450	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:57286450G>T	uc002qnr.2	-	11	1572	c.1190C>A	c.(1189-1191)GCG>GAG	p.A397E	uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Missense_Mutation_p.A193E|ZIM2_uc010ygr.1_Missense_Mutation_p.A193E|ZIM2_uc002qnq.2_Missense_Mutation_p.A397E|ZIM2_uc010etp.2_Missense_Mutation_p.A397E|ZIM2_uc010ygs.1_Missense_Mutation_p.A397E	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		ACAGAGATTCGCACACTGGAC	0.458												
PEG3	5178	broad.mit.edu	37	19	57325987	57325987	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:57325987T>G	uc002qnu.2	-	7	4174	c.3823A>C	c.(3823-3825)AGT>CGT	p.S1275R	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.S1246R|PEG3_uc002qnv.2_Missense_Mutation_p.S1275R|PEG3_uc002qnw.2_Missense_Mutation_p.S1151R|PEG3_uc002qnx.2_Missense_Mutation_p.S1149R|PEG3_uc010etr.2_Missense_Mutation_p.S1275R	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	1275					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCGGTCTGACTTCTCTGAAAC	0.463												
ZNF543	125919	broad.mit.edu	37	19	57840273	57840273	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:57840273C>T	uc002qoi.1	+	4	1788	c.1443C>T	c.(1441-1443)TGC>TGT	p.C481C		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	481	C2H2-type 11.				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)		CCTATGAGTGCGTGGAGTGTG	0.493												
ZBTB45	84878	broad.mit.edu	37	19	59028928	59028928	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:59028928C>T	uc002qtd.2	-	2	405	c.113G>A	c.(112-114)CGC>CAC	p.R38H	ZBTB45_uc002qte.2_Missense_Mutation_p.R38H|ZBTB45_uc002qtf.2_Missense_Mutation_p.R38H	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	38	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		TTCACGAATGCGCACAGTCAC	0.602											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TMEM18	129787	broad.mit.edu	37	2	675583	675583	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:675583G>A	uc002qwl.2	-	2	199	c.105C>T	c.(103-105)CAC>CAT	p.H35H	TMEM18_uc002qwk.2_RNA|uc002qwm.1_5'Flank	NM_152834	NP_690047	Q96B42	TMM18_HUMAN	transmembrane protein 18	35	Helical; (Potential).				cell migration	integral to membrane|nuclear membrane				ovary(1)	1	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		CGCAGAGCGCGTGGAAGGTGG	0.572												
RNF144A	9781	broad.mit.edu	37	2	7164594	7164594	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:7164594A>G	uc002qys.2	+	7	1046	c.604A>G	c.(604-606)ATG>GTG	p.M202V	RNF144A_uc002qyt.2_Missense_Mutation_p.M51V	NM_014746	NP_055561	P50876	R144A_HUMAN	ring finger protein 144	202	RING-type 2; degenerate.					Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			ovary(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		CGCGCAGATGATGTGCAAGAA	0.547												
KIDINS220	57498	broad.mit.edu	37	2	8957838	8957838	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:8957838C>T	uc002qzc.2	-	4	398	c.216G>A	c.(214-216)TGG>TGA	p.W72*	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Nonsense_Mutation_p.W30*|KIDINS220_uc010yiw.1_Nonsense_Mutation_p.W72*	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	72	Cytoplasmic (Potential).|ANK 3.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TAAGTGCTGTCCAATTATCCT	0.353												
E2F6	1876	broad.mit.edu	37	2	11587798	11587798	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:11587798C>A	uc002rbh.2	-	6	1046	c.754G>T	c.(754-756)GGG>TGG	p.G252W	E2F6_uc002rbe.2_Missense_Mutation_p.G177W|E2F6_uc002rbf.2_Missense_Mutation_p.G220W|E2F6_uc002rbg.2_Missense_Mutation_p.G177W|E2F6_uc002rbi.2_Missense_Mutation_p.G177W|E2F6_uc010yjl.1_RNA	NM_198256	NP_937987	O75461	E2F6_HUMAN	E2F transcription factor 6	252	Transcription repression.				negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity			skin(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		GAAGAGGTCCCGACACCTTCA	0.433												
GREB1	9687	broad.mit.edu	37	2	11706636	11706636	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:11706636T>G	uc002rbk.1	+	4	608	c.308T>G	c.(307-309)CTT>CGT	p.L103R	GREB1_uc002rbl.2_Missense_Mutation_p.L103R|GREB1_uc002rbm.2_5'UTR|GREB1_uc002rbn.1_Missense_Mutation_p.L103R	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	103						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GACCTGCGCCTTGTCTCCATT	0.647												
GREB1	9687	broad.mit.edu	37	2	11774326	11774326	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:11774326C>T	uc002rbk.1	+	29	5361	c.5061C>T	c.(5059-5061)GAC>GAT	p.D1687D	GREB1_uc002rbp.1_Silent_p.D685D	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1687						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CGGCCCCCGACATCATGCACT	0.617												
LAPTM4A	9741	broad.mit.edu	37	2	20251253	20251253	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:20251253C>T	uc002rdm.2	-	1	537	c.29G>A	c.(28-30)CGC>CAC	p.R10H	LAPTM4A_uc002rdn.2_5'UTR|LAPTM4A_uc010yjx.1_Missense_Mutation_p.R10H	NM_014713	NP_055528	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	10					transport	endomembrane system|Golgi apparatus|integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGGTCACTGCGGTTCCGCTT	0.627												
GDF7	151449	broad.mit.edu	37	2	20871149	20871149	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:20871149C>T	uc002rdz.1	+	2	1893	c.1317C>T	c.(1315-1317)TAC>TAT	p.Y439Y		NM_182828	NP_878248	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7 preproprotein	439					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAAGCAATACGAGGACATGG	0.687												
APOB	338	broad.mit.edu	37	2	21228086	21228086	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:21228086G>A	uc002red.2	-	26	11782	c.11654C>T	c.(11653-11655)GCA>GTA	p.A3885V		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3885					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)	CTCAAAGCGTGCAGTCAGTGC	0.468												
APOB	338	broad.mit.edu	37	2	21232835	21232835	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:21232835C>A	uc002red.2	-	26	7033	c.6905G>T	c.(6904-6906)GGA>GTA	p.G2302V		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2302					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)	AATTGTAGTTCCCAATTGATC	0.328												
APOB	338	broad.mit.edu	37	2	21233839	21233839	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:21233839T>G	uc002red.2	-	26	6029	c.5901A>C	c.(5899-5901)AAA>AAC	p.K1967N		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1967					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)	GGGCACTGACTTTGTGTTCAA	0.453												
MFSD2B	388931	broad.mit.edu	37	2	24244805	24244805	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:24244805G>A	uc002reo.1	+	8	873	c.859G>A	c.(859-861)GTG>ATG	p.V287M		NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing	287	Helical; (Potential).				transport	integral to membrane				ovary(2)	2						CCTGAAGCTGGTGATCTCCTT	0.617												
HADHA	3030	broad.mit.edu	37	2	26414471	26414471	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:26414471C>T	uc002rgy.2	-	19	2157	c.2027G>A	c.(2026-2028)CGC>CAC	p.R676H	HADHA_uc010yks.1_Missense_Mutation_p.R589H	NM_000182	NP_000173	P40939	ECHA_HUMAN	mitochondrial trifunctional protein, alpha	676					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	TGTCACCAGGCGGAACTGGAT	0.532												
OTOF	9381	broad.mit.edu	37	2	26684998	26684998	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:26684998G>A	uc002rhk.2	-	42	5371	c.5244C>T	c.(5242-5244)GAC>GAT	p.D1748D	OTOF_uc010yla.1_Silent_p.D478D|OTOF_uc002rhh.2_Silent_p.D981D|OTOF_uc002rhi.2_Silent_p.D1058D|OTOF_uc002rhj.2_Silent_p.D981D	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1748	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAAGTCGTCGTCCTCCAAGA	0.607												
C2orf70	339778	broad.mit.edu	37	2	26802284	26802284	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:26802284G>A	uc010eyn.2	+	4	584	c.584G>A	c.(583-585)TGC>TAC	p.C195Y		NM_001105519	NP_001098989	A6NJV1	CB070_HUMAN	hypothetical protein LOC339778	195										skin(1)	1						AAGAGAGACTGCTACTTTGAG	0.502												
AGBL5	60509	broad.mit.edu	37	2	27276774	27276774	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:27276774C>T	uc002rie.2	+	4	615	c.398C>T	c.(397-399)ACG>ATG	p.T133M	AGBL5_uc002ric.2_Missense_Mutation_p.T133M|AGBL5_uc002rid.2_Missense_Mutation_p.T133M|AGBL5_uc002rif.2_RNA	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5 isoform 1	133					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGACAGAGACGCAGTTTGTG	0.552												
EMILIN1	11117	broad.mit.edu	37	2	27307392	27307392	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:27307392G>A	uc002rii.3	+	5	2978	c.2550G>A	c.(2548-2550)GGG>GGA	p.G850G	EMILIN1_uc002rik.3_Silent_p.G85G|KHK_uc002ril.2_5'Flank|KHK_uc002rim.2_5'Flank|KHK_uc002rin.2_5'Flank|KHK_uc002rio.2_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	850	Collagen-like.|Potential.				cell adhesion	collagen		p.G850R(1)		pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCCATCGGGCCACCAGGTA	0.687												
GTF3C2	2976	broad.mit.edu	37	2	27566379	27566379	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:27566379C>T	uc002rjv.1	-	3	406	c.43G>A	c.(43-45)GGC>AGC	p.G15S	GTF3C2_uc002rju.1_Missense_Mutation_p.G26S|GTF3C2_uc002rjw.1_Missense_Mutation_p.G15S|GTF3C2_uc010eyz.1_Missense_Mutation_p.G15S	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide	15						transcription factor TFIIIC complex				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCACGGGGCCGGCCTCCCCC	0.557												
IFT172	26160	broad.mit.edu	37	2	27702965	27702965	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:27702965C>T	uc002rku.2	-	9	888	c.837G>A	c.(835-837)AAG>AAA	p.K279K	IFT172_uc002rkw.2_Silent_p.K279K|IFT172_uc010yls.1_Silent_p.K258K|IFT172_uc010ezc.2_Silent_p.K279K|IFT172_uc002rkv.2_Silent_p.K279K	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	279					cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					TCTCCTTGGGCTTTGCCTCTT	0.478												
CCDC121	79635	broad.mit.edu	37	2	27850186	27850186	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:27850186C>T	uc002rle.2	-	2	662	c.481G>A	c.(481-483)GAC>AAC	p.D161N	ZNF512_uc010yly.1_Intron|CCDC121_uc010eze.2_Missense_Mutation_p.D325N|CCDC121_uc002rld.2_Missense_Mutation_p.D323N|GPN1_uc010ezf.2_5'Flank|GPN1_uc010yma.1_5'Flank|GPN1_uc010ymb.1_5'Flank|GPN1_uc010ymc.1_5'Flank|GPN1_uc010ymd.1_5'Flank|GPN1_uc010yme.1_5'Flank|GPN1_uc010ezg.1_5'Flank	NM_024584	NP_078860	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121 isoform 3	161	Potential.										0	Acute lymphoblastic leukemia(172;0.155)					AGCCTCCTGTCTGGCTCGCTC	0.478												
FOSL2	2355	broad.mit.edu	37	2	28627100	28627100	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:28627100C>A	uc002rma.2	+	2	1038	c.229C>A	c.(229-231)CCT>ACT	p.P77T	FOSL2_uc010ymi.1_Missense_Mutation_p.P38T	NM_005253	NP_005244	P15408	FOSL2_HUMAN	FOS-like antigen 2	77					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(172;0.155)					CAACCCATACCCTCGCTCGCA	0.627												
C2orf71	388939	broad.mit.edu	37	2	29296745	29296745	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:29296745T>C	uc002rmt.1	-	1	383	c.383A>G	c.(382-384)GAC>GGC	p.D128G		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	128					response to stimulus|visual perception	photoreceptor outer segment				skin(1)	1						TCCAGAAAAGTCTGCCCCTTG	0.468												
FEZ2	9637	broad.mit.edu	37	2	36818143	36818143	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:36818143G>A	uc002rph.2	-	2	325	c.278C>T	c.(277-279)GCC>GTC	p.A93V	FEZ2_uc002rpf.2_5'UTR|FEZ2_uc002rpg.2_Missense_Mutation_p.A93V|FEZ2_uc002rpi.2_Intron|FEZ2_uc002rpj.2_Missense_Mutation_p.A93V	NM_005102	NP_005093	Q9UHY8	FEZ2_HUMAN	zygin 2 isoform 1	93					axon guidance|signal transduction		protein binding			ovary(1)	1		all_hematologic(82;0.21)				ATCTGTCAGGGCATTCCAAAT	0.368												
PRKD3	23683	broad.mit.edu	37	2	37483955	37483955	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:37483955G>A	uc002rqd.2	-	16	2818	c.2263C>T	c.(2263-2265)CGT>TGT	p.R755C	PRKD3_uc002rqe.1_Missense_Mutation_p.R355C	NM_005813	NP_005804	O94806	KPCD3_HUMAN	protein kinase D3	755	Protein kinase.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_hematologic(82;0.21)				TCTAGGGAACGGTTGTAACCT	0.433												
DHX57	90957	broad.mit.edu	37	2	39070156	39070156	+	Missense_Mutation	SNP	G	G	A	rs145590165		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:39070156G>A	uc002rrf.2	-	12	2515	c.2416C>T	c.(2416-2418)CGC>TGC	p.R806C	DHX57_uc002rrd.3_Missense_Mutation_p.R190C|DHX57_uc002rre.2_Missense_Mutation_p.R239C	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	806							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		all_hematologic(82;0.248)				CCTTTATAGCGGGCCAGGAGC	0.408												
PPM1B	5495	broad.mit.edu	37	2	44428909	44428909	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:44428909C>T	uc002rtt.2	+	2	999	c.571C>T	c.(571-573)CGT>TGT	p.R191C	PPM1B_uc002rts.2_Missense_Mutation_p.R191C|PPM1B_uc002rtu.2_Missense_Mutation_p.R191C|PPM1B_uc002rtv.2_Intron|PPM1B_uc002rtw.2_Missense_Mutation_p.R191C|PPM1B_uc002rtx.2_Missense_Mutation_p.R191C	NM_002706	NP_002697	O75688	PPM1B_HUMAN	protein phosphatase 1B isoform 1	191					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GATGATACAACGTGTTAATGG	0.468												
SLC3A1	6519	broad.mit.edu	37	2	44528255	44528255	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:44528255C>T	uc002ruc.3	+	6	1203	c.1125C>T	c.(1123-1125)CCC>CCT	p.P375P	SLC3A1_uc002rty.2_Silent_p.P375P|SLC3A1_uc002rtz.2_Silent_p.P375P|SLC3A1_uc002rua.2_Silent_p.P375P|SLC3A1_uc002rub.2_Silent_p.P375P|SLC3A1_uc002rud.3_Silent_p.P97P|SLC3A1_uc002rue.3_5'Flank	NM_000341	NP_000332	Q07837	SLC31_HUMAN	solute carrier family 3, member 1	375	Extracellular (Potential).				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity				0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GCACGGAGCCCGGCAGATACA	0.527												
KLRAQ1	129285	broad.mit.edu	37	2	48692092	48692092	+	Silent	SNP	C	C	T	rs140345835	by1000genomes	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:48692092C>T	uc002rwm.2	+	8	896	c.711C>T	c.(709-711)AAC>AAT	p.N237N	KLRAQ1_uc002rwi.1_Silent_p.N237N|KLRAQ1_uc002rwj.2_Silent_p.N237N|KLRAQ1_uc002rwl.2_Silent_p.N191N|KLRAQ1_uc002rwk.2_Silent_p.N237N|KLRAQ1_uc010yok.1_Silent_p.N237N	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	KLRAQ motif containing 1 isoform 1	237										ovary(1)	1						GTCAGTACAACGCTCTGAACG	0.323												
NRXN1	9378	broad.mit.edu	37	2	50170901	50170901	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:50170901G>A	uc010fbp.2	-	5	1769	c.962C>T	c.(961-963)GCA>GTA	p.A321V	NRXN1_uc002rxb.3_Missense_Mutation_p.A1058V|NRXN1_uc010fbq.2_Missense_Mutation_p.A1426V|NRXN1_uc002rxe.3_Missense_Mutation_p.A1356V|NRXN1_uc010yon.1_Missense_Mutation_p.A21V|NRXN1_uc002rxa.3_Missense_Mutation_p.A21V	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	321	Extracellular (Potential).				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGGACACTCTGCTGAGGCCAC	0.438												
NRXN1	9378	broad.mit.edu	37	2	50464107	50464107	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:50464107A>G	uc010fbp.2	-	2	1068	c.261T>C	c.(259-261)GCT>GCC	p.A87A	NRXN1_uc002rxb.3_Silent_p.P794P|NRXN1_uc010fbq.2_Silent_p.P1162P|NRXN1_uc002rxe.3_Silent_p.P1122P|NRXN1_uc002rxc.1_RNA	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	87	Extracellular (Potential).				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATGTCGTCCCAGCTGGAAAAC	0.408												
BCL11A	53335	broad.mit.edu	37	2	60688092	60688092	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:60688092G>A	uc002sae.1	-	4	2183	c.1955C>T	c.(1954-1956)ACG>ATG	p.T652M	BCL11A_uc002sab.2_Missense_Mutation_p.T652M|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.T321M|BCL11A_uc010ypj.1_Missense_Mutation_p.T618M|BCL11A_uc002sad.1_Missense_Mutation_p.T500M|BCL11A_uc002saf.1_Missense_Mutation_p.T618M	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	652					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CACGTTCTCCGTGTTGGGCAT	0.617			T	IGH@	B-CLL							
EHBP1	23301	broad.mit.edu	37	2	63206338	63206338	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:63206338C>T	uc002sby.2	+	16	3063	c.2581C>T	c.(2581-2583)CGA>TGA	p.R861*	EHBP1_uc010fcp.2_Nonsense_Mutation_p.R826*|EHBP1_uc002sbz.2_Nonsense_Mutation_p.R826*|EHBP1_uc002scb.2_Nonsense_Mutation_p.R826*	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1 isoform 1	861	Potential.					cytoplasm|membrane				ovary(1)|breast(1)	2	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AGATGAAGAGCGACGTCGGCA	0.433									Hereditary_Prostate_Cancer			
GKN2	200504	broad.mit.edu	37	2	69174390	69174390	+	Splice_Site	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:69174390C>T	uc002sfa.2	-	4	314	c.205_splice	c.e4-1	p.G69_splice	GKN2_uc002sfb.3_Splice_Site_p.G69_splice	NM_182536	NP_872342	Q86XP6	GKN2_HUMAN	trefoil factor interactions(z) 1 precursor							extracellular region					0						CAATGTAGCCCTGAGGCAGCA	0.488												
ATP6V1B1	525	broad.mit.edu	37	2	71163176	71163176	+	Missense_Mutation	SNP	G	G	A	rs143516810		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:71163176G>A	uc002shj.2	+	1	179	c.92G>A	c.(91-93)CGA>CAA	p.R31Q	ATP6V1B1_uc002shi.1_Missense_Mutation_p.R31Q|ATP6V1B1_uc010fdv.2_Missense_Mutation_p.R31Q|ATP6V1B1_uc010fdw.2_RNA	NM_001692	NP_001683	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1	31					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			skin(1)	1						GCGGTCACCCGAAACTACATC	0.667												
ATP6V1B1	525	broad.mit.edu	37	2	71190412	71190412	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:71190412C>T	uc002shj.2	+	10	1117	c.1030C>T	c.(1030-1032)CAG>TAG	p.Q344*	ATP6V1B1_uc010fdv.2_Intron|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Nonsense_Mutation_p.Q302*	NM_001692	NP_001683	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1	344					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			skin(1)	1						ATCCATCACACAGATCCCCAT	0.612												
ZNF638	27332	broad.mit.edu	37	2	71577059	71577059	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:71577059A>T	uc002shx.2	+	2	1294	c.975A>T	c.(973-975)CAA>CAT	p.Q325H	ZNF638_uc010fec.2_Missense_Mutation_p.Q431H|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.2_Missense_Mutation_p.Q325H|ZNF638_uc002shy.2_Missense_Mutation_p.Q325H|ZNF638_uc002shz.2_Missense_Mutation_p.Q325H|ZNF638_uc002sia.2_Missense_Mutation_p.Q325H|ZNF638_uc002sib.1_Missense_Mutation_p.Q325H	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	325					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						CAATGAGTCAATCTCTGATTC	0.423												
DYSF	8291	broad.mit.edu	37	2	71762412	71762412	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:71762412C>T	uc002sie.2	+	15	1744	c.1368C>T	c.(1366-1368)TGC>TGT	p.C456C	DYSF_uc010feg.2_Silent_p.C487C|DYSF_uc010feh.2_Silent_p.C456C|DYSF_uc002sig.3_Silent_p.C456C|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.C456C|DYSF_uc010fef.2_Silent_p.C487C|DYSF_uc010fei.2_Silent_p.C487C|DYSF_uc010fek.2_Silent_p.C488C|DYSF_uc010fej.2_Silent_p.C457C|DYSF_uc010fel.2_Silent_p.C457C|DYSF_uc010feo.2_Silent_p.C488C|DYSF_uc010fem.2_Silent_p.C457C|DYSF_uc010fen.2_Silent_p.C488C|DYSF_uc002sif.2_Silent_p.C457C	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	456	Cytoplasmic (Potential).|C2 3.		C -> W (in MMD1).			cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						CCTCCATGTGCGAAAAAATGA	0.522												
SFXN5	94097	broad.mit.edu	37	2	73198729	73198729	+	Silent	SNP	G	G	A	rs148361418	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:73198729G>A	uc002siq.2	-	11	842	c.711C>T	c.(709-711)CTC>CTT	p.L237L	SFXN5_uc002sio.2_Silent_p.L129L|SFXN5_uc010yrc.1_Silent_p.L86L|SFXN5_uc002sip.2_Intron|SFXN5_uc010fet.2_Intron|SFXN5_uc010fer.2_RNA|SFXN5_uc010feq.2_Silent_p.L19L|SFXN5_uc010fes.2_Silent_p.L19L	NM_144579	NP_653180	Q8TD22	SFXN5_HUMAN	sideroflexin 5	237					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			ovary(1)	1						AGGAGCCCACGAGGTTGCCAT	0.612												
ALMS1	7840	broad.mit.edu	37	2	73747133	73747133	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:73747133C>T	uc002sje.1	+	13	9885	c.9774C>T	c.(9772-9774)CGC>CGT	p.R3258R	ALMS1_uc002sjf.1_Silent_p.R3214R|ALMS1_uc002sjg.2_Silent_p.R2644R|ALMS1_uc002sjh.1_Silent_p.R2644R|ALMS1_uc010fev.1_Silent_p.R73R	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3256					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						CTTTTTCTCGCGGCACAGATG	0.403												
TPRKB	51002	broad.mit.edu	37	2	73957738	73957738	+	Missense_Mutation	SNP	C	C	A	rs144417465	by1000genomes	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:73957738C>A	uc002sjn.2	-	4	501	c.390G>T	c.(388-390)CAG>CAT	p.Q130H	TPRKB_uc002sjm.2_Missense_Mutation_p.Q169H|TPRKB_uc002sjl.2_Missense_Mutation_p.Q97H|TPRKB_uc002sjo.2_Missense_Mutation_p.Q130H|TPRKB_uc010yrm.1_Missense_Mutation_p.Q97H	NM_016058	NP_057142	Q9Y3C4	TPRKB_HUMAN	TP53RK binding protein	130					protein catabolic process	cytosol|nucleus	protein kinase binding			ovary(1)|skin(1)	2						TCAGAGAAACCTGATGACCTT	0.313												
TET3	200424	broad.mit.edu	37	2	74317124	74317124	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:74317124C>T	uc002skb.3	+	5	2584	c.2584C>T	c.(2584-2586)CGG>TGG	p.R862W		NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	862							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						CAAGTATGCTCGGAGCAAGAC	0.607												
SEMA4F	10505	broad.mit.edu	37	2	74906809	74906809	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:74906809T>C	uc002sna.1	+	14	1897	c.1786T>C	c.(1786-1788)TGT>CGT	p.C596R	SEMA4F_uc010ffr.1_Missense_Mutation_p.C208R|SEMA4F_uc002snb.1_Missense_Mutation_p.C208R|SEMA4F_uc002snc.1_Missense_Mutation_p.C441R	NM_004263	NP_004254	O95754	SEM4F_HUMAN	semaphorin W precursor	596	Ig-like C2-type.|Extracellular (Potential).				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			ovary(2)|pancreas(1)|skin(1)	4						ATGGGCATCCTGTGTGTGGCA	0.592												
LRRTM4	80059	broad.mit.edu	37	2	77746704	77746704	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:77746704A>G	uc002snr.2	-	3	706	c.291T>C	c.(289-291)ATT>ATC	p.I97I	LRRTM4_uc002snq.2_Silent_p.I97I|LRRTM4_uc002sns.2_Silent_p.I97I|LRRTM4_uc002snt.2_Silent_p.I98I	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	97	LRR 2.|Extracellular (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)		CCACTGAGCTAATGTAATTAT	0.368												
CTNNA2	1496	broad.mit.edu	37	2	80874797	80874797	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:80874797A>G	uc010ysh.1	+	18	2667	c.2662A>G	c.(2662-2664)ACC>GCC	p.T888A	CTNNA2_uc010yse.1_Missense_Mutation_p.T840A|CTNNA2_uc010ysf.1_Missense_Mutation_p.T840A|CTNNA2_uc010ysg.1_Missense_Mutation_p.T795A|CTNNA2_uc010ysi.1_Missense_Mutation_p.T472A|CTNNA2_uc010ysj.1_Missense_Mutation_p.T169A	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	888					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						TGTGGCCTCAACCAAATACCA	0.483												
TCF7L1	83439	broad.mit.edu	37	2	85532493	85532493	+	Missense_Mutation	SNP	C	C	T	rs138614113	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:85532493C>T	uc002soy.2	+	8	1030	c.956C>T	c.(955-957)CCG>CTG	p.P319L		NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN	HMG-box transcription factor TCF-3	319	Pro-rich.				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|breast(1)|central_nervous_system(1)	3						AAGCAGGAACCGGCACCCCCC	0.662												
RNF103	7844	broad.mit.edu	37	2	86831536	86831536	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:86831536A>G	uc002srn.2	-	4	2457	c.1488T>C	c.(1486-1488)CCT>CCC	p.P496P	VPS24_uc010ytl.1_Intron|RNF103_uc002srm.2_Silent_p.P357P|uc002sro.2_Intron	NM_005667	NP_005658	O00237	RN103_HUMAN	ring finger protein 103	496					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)	1						GCCAAAGGTCAGGGAAAGCTA	0.443												
CD8A	925	broad.mit.edu	37	2	87017603	87017603	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:87017603A>G	uc002srt.2	-	2	1140	c.251T>C	c.(250-252)CTG>CCG	p.L84P	RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Missense_Mutation_p.L84P|CD8A_uc010ytn.1_Missense_Mutation_p.L125P|CD8A_uc002sru.2_Missense_Mutation_p.L84P	NM_001768	NP_001759	P01732	CD8A_HUMAN	CD8 antigen alpha polypeptide isoform 1	84	Ig-like V-type.|Extracellular (Potential).				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			ovary(1)	1						CTGGGTGTCCAGCCCCTCGGC	0.662												
RPIA	22934	broad.mit.edu	37	2	89034099	89034099	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:89034099G>A	uc002ste.2	+	5	534	c.493G>A	c.(493-495)GTA>ATA	p.V165I		NM_144563	NP_653164	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	165					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			ovary(1)	1		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				TGCTGATGAAGTAGATGCTGA	0.428												
ZNF2	7549	broad.mit.edu	37	2	95847304	95847304	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:95847304C>A	uc002suf.2	+	6	1190	c.728C>A	c.(727-729)TCC>TAC	p.S243Y	ZNF2_uc002sug.2_Missense_Mutation_p.S201Y|ZNF2_uc010yue.1_Missense_Mutation_p.S206Y|ZNF2_uc010fhs.2_Missense_Mutation_p.S164Y	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2 isoform a	243	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		GACCGTTCGTCCCTAACTGTC	0.517												
INPP4A	3631	broad.mit.edu	37	2	99172076	99172076	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:99172076C>T	uc002syy.2	+	17	2035	c.1642C>T	c.(1642-1644)CTG>TTG	p.L548L	INPP4A_uc010yvj.1_Silent_p.L548L|INPP4A_uc010yvk.1_Silent_p.L548L|INPP4A_uc002syx.2_Silent_p.L543L|INPP4A_uc010fik.2_Intron	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type 1	548					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			kidney(1)	1						TGTGGACAAGCTGCTGCAGAA	0.582												
INPP4A	3631	broad.mit.edu	37	2	99204042	99204042	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:99204042G>A	uc002syy.2	+	26	3298	c.2905G>A	c.(2905-2907)GAA>AAA	p.E969K	INPP4A_uc010yvk.1_Missense_Mutation_p.E930K|INPP4A_uc002syx.2_Missense_Mutation_p.E964K|INPP4A_uc010fik.2_Missense_Mutation_p.E298K	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type 1	969					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			kidney(1)	1						CAGGCCTCCCGAAGGGACTTA	0.413												
TBC1D8	11138	broad.mit.edu	37	2	101644825	101644825	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:101644825G>A	uc010fiv.2	-	13	2378	c.2247C>T	c.(2245-2247)TCC>TCT	p.S749S	TBC1D8_uc002tau.3_Silent_p.S506S	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	TBC1 domain family, member 8	749					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			ovary(3)	3						CCTGGTCGTCGGAGAAAAAGG	0.587												
NCK2	8440	broad.mit.edu	37	2	106498353	106498353	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:106498353G>A	uc002tdg.2	+	4	1238	c.796G>A	c.(796-798)GCC>ACC	p.A266T	NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Missense_Mutation_p.A266T	NM_003581	NP_003572	O43639	NCK2_HUMAN	NCK adaptor protein 2 isoform A	266					axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			ovary(1)|lung(1)	2						CCCTGCGCACGCCCCACAGAT	0.667												
RANBP2	5903	broad.mit.edu	37	2	109400128	109400128	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:109400128A>T	uc002tem.3	+	29	9572	c.9446A>T	c.(9445-9447)GAT>GTT	p.D3149V		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	3149	PPIase cyclophilin-type.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						GAAAATTTTGATGTGAAACAT	0.343												
POLR1B	84172	broad.mit.edu	37	2	113332680	113332680	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:113332680A>G	uc002thw.2	+	15	3362	c.2782A>G	c.(2782-2784)ATG>GTG	p.M928V	POLR1B_uc010fkn.2_Missense_Mutation_p.M872V|POLR1B_uc002thx.2_Missense_Mutation_p.M789V|POLR1B_uc010fko.2_Missense_Mutation_p.M745V|POLR1B_uc010fkp.2_Missense_Mutation_p.M367V|POLR1B_uc010yxn.1_Missense_Mutation_p.M966V|POLR1B_uc002thy.2_Missense_Mutation_p.M789V|POLR1B_uc010yxo.1_Missense_Mutation_p.M705V	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	RNA polymerase I polypeptide B isoform 1	928					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(1)	1						GACCATTGGGATGTTAATTGA	0.502												
TFCP2L1	29842	broad.mit.edu	37	2	121997199	121997199	+	Silent	SNP	G	G	A	rs143023699	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:121997199G>A	uc002tmx.2	-	8	888	c.795C>T	c.(793-795)TAC>TAT	p.Y265Y	TFCP2L1_uc010flr.2_Silent_p.Y265Y	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	LBP-9	265					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			pancreas(2)|ovary(1)	3	Renal(3;0.01)					TGTTCACCTGGTAGGCCACGT	0.627												
CLASP1	23332	broad.mit.edu	37	2	122215303	122215303	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:122215303T>C	uc002tnc.2	-	14	1735	c.1345A>G	c.(1345-1347)ATA>GTA	p.I449V	CLASP1_uc002tna.2_5'UTR|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.I449V|CLASP1_uc010yza.1_Missense_Mutation_p.I449V|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tng.1_Missense_Mutation_p.I449V	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	449	HEAT 4.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			ovary(1)|central_nervous_system(1)	2	Renal(3;0.0496)					TTGCTTGTTATGACAGGTATT	0.323												
POTEF	728378	broad.mit.edu	37	2	130877790	130877790	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:130877790T>G	uc010fmh.2	-	3	699	c.299A>C	c.(298-300)AAG>ACG	p.K100T		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	prostate, ovary, testis expressed protein on	100						cell cortex	ATP binding	p.K100N(1)		skin(3)|ovary(2)	5						GCAGCACCACTTGCCCATCTT	0.607												
GPR39	2863	broad.mit.edu	37	2	133403128	133403128	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:133403128G>A	uc002ttl.2	+	2	1780	c.1311G>A	c.(1309-1311)GCG>GCA	p.A437A	LYPD1_uc002ttm.3_3'UTR|LYPD1_uc002ttn.2_3'UTR|LYPD1_uc002tto.2_3'UTR	NM_001508	NP_001499	O43194	GPR39_HUMAN	G protein-coupled receptor 39	437						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding				0						ACTCAGGCGCGAAACCAGCCA	0.517												
LCT	3938	broad.mit.edu	37	2	136566490	136566490	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:136566490C>T	uc002tuu.1	-	8	3438	c.3427G>A	c.(3427-3429)GCT>ACT	p.A1143T		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1143	3.|Extracellular (Potential).|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		ATTCGGTCAGCGGCTTCCACA	0.557												
KYNU	8942	broad.mit.edu	37	2	143715236	143715236	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:143715236T>C	uc002tvl.2	+	7	664	c.534T>C	c.(532-534)CTT>CTC	p.L178L	KYNU_uc002tvk.2_Silent_p.L178L|KYNU_uc010fnm.2_Silent_p.L178L	NM_003937	NP_003928	Q16719	KYNU_HUMAN	kynureninase (L-kynurenine hydrolase) isoform a	178					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			skin(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	AACTACAACTTCACGGACTTA	0.303												
ZEB2	9839	broad.mit.edu	37	2	145157300	145157300	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:145157300T>G	uc002tvu.2	-	8	1934	c.1454A>C	c.(1453-1455)AAG>ACG	p.K485T	ZEB2_uc002tvv.2_Missense_Mutation_p.K479T|ZEB2_uc010zbm.1_Missense_Mutation_p.K456T|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.K514T	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	485	SMAD-MH2 binding domain (By similarity).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		ACCTTTCAACTTTGAAATTTC	0.408												
RIF1	55183	broad.mit.edu	37	2	152324542	152324542	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:152324542T>C	uc002txm.2	+	31	6759	c.6629T>C	c.(6628-6630)ATA>ACA	p.I2210T	RIF1_uc002txl.2_Missense_Mutation_p.I2210T|RIF1_uc002txn.2_Missense_Mutation_p.I2210T|RIF1_uc002txo.2_Missense_Mutation_p.I2210T|RIF1_uc002txp.2_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	2210	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GCAGATCCAATATACCAAGCA	0.353												
NR4A2	4929	broad.mit.edu	37	2	157182339	157182339	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:157182339G>A	uc002tyz.3	-	8	2136	c.1714C>T	c.(1714-1716)CGC>TGC	p.R572C	NR4A2_uc002tyx.3_Missense_Mutation_p.R509C|NR4A2_uc010zcf.1_Missense_Mutation_p.R572C	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	572					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						TAGAAAATGCGCTGTAGCCCC	0.488												
FIGN	55137	broad.mit.edu	37	2	164467599	164467599	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:164467599G>A	uc002uck.1	-	3	1054	c.743C>T	c.(742-744)CCG>CTG	p.P248L		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	248	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4						GCTAGCAGACGGATAGCTGTA	0.607												
CSRNP3	80034	broad.mit.edu	37	2	166535234	166535234	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:166535234C>T	uc002udf.2	+	7	1105	c.729C>T	c.(727-729)TGC>TGT	p.C243C	CSRNP3_uc002udg.2_Silent_p.C243C	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	243	Cys-rich.				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|large_intestine(1)|skin(1)	5						CTTTCCCATGCGGCTGCACTA	0.403												
SCN7A	6332	broad.mit.edu	37	2	167262882	167262882	+	Silent	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:167262882G>T	uc002udu.1	-	25	4384	c.4257C>A	c.(4255-4257)ACC>ACA	p.T1419T		NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	1419					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						TGTTGCCAAAGGTTTCAAAAT	0.363												
XIRP2	129446	broad.mit.edu	37	2	168105930	168105930	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:168105930A>G	uc002udx.2	+	8	8046	c.8028A>G	c.(8026-8028)AAA>AAG	p.K2676K	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.K2501K|XIRP2_uc010fpq.2_Silent_p.K2454K|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Silent_p.K22K	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2501					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						GCGAAATTAAACAAAGTCACC	0.378												
LRP2	4036	broad.mit.edu	37	2	170063685	170063685	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:170063685C>T	uc002ues.2	-	39	6758	c.6545G>A	c.(6544-6546)CGT>CAT	p.R2182H		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2182	LDL-receptor class B 21.|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)	AAGAAGAACACGGCGGTAAGT	0.418												
LRP2	4036	broad.mit.edu	37	2	170103435	170103435	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:170103435C>T	uc002ues.2	-	21	3183	c.2970G>A	c.(2968-2970)CCG>CCA	p.P990P	LRP2_uc010zdf.1_Silent_p.P853P	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	990	EGF-like 4.|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)	AATTTGGCACCGGGAAGCAGA	0.542												
GORASP2	26003	broad.mit.edu	37	2	171807902	171807902	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:171807902A>G	uc002ugk.2	+	5	640	c.500A>G	c.(499-501)AAC>AGC	p.N167S	GORASP2_uc002ugj.2_Missense_Mutation_p.N99S|GORASP2_uc010zdl.1_Missense_Mutation_p.N179S|GORASP2_uc010zdm.1_Missense_Mutation_p.N123S|GORASP2_uc002ugl.2_Missense_Mutation_p.N99S	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2	167						Golgi membrane				breast(1)|central_nervous_system(1)	2						TATGTGTACAACACAGACACT	0.388												
HAT1	8520	broad.mit.edu	37	2	172844276	172844276	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:172844276G>T	uc002uhi.2	+	10	1168	c.1092G>T	c.(1090-1092)AAG>AAT	p.K364N	HAT1_uc010fqi.2_Missense_Mutation_p.K199N|HAT1_uc002uhj.2_Missense_Mutation_p.K279N	NM_003642	NP_003633	O14929	HAT1_HUMAN	histone acetyltransferase 1	364					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			large_intestine(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GCCCATATAAGGTAGGACTTT	0.338												
SCRN3	79634	broad.mit.edu	37	2	175263039	175263039	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:175263039G>A	uc002uiq.2	+	2	116	c.28G>A	c.(28-30)GTG>ATG	p.V10M	CIR1_uc002uim.2_5'Flank|CIR1_uc002uin.2_5'Flank|CIR1_uc002uio.2_5'Flank|CIR1_uc002uip.2_5'Flank|SCRN3_uc010zen.1_Intron|SCRN3_uc010zeo.1_Translation_Start_Site|SCRN3_uc002uir.1_RNA	NM_024583	NP_078859	Q0VDG4	SCRN3_HUMAN	secernin 3	10					proteolysis		dipeptidase activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.229)			TGACACTTTCGTGGCATTACC	0.294												
EVX2	344191	broad.mit.edu	37	2	176945561	176945561	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:176945561C>T	uc010zeu.1	-	3	891	c.705G>A	c.(703-705)TGG>TGA	p.W235*		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	even-skipped homeobox 2	235	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		GGTTCTGGAACCACACCTGCG	0.672												
HOXD3	3232	broad.mit.edu	37	2	177036780	177036780	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:177036780C>T	uc002ukt.1	+	3	1253	c.1077C>T	c.(1075-1077)GGC>GGT	p.G359G		NM_006898	NP_008829	P31249	HXD3_HUMAN	homeobox D3	359					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		TGTACGTGGGCGGCAACTTCG	0.697												
HOXD1	3231	broad.mit.edu	37	2	177054563	177054563	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:177054563G>A	uc002ukv.3	+	2	903	c.680G>A	c.(679-681)AGC>AAC	p.S227N	HOXD1_uc010fqy.2_Silent_p.*271*|HOXD1_uc010zez.1_Missense_Mutation_p.S227N	NM_024501	NP_078777	Q9GZZ0	HXD1_HUMAN	homeobox D1	227						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		GGGGCCGCTAGCCCCTCCAGC	0.557												
TTN	7273	broad.mit.edu	37	2	179430621	179430621	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:179430621G>A	uc010zfg.1	-	275	72758	c.72534C>T	c.(72532-72534)AAC>AAT	p.N24178N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.N17873N|TTN_uc010zfi.1_Silent_p.N17806N|TTN_uc010zfj.1_Silent_p.N17681N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	25105							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)			CTTCTGTAAGGTTTTCCACTT	0.398												
TTN	7273	broad.mit.edu	37	2	179438533	179438533	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:179438533C>T	uc010zfg.1	-	275	64846	c.64622G>A	c.(64621-64623)GGC>GAC	p.G21541D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G15236D|TTN_uc010zfi.1_Missense_Mutation_p.G15169D|TTN_uc010zfj.1_Missense_Mutation_p.G15044D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22468							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)			TTTAGCAAAGCCACCAGGATT	0.398												
TTN	7273	broad.mit.edu	37	2	179440424	179440424	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:179440424G>A	uc010zfg.1	-	275	62955	c.62731C>T	c.(62731-62733)CGG>TGG	p.R20911W	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R14606W|TTN_uc010zfi.1_Missense_Mutation_p.R14539W|TTN_uc010zfj.1_Missense_Mutation_p.R14414W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	21838							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)			TAAGATTTCCGTGTTGCTTCA	0.448												
TTN	7273	broad.mit.edu	37	2	179452031	179452031	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:179452031C>T	uc010zfg.1	-	256	56427	c.56203G>A	c.(56203-56205)GTG>ATG	p.V18735M	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V12430M|TTN_uc010zfi.1_Missense_Mutation_p.V12363M|TTN_uc010zfj.1_Missense_Mutation_p.V12238M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19662							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)			CGTTTCTCCACGATATAATGT	0.458												
TTN	7273	broad.mit.edu	37	2	179516199	179516199	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:179516199T>C	uc010zfg.1	-	161	32450	c.32226A>G	c.(32224-32226)CCA>CCG	p.P10742P	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_RNA|TTN_uc002umx.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	11669							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)			GTGGGGCTTCTGGCTTTTTGG	0.478												
TTN	7273	broad.mit.edu	37	2	179596108	179596108	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:179596108C>A	uc010zfg.1	-	56	13877	c.13653G>T	c.(13651-13653)AAG>AAT	p.K4551N	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K1212N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5478							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)			TCCCATCATGCTTGACTTCAA	0.408												
TTN	7273	broad.mit.edu	37	2	179606044	179606044	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:179606044G>A	uc010zfh.1	-	46	11627	c.11403C>T	c.(11401-11403)TTC>TTT	p.F3801F	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Silent_p.F3734F|TTN_uc010zfj.1_Silent_p.F3609F|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTTTTCTTTGAACCATGTAA	0.443												
CCDC141	285025	broad.mit.edu	37	2	179732925	179732925	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:179732925C>T	uc002unf.1	-	6	734	c.677G>A	c.(676-678)CGT>CAT	p.R226H		NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	226							protein binding			ovary(7)|pancreas(2)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTTGATGAGACGTCCCAGCTA	0.418												
CERKL	375298	broad.mit.edu	37	2	182423344	182423344	+	Nonsense_Mutation	SNP	G	G	A	rs121909398	by1000genomes	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:182423344G>A	uc002unx.2	-	6	948	c.847C>T	c.(847-849)CGA>TGA	p.R283*	CERKL_uc002uny.2_Nonsense_Mutation_p.R257*|CERKL_uc010zfm.1_Nonsense_Mutation_p.R239*|CERKL_uc002unz.2_Nonsense_Mutation_p.R5*|CERKL_uc002uoa.2_Intron|CERKL_uc002uob.2_Nonsense_Mutation_p.R5*|CERKL_uc002uoc.2_Intron|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_Nonsense_Mutation_p.R52*|CERKL_uc002uoe.2_Nonsense_Mutation_p.R257*	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	ceramide kinase-like isoform b	283	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GTCAGGATTCGGTCTGTTTCC	0.483												
NEUROD1	4760	broad.mit.edu	37	2	182542664	182542664	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:182542664C>T	uc002uof.2	-	2	1160	c.924G>A	c.(922-924)CTG>CTA	p.L308L	CERKL_uc002uod.1_Intron	NM_002500	NP_002491	Q13562	NDF1_HUMAN	neurogenic differentiation 1	308					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GGGCCCCTGCCAGTGTCGCTG	0.522												
NCKAP1	10787	broad.mit.edu	37	2	183902820	183902820	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:183902820C>T	uc002upc.2	-	1	410	c.8G>A	c.(7-9)CGC>CAC	p.R3H	NCKAP1_uc002upb.2_Missense_Mutation_p.R3H	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1	3					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CAGCACTGAGCGCGACATGGT	0.557												
FAM171B	165215	broad.mit.edu	37	2	187605049	187605049	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:187605049G>A	uc002ups.2	+	2	445	c.333G>A	c.(331-333)AAG>AAA	p.K111K	FAM171B_uc002upr.1_Silent_p.K111K	NM_177454	NP_803237	Q6P995	F171B_HUMAN	KIAA1946	111	Extracellular (Potential).					integral to membrane	DNA binding			ovary(6)|breast(3)|central_nervous_system(1)	10						ACTACACGAAGACAAATTCCA	0.388												
FAM171B	165215	broad.mit.edu	37	2	187615864	187615864	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:187615864T>C	uc002ups.2	+	5	840	c.728T>C	c.(727-729)TTT>TCT	p.F243S	FAM171B_uc002upr.1_Missense_Mutation_p.F243S	NM_177454	NP_803237	Q6P995	F171B_HUMAN	KIAA1946	243	Extracellular (Potential).					integral to membrane	DNA binding			ovary(6)|breast(3)|central_nervous_system(1)	10						TTTATAGGTTTTGAAAACATT	0.308												
COL5A2	1290	broad.mit.edu	37	2	189927974	189927974	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:189927974C>T	uc002uqk.2	-	27	2068	c.1793G>A	c.(1792-1794)CGT>CAT	p.R598H	COL5A2_uc010frx.2_Missense_Mutation_p.R174H	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	598					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AGGACCTGGACGGCCATCTTC	0.512												
STAT4	6775	broad.mit.edu	37	2	191897688	191897688	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:191897688G>A	uc002usm.1	-	21	2294	c.2040C>T	c.(2038-2040)TGC>TGT	p.C680C	STAT4_uc002usn.1_Silent_p.C680C|STAT4_uc010zgk.1_Silent_p.C525C|STAT4_uc002uso.2_Silent_p.C680C	NM_003151	NP_003142	Q14765	STAT4_HUMAN	signal transducer and activator of transcription	680					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CCTAACCTTCGCAAGGCTGAG	0.363												
SDPR	8436	broad.mit.edu	37	2	192701019	192701019	+	Missense_Mutation	SNP	C	C	T	rs146564406		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:192701019C>T	uc002utb.2	-	2	1238	c.908G>A	c.(907-909)CGA>CAA	p.R303Q		NM_004657	NP_004648	O95810	SDPR_HUMAN	serum deprivation response protein	303						caveola|cytosol	phosphatidylserine binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TTCTCCCTCTCGGACTTTCTT	0.483												
MOBKL3	25843	broad.mit.edu	37	2	198415089	198415089	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:198415089G>A	uc002uun.3	+	7	565	c.525G>A	c.(523-525)CGG>CGA	p.R175R	MOBKL3_uc002uum.3_Silent_p.R143R|MOBKL3_uc010fsn.2_Silent_p.R154R|MOBKL3_uc010fso.2_Silent_p.R76R|MOBKL3_uc010zgz.1_Silent_p.R76R	NM_015387	NP_056202	Q9Y3A3	MOBL3_HUMAN	Mps One Binder kinase activator-like 3 isoform	175					transport	Golgi cisterna membrane|perinuclear region of cytoplasm	metal ion binding|protein binding				0			Epithelial(96;0.225)			TTCATCATCGGCAGATATTTG	0.313												
CLK1	1195	broad.mit.edu	37	2	201718647	201718647	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:201718647T>C	uc002uwe.2	-	12	1471	c.1290A>G	c.(1288-1290)TCA>TCG	p.S430S	CLK1_uc002uwd.2_Silent_p.S253S|CLK1_uc010zhi.1_Silent_p.S472S|CLK1_uc002uwf.2_Silent_p.S204S|CLK1_uc002uwg.2_Silent_p.S279S|CLK1_uc010fsv.2_RNA	NM_004071	NP_004062	P49759	CLK1_HUMAN	CDC-like kinase 1 isoform 1	430	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			pancreas(2)	2						TACAGCGTCTTGAAACATATC	0.303												
CASP10	843	broad.mit.edu	37	2	202074183	202074183	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:202074183T>G	uc002uxl.1	+	9	1731	c.1313T>G	c.(1312-1314)CTT>CGT	p.L438R	CASP10_uc002uxj.1_Missense_Mutation_p.L438R|CASP10_uc002uxk.1_Missense_Mutation_p.L395R|CASP10_uc010fta.1_Missense_Mutation_p.L371R|CASP10_uc002uxm.1_Missense_Mutation_p.L395R|CASP10_uc010ftb.1_RNA	NM_032974	NP_116756	Q92851	CASPA_HUMAN	caspase 10 isoform b preproprotein	438					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			skin(3)|ovary(1)|pancreas(1)|breast(1)	6						GACTTCCTACTTGGTCTGGCC	0.522												
ALS2CR4	65062	broad.mit.edu	37	2	202496815	202496815	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:202496815C>T	uc002uyh.1	-	8	613	c.512G>A	c.(511-513)GGC>GAC	p.G171D	ALS2CR4_uc002uyg.1_Missense_Mutation_p.G163D|ALS2CR4_uc010zho.1_5'UTR|ALS2CR4_uc010zhp.1_RNA	NM_001044385	NP_001037850	Q96Q45	TM237_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	195						integral to membrane	protein binding				0						CTGGCTAATGCCAGTGGGTGC	0.398												
NBEAL1	65065	broad.mit.edu	37	2	204037566	204037566	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:204037566A>G	uc002uzt.3	+	40	6559	c.6226A>G	c.(6226-6228)ATG>GTG	p.M2076V	NBEAL1_uc002uzs.3_Missense_Mutation_p.M786V	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1 isoform 3	2076	BEACH.						binding			ovary(1)|skin(1)	2						CGCCAAAGCTATGAGAGAAAA	0.313												
NBEAL1	65065	broad.mit.edu	37	2	204073415	204073415	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:204073415C>T	uc002uzt.3	+	51	7808	c.7475C>T	c.(7474-7476)ACC>ATC	p.T2492I	NBEAL1_uc002uzs.3_Missense_Mutation_p.T1133I|NBEAL1_uc002uzu.2_5'UTR	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1 isoform 3	2492	WD 2.						binding			ovary(1)|skin(1)	2						TATGGACACACCAACGAGGTA	0.403												
PARD3B	117583	broad.mit.edu	37	2	205983664	205983664	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:205983664C>T	uc002var.1	+	7	907	c.700C>T	c.(700-702)CGA>TGA	p.R234*	PARD3B_uc010fub.1_Nonsense_Mutation_p.R234*|PARD3B_uc002vao.1_Nonsense_Mutation_p.R234*|PARD3B_uc002vap.1_Nonsense_Mutation_p.R234*|PARD3B_uc002vaq.1_Nonsense_Mutation_p.R234*	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	234	PDZ 1.				cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ACTCTTCATCCGAGGCATTGA	0.338												
NDUFS1	4719	broad.mit.edu	37	2	207006782	207006782	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:207006782C>T	uc002vbe.2	-	12	1272	c.1145G>A	c.(1144-1146)CGT>CAT	p.R382H	NDUFS1_uc010ziq.1_Missense_Mutation_p.R396H|NDUFS1_uc010zir.1_Missense_Mutation_p.R346H|NDUFS1_uc010zis.1_Missense_Mutation_p.R325H|NDUFS1_uc010zit.1_Missense_Mutation_p.R271H|NDUFS1_uc010ziu.1_Missense_Mutation_p.R266H	NM_005006	NP_004997	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1,	382					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)	ATAATTGGAACGCAAATCTGT	0.338												
GPR1	2825	broad.mit.edu	37	2	207041587	207041587	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:207041587T>C	uc002vbl.3	-	3	771	c.385A>G	c.(385-387)ACA>GCA	p.T129A	GPR1_uc010fue.2_Missense_Mutation_p.T129A|GPR1_uc010fuf.2_Missense_Mutation_p.T129A	NM_005279	NP_005270	P46091	GPR1_HUMAN	G protein-coupled receptor 1	129	Helical; Name=3; (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		CTGATCACTGTCAGGAAAAAA	0.458												
ZDBF2	57683	broad.mit.edu	37	2	207171520	207171520	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:207171520G>A	uc002vbp.2	+	5	2518	c.2268G>A	c.(2266-2268)CCG>CCA	p.P756P		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	756							nucleic acid binding|zinc ion binding			ovary(3)	3						ATTCTGACCCGCCTCTTCTGT	0.418												
CRYGC	1420	broad.mit.edu	37	2	208994365	208994365	+	Missense_Mutation	SNP	C	C	T	rs145041511		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:208994365C>T	uc002vco.3	-	2	90	c.52G>A	c.(52-54)GAA>AAA	p.E18K		NM_020989	NP_066269	P07315	CRGC_HUMAN	crystallin, gamma C	18	Beta/gamma crystallin 'Greek key' 1.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens				0				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GTGGTGGTTTCGTAGCTGCGG	0.522												
PIKFYVE	200576	broad.mit.edu	37	2	209138324	209138324	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:209138324C>T	uc002vcz.2	+	3	347	c.189C>T	c.(187-189)GGC>GGT	p.G63G	PIKFYVE_uc010fun.1_5'UTR|PIKFYVE_uc002vcy.1_Silent_p.G63G|PIKFYVE_uc002vcv.2_Silent_p.G63G|PIKFYVE_uc002vcw.2_Silent_p.G63G|PIKFYVE_uc002vcx.2_Silent_p.G63G	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	63					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						CAGAAGGAGGCCAGGGAGAAC	0.473												
PIKFYVE	200576	broad.mit.edu	37	2	209209854	209209854	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:209209854G>A	uc002vcz.2	+	33	5205	c.5047G>A	c.(5047-5049)GCC>ACC	p.A1683T		NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	1683					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						ATACCGAAATGCCTTAGAGGA	0.338												
C2orf67	151050	broad.mit.edu	37	2	210887888	210887888	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:210887888G>A	uc002vds.2	-	15	2957	c.2749C>T	c.(2749-2751)CGA>TGA	p.R917*	C2orf67_uc002vdt.2_Nonsense_Mutation_p.R875*	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	hypothetical protein LOC151050	917										ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)		AAAGCCCGTCGTTCCCACCAC	0.378												
MYL1	4632	broad.mit.edu	37	2	211179636	211179636	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:211179636T>G	uc002vec.2	-	1	260	c.131A>C	c.(130-132)AAG>ACG	p.K44T		NM_079420	NP_524144	P05976	MYL1_HUMAN	fast skeletal myosin alkali light chain 1	44					muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			ovary(1)	1				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		TTTAGTTACCTTAATGGCAGA	0.318												
CPS1	1373	broad.mit.edu	37	2	211442163	211442163	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:211442163C>T	uc002vee.3	+	4	532	c.400C>T	c.(400-402)CTG>TTG	p.L134L	CPS1_uc010fur.2_Silent_p.L140L	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	134	Anthranilate phosphoribosyltransferase homolog.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TTTGCTGGTGCTGGATTATAG	0.383												
SMARCAL1	50485	broad.mit.edu	37	2	217285159	217285159	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:217285159C>T	uc002vgc.3	+	5	1330	c.1000C>T	c.(1000-1002)CGA>TGA	p.R334*	SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Nonsense_Mutation_p.R334*|SMARCAL1_uc010fvg.2_Nonsense_Mutation_p.R334*	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	SWI/SNF-related matrix-associated	334					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			ovary(3)|breast(3)|skin(1)	7		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TGTCAAAGGGCGATGCATGCT	0.527									Schimke_Immuno-Osseous_Dysplasia			
CXCR2	3579	broad.mit.edu	37	2	219000083	219000083	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:219000083G>A	uc002vgz.1	+	4	784	c.559G>A	c.(559-561)GTC>ATC	p.V187I	CXCR2_uc002vha.1_Missense_Mutation_p.V187I|CXCR2_uc002vhb.1_Missense_Mutation_p.V187I	NM_001557	NP_001548	P25025	CXCR2_HUMAN	interleukin 8 receptor beta	187	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			lung(1)|breast(1)	2						CCGAAGGACCGTCTACTCATC	0.527												
TTLL4	9654	broad.mit.edu	37	2	219614016	219614016	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:219614016C>T	uc002viy.2	+	14	3011	c.2641C>T	c.(2641-2643)CGA>TGA	p.R881*	TTLL4_uc010zkl.1_Nonsense_Mutation_p.R716*|TTLL4_uc010fvx.2_Nonsense_Mutation_p.R817*|TTLL4_uc010zkm.1_Nonsense_Mutation_p.R84*	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	881	TTL.				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			ovary(2)|skin(1)	3		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GATGTATGTGCGACGGCCCTA	0.527												
TTLL4	9654	broad.mit.edu	37	2	219617636	219617636	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:219617636C>T	uc002viy.2	+	17	3497	c.3127C>T	c.(3127-3129)CGA>TGA	p.R1043*	TTLL4_uc010zkl.1_Nonsense_Mutation_p.R878*|TTLL4_uc010fvx.2_Nonsense_Mutation_p.R979*|TTLL4_uc010zkm.1_Nonsense_Mutation_p.R246*	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1043					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			ovary(2)|skin(1)	3		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TGAGCAGCCACGATATTTCAA	0.458												
CYP27A1	1593	broad.mit.edu	37	2	219679346	219679346	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:219679346C>T	uc002viz.3	+	8	1776	c.1342C>T	c.(1342-1344)CGC>TGC	p.R448C		NM_000784	NP_000775	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A,	448					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	CCAGCCCCACCGCTGGCTGAG	0.607												
SPEG	10290	broad.mit.edu	37	2	220347929	220347929	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:220347929G>A	uc010fwg.2	+	30	5744	c.5744G>A	c.(5743-5745)AGT>AAT	p.S1915N		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1915					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCACCCCCCAGTGGGGGGCTC	0.672												
SPEG	10290	broad.mit.edu	37	2	220355154	220355154	+	Missense_Mutation	SNP	C	C	T	rs77554911	by1000genomes	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:220355154C>T	uc010fwg.2	+	37	8945	c.8945C>T	c.(8944-8946)GCG>GTG	p.A2982V		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2982	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GTTGTGCGAGCGTGCCGGGAG	0.662												
GMPPA	29926	broad.mit.edu	37	2	220370455	220370455	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:220370455C>T	uc002vlr.2	+	10	940	c.872C>T	c.(871-873)CCG>CTG	p.P291L	GMPPA_uc002vls.2_Missense_Mutation_p.P291L|GMPPA_uc002vlt.2_Missense_Mutation_p.P344L|GMPPA_uc002vlu.2_Missense_Mutation_p.P344L|GMPPA_uc002vlv.2_Missense_Mutation_p.P291L|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Missense_Mutation_p.P291L	NM_013335	NP_037467	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	291					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TACATCCACCCGACCGCCAAG	0.602												
OBSL1	23363	broad.mit.edu	37	2	220432656	220432656	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:220432656C>T	uc010fwk.2	-	3	1375	c.1318G>A	c.(1318-1320)GTC>ATC	p.V440I	OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Missense_Mutation_p.V440I|OBSL1_uc002vmj.2_Missense_Mutation_p.V27I	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	440					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCTTCCAGGACGTCGAGCTTC	0.632												
KCNE4	23704	broad.mit.edu	37	2	223917920	223917920	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:223917920C>T	uc002vnl.3	+	2	526	c.372C>T	c.(370-372)AGC>AGT	p.S124S		NM_080671	NP_542402	Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related	124	Cytoplasmic (Potential).					integral to membrane	voltage-gated potassium channel activity			ovary(1)	1		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		AAGGGGACAGCGTGAGCTCCG	0.662												
CUL3	8452	broad.mit.edu	37	2	225367719	225367719	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:225367719G>A	uc002vny.2	-	10	1832	c.1448C>T	c.(1447-1449)ACG>ATG	p.T483M	CUL3_uc010zls.1_Missense_Mutation_p.T417M|CUL3_uc010fwy.1_Missense_Mutation_p.T489M|CUL3_uc002vnz.1_5'Flank	NM_003590	NP_003581	Q13618	CUL3_HUMAN	cullin 3	483					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTCATCCATCGTTGTGTTTGA	0.363												
IRS1	3667	broad.mit.edu	37	2	227663053	227663053	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:227663053G>A	uc002voh.3	-	1	454	c.402C>T	c.(400-402)GGC>GGT	p.G134G		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	134	Poly-Gly.|Mediates interaction with PHIP (By similarity).			G -> GG (in Ref. 2; AAB21608).	fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CGCTGCAGCTGCCCCCACCAC	0.667											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
COL4A3	1285	broad.mit.edu	37	2	228175562	228175562	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:228175562G>A	uc002vom.1	+	51	4988	c.4826G>A	c.(4825-4827)CGA>CAA	p.R1609Q	COL4A3_uc002von.1_Intron|COL4A3_uc002voo.1_Intron|COL4A3_uc002vop.1_Intron|uc002voq.1_Intron|uc002vor.1_Intron|COL4A3_uc010fxf.1_Missense_Mutation_p.R25Q	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	1609	Collagen IV NC1.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GAAGAATTCCGAGCCAGCCCA	0.463												
SP110	3431	broad.mit.edu	37	2	231042313	231042313	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:231042313C>T	uc002vqh.3	-	14	1771	c.1531G>A	c.(1531-1533)GCA>ACA	p.A511T	SP110_uc002vqg.3_Missense_Mutation_p.A511T|SP110_uc002vqi.3_Missense_Mutation_p.A511T|SP110_uc010fxk.2_Missense_Mutation_p.A509T|SP110_uc010fxj.2_Missense_Mutation_p.A154T	NM_004509	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein isoform a	511	SAND.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			ovary(2)|breast(2)	4		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		CAGTTCTTTGCGTTCCTTCCT	0.428												
HDAC4	9759	broad.mit.edu	37	2	240056289	240056289	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:240056289A>G	uc002vyk.3	-	10	1821	c.1029T>C	c.(1027-1029)CTT>CTC	p.L343L	HDAC4_uc010fyz.1_Silent_p.L338L|HDAC4_uc010zoa.1_Silent_p.L338L|HDAC4_uc010fza.2_Silent_p.L343L|HDAC4_uc010fyy.2_Silent_p.L295L|HDAC4_uc010znz.1_Silent_p.L226L|HDAC4_uc010fzb.1_RNA	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	343					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TGTAGAGGGGAAGTGGAGCGG	0.627												
ANKMY1	51281	broad.mit.edu	37	2	241463640	241463640	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:241463640G>A	uc002vyz.1	-	7	1456	c.1227C>T	c.(1225-1227)CAC>CAT	p.H409H	ANKMY1_uc002vza.1_Silent_p.H268H|ANKMY1_uc010fzd.1_Silent_p.H498H|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Silent_p.H268H|ANKMY1_uc002vzd.1_Silent_p.H268H|ANKMY1_uc010fze.1_Silent_p.H78H|ANKMY1_uc002vze.2_Silent_p.H170H	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	409							zinc ion binding			central_nervous_system(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GGCCGCCCTCGTGGCTGCCTG	0.637												
ANO7	50636	broad.mit.edu	37	2	242142788	242142788	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:242142788G>A	uc002wax.2	+	9	1029	c.926G>A	c.(925-927)CGC>CAC	p.R309H		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	transmembrane protein 16G isoform NGEP long	309	Cytoplasmic (Potential).					cell junction|chloride channel complex|cytosol	chloride channel activity			pancreas(2)|central_nervous_system(1)	3						CAGGCTCCACGCCTCAACCAG	0.682												
THAP4	51078	broad.mit.edu	37	2	242572343	242572343	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:242572343G>A	uc002wbt.2	-	2	1452	c.1229C>T	c.(1228-1230)TCG>TTG	p.S410L		NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	THAP domain containing 4 isoform 1	410							DNA binding|metal ion binding				0		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GCGGCTGGGCGACAGCAGGCT	0.632												
SIRPA	140885	broad.mit.edu	37	20	1896067	1896067	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:1896067T>C	uc002wfq.2	+	3	762	c.402T>C	c.(400-402)TTT>TTC	p.F134F	SIRPA_uc010zps.1_Silent_p.F114F|SIRPA_uc002wfr.2_Silent_p.F134F|SIRPA_uc002wfs.2_Silent_p.F134F|SIRPA_uc002wft.2_Silent_p.F134F	NM_001040022	NP_001035111	P78324	SHPS1_HUMAN	signal-regulatory protein alpha precursor	134	Ig-like V-type.|Extracellular (Potential).		F -> L.		blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			ovary(1)	1				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		ACGTGGAGTTTAAGTCTGGAG	0.537												
TGM3	7053	broad.mit.edu	37	20	2321186	2321186	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:2321186C>A	uc002wfx.3	+	13	2138	c.2041C>A	c.(2041-2043)CCT>ACT	p.P681T		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	681					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)	CAACAAGTTCCCTGCAATCAA	0.592												
TGM6	343641	broad.mit.edu	37	20	2378638	2378638	+	Silent	SNP	C	C	T	rs111415879		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:2378638C>T	uc002wfy.1	+	5	679	c.618C>T	c.(616-618)ACC>ACT	p.T206T	TGM6_uc010gal.1_Silent_p.T206T	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	206					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)	ACCCAGCCACCGACGTGTCCT	0.582												
GNRH2	2797	broad.mit.edu	37	20	3025167	3025167	+	Missense_Mutation	SNP	G	G	A	rs61729221		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:3025167G>A	uc002whr.1	+	2	158	c.107G>A	c.(106-108)CGA>CAA	p.R36Q	GNRH2_uc002whp.1_Missense_Mutation_p.R36Q|GNRH2_uc002whq.1_Missense_Mutation_p.R36Q|GNRH2_uc010gau.1_Missense_Mutation_p.R36Q|MRPS26_uc002whs.2_5'Flank	NM_001501	NP_001492	O43555	GON2_HUMAN	gonadotropin-releasing hormone 2 isoform a	36					multicellular organismal development|signal transduction	extracellular region|soluble fraction	hormone activity				0						GGAGGAAAGCGAGCCCTCAGC	0.657												
FASTKD5	60493	broad.mit.edu	37	20	3128087	3128087	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:3128087A>G	uc002whz.2	-	2	1941	c.1630T>C	c.(1630-1632)TTG>CTG	p.L544L	uc002whv.1_Intron|UBOX5_uc002whw.2_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Intron	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	544					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity				0						TACCACAGCAATTCAGACCCC	0.453												
ADAM33	80332	broad.mit.edu	37	20	3653476	3653476	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:3653476G>A	uc002wit.2	-	12	1290	c.1203C>T	c.(1201-1203)GGC>GGT	p.G401G	ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Silent_p.G401G|ADAM33_uc002wis.2_5'UTR|ADAM33_uc002wiu.2_Silent_p.G401G|uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_3'UTR|ADAM33_uc010zqh.1_3'UTR	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33 isoform alpha	401	Extracellular (Potential).|Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|ovary(1)|skin(1)	4						GGCAAGCGCCGCCCCCCTTGC	0.731												
SIGLEC1	6614	broad.mit.edu	37	20	3669223	3669223	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:3669223G>A	uc002wja.2	-	21	5114	c.5114C>T	c.(5113-5115)GCC>GTC	p.A1705V	SIGLEC1_uc002wjb.1_3'UTR|SIGLEC1_uc002wiz.3_Missense_Mutation_p.P1681S	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	1705	Cytoplasmic (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						CAGGGGTGGGGCACAGGTTGA	0.587												
CDC25B	994	broad.mit.edu	37	20	3782662	3782662	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:3782662G>A	uc002wjn.2	+	10	1791	c.1013G>A	c.(1012-1014)CGG>CAG	p.R338Q	CDC25B_uc010zqk.1_Missense_Mutation_p.R274Q|CDC25B_uc010zql.1_Missense_Mutation_p.R260Q|CDC25B_uc010zqm.1_Missense_Mutation_p.R247Q|CDC25B_uc002wjl.2_Missense_Mutation_p.R226Q|CDC25B_uc002wjm.2_Missense_Mutation_p.R226Q|CDC25B_uc002wjo.2_Missense_Mutation_p.R324Q|CDC25B_uc002wjp.2_Missense_Mutation_p.R297Q|CDC25B_uc002wjq.2_Missense_Mutation_p.R138Q|CDC25B_uc010gbc.2_5'Flank	NM_021873	NP_068659	P30305	MPIP2_HUMAN	cell division cycle 25B isoform 1	338					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			lung(3)|ovary(2)	5						AGGCTGGAGCGGCCCCAGGAC	0.657												
BMP2	650	broad.mit.edu	37	20	6759451	6759451	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:6759451C>T	uc002wmu.1	+	3	1691	c.906C>T	c.(904-906)TAC>TAT	p.Y302Y		NM_001200	NP_001191	P12643	BMP2_HUMAN	bone morphogenetic protein 2 preproprotein	302					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			ovary(1)|breast(1)	2					Simvastatin(DB00641)	ACCCTTTGTACGTGGACTTCA	0.512												
HAO1	54363	broad.mit.edu	37	20	7886818	7886818	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:7886818G>A	uc002wmw.1	-	4	728	c.704C>T	c.(703-705)GCA>GTA	p.A235V	HAO1_uc010gbu.2_Missense_Mutation_p.A235V	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase 1	235	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			ovary(3)	3						AATGCCCTTTGCAACAATTGG	0.383												
KIF16B	55614	broad.mit.edu	37	20	16360726	16360726	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:16360726G>A	uc002wpg.1	-	19	2079	c.1921C>T	c.(1921-1923)CGC>TGC	p.R641C	KIF16B_uc002wpe.1_Missense_Mutation_p.R23C|KIF16B_uc002wpf.1_Missense_Mutation_p.R23C|KIF16B_uc010gch.1_Missense_Mutation_p.R641C|KIF16B_uc010gci.1_Missense_Mutation_p.R641C|KIF16B_uc010gcj.1_Missense_Mutation_p.R652C	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	641	Glu-rich.|Potential.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						GTCTCCTTGCGCTGGGTCTCC	0.507												
ZNF133	7692	broad.mit.edu	37	20	18295989	18295989	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:18295989C>T	uc010gcq.2	+	5	799	c.494C>T	c.(493-495)GCG>GTG	p.A165V	ZNF133_uc010zrv.1_Missense_Mutation_p.A168V|ZNF133_uc010zrw.1_Missense_Mutation_p.A102V|ZNF133_uc010gcr.2_Missense_Mutation_p.A165V|ZNF133_uc010zrx.1_Missense_Mutation_p.A70V|ZNF133_uc002wql.3_Missense_Mutation_p.A164V|ZNF133_uc010gcs.2_Missense_Mutation_p.A164V|ZNF133_uc010zry.1_Missense_Mutation_p.A70V|ZNF133_uc002wqm.2_Missense_Mutation_p.A165V	NM_003434	NP_003425	P52736	ZN133_HUMAN	zinc finger protein 133	165						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)	2						ACTCTGGGAGCGTTCTCCAGG	0.587												
SLC24A3	57419	broad.mit.edu	37	20	19496186	19496186	+	Missense_Mutation	SNP	C	C	T	rs144636987		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:19496186C>T	uc002wrl.2	+	3	523	c.326C>T	c.(325-327)GCG>GTG	p.A109V		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	109	Helical; (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1						AGACAAGGTGCGGTGGTCCTC	0.542												
DNMT3B	1789	broad.mit.edu	37	20	31387092	31387092	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:31387092C>T	uc002wyc.2	+	16	2038	c.1717C>T	c.(1717-1719)CGG>TGG	p.R573W	DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Missense_Mutation_p.R553W|DNMT3B_uc002wye.2_Missense_Mutation_p.R553W|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Missense_Mutation_p.R511W|DNMT3B_uc010zua.1_Missense_Mutation_p.R477W|DNMT3B_uc002wyf.2_Missense_Mutation_p.R565W|DNMT3B_uc002wyg.2_Missense_Mutation_p.R272W|DNMT3B_uc010geg.2_5'Flank|DNMT3B_uc010geh.2_5'Flank	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	573					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			lung(3)|ovary(2)	5						AGCCCGAAGGCGGCCCATTCG	0.582												
ZNF341	84905	broad.mit.edu	37	20	32341075	32341075	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:32341075C>A	uc002wzy.2	+	5	607	c.587C>A	c.(586-588)CCT>CAT	p.P196H	ZNF341_uc002wzx.2_Missense_Mutation_p.P196H|ZNF341_uc010geq.2_Missense_Mutation_p.P106H|ZNF341_uc010ger.2_RNA	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						ccacctcagcctccaccacct	0.438												
CEP250	11190	broad.mit.edu	37	20	34055233	34055233	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:34055233C>A	uc002xcm.2	+	10	1375	c.704C>A	c.(703-705)TCT>TAT	p.S235Y	CEP250_uc010zve.1_Translation_Start_Site|CEP250_uc010zvd.1_RNA|CEP250_uc002xco.2_Missense_Mutation_p.S42Y	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	235					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CCCAACGGATCTGGAAGAATG	0.562												
RBM39	9584	broad.mit.edu	37	20	34312604	34312604	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:34312604C>A	uc002xeb.2	-	8	919	c.575G>T	c.(574-576)CGT>CTT	p.R192L	RBM39_uc002xdz.2_Missense_Mutation_p.R168L|RBM39_uc002xea.2_Missense_Mutation_p.R35L|RBM39_uc010gfn.2_Missense_Mutation_p.R35L|RBM39_uc010zvm.1_Missense_Mutation_p.R170L|RBM39_uc002xeg.2_Missense_Mutation_p.R170L|RBM39_uc002xec.2_Missense_Mutation_p.R192L|RBM39_uc002xed.2_5'UTR|RBM39_uc002xee.2_Missense_Mutation_p.R35L|RBM39_uc002xef.2_Missense_Mutation_p.R35L|RBM39_uc010zvn.1_Missense_Mutation_p.R35L	NM_184234	NP_909122	Q14498	RBM39_HUMAN	RNA binding motif protein 39 isoform a	192	RRM 1.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TCCTTTGGAACGTCTTGAATT	0.398												
C20orf132	140699	broad.mit.edu	37	20	35749348	35749348	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:35749348G>T	uc010zvu.1	-	18	2189	c.2098C>A	c.(2098-2100)CTG>ATG	p.L700M	C20orf132_uc002xgk.2_Missense_Mutation_p.L322M	NM_152503	NP_689716	Q9H579	CT132_HUMAN	hypothetical protein LOC140699 isoform 1	Error:Variant_position_missing_in_Q9H579_after_alignment											0		Myeloproliferative disorder(115;0.00878)				TTTCCTCCCAGGAGAGCCCAT	0.453												
PLCG1	5335	broad.mit.edu	37	20	39791298	39791298	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:39791298G>A	uc002xjp.1	+	6	735	c.614G>A	c.(613-615)AGC>AAC	p.S205N	PLCG1_uc002xjo.1_Missense_Mutation_p.S205N|PLCG1_uc010zwe.1_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	205					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				GAGCAGCGCAGCGGGGACATC	0.632												
CHD6	84181	broad.mit.edu	37	20	40081533	40081533	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:40081533T>C	uc002xka.1	-	21	3348	c.3170A>G	c.(3169-3171)TAC>TGC	p.Y1057C		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1057					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				AAACGAGTTGTAGTGTTTGGT	0.498												
TTPAL	79183	broad.mit.edu	37	20	43115284	43115284	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:43115284C>T	uc002xmc.1	+	5	812	c.688C>T	c.(688-690)CGA>TGA	p.R230*	TTPAL_uc002xmd.1_Nonsense_Mutation_p.R230*|TTPAL_uc010ggr.1_Nonsense_Mutation_p.R43*	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	230	CRAL-TRIO.					intracellular	transporter activity			breast(1)	1						GAATGAACCTCGAATATTTAA	0.388												
SERINC3	10955	broad.mit.edu	37	20	43141456	43141456	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:43141456C>T	uc002xme.2	-	3	515	c.381G>A	c.(379-381)GCG>GCA	p.A127A	SERINC3_uc002xmf.1_Silent_p.A127A|SERINC3_uc010ggs.1_Silent_p.A120A|SERINC3_uc010zwp.1_Silent_p.A72A	NM_198941	NP_945179	Q13530	SERC3_HUMAN	tumor differentially expressed protein 1	127	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein binding			skin(3)	3		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			TGTGTACTGCCGCTCGGAGAT	0.388												
PKIG	11142	broad.mit.edu	37	20	43243338	43243338	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:43243338C>T	uc002xmg.2	+	5	670	c.141C>T	c.(139-141)CTC>CTT	p.L47L	PKIG_uc002xmh.2_Silent_p.L47L|PKIG_uc002xmi.2_Silent_p.L47L	NM_181805	NP_861521	Q9Y2B9	IPKG_HUMAN	cAMP-dependent protein kinase inhibitor gamma	47							cAMP-dependent protein kinase inhibitor activity|protein binding				0		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)			AGCTGGCACTCGAGGGGGCAG	0.647												
ADA	100	broad.mit.edu	37	20	43249692	43249692	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:43249692G>A	uc002xmj.2	-	10	1070	c.942C>T	c.(940-942)GAC>GAT	p.D314D	ADA_uc010ggt.2_RNA	NM_000022	NP_000013	P00813	ADA_HUMAN	adenosine deaminase	314					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			pancreas(2)|ovary(1)	3		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	TAAAGCCCATGTCCCGTTTGG	0.512									Adenosine_Deaminase_Deficiency			
MATN4	8785	broad.mit.edu	37	20	43926908	43926908	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:43926908C>T	uc002xnn.2	-	7	1515	c.1328G>A	c.(1327-1329)CGG>CAG	p.R443Q	MATN4_uc002xno.2_Missense_Mutation_p.R402Q|MATN4_uc002xnp.2_Missense_Mutation_p.R361Q|MATN4_uc010zwr.1_Missense_Mutation_p.R391Q|MATN4_uc002xnr.1_Missense_Mutation_p.R443Q	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	484	VWFA 2.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)				GGCACGGGGCCGTGCACCCTG	0.667												
SLC9A8	23315	broad.mit.edu	37	20	48431697	48431697	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:48431697T>C	uc002xuv.1	+	2	389	c.179T>C	c.(178-180)ATG>ACG	p.M60T	SLC9A8_uc010zym.1_5'UTR|SLC9A8_uc010zyj.1_Missense_Mutation_p.M60T|SLC9A8_uc010zyk.1_Missense_Mutation_p.M60T|SLC9A8_uc010zyl.1_Missense_Mutation_p.M60T|SLC9A8_uc010gib.1_Missense_Mutation_p.M60T	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	sodium/hydrogen exchanger 8	60	Helical; (Potential).					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TCCAGCGGCATGACCATTTTC	0.582												
CYP24A1	1591	broad.mit.edu	37	20	52789528	52789528	+	Silent	SNP	G	G	A	rs114334215	by1000genomes	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:52789528G>A	uc002xwv.2	-	2	767	c.369C>T	c.(367-369)AGC>AGT	p.S123S	CYP24A1_uc002xwu.1_5'Flank|CYP24A1_uc002xww.2_Silent_p.S123S	NM_000782	NP_000773	Q07973	CP24A_HUMAN	cytochrome P450 family 24 subfamily A	123					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GCGGGTACGCGCTCTCGGTGC	0.587												
ZBP1	81030	broad.mit.edu	37	20	56191408	56191408	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:56191408G>A	uc002xyo.2	-	2	432	c.151C>T	c.(151-153)CGA>TGA	p.R51*	ZBP1_uc010gjm.2_Nonsense_Mutation_p.R51*|ZBP1_uc002xyp.2_Intron|ZBP1_uc010zzn.1_Nonsense_Mutation_p.R51*	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1 isoform a	51	DRADA 1.					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			ovary(2)	2	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TTTTTCATTCGGTAGAGGACT	0.582												
RAB22A	57403	broad.mit.edu	37	20	56918855	56918855	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:56918855A>G	uc002xyz.2	+	3	460	c.198A>G	c.(196-198)CGA>CGG	p.R66R		NM_020673	NP_065724	Q9UL26	RB22A_HUMAN	RAS-related protein RAB-22A	66					endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction	early endosome|endosome membrane|plasma membrane	GTP binding|GTPase activity|protein binding				0	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			GACAAGAACGAGTAAGTCACT	0.398												
GNAS	2778	broad.mit.edu	37	20	57484420	57484420	+	Missense_Mutation	SNP	C	C	T	rs11554273		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:57484420C>T	uc002xzw.2	+	8	2815	c.2530C>T	c.(2530-2532)CGT>TGT	p.R844C	GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Missense_Mutation_p.R142C|GNAS_uc002xzx.2_Missense_Mutation_p.R142C|GNAS_uc010gjr.2_Missense_Mutation_p.R92C|GNAS_uc002xzy.2_Missense_Mutation_p.R127C|GNAS_uc002yaa.2_Missense_Mutation_p.R187C|GNAS_uc010zzt.1_Missense_Mutation_p.R202C|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Missense_Mutation_p.R92C|GNAS_uc002yae.2_Missense_Mutation_p.R126C	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	201	GTP (By similarity).		R -> L (in non-MAS endocrine tumors).|R -> S (in AIMAH, pituitary tumor and polyostotic fibrous dysplasia).|R -> H (in MAS, somatotrophinoma and AIMAH).|R -> G (in MAS).		activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.R201C(182)|p.R201S(5)		pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCTTCGCTGCCGTGTCCTGAC	0.428			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)		
LAMA5	3911	broad.mit.edu	37	20	60902996	60902996	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:60902996G>A	uc002ycq.2	-	36	4790	c.4723C>T	c.(4723-4725)CGC>TGC	p.R1575C		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	1575	Laminin EGF-like 14.				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)	TCACAGGGGCGGCAGCGGGGG	0.682												
ARFGAP1	55738	broad.mit.edu	37	20	61908657	61908657	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:61908657G>A	uc002yem.2	+	5	555	c.443G>A	c.(442-444)CGA>CAA	p.R148Q	ARFGAP1_uc011aas.1_Missense_Mutation_p.R95Q|ARFGAP1_uc011aat.1_Intron|ARFGAP1_uc002yel.2_Missense_Mutation_p.R148Q|ARFGAP1_uc002yen.2_Missense_Mutation_p.R148Q	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating	148					COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			pancreas(1)	1	all_cancers(38;1.59e-09)					ATGGTGCACCGGTAGCTGCTC	0.577												
COL20A1	57642	broad.mit.edu	37	20	61938964	61938964	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:61938964G>A	uc011aau.1	+	6	719	c.619G>A	c.(619-621)GCA>ACA	p.A207T	COL20A1_uc011aav.1_Missense_Mutation_p.A28T	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	207	VWFA.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					CAGTGTCATCGCACCCTTTGA	0.652												
COL20A1	57642	broad.mit.edu	37	20	61944569	61944569	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:61944569G>A	uc011aau.1	+	17	2277	c.2177G>A	c.(2176-2178)CGC>CAC	p.R726H	COL20A1_uc011aav.1_Missense_Mutation_p.R547H	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	726	Fibronectin type-III 5.				cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					GACGGGGCCCGCAGTGACCCT	0.657												
KCNQ2	3785	broad.mit.edu	37	20	62046276	62046276	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:62046276G>A	uc002yey.1	-	13	1682	c.1505C>T	c.(1504-1506)GCG>GTG	p.A502V	KCNQ2_uc002yez.1_Missense_Mutation_p.A472V|KCNQ2_uc002yfa.1_Missense_Mutation_p.A484V|KCNQ2_uc002yfb.1_Missense_Mutation_p.A474V	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	502	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CTGCCGTGACGCGGCACCCTT	0.672												
EEF1A2	1917	broad.mit.edu	37	20	62126389	62126389	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:62126389A>G	uc002yfd.1	-	3	491	c.390T>C	c.(388-390)AAT>AAC	p.N130N	EEF1A2_uc002yfe.1_Silent_p.N130N|EEF1A2_uc010gkg.1_Silent_p.N130N	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha	130						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GCGTCTGCCCATTCTTGGAGA	0.677												
PRIC285	85441	broad.mit.edu	37	20	62198376	62198376	+	Missense_Mutation	SNP	G	G	T	rs138788557		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:62198376G>T	uc002yfm.2	-	7	3227	c.2335C>A	c.(2335-2337)CCG>ACG	p.P779T	PRIC285_uc002yfl.1_Missense_Mutation_p.P210T	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	779					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			AACATGAGCGGGTAGTGCCGG	0.647												
ZBTB46	140685	broad.mit.edu	37	20	62421541	62421541	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:62421541G>A	uc002ygv.1	-	2	771	c.570C>T	c.(568-570)CAC>CAT	p.H190H	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					TCCCTCCGTCGTGACAGCTGG	0.622												
NPBWR2	2832	broad.mit.edu	37	20	62737451	62737451	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:62737451C>T	uc011abt.1	-	1	734	c.734G>A	c.(733-735)CGC>CAC	p.R245H		NM_005286	NP_005277	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	245	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)					GGCTCCAGAGCGGAGCCGCAC	0.667												
TMPRSS15	5651	broad.mit.edu	37	21	19653413	19653413	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:19653413C>T	uc002ykw.2	-	22	2643	c.2612G>A	c.(2611-2613)CGA>CAA	p.R871Q		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	871	Extracellular (Potential).|Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						GTCCTTTCTTCGCCTATTGTA	0.363												
ADAMTS1	9510	broad.mit.edu	37	21	28210023	28210023	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:28210023C>T	uc002ymf.2	-	9	3234	c.2779G>A	c.(2779-2781)GGT>AGT	p.G927S		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	927	TSP type-1 3.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		TTTTTGTAACCCTTCCCACAG	0.483												
RNF160	26046	broad.mit.edu	37	21	30359239	30359239	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:30359239C>T	uc002ymr.2	-	2	210	c.197G>A	c.(196-198)CGA>CAA	p.R66Q	RNF160_uc010gll.1_RNA	NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	20							ligase activity|zinc ion binding				0						TTCTGCAGCTCGGCCACTGTT	0.433												
KRTAP24-1	643803	broad.mit.edu	37	21	31654858	31654858	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:31654858G>A	uc002ynv.2	-	1	419	c.393C>T	c.(391-393)TGC>TGT	p.C131C		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	131						keratin filament	structural molecule activity				0						TGGGTATGTGGCAATTGCATA	0.363												
KRTAP19-6	337973	broad.mit.edu	37	21	31914005	31914005	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:31914005C>T	uc002yok.1	-	1	177	c.148G>A	c.(148-150)GAA>AAA	p.E50K		NM_181612	NP_853643	Q3LI70	KR196_HUMAN	keratin associated protein 19-6	50						intermediate filament					0						CCATATCCTTCACGGCATGAT	0.488												
TIAM1	7074	broad.mit.edu	37	21	32639198	32639198	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:32639198G>A	uc002yow.1	-	5	563	c.91C>T	c.(91-93)CGC>TGC	p.R31C	TIAM1_uc011adk.1_Missense_Mutation_p.R31C|TIAM1_uc011adl.1_Missense_Mutation_p.R31C|TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	31					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						TGCGAGAGGCGCAGGGAGCGG	0.582												
C21orf59	56683	broad.mit.edu	37	21	33982197	33982197	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:33982197G>A	uc002yqc.2	-	2	371	c.258C>T	c.(256-258)AGC>AGT	p.S86S	C21orf59_uc002ypx.1_5'Flank|C21orf59_uc002ypy.1_Silent_p.S86S|C21orf59_uc002ypz.1_Silent_p.S86S|C21orf59_uc010glx.2_Missense_Mutation_p.A10V|C21orf59_uc002yqd.2_Silent_p.S86S|C21orf59_uc002yqb.3_Silent_p.S86S|C21orf59_uc011adr.1_Intron	NM_021254	NP_067077	P57076	CU059_HUMAN	hypothetical protein LOC56683	86						cytosol|nucleus					0						CTGCACCTCCGCTGGGTACGC	0.418												
DONSON	29980	broad.mit.edu	37	21	34950737	34950737	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:34950737T>C	uc002ysk.2	-	10	1644	c.1577A>G	c.(1576-1578)AAG>AGG	p.K526R	DONSON_uc002ysi.1_Missense_Mutation_p.K286R|DONSON_uc002ysj.2_Missense_Mutation_p.K159R|DONSON_uc002ysl.2_Missense_Mutation_p.K159R|DONSON_uc010gme.2_Missense_Mutation_p.K499R|DONSON_uc002ysm.2_Missense_Mutation_p.K526R	NM_017613	NP_060083	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	526					multicellular organismal development	nucleus				ovary(1)|central_nervous_system(1)	2						AGTAAGCTCCTTATGAACAAC	0.388												
PSMG1	8624	broad.mit.edu	37	21	40550511	40550511	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:40550511G>A	uc002yxi.2	-	5	648	c.519C>T	c.(517-519)ACC>ACT	p.T173T	PSMG1_uc002yxj.2_Silent_p.T152T|PSMG1_uc010gob.2_Silent_p.T86T	NM_003720	NP_003711	O95456	PSMG1_HUMAN	Down syndrome critical region protein 2 isoform	173					proteasome assembly	endoplasmic reticulum	protein binding				0		Prostate(19;8.44e-08)				TTTTATAATCGGTAACATGTC	0.368												
DSCAM	1826	broad.mit.edu	37	21	41414322	41414322	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:41414322C>T	uc002yyq.1	-	32	6114	c.5662G>A	c.(5662-5664)GCA>ACA	p.A1888T	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1888	Cytoplasmic (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTTGGAACTGCCATATTCATT	0.572												
DSCAM	1826	broad.mit.edu	37	21	41496241	41496241	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:41496241C>T	uc002yyq.1	-	20	4029	c.3577G>A	c.(3577-3579)GCG>ACG	p.A1193T	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1193	Fibronectin type-III 4.|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)				TTCACACCCGCGGGAGGACCT	0.597												
PRDM15	63977	broad.mit.edu	37	21	43256665	43256665	+	Silent	SNP	G	G	A	rs148897785	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:43256665G>A	uc002yzq.1	-	16	2304	c.2193C>T	c.(2191-2193)CTC>CTT	p.L731L	PRDM15_uc002yzo.2_Silent_p.L402L|PRDM15_uc002yzp.2_Silent_p.L402L|PRDM15_uc002yzr.1_Silent_p.L402L	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	731					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGTGCTCCCCGAGCTGTTTGA	0.547												
C2CD2	25966	broad.mit.edu	37	21	43327823	43327823	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:43327823C>T	uc002yzw.2	-	9	1331	c.1089G>A	c.(1087-1089)ACG>ACA	p.T363T	C2CD2_uc002yzt.2_5'UTR|C2CD2_uc002yzu.2_Silent_p.T195T|C2CD2_uc002yzv.2_Silent_p.T208T|C2CD2_uc002yzx.1_Silent_p.T208T	NM_015500	NP_056315	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2 isoform	363						cytosol|extracellular region|nucleus				ovary(1)	1						CGCTGGTCAGCGTGAAGCTCT	0.647												
TRAPPC10	7109	broad.mit.edu	37	21	45478985	45478985	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:45478985A>G	uc002zea.2	+	6	849	c.680A>G	c.(679-681)GAG>GGG	p.E227G	TRAPPC10_uc010gpo.2_5'UTR|TRAPPC10_uc002zdz.2_Missense_Mutation_p.E227G	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	227					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2						GGCGAATAGGAGGAGCTTGCC	0.448												
ICOSLG	23308	broad.mit.edu	37	21	45655435	45655435	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:45655435G>A	uc002zee.2	-	4	551	c.417C>T	c.(415-417)AGC>AGT	p.S139S	ICOSLG_uc011afc.1_Silent_p.S49S|ICOSLG_uc002zef.2_Silent_p.S22S|ICOSLG_uc010gpp.1_Silent_p.S139S	NM_015259	NP_056074	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand precursor	139	Extracellular (Potential).				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding				0				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		CGACGGGCACGCTGAAGTTTG	0.597												
DNMT3L	29947	broad.mit.edu	37	21	45679416	45679416	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:45679416G>A	uc002zeg.1	-	5	732	c.248C>T	c.(247-249)GCC>GTC	p.A83V	DNMT3L_uc002zeh.1_Missense_Mutation_p.A83V	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	cytosine-5-methyltransferase 3-like protein	83	ADD.				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			skin(2)	2				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		CAGGAAGAGGGCATCCAGGAA	0.587												
COL18A1	80781	broad.mit.edu	37	21	46895395	46895395	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:46895395C>T	uc011afs.1	+	4	2010	c.1989C>T	c.(1987-1989)TCC>TCT	p.S663S	COL18A1_uc002zhg.2_Silent_p.S248S|COL18A1_uc002zhi.2_Silent_p.S428S	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	663	Nonhelical region 1 (NC1).			S -> F (in Ref. 1; AAC39658/AAC39659).	cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTCAGGCATCCGGAGACTCTG	0.692												
MCM3AP	8888	broad.mit.edu	37	21	47666772	47666772	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:47666772G>A	uc002zir.1	-	21	4355	c.4319C>T	c.(4318-4320)GCC>GTC	p.A1440V	MCM3APAS_uc002zim.2_Intron|MCM3APAS_uc002zin.2_Intron|MCM3AP_uc002zio.1_5'UTR|MCM3AP_uc002zip.1_Missense_Mutation_p.A181V|MCM3AP_uc002ziq.1_Missense_Mutation_p.A367V|MCM3APAS_uc002zis.1_Intron	NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	1440					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					AGCATCAATGGCACCATCACT	0.577												
PCNT	5116	broad.mit.edu	37	21	47786513	47786513	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:47786513G>A	uc002zji.3	+	15	2731	c.2624G>A	c.(2623-2625)CGT>CAT	p.R875H	PCNT_uc002zjj.2_Missense_Mutation_p.R757H	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	875					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					TTAGAGGAACGTAAAGAGATC	0.517												
PCNT	5116	broad.mit.edu	37	21	47801609	47801609	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr21:47801609G>T	uc002zji.3	+	16	3273	c.3166G>T	c.(3166-3168)GGT>TGT	p.G1056C	PCNT_uc002zjj.2_Missense_Mutation_p.G938C	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	1056	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					ATGTGTACAGGGTGAATTTGG	0.408												
CECR2	27443	broad.mit.edu	37	22	18021966	18021966	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:18021966G>T	uc010gqw.1	+	15	2194	c.2068G>T	c.(2068-2070)GGG>TGG	p.G690W	CECR2_uc010gqv.1_Missense_Mutation_p.G549W|CECR2_uc002zml.2_Missense_Mutation_p.G549W	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	732					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		CTTGCAGCTTGGGCAGATAAG	0.612												
DGCR2	9993	broad.mit.edu	37	22	19055688	19055688	+	Missense_Mutation	SNP	G	G	A	rs147748890	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:19055688G>A	uc002zoq.1	-	3	501	c.253C>T	c.(253-255)CGG>TGG	p.R85W	DGCR2_uc002zor.1_5'UTR|DGCR2_uc011agr.1_Missense_Mutation_p.R44W	NM_005137	NP_005128	P98153	IDD_HUMAN	integral membrane protein DGCR2 precursor	85	Extracellular (Potential).				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			large_intestine(1)	1	Colorectal(54;0.0993)					CGCCCCTGCCGCGGATCCACA	0.627												
TBX1	6899	broad.mit.edu	37	22	19766891	19766891	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:19766891C>T	uc002zqb.2	+	9	1287	c.1158C>T	c.(1156-1158)GGC>GGT	p.G386G	TBX1_uc002zqc.2_Intron	NM_080646	NP_542377	O43435	TBX1_HUMAN	T-box 1 isoform A	386					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|breast(1)	2	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				ATACCCAGGGCCTGGTGGCTG	0.592												
LZTR1	8216	broad.mit.edu	37	22	21348040	21348040	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:21348040T>C	uc002zto.2	+	12	1453	c.1350T>C	c.(1348-1350)GGT>GGC	p.G450G	LZTR1_uc002ztn.2_Silent_p.G409G|LZTR1_uc011ahy.1_Silent_p.G431G|LZTR1_uc010gsr.1_Silent_p.G321G|LZTR1_uc002ztp.2_5'Flank	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	450	Kelch 6.|BTB 1.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			ovary(2)|lung(2)	4	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-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;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TCGTGCTGGGTGAGGTGGGTG	0.627												
SLC7A4	6545	broad.mit.edu	37	22	21385717	21385717	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:21385717C>T	uc002zud.2	-	2	453	c.385G>A	c.(385-387)GGT>AGT	p.G129S	SLC7A4_uc002zue.2_Missense_Mutation_p.G129S	NM_004173	NP_004164	O43246	CTR4_HUMAN	solute carrier family 7 (cationic amino acid	129	Helical; (Potential).				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			ovary(1)|lung(1)	2	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCGGCGCCACCGATGATGTAT	0.602												
CRYBB3	1417	broad.mit.edu	37	22	25597378	25597378	+	Silent	SNP	C	C	T	rs149884520		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:25597378C>T	uc003abo.1	+	2	87	c.15C>T	c.(13-15)CAC>CAT	p.H5H		NM_004076	NP_004067	P26998	CRBB3_HUMAN	crystallin, beta B3	5	N-terminal arm.				visual perception		protein binding|structural constituent of eye lens				0						CGGAACAGCACGGAGCACCCG	0.597												
ADRBK2	157	broad.mit.edu	37	22	26118325	26118325	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:26118325C>T	uc003abx.3	+	21	2122	c.1975C>T	c.(1975-1977)CGT>TGT	p.R659C	ADRBK2_uc003aby.3_RNA	NM_005160	NP_005151	P35626	ARBK2_HUMAN	beta-adrenergic receptor kinase 2	659							ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	p.R659P(1)		lung(3)|ovary(2)|stomach(1)|central_nervous_system(1)	7					Adenosine triphosphate(DB00171)	GCGGCTATTGCGTCGTGCCCC	0.542												
OSM	5008	broad.mit.edu	37	22	30660414	30660414	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:30660414G>A	uc003ahb.2	-	3	269	c.217C>T	c.(217-219)CAC>TAC	p.H73Y		NM_020530	NP_065391	P13725	ONCM_HUMAN	oncostatin M precursor	73					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			skin(1)	1			Epithelial(10;0.206)			TCCCTGCAGTGCTCTCTCAGT	0.602												
OSBP2	23762	broad.mit.edu	37	22	31302243	31302243	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:31302243G>A	uc003aiy.1	+	14	2772	c.2668G>A	c.(2668-2670)GGG>AGG	p.G890R	OSBP2_uc011ala.1_Missense_Mutation_p.G724R|OSBP2_uc010gwc.1_Missense_Mutation_p.G717R|OSBP2_uc011alb.1_3'UTR|OSBP2_uc003aiz.1_Missense_Mutation_p.G889R|OSBP2_uc003aja.1_Missense_Mutation_p.G523R|OSBP2_uc011alc.1_Missense_Mutation_p.G633R|OSBP2_uc003ajb.2_Missense_Mutation_p.G435R|OSBP2_uc011ald.1_Missense_Mutation_p.G434R|OSBP2_uc010gwd.1_3'UTR	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2 isoform a	890					lipid transport	membrane	lipid binding			breast(1)|skin(1)	2						TCCGCTGACCGGGGAGATGGC	0.612												
PLA2G3	50487	broad.mit.edu	37	22	31533732	31533732	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:31533732C>A	uc003aka.2	-	4	1159	c.1030G>T	c.(1030-1032)GGC>TGC	p.G344C		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III precursor	344					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity				0						CCCTGGAGGCCTGTGGGGGCC	0.617												
PISD	23761	broad.mit.edu	37	22	32017778	32017778	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:32017778C>T	uc003alm.3	-	4	422	c.415G>A	c.(415-417)GTC>ATC	p.V139I	PISD_uc003alk.2_Missense_Mutation_p.V105I|PISD_uc003all.2_Missense_Mutation_p.V104I|PISD_uc011alr.1_Missense_Mutation_p.V104I|PISD_uc003aln.3_Missense_Mutation_p.V139I	NM_014338	NP_055153	Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	139					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(2)|ovary(1)	3					Phosphatidylserine(DB00144)	AGGCTGTAGACGGGCCTGCGC	0.607												
TOM1	10043	broad.mit.edu	37	22	35719087	35719087	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:35719087G>A	uc003ann.2	+	4	408	c.283G>A	c.(283-285)GTG>ATG	p.V95M	TOM1_uc011ami.1_Missense_Mutation_p.V62M|TOM1_uc011amj.1_Translation_Start_Site|TOM1_uc003ans.2_Translation_Start_Site|TOM1_uc011amk.1_Missense_Mutation_p.V57M|TOM1_uc003anp.2_Missense_Mutation_p.V95M|TOM1_uc011aml.1_Missense_Mutation_p.V95M|TOM1_uc003ano.2_RNA|TOM1_uc003anq.2_Missense_Mutation_p.V89M|TOM1_uc003anr.2_Translation_Start_Site	NM_005488	NP_005479	O60784	TOM1_HUMAN	target of myb1 isoform 1	95	VHS.				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			ovary(1)	1						CCAGGACTTCGTGGAGAGTGT	0.602												
MYH9	4627	broad.mit.edu	37	22	36680552	36680552	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:36680552C>T	uc003apg.2	-	39	5720	c.5489G>A	c.(5488-5490)CGC>CAC	p.R1830H		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1830	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						GGCTGCCTGGCGCTCCCTGCA	0.622			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated			
MYH9	4627	broad.mit.edu	37	22	36684927	36684927	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:36684927G>A	uc003apg.2	-	33	4847	c.4616C>T	c.(4615-4617)ACG>ATG	p.T1539M		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1539	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						TTCCAGCTGCGTCTTCATCTC	0.627			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated			
MYH9	4627	broad.mit.edu	37	22	36689446	36689446	+	Missense_Mutation	SNP	G	G	A	rs147901502	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:36689446G>A	uc003apg.2	-	30	4255	c.4024C>T	c.(4024-4026)CGG>TGG	p.R1342W		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1342	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						AGCTGCTCCCGGAAGGAATTC	0.632			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated			
SH3BP1	23616	broad.mit.edu	37	22	38040646	38040646	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:38040646C>T	uc003ati.2	+	8	732	c.621C>T	c.(619-621)GAC>GAT	p.D207D	SH3BP1_uc003atg.1_RNA|SH3BP1_uc011anl.1_Silent_p.D207D|SH3BP1_uc003ath.1_Silent_p.D207D|SH3BP1_uc003atj.1_Silent_p.D143D|SH3BP1_uc003atk.1_Silent_p.D121D|uc003atl.1_Intron	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	207	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					TCCCCAAGGACGAGTACTTGG	0.428												
KCNJ4	3761	broad.mit.edu	37	22	38824122	38824122	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:38824122G>A	uc003avs.1	-	2	113	c.16C>T	c.(16-18)CGC>TGC	p.R6C	KCNJ4_uc003avt.1_Missense_Mutation_p.R6C	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	6	Cytoplasmic (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)					TGGCCGTTGCGGCTGTGTCCG	0.657												
GTPBP1	9567	broad.mit.edu	37	22	39112791	39112791	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:39112791G>A	uc003awg.2	+	4	774	c.620G>A	c.(619-621)CGC>CAC	p.R207H		NM_004286	NP_004277	O00178	GTPB1_HUMAN	GTP binding protein 1	207					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			ovary(1)	1	Melanoma(58;0.04)					GAATCTGGTCGCACCAGCAGT	0.567												
MCHR1	2847	broad.mit.edu	37	22	41077107	41077107	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:41077107C>T	uc003ayz.2	+	2	712	c.444C>T	c.(442-444)GAC>GAT	p.D148D	MCHR1_uc003aza.2_Silent_p.D37D	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	G protein-coupled receptor 24	148	Cytoplasmic (Potential).				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity				0						ACGTCCCCGACATCTTCATCA	0.562												
RANGAP1	5905	broad.mit.edu	37	22	41660826	41660826	+	Missense_Mutation	SNP	T	T	C	rs143626610	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:41660826T>C	uc003azs.2	-	4	1792	c.322A>G	c.(322-324)ATC>GTC	p.I108V	RANGAP1_uc003azt.2_Missense_Mutation_p.I108V|RANGAP1_uc003azu.2_Missense_Mutation_p.I108V|RANGAP1_uc011aoz.1_Missense_Mutation_p.I98V	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	108					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0						CCAGCTGTGATGAGTCCTTCC	0.597												
MEI1	150365	broad.mit.edu	37	22	42190432	42190432	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:42190432C>A	uc003baz.1	+	28	3510	c.3485C>A	c.(3484-3486)GCT>GAT	p.A1162D	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Missense_Mutation_p.A548D|MEI1_uc003bbc.1_Missense_Mutation_p.A530D|MEI1_uc010gym.1_Missense_Mutation_p.A495D|MEI1_uc003bbd.1_Missense_Mutation_p.A405D|MEI1_uc010gyn.1_RNA|MEI1_uc003bbe.1_RNA|MEI1_uc011apf.1_3'UTR|MEI1_uc010gyo.1_3'UTR|MEI1_uc003bbf.2_Missense_Mutation_p.A176D|MEI1_uc003bbg.2_Missense_Mutation_p.A176D	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	meiosis defective 1	1162							binding			central_nervous_system(1)|skin(1)	2						CTCTTGGATGCTGGAGAGAAT	0.498												
NAGA	4668	broad.mit.edu	37	22	42463259	42463259	+	Silent	SNP	C	C	T	rs149600926		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:42463259C>T	uc003bbx.2	-	5	497	c.360G>A	c.(358-360)GCG>GCA	p.A120A	NAGA_uc003bby.2_Silent_p.A120A|NAGA_uc003bbw.3_Silent_p.A120A	NM_000262	NP_000253	P17050	NAGAB_HUMAN	alpha-N-acetylgalactosaminidase precursor	120					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)	1						TGCCCATGTCCGCGTAGATAC	0.577												
PARVB	29780	broad.mit.edu	37	22	44495947	44495947	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:44495947C>T	uc003ben.2	+	3	269	c.217C>T	c.(217-219)CGC>TGC	p.R73C	PARVB_uc003bem.2_Missense_Mutation_p.R106C|PARVB_uc010gzn.2_Missense_Mutation_p.R21C|PARVB_uc003beo.2_Missense_Mutation_p.R36C	NM_013327	NP_037459	Q9HBI1	PARVB_HUMAN	parvin, beta isoform b	73					cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding				0		Ovarian(80;0.0246)|all_neural(38;0.0423)				GAACGAGGAGCGCACGATGAT	0.572												
KIAA1644	85352	broad.mit.edu	37	22	44681394	44681394	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:44681394C>T	uc003bet.2	-	4	646	c.513G>A	c.(511-513)CCG>CCA	p.P171P		NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN	hypothetical protein LOC85352 precursor	171	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				CTTGTGGCAGCGGGCCTGGGG	0.687												
FAM118A	55007	broad.mit.edu	37	22	45726600	45726600	+	Silent	SNP	C	C	T	rs150737794	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:45726600C>T	uc003bfz.3	+	6	1255	c.639C>T	c.(637-639)GAC>GAT	p.D213D	FAM118A_uc003bga.3_Silent_p.D213D|FAM118A_uc011aqr.1_Silent_p.D31D	NM_001104595	NP_001098065	Q9NWS6	F118A_HUMAN	hypothetical protein LOC55007	213						integral to membrane					0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TCACTCAAGACGCAGAAGTCA	0.592												
CELSR1	9620	broad.mit.edu	37	22	46859655	46859655	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:46859655A>T	uc003bhw.1	-	2	4132	c.4132T>A	c.(4132-4134)TGC>AGC	p.C1378S		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1378	Extracellular (Potential).|EGF-like 2; 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)		CGGCTGCGGCAGCGGCCGTTG	0.687												
BRD1	23774	broad.mit.edu	37	22	50217616	50217616	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:50217616A>C	uc003biv.2	-	1	837	c.350T>G	c.(349-351)CTC>CGC	p.L117R	BRD1_uc011arf.1_5'UTR|BRD1_uc011arg.1_Missense_Mutation_p.L117R|BRD1_uc011arh.1_Missense_Mutation_p.L117R|BRD1_uc003biu.3_Missense_Mutation_p.L117R	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	117					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)		GGGCTCCGGGAGGGCACTGGC	0.607												
TYMP	1890	broad.mit.edu	37	22	50966139	50966139	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:50966139A>G	uc003bmb.3	-	4	644	c.524T>C	c.(523-525)GTG>GCG	p.V175A	SCO2_uc003bma.2_5'Flank|SCO2_uc003blz.3_5'Flank|TYMP_uc003bmc.3_Missense_Mutation_p.V175A|TYMP_uc003bmd.3_Missense_Mutation_p.V175A|TYMP_uc010hbd.2_Missense_Mutation_p.V175A|TYMP_uc003bme.3_Missense_Mutation_p.V175A|TYMP_uc003bmf.3_Missense_Mutation_p.V142A|TYMP_uc011arz.1_Missense_Mutation_p.V175A	NM_001113756	NP_001107228	P19971	TYPH_HUMAN	endothelial cell growth factor 1	175					angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity	p.V175V(1)		ovary(1)	1		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)	GTCCAGCAGCACTTGCATCTG	0.438												
KLHDC7B	113730	broad.mit.edu	37	22	50988017	50988017	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:50988017C>T	uc003bmi.2	+	1	1556	c.1422C>T	c.(1420-1422)GAC>GAT	p.D474D		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	474	Kelch 4.									central_nervous_system(1)	1		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ATGCTTGGGACGAGTGCCCAT	0.682												
LRRN1	57633	broad.mit.edu	37	3	3887325	3887325	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:3887325C>T	uc003bpt.3	+	2	1761	c.1000C>T	c.(1000-1002)CGA>TGA	p.R334*	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	334	LRR 10.|Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CTTGGCTTTCCGAAGTGTCCC	0.493												
SUMF1	285362	broad.mit.edu	37	3	4418024	4418024	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:4418024A>G	uc003bpz.1	-	8	1029	c.1004T>C	c.(1003-1005)ATG>ACG	p.M335T	SUMF1_uc003bps.1_RNA|SUMF1_uc011ass.1_Missense_Mutation_p.M310T|SUMF1_uc010hby.1_Intron|SUMF1_uc011ast.1_Missense_Mutation_p.M203T	NM_182760	NP_877437	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1 isoform 1	335						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			upper_aerodigestive_tract(1)	1		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		CCTATGGCACATGTAGGATCC	0.438												
LMCD1	29995	broad.mit.edu	37	3	8590348	8590348	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:8590348T>C	uc003bqq.2	+	4	596	c.482T>C	c.(481-483)CTC>CCC	p.L161P	LMCD1_uc011atd.1_Missense_Mutation_p.L88P|LMCD1_uc011ate.1_Missense_Mutation_p.L49P|LMCD1_uc011atf.1_Missense_Mutation_p.L88P	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	161	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(96;0.124)		ATGCACCAGCTCCCCATCTAT	0.557												
SETD5	55209	broad.mit.edu	37	3	9517751	9517751	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:9517751C>T	uc003brt.2	+	23	4740	c.4305C>T	c.(4303-4305)GTC>GTT	p.V1435V	SETD5_uc003bru.2_Silent_p.V1337V|SETD5_uc003brv.2_Silent_p.V1324V|SETD5_uc010hck.2_Silent_p.V917V|SETD5_uc003brx.2_Silent_p.V1104V	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	1435										ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GGTCAGGAGTCAAGACTCAGA	0.572												
ATP2B2	491	broad.mit.edu	37	3	10444026	10444026	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:10444026G>A	uc003bvt.2	-	4	843	c.404C>T	c.(403-405)GCG>GTG	p.A135V	ATP2B2_uc003bvv.2_Missense_Mutation_p.A135V|ATP2B2_uc003bvw.2_Missense_Mutation_p.A135V|ATP2B2_uc010hdp.2_Missense_Mutation_p.A135V|ATP2B2_uc010hdo.2_5'UTR	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	135	Extracellular (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						CTGGGCCGTCGCACATCCTGA	0.572												
ZFYVE20	64145	broad.mit.edu	37	3	15116196	15116196	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:15116196C>T	uc003bzm.1	-	14	2062	c.1448G>A	c.(1447-1449)CGC>CAC	p.R483H	ZFYVE20_uc010hek.1_Missense_Mutation_p.R483H	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	483	Necessary for the interaction with RAB4A.|Potential.|Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2						CTGCAGAGTGCGCACTTCATC	0.622												
SCN5A	6331	broad.mit.edu	37	3	38595862	38595862	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:38595862T>C	uc003cio.2	-	27	4915	c.4721A>G	c.(4720-4722)GAG>GGG	p.E1574G	SCN5A_uc003cin.2_Missense_Mutation_p.E1573G|SCN5A_uc003cil.3_Missense_Mutation_p.E1574G|SCN5A_uc010hhi.2_Missense_Mutation_p.E1556G|SCN5A_uc010hhk.2_Intron|SCN5A_uc011ayr.1_Missense_Mutation_p.E1520G	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1574	Helical; Name=S2 of repeat IV; (Potential).				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)	GACAATACACTCGCCTGTGAA	0.493												
C3orf39	84892	broad.mit.edu	37	3	43121611	43121611	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:43121611C>T	uc003cmq.1	-	2	1454	c.1313G>A	c.(1312-1314)CGG>CAG	p.R438Q	C3orf39_uc003cmr.1_Missense_Mutation_p.R438Q	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN	glycosyltransferase precursor	438						extracellular region	transferase activity, transferring glycosyl groups			ovary(1)|skin(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)		CTCGGGGTTCCGGCAACAGAG	0.637												
MAP4	4134	broad.mit.edu	37	3	47958085	47958085	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:47958085A>G	uc003csb.2	-	7	1758	c.1232T>C	c.(1231-1233)GTA>GCA	p.V411A	MAP4_uc003csc.3_Missense_Mutation_p.V411A|MAP4_uc011bbf.1_Missense_Mutation_p.V388A|MAP4_uc003csf.3_Missense_Mutation_p.V428A	NM_002375	NP_002366	P27816	MAP4_HUMAN	microtubule-associated protein 4 isoform 1	411	17 X 14 AA tandem repeats.|9.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TGAGAGTAATACCAAATCCTT	0.438												
COL7A1	1294	broad.mit.edu	37	3	48629343	48629343	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:48629343G>A	uc003ctz.2	-	10	1346	c.1345C>T	c.(1345-1347)CGG>TGG	p.R449W		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	449	Nonhelical region (NC1).|Fibronectin type-III 3.				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)		GTCTCACGCCGCCATTCCAAC	0.627												
WDR6	11180	broad.mit.edu	37	3	49050093	49050093	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:49050093G>A	uc003cvj.2	+	2	1354	c.1216G>A	c.(1216-1218)GTC>ATC	p.V406I	WDR6_uc011bbx.1_Missense_Mutation_p.V277I|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.V350I|WDR6_uc011bbz.1_Missense_Mutation_p.V325I	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	376	WD 6.				cell cycle arrest|negative regulation of cell proliferation	cytoplasm				central_nervous_system(1)	1				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TCTCTATGACGTCGAGGTCAA	0.577												
WDR6	11180	broad.mit.edu	37	3	49050138	49050138	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:49050138C>A	uc003cvj.2	+	2	1399	c.1261C>A	c.(1261-1263)CAG>AAG	p.Q421K	WDR6_uc011bbx.1_Missense_Mutation_p.Q292K|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.Q365K|WDR6_uc011bbz.1_Missense_Mutation_p.Q340K	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	WD repeat domain 6 protein	391					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				central_nervous_system(1)	1				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TAAACATTTCCAGTCCTACTG	0.567												
USP19	10869	broad.mit.edu	37	3	49153200	49153200	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:49153200G>T	uc003cwd.1	-	10	1501	c.1340C>A	c.(1339-1341)CCC>CAC	p.P447H	USP19_uc003cwa.2_Missense_Mutation_p.P255H|USP19_uc003cvz.3_Missense_Mutation_p.P550H|USP19_uc011bcg.1_Missense_Mutation_p.P538H|USP19_uc003cwb.2_Missense_Mutation_p.P533H|USP19_uc003cwc.1_Missense_Mutation_p.P205H|USP19_uc011bch.1_Missense_Mutation_p.P548H|USP19_uc011bci.1_Missense_Mutation_p.P535H	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	447	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATGCTCCATGGGTGTGCGGGT	0.597												
LAMB2	3913	broad.mit.edu	37	3	49159273	49159273	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:49159273A>G	uc003cwe.2	-	30	5243	c.4944T>C	c.(4942-4944)GGT>GGC	p.G1648G	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	1648	Potential.|Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCCGCTCTGCACCTGCCATCC	0.552												
GPX1	2876	broad.mit.edu	37	3	49394982	49394982	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:49394982T>C	uc011bcl.1	-	3	531	c.451A>G	c.(451-453)ACC>GCC	p.T151A	GPX1_uc011bcm.1_3'UTR	NM_000581	NP_000572	P07203	GPX1_HUMAN	glutathione peroxidase 1 isoform 1	151					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding			large_intestine(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	GGAGACCAGGTGATGAGCTTG	0.657												
GMPPB	29925	broad.mit.edu	37	3	49759315	49759315	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:49759315A>G	uc003cxk.1	-	9	1178	c.953T>C	c.(952-954)GTA>GCA	p.V318A	AMIGO3_uc003cxj.2_5'Flank|GMPPB_uc003cxl.1_Missense_Mutation_p.V345A	NM_021971	NP_068806	Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B isoform 2	318					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTCCATGCGTACCTCCAGGAG	0.617												
TRAIP	10293	broad.mit.edu	37	3	49879890	49879890	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:49879890C>A	uc003cxs.1	-	6	605	c.499G>T	c.(499-501)GAG>TAG	p.E167*	TRAIP_uc010hla.1_Intron	NM_005879	NP_005870	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	167	Potential.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACTCACTGCTCCATGGTCTTC	0.557												
CAMKV	79012	broad.mit.edu	37	3	49898891	49898891	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:49898891A>G	uc003cxt.1	-	5	615	c.422T>C	c.(421-423)ATC>ACC	p.I141T	CAMKV_uc011bcy.1_Missense_Mutation_p.I66T|CAMKV_uc003cxv.1_Missense_Mutation_p.I141T|CAMKV_uc003cxw.1_5'UTR|CAMKV_uc003cxx.1_5'UTR|CAMKV_uc003cxu.2_Missense_Mutation_p.I141T|CAMKV_uc011bcz.1_Missense_Mutation_p.I104T|CAMKV_uc011bda.1_Intron|CAMKV_uc011bdb.1_RNA	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	141	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCTGTGCACGATCTTGAGTGA	0.592												
NPRL2	10641	broad.mit.edu	37	3	50385556	50385556	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:50385556G>A	uc003daj.1	-	9	1334	c.931C>T	c.(931-933)CGG>TGG	p.R311W	ZMYND10_uc003dag.1_5'Flank|ZMYND10_uc010hll.1_5'Flank|ZMYND10_uc003dah.1_5'Flank|ZMYND10_uc010hlm.1_5'Flank|NPRL2_uc003dai.1_Missense_Mutation_p.R191W|CYB561D2_uc003dak.2_5'Flank|CYB561D2_uc003dal.2_5'Flank|CYB561D2_uc003dam.2_5'Flank	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN	tumor suppressor candidate 4	311					negative regulation of kinase activity		protein binding|protein kinase activity			lung(1)	1						TCCTCTGACCGTTCATCAACA	0.572												
C3orf18	51161	broad.mit.edu	37	3	50603087	50603087	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:50603087C>T	uc003das.2	-	2	495	c.44G>A	c.(43-45)CGC>CAC	p.R15H	C3orf18_uc003dar.2_Missense_Mutation_p.R15H|C3orf18_uc011bdr.1_Intron|C3orf18_uc010hlo.2_Missense_Mutation_p.R15H|C3orf18_uc010hlp.2_Intron|C3orf18_uc003dat.2_Missense_Mutation_p.R15H	NM_016210	NP_057294	Q9UK00	CC018_HUMAN	hypothetical protein LOC51161	15						integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207)		GGTGGGTGGGCGGCTGCTGAA	0.627												
RAD54L2	23132	broad.mit.edu	37	3	51667644	51667644	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:51667644T>G	uc011bdt.1	+	7	1002	c.877T>G	c.(877-879)TTT>GTT	p.F293V	RAD54L2_uc003dbh.2_5'UTR|RAD54L2_uc011bdu.1_5'UTR|RAD54L2_uc003dbj.2_5'UTR	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	293	Helicase ATP-binding.					nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TCTGGAGAGGTTTAAGACCAG	0.517												
RAD54L2	23132	broad.mit.edu	37	3	51669679	51669679	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:51669679G>A	uc011bdt.1	+	9	1338	c.1213G>A	c.(1213-1215)GAG>AAG	p.E405K	RAD54L2_uc003dbh.2_5'UTR|RAD54L2_uc011bdu.1_Missense_Mutation_p.E99K|RAD54L2_uc003dbj.2_5'UTR	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	405	Helicase ATP-binding.					nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GATGGGGTACGAGATGTACAG	0.483												
TLR9	54106	broad.mit.edu	37	3	52257056	52257056	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:52257056G>A	uc003dda.1	-	2	1910	c.1276C>T	c.(1276-1278)CGC>TGC	p.R426C	TLR9_uc003ddb.2_Missense_Mutation_p.R523C	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	toll-like receptor 9 isoform A precursor	426	LRR 14.|Extracellular (Potential).				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			large_intestine(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CCGCTGATGCGGTTGTCCGAC	0.642												
NT5DC2	64943	broad.mit.edu	37	3	52568610	52568610	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:52568610C>T	uc003deo.2	-	1	484	c.60G>A	c.(58-60)ACG>ACA	p.T20T	NT5DC2_uc003den.2_5'Flank|NT5DC2_uc010hmi.2_5'Flank|NT5DC2_uc010hmj.2_5'UTR|LOC440957_uc003dep.2_5'Flank	NM_022908	NP_075059	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2 isoform 2	20							hydrolase activity|metal ion binding				0				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		TTTCTAGCAACGTCGACAGGC	0.592												
ERC2	26059	broad.mit.edu	37	3	55922525	55922525	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:55922525G>T	uc003dhr.1	-	14	2712	c.2456C>A	c.(2455-2457)ACC>AAC	p.T819N	ERC2_uc003dhq.1_RNA|ERC2_uc003dht.1_Missense_Mutation_p.T298N	NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	819	Potential.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GCGTGCTTTGGTGGCATCCAG	0.522												
PDE12	201626	broad.mit.edu	37	3	57543266	57543266	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:57543266G>A	uc003diw.3	+	1	1286	c.1160G>A	c.(1159-1161)CGA>CAA	p.R387Q	PDE12_uc003div.2_Missense_Mutation_p.R387Q	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	387							hydrolase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		ACTTTCTACCGAAAGTCTAAG	0.527												
SLMAP	7871	broad.mit.edu	37	3	57743556	57743556	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:57743556T>G	uc003dje.1	+	1	383	c.178T>G	c.(178-180)TTT>GTT	p.F60V	SLMAP_uc003djc.1_Missense_Mutation_p.F60V|SLMAP_uc003djd.1_Missense_Mutation_p.F60V|SLMAP_uc003djf.1_Missense_Mutation_p.F60V	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	60	Necessary for targeting to centrosomes (By similarity).|Cytoplasmic (Potential).|FHA.				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding				0				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		TCTCGTCTGGTTTGATCACAA	0.493												
PRICKLE2	166336	broad.mit.edu	37	3	64138947	64138947	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:64138947C>T	uc003dmf.2	-	6	1284	c.698G>A	c.(697-699)CGC>CAC	p.R233H		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	233	LIM zinc-binding 2.					cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CATGATGTAGCGCTGGCCGCC	0.507												
SHQ1	55164	broad.mit.edu	37	3	72799562	72799562	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:72799562C>A	uc003dpf.2	-	11	1714	c.1607G>T	c.(1606-1608)GGG>GTG	p.G536V	SHQ1_uc010hod.2_Missense_Mutation_p.G447V	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN	SHQ1 homolog	536					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			ovary(2)|large_intestine(1)	3		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		TATCAGAGGCCCAGACACTCC	0.517												
PDZRN3	23024	broad.mit.edu	37	3	73453461	73453461	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:73453461A>G	uc003dpl.1	-	4	1100	c.1004T>C	c.(1003-1005)GTG>GCG	p.V335A	PDZRN3_uc011bgh.1_5'UTR|PDZRN3_uc010hoe.1_Missense_Mutation_p.V33A|PDZRN3_uc011bgf.1_Missense_Mutation_p.V52A|PDZRN3_uc011bgg.1_Missense_Mutation_p.V55A	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	335	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCTTCTCAACACCTGCACCAC	0.493												
ROBO2	6092	broad.mit.edu	37	3	77651597	77651597	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:77651597A>T	uc003dpy.3	+	20	3734	c.3091A>T	c.(3091-3093)ATG>TTG	p.M1031L	ROBO2_uc003dpz.2_Missense_Mutation_p.M1035L|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.M1035L|ROBO2_uc003dqa.2_Missense_Mutation_p.M158L	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	1031	Cytoplasmic (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AACAGATCTGATGGGATTTGG	0.418												
LNP1	348801	broad.mit.edu	37	3	100170683	100170683	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:100170683T>C	uc003dtx.3	+	3	1557	c.277T>C	c.(277-279)TCA>CCA	p.S93P	LNP1_uc003dty.3_RNA|LNP1_uc011bhb.1_RNA	NM_001085451	NP_001078920	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	93											0						AGAGGATGGGTCATTCAAGGA	0.448												
ZBTB11	27107	broad.mit.edu	37	3	101370285	101370285	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:101370285G>A	uc003dve.3	-	11	3117	c.2887C>T	c.(2887-2889)CAT>TAT	p.H963Y		NM_014415	NP_055230	O95625	ZBT11_HUMAN	zinc finger protein ZNF-U69274	963					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						CTAACAGCATGTGCCACTTGA	0.433												
MORC1	27136	broad.mit.edu	37	3	108773717	108773717	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:108773717G>A	uc003dxl.2	-	14	1275	c.1188C>T	c.(1186-1188)GGC>GGT	p.G396G	MORC1_uc011bhn.1_Silent_p.G396G	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	396					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|skin(3)|breast(2)	8						TTCCAACCACGCCTGCGCCAA	0.308												
C3orf17	25871	broad.mit.edu	37	3	112724472	112724472	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:112724472T>C	uc003dzr.2	-	9	1676	c.1615A>G	c.(1615-1617)ACG>GCG	p.T539A	GTPBP8_uc011bhy.1_Intron|C3orf17_uc003dzq.2_Missense_Mutation_p.T164A|C3orf17_uc011bhz.1_Missense_Mutation_p.T164A|C3orf17_uc010hqh.2_Missense_Mutation_p.T164A|C3orf17_uc003dzt.2_Missense_Mutation_p.T442A|C3orf17_uc003dzs.2_Missense_Mutation_p.T403A|C3orf17_uc010hqg.2_Missense_Mutation_p.T364A|C3orf17_uc011bia.1_Missense_Mutation_p.T336A|C3orf17_uc003dzu.2_Missense_Mutation_p.T468A|C3orf17_uc011bib.1_Missense_Mutation_p.T428A|C3orf17_uc011bic.1_Missense_Mutation_p.T372A|C3orf17_uc011bid.1_RNA	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	hypothetical protein LOC25871	539						integral to membrane					0						TGCATCACCGTCCACGAATCA	0.353												
NAA50	80218	broad.mit.edu	37	3	113440776	113440776	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:113440776T>G	uc003ean.1	-	5	641	c.341A>C	c.(340-342)CAG>CCG	p.Q114P	NAA50_uc010hqm.1_Missense_Mutation_p.Q40P|NAA50_uc011bij.1_Missense_Mutation_p.Q40P	NM_025146	NP_079422	Q9GZZ1	NAA50_HUMAN	N-acetyltransferase 13	114	N-acetyltransferase.				N-terminal protein amino acid acetylation	cytoplasm	N-acetyltransferase activity|protein binding				0						ATTGCTGATCTGGACATGCCT	0.373												
ZBTB20	26137	broad.mit.edu	37	3	114069855	114069855	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:114069855G>A	uc003ebi.2	-	4	1250	c.1070C>T	c.(1069-1071)ACG>ATG	p.T357M	ZBTB20_uc003ebj.2_Missense_Mutation_p.T284M|ZBTB20_uc010hqp.2_Missense_Mutation_p.T284M|ZBTB20_uc003ebk.2_Missense_Mutation_p.T284M|ZBTB20_uc003ebl.2_Missense_Mutation_p.T284M|ZBTB20_uc003ebm.2_Missense_Mutation_p.T284M|ZBTB20_uc003ebn.2_Missense_Mutation_p.T284M|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGTCTTCCGTGCACTCCTC	0.592												
NR1I2	8856	broad.mit.edu	37	3	119528957	119528957	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:119528957G>A	uc003edj.2	+	3	2086	c.247G>A	c.(247-249)GCC>ACC	p.A83T	NR1I2_uc003edi.2_Missense_Mutation_p.A83T|NR1I2_uc003edk.2_Missense_Mutation_p.A122T|NR1I2_uc003edl.2_5'Flank	NM_003889	NP_003880	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	83	Nuclear receptor.|Bipartite nuclear localization signal.|NR C4-type.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	CCGGAAGGGCGCCTGCGAGAT	0.652												
CASR	846	broad.mit.edu	37	3	121976124	121976124	+	Missense_Mutation	SNP	T	T	C	rs104893696		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:121976124T>C	uc003eev.3	+	3	754	c.382T>C	c.(382-384)TTC>CTC	p.F128L	CASR_uc003eew.3_Missense_Mutation_p.F128L	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	128	Extracellular (Potential).		F -> L (in FIH; there is a shift in the dose-response curve so that the extracellular calcium concentration needed to produce half-maximal increase in total inositol phosphate in the cells is significantly lower than the one required for the wild-type receptor).		anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCTTGATGAGTTCTGCAACTG	0.483												
KALRN	8997	broad.mit.edu	37	3	124053260	124053260	+	Missense_Mutation	SNP	G	G	A	rs35057827		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:124053260G>A	uc003ehg.2	+	9	1686	c.1559G>A	c.(1558-1560)CGG>CAG	p.R520Q	KALRN_uc010hrv.1_Missense_Mutation_p.R520Q|KALRN_uc003ehf.1_Missense_Mutation_p.R520Q|KALRN_uc011bjy.1_Missense_Mutation_p.R520Q	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	520					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						CACCAGCGACGGCTGGAGAGC	0.622												
PLXNA1	5361	broad.mit.edu	37	3	126723974	126723974	+	Silent	SNP	C	C	T	rs145552902		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:126723974C>T	uc003ejg.2	+	6	1720	c.1716C>T	c.(1714-1716)GGC>GGT	p.G572G		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	595	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		TCTCAGCTGGCGTCAACTGCT	0.657												
ATP2C1	27032	broad.mit.edu	37	3	130735042	130735042	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:130735042C>A	uc011bli.1	+	28	3093	c.2873C>A	c.(2872-2874)CCC>CAC	p.P958H	ATP2C1_uc011blh.1_Missense_Mutation_p.P929H|ATP2C1_uc003enm.2_3'UTR|ATP2C1_uc003enn.2_Missense_Mutation_p.P908H|ATP2C1_uc003enp.2_3'UTR|ATP2C1_uc003enr.2_3'UTR|ATP2C1_uc003ens.2_Missense_Mutation_p.P934H|ATP2C1_uc003ent.2_Missense_Mutation_p.P924H|ASTE1_uc010htm.1_Missense_Mutation_p.G552V|ASTE1_uc003env.1_Missense_Mutation_p.G552V|ASTE1_uc011blj.1_RNA	NM_001001487	NP_001001487	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1b	Error:Variant_position_missing_in_P98194_after_alignment					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)	GAGATACATCCCCATCTGGAG	0.522									Hailey-Hailey_disease			
MRPL3	11222	broad.mit.edu	37	3	131208833	131208833	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:131208833A>T	uc003eoh.2	-	5	724	c.560T>A	c.(559-561)ATT>AAT	p.I187N	MRPL3_uc011blo.1_Missense_Mutation_p.I82N|MRPL3_uc011blp.1_Missense_Mutation_p.I214N	NM_007208	NP_009139	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	187					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome				0						ACCTGGTTTAATTGCAGCATT	0.363												
COPB2	9276	broad.mit.edu	37	3	139085492	139085492	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:139085492C>A	uc003etf.3	-	15	1932	c.1802G>T	c.(1801-1803)AGG>ATG	p.R601M	COPB2_uc011bmv.1_Missense_Mutation_p.R572M|COPB2_uc010hui.2_Missense_Mutation_p.R572M	NM_004766	NP_004757	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta	601					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						GCTAAAGTCCCTCCGCATGAC	0.438												
SPSB4	92369	broad.mit.edu	37	3	140785534	140785534	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:140785534C>T	uc003ett.2	+	2	842	c.588C>T	c.(586-588)TAC>TAT	p.Y196Y	SPSB4_uc010hum.2_Silent_p.Y196Y	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box	196	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding				0						ATGGCCAGTACCTGGGCGTGG	0.632												
TFDP2	7029	broad.mit.edu	37	3	141688962	141688962	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:141688962C>G	uc003eun.3	-	9	1064	c.685G>C	c.(685-687)GAA>CAA	p.E229Q	TFDP2_uc003euk.3_Missense_Mutation_p.E142Q|TFDP2_uc010hur.2_Missense_Mutation_p.E169Q|TFDP2_uc003eul.3_Missense_Mutation_p.E169Q|TFDP2_uc011bnf.1_Missense_Mutation_p.E132Q|TFDP2_uc011bng.1_Missense_Mutation_p.E93Q|TFDP2_uc003eum.3_Missense_Mutation_p.E169Q	NM_006286	NP_006277	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization	229	Dimerization (Potential).|DCB1.				cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)	1						TTTATCCGTTCTATCCGCCTC	0.413												
P2RY14	9934	broad.mit.edu	37	3	150931878	150931878	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:150931878A>G	uc003eyr.1	-	3	705	c.227T>C	c.(226-228)TTC>TCC	p.F76S	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY14_uc003eys.1_Missense_Mutation_p.F76S	NM_001081455	NP_001074924	Q15391	P2Y14_HUMAN	P2Y14 receptor	76	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			large_intestine(2)|ovary(1)|lung(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAGGATCTTGAAAGGAAAAGT	0.463												
MED12L	116931	broad.mit.edu	37	3	151134107	151134107	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:151134107A>G	uc003eyp.2	+	41	6238	c.6200A>G	c.(6199-6201)CAG>CGG	p.Q2067R	MED12L_uc011bnz.1_Intron	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	2067	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGATGcagcagccccagcag	0.333												
IGSF10	285313	broad.mit.edu	37	3	151155816	151155816	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:151155816G>T	uc011bod.1	-	6	6533	c.6533C>A	c.(6532-6534)CCT>CAT	p.P2178H	IGSF10_uc011bob.1_Missense_Mutation_p.P205H|IGSF10_uc011boc.1_Missense_Mutation_p.P157H	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	2178	Ig-like C2-type 8.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTCATTGGAAGGCAGCAACCA	0.433												
DHX36	170506	broad.mit.edu	37	3	154017707	154017707	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:154017707G>A	uc003ezy.3	-	12	1550	c.1469C>T	c.(1468-1470)GCG>GTG	p.A490V	DHX36_uc010hvq.2_Missense_Mutation_p.A490V|DHX36_uc003ezz.3_Missense_Mutation_p.A490V	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	490	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GACCAGTATCGCACCATCCTA	0.358												
DHX36	170506	broad.mit.edu	37	3	154032899	154032899	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:154032899A>G	uc003ezy.3	-	3	620	c.539T>C	c.(538-540)TTA>TCA	p.L180S	DHX36_uc010hvq.2_Missense_Mutation_p.L180S|DHX36_uc003ezz.3_Missense_Mutation_p.L180S	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	180						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTTTTGGTCTAAAGTTCCATC	0.284												
PLCH1	23007	broad.mit.edu	37	3	155203168	155203168	+	Missense_Mutation	SNP	A	A	T	rs141197506	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:155203168A>T	uc011bok.1	-	22	3252	c.2975T>A	c.(2974-2976)ATT>AAT	p.I992N	PLCH1_uc011boj.1_Missense_Mutation_p.I992N|PLCH1_uc011bol.1_Missense_Mutation_p.I954N	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	992					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTTCCTTCAATGTCTTTTGC	0.453												
C3orf33	285315	broad.mit.edu	37	3	155481323	155481323	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:155481323A>C	uc003fal.1	-	6	1009	c.739T>G	c.(739-741)TTT>GTT	p.F247V	C3orf33_uc003fam.1_Missense_Mutation_p.F290V	NM_173657	NP_775928	Q96NB5	Q96NB5_HUMAN	hypothetical protein LOC285315	247							hydrolase activity, acting on ester bonds|nucleic acid binding				0			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTCTACGAAAGTTTATGCGA	0.318												
VEPH1	79674	broad.mit.edu	37	3	157188202	157188202	+	Silent	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:157188202G>T	uc003fbj.1	-	3	572	c.255C>A	c.(253-255)CTC>CTA	p.L85L	VEPH1_uc003fbk.1_Silent_p.L85L|VEPH1_uc010hvu.1_Silent_p.L85L|VEPH1_uc003fbm.2_Silent_p.L85L|VEPH1_uc003fbn.2_Silent_p.L85L	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	85						plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AGGAGTCCCAGAGCCCCACAA	0.463												
GFM1	85476	broad.mit.edu	37	3	158369926	158369926	+	Missense_Mutation	SNP	C	C	T	rs150903461		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:158369926C>T	uc003fce.2	+	6	838	c.731C>T	c.(730-732)GCG>GTG	p.A244V	GFM1_uc003fcd.2_Missense_Mutation_p.A244V|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Missense_Mutation_p.A175V	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1 precursor	244					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			ovary(3)|central_nervous_system(1)	4			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GAATTAAGGGCGGCGGCCACT	0.408												
SLC2A2	6514	broad.mit.edu	37	3	170725002	170725002	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:170725002C>T	uc003fhe.1	-	5	856	c.547G>A	c.(547-549)GCT>ACT	p.A183T	SLC2A2_uc003fhf.1_Missense_Mutation_p.A10T|SLC2A2_uc011bpu.1_Missense_Mutation_p.A56T	NM_000340	NP_000331	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose	183	Cytoplasmic (Potential).			A -> S (in Ref. 2; BAF83535).	carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			CCCCTGAGAGCGGTTGGAGCA	0.463												
FNDC3B	64778	broad.mit.edu	37	3	171965347	171965347	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:171965347C>T	uc003fhy.2	+	5	461	c.289C>T	c.(289-291)CGC>TGC	p.R97C	FNDC3B_uc003fhz.3_Missense_Mutation_p.R97C|FNDC3B_uc003fia.2_Missense_Mutation_p.R28C	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	97						endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TACTGGAGTCCGCCGGGTGGT	0.458												
CCDC39	339829	broad.mit.edu	37	3	180334112	180334112	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:180334112G>A	uc010hxe.2	-	19	2741	c.2626C>T	c.(2626-2628)CGT>TGT	p.R876C	CCDC39_uc003fkn.2_RNA|TTC14_uc003fkm.2_Intron	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	876	Ser-rich.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GAGCTCTGACGACTGCCTTTT	0.383												
EIF2B5	8893	broad.mit.edu	37	3	183857942	183857942	+	Missense_Mutation	SNP	G	G	T	rs138820746		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:183857942G>T	uc003fmp.2	+	6	1204	c.840G>T	c.(838-840)GAG>GAT	p.E280D	EIF2B5_uc003fmq.2_Translation_Start_Site	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B,	280					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			ovary(5)	5	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TAGTGAATGAGGAGGTGAGAA	0.428												
MASP1	5648	broad.mit.edu	37	3	186978565	186978565	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:186978565C>T	uc003frh.1	-	4	843	c.511G>A	c.(511-513)GGC>AGC	p.G171S	MASP1_uc003fri.2_Missense_Mutation_p.G171S|MASP1_uc003frj.2_Missense_Mutation_p.G140S|MASP1_uc003frk.1_Missense_Mutation_p.G171S|MASP1_uc011bse.1_Missense_Mutation_p.G145S	NM_001879	NP_001870	P48740	MASP1_HUMAN	mannan-binding lectin serine protease 1 isoform	171	Interaction with FCN2.|Interaction with MBL2.|EGF-like; calcium-binding.|Homodimerization (By similarity).				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|breast(1)|liver(1)	4	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		AGGATGTAGCCGAAGCGGCAG	0.522												
IL1RAP	3556	broad.mit.edu	37	3	190322009	190322009	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:190322009T>G	uc003fsm.1	+	4	363	c.157T>G	c.(157-159)TTC>GTC	p.F53V	IL1RAP_uc003fsk.2_Missense_Mutation_p.F53V|IL1RAP_uc003fsl.2_Missense_Mutation_p.F53V|IL1RAP_uc010hzf.2_Intron|IL1RAP_uc010hzg.1_Missense_Mutation_p.F53V|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Missense_Mutation_p.F53V|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Missense_Mutation_p.F53V	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein isoform	53	Ig-like C2-type 1.|Extracellular (Potential).				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		CTTTGAACACTTCTTGAAATT	0.498												
ATP13A4	84239	broad.mit.edu	37	3	193158373	193158373	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:193158373A>T	uc003ftd.2	-	21	2601	c.2493T>A	c.(2491-2493)AGT>AGA	p.S831R	ATP13A4_uc003fte.1_Missense_Mutation_p.S831R|ATP13A4_uc011bsr.1_Missense_Mutation_p.S302R|ATP13A4_uc010hzi.2_RNA	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	831	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CTTCCACCAGACTGGACTTCT	0.458												
MUC4	4585	broad.mit.edu	37	3	195486030	195486030	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:195486030G>A	uc011bto.1	-	18	15027	c.14567C>T	c.(14566-14568)ACG>ATG	p.T4856M	MUC4_uc003fuz.2_Missense_Mutation_p.T582M|MUC4_uc003fva.2_Missense_Mutation_p.T464M|MUC4_uc003fvb.2_Missense_Mutation_p.T500M|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.T500M|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.T464M|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.T548M|MUC4_uc011bti.1_Missense_Mutation_p.T548M|MUC4_uc011btj.1_Missense_Mutation_p.T725M|MUC4_uc011btk.1_Missense_Mutation_p.T464M|MUC4_uc011btl.1_Missense_Mutation_p.T493M|MUC4_uc011btm.1_Missense_Mutation_p.T673M|MUC4_uc011btn.1_Missense_Mutation_p.T464M|MUC4_uc003fvo.2_Missense_Mutation_p.T748M|MUC4_uc003fvp.2_Missense_Mutation_p.T697M	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1741					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTCTCTGAGCGTGAAGTTGGC	0.552												
PAK2	5062	broad.mit.edu	37	3	196509660	196509660	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:196509660A>G	uc003fwy.3	+	2	465	c.143A>G	c.(142-144)AAG>AGG	p.K48R		NM_002577	NP_002568	Q13177	PAK2_HUMAN	p21-activated kinase 2	48					axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			ovary(1)|lung(1)	2	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		GAAGAGAAAAAGCCCAGGCAT	0.443												
MFI2	4241	broad.mit.edu	37	3	196735572	196735572	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:196735572T>C	uc003fxk.3	-	13	1819	c.1706A>G	c.(1705-1707)GAC>GGC	p.D569G		NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	569	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GAAGGCAACGTCACCCGCATT	0.637												
ZNF721	170960	broad.mit.edu	37	4	436908	436908	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:436908A>G	uc003gag.2	-	3	2039	c.1348T>C	c.(1348-1350)TGT>CGT	p.C450R	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.C482R|ZNF721_uc010ibe.2_Missense_Mutation_p.C438R	NM_133474	NP_597731	D9N162	D9N162_HUMAN	zinc finger protein 721	450						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						GCTTTCCCACATTCTTTACAT	0.368												
PIGG	54872	broad.mit.edu	37	4	501310	501310	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:501310C>T	uc003gak.3	+	4	823	c.687C>T	c.(685-687)AGC>AGT	p.S229S	PIGG_uc003gaj.3_Silent_p.S229S|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Intron|PIGG_uc003gal.3_Silent_p.S140S|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_Silent_p.S107S|PIGG_uc003gam.2_Silent_p.S140S|PIGG_uc003gan.2_Silent_p.S140S	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	229	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			central_nervous_system(2)|ovary(1)|skin(1)	4						GGCCCAACAGCCCCCTGATTG	0.537												
PCGF3	10336	broad.mit.edu	37	4	727562	727562	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:727562C>T	uc011bva.1	+	5	568	c.93C>T	c.(91-93)ACC>ACT	p.T31T	PCGF3_uc003gbc.1_RNA|PCGF3_uc003gbd.1_RNA|PCGF3_uc003gbe.2_Silent_p.T31T|PCGF3_uc010ibh.2_Silent_p.T31T|PCGF3_uc003gbg.1_5'Flank|PCGF3_uc003gbh.2_5'Flank	NM_006315	NP_006306	Q3KNV8	PCGF3_HUMAN	ring finger protein 3	31	RING-type.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding				0						CCACGGTGACCGAGTGTCTGC	0.612												
KIAA1530	57654	broad.mit.edu	37	4	1348977	1348977	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:1348977G>A	uc003gde.3	+	7	1567	c.1120G>A	c.(1120-1122)GTA>ATA	p.V374I		NM_020894	NP_065945	Q2YD98	K1530_HUMAN	hypothetical protein LOC57654	374											0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)			ATTGGAGCTCGTACTGAGAAA	0.617												
CRIPAK	285464	broad.mit.edu	37	4	1389008	1389008	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:1389008G>A	uc003gdf.2	+	1	3669	c.709G>A	c.(709-711)GGA>AGA	p.G237R		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	237	6.				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GTGCCGATGCGGAGTGCCCGC	0.677												
WHSC1	7468	broad.mit.edu	37	4	1976611	1976611	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:1976611C>A	uc003gdz.3	+	19	3570	c.3394C>A	c.(3394-3396)CCC>ACC	p.P1132T	WHSC1_uc003geb.3_Missense_Mutation_p.P1132T|WHSC1_uc003gec.3_Missense_Mutation_p.P1132T|WHSC1_uc003ged.3_Missense_Mutation_p.P1132T|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Missense_Mutation_p.P351T|WHSC1_uc011bvh.1_Missense_Mutation_p.P193T|WHSC1_uc010icf.2_Missense_Mutation_p.P480T	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	1132	SET.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AGACGCTGGCCCCAAAGGAAA	0.453			T	IGH@	MM							
POLN	353497	broad.mit.edu	37	4	2082734	2082734	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:2082734T>C	uc003ger.2	-	21	2338	c.2338A>G	c.(2338-2340)ATG>GTG	p.M780V	POLN_uc010icg.1_Missense_Mutation_p.M228V|POLN_uc010ich.1_3'UTR	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	DNA-directed DNA polymerase nu	780					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(2)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			ACATGGATCATGGCCAGCTTG	0.587								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
FAM193A	8603	broad.mit.edu	37	4	2701952	2701952	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:2701952G>A	uc010icl.2	+	17	3531	c.3180G>A	c.(3178-3180)GCG>GCA	p.A1060A	FAM193A_uc010ick.2_Silent_p.A1260A|FAM193A_uc003gfd.2_Silent_p.A1060A|FAM193A_uc011bvm.1_Silent_p.A1082A|FAM193A_uc011bvn.1_Silent_p.A1060A|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Silent_p.A914A	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	1060										ovary(3)	3						GCGAGCCAGCGAGGAGGCCCA	0.582												
NOP14	8602	broad.mit.edu	37	4	2948140	2948140	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:2948140A>G	uc003ggj.1	-	11	1706	c.1634T>C	c.(1633-1635)GTG>GCG	p.V545A	C4orf10_uc003gge.1_Intron|C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Missense_Mutation_p.V291A|NOP14_uc003ggk.3_Missense_Mutation_p.V545A|NOP14_uc003ggl.2_Missense_Mutation_p.V545A	NM_003703	NP_003694	P78316	NOP14_HUMAN	probable nucleolar complex protein 14	545					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			pancreas(1)	1						TCTGCTTACCACATCCAACCC	0.522												
EVC2	132884	broad.mit.edu	37	4	5687115	5687115	+	Silent	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:5687115G>T	uc003gij.2	-	6	852	c.798C>A	c.(796-798)ACC>ACA	p.T266T	EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_Silent_p.T186T	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	266						integral to membrane				large_intestine(3)|ovary(2)	5						AGCTCTGAAAGGTGAGTTGGG	0.532												
MAN2B2	23324	broad.mit.edu	37	4	6619137	6619137	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:6619137G>A	uc003gjf.1	+	17	2768	c.2732G>A	c.(2731-2733)CGC>CAC	p.R911H	MAN2B2_uc003gje.1_Missense_Mutation_p.R911H|MAN2B2_uc011bwf.1_Missense_Mutation_p.R860H	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	911					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						GCTGACCTCCGCCGTGTCCTG	0.597												
CCDC96	257236	broad.mit.edu	37	4	7043253	7043253	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:7043253G>A	uc003gjv.2	-	1	1476	c.1413C>T	c.(1411-1413)GCC>GCT	p.A471A	TADA2B_uc003gjw.3_5'Flank|TADA2B_uc010idi.2_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	471											0						TTCCTAGGGCGGCCTGGGCCT	0.547												
SH3TC1	54436	broad.mit.edu	37	4	8229226	8229226	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:8229226C>T	uc003gkv.3	+	12	1906	c.1805C>T	c.(1804-1806)GCT>GTT	p.A602V	SH3TC1_uc003gkw.3_Missense_Mutation_p.A526V|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	602	TPR 2.						binding			large_intestine(2)|pancreas(1)	3						CTAGTGGTGGCTGTGTACGCC	0.637												
LDB2	9079	broad.mit.edu	37	4	16590355	16590355	+	Missense_Mutation	SNP	G	G	A	rs138524887		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:16590355G>A	uc003goz.2	-	4	825	c.509C>T	c.(508-510)CCG>CTG	p.P170L	LDB2_uc003gpa.2_Missense_Mutation_p.P170L|LDB2_uc003gpb.2_Missense_Mutation_p.P170L|LDB2_uc011bxh.1_Missense_Mutation_p.P170L|LDB2_uc010iee.2_Missense_Mutation_p.P170L|LDB2_uc003goy.2_Missense_Mutation_p.P46L|LDB2_uc011bxi.1_Missense_Mutation_p.P46L	NM_001290	NP_001281	O43679	LDB2_HUMAN	LIM domain binding 2 isoform a	170							LIM domain binding|transcription cofactor activity				0						GATGCTTCTCGGGACTAACTC	0.393												
LCORL	254251	broad.mit.edu	37	4	17964593	17964593	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:17964593A>G	uc003gpq.2	-	3	311	c.300T>C	c.(298-300)AGT>AGC	p.S100S	LCORL_uc011bxk.1_Intron	NM_153686	NP_710153	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0						TAAAACTTACACTGACTGCTT	0.313												
GPR125	166647	broad.mit.edu	37	4	22422539	22422539	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:22422539A>G	uc003gqm.1	-	12	2044	c.1779T>C	c.(1777-1779)GTT>GTC	p.V593V	GPR125_uc010ieo.1_Silent_p.V467V|GPR125_uc003gqn.1_Silent_p.V367V|GPR125_uc003gqo.2_Silent_p.V593V	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	593	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)				ATGTATTTGAAACATTGCACT	0.418												
PPARGC1A	10891	broad.mit.edu	37	4	23831131	23831131	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:23831131A>G	uc003gqs.2	-	4	627	c.507T>C	c.(505-507)CAT>CAC	p.H169H	PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	169					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)				TGTGATTTGCATGGTTCTGGG	0.403												
KLF3	51274	broad.mit.edu	37	4	38696378	38696378	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:38696378C>T	uc003gth.3	+	5	1039	c.707C>T	c.(706-708)TCG>TTG	p.S236L		NM_016531	NP_057615	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	236	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)	2						AATCACCCTTCGGTCATCGTG	0.463												
TMEM156	80008	broad.mit.edu	37	4	38990475	38990475	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:38990475C>T	uc003gto.2	-	4	843	c.735G>A	c.(733-735)TGG>TGA	p.W245*	TMEM156_uc010ifj.2_Nonsense_Mutation_p.W245*	NM_024943	NP_079219	Q8N614	TM156_HUMAN	transmembrane protein 156	245	Cytoplasmic (Potential).					integral to membrane				skin(1)	1						ACTTACTCTGCCACTTTTGCA	0.313												
RBM47	54502	broad.mit.edu	37	4	40428030	40428030	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:40428030T>C	uc003gvc.2	-	7	2383	c.1673A>G	c.(1672-1674)AAC>AGC	p.N558S	RBM47_uc003gvd.2_Missense_Mutation_p.N489S|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.N520S	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	558	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(3)	3						GGCTGCCGCGTTCTTCTGTAG	0.597												
LIMCH1	22998	broad.mit.edu	37	4	41694373	41694373	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:41694373C>T	uc003gvu.3	+	26	3252	c.3198C>T	c.(3196-3198)AAC>AAT	p.N1066N	LIMCH1_uc003gvv.3_Silent_p.N1040N|LIMCH1_uc003gvw.3_Silent_p.N1039N|LIMCH1_uc003gvx.3_Silent_p.N1052N|LIMCH1_uc003gwe.3_Silent_p.N963N|LIMCH1_uc003gvy.3_Silent_p.N868N|LIMCH1_uc003gwa.3_Silent_p.N880N|LIMCH1_uc003gvz.3_Silent_p.N1450N|LIMCH1_uc011byu.1_Silent_p.N899N|LIMCH1_uc003gwc.3_Silent_p.N885N|LIMCH1_uc003gwd.3_Silent_p.N873N|LIMCH1_uc011byv.1_Silent_p.N816N|LIMCH1_uc011byw.1_Silent_p.N339N|LIMCH1_uc010ifv.2_5'Flank	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1 isoform a	1066	LIM zinc-binding.				actomyosin structure organization		actin binding|zinc ion binding	p.N1066H(1)		ovary(2)|pancreas(1)|skin(1)	4						GTCTCCTGAACTGTAATGATT	0.438												
SRP72	6731	broad.mit.edu	37	4	57340534	57340534	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:57340534T>C	uc003hbv.2	+	5	627	c.587T>C	c.(586-588)ATG>ACG	p.M196T	SRP72_uc010ihe.2_Missense_Mutation_p.M196T|SRP72_uc003hbw.1_Missense_Mutation_p.M1T	NM_006947	NP_008878	O76094	SRP72_HUMAN	signal recognition particle 72kDa	196					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			ovary(1)	1	Glioma(25;0.08)|all_neural(26;0.101)					AACCAGGCCATGAAAATCCTA	0.433												
RUFY3	22902	broad.mit.edu	37	4	71588444	71588444	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:71588444C>T	uc003hfq.2	+	1	749	c.154C>T	c.(154-156)CCT>TCT	p.P52S	RUFY3_uc003hfp.3_Intron|RUFY3_uc011cax.1_Missense_Mutation_p.P52S|RUFY3_uc003hfr.2_Missense_Mutation_p.P52S	NM_014961	NP_055776	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3 isoform 2	52					negative regulation of axonogenesis	filopodium|growth cone					0		all_hematologic(202;0.248)	Lung(101;0.235)			CTCACTTACACCTGACCCAGA	0.537												
ANKRD17	26057	broad.mit.edu	37	4	73943097	73943097	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:73943097C>T	uc003hgp.2	-	32	7679	c.7562G>A	c.(7561-7563)GGC>GAC	p.G2521D	ANKRD17_uc003hgo.2_Missense_Mutation_p.G2408D|ANKRD17_uc003hgq.2_Missense_Mutation_p.G2270D|ANKRD17_uc003hgr.2_Missense_Mutation_p.G2520D	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	2521					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTCCATGTAGCCTGCAGGAAC	0.393												
MTHFD2L	441024	broad.mit.edu	37	4	75065537	75065537	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:75065537A>G	uc003hhn.1	+	7	822	c.304A>G	c.(304-306)AAT>GAT	p.N102D	MTHFD2L_uc011cbj.1_Missense_Mutation_p.N102D|MTHFD2L_uc011cbk.1_Missense_Mutation_p.N160D	NM_001144978	NP_001138450	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase 2-like	102					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			ovary(1)|central_nervous_system(1)	2			all cancers(17;0.0101)|Lung(101;0.196)			AACAATATGCAATGGAATTGC	0.323												
KLHL8	57563	broad.mit.edu	37	4	88116474	88116474	+	Splice_Site	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:88116474A>G	uc011cdb.1	-	2	601	c.216_splice	c.e2+1	p.K72_splice	KLHL8_uc003hql.1_Splice_Site_p.K72_splice|KLHL8_uc003hqm.1_Splice_Site_p.K72_splice|KLHL8_uc003hqn.1_Splice_Site_p.K72_splice|KLHL8_uc010ikj.1_Splice_Site	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	kelch-like 8												0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		AGGCAATCTCACCTTGAGTGT	0.353												
SPARCL1	8404	broad.mit.edu	37	4	88403698	88403698	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:88403698T>C	uc010ikm.2	-	9	2118	c.1546A>G	c.(1546-1548)ACG>GCG	p.T516A	SPARCL1_uc011cdc.1_Missense_Mutation_p.T391A|SPARCL1_uc003hqs.3_Missense_Mutation_p.T516A|SPARCL1_uc011cdd.1_Missense_Mutation_p.T391A	NM_001128310	NP_001121782	Q14515	SPRL1_HUMAN	SPARC-like 1 precursor	516					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TCAAAGTCCGTACAAGTAGGA	0.413												
SPARCL1	8404	broad.mit.edu	37	4	88411935	88411935	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:88411935G>T	uc010ikm.2	-	7	1959	c.1387C>A	c.(1387-1389)CCT>ACT	p.P463T	SPARCL1_uc011cdc.1_Missense_Mutation_p.P338T|SPARCL1_uc003hqs.3_Missense_Mutation_p.P463T|SPARCL1_uc011cdd.1_Missense_Mutation_p.P338T	NM_001128310	NP_001121782	Q14515	SPRL1_HUMAN	SPARC-like 1 precursor	463	Kazal-like.				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TTTGTTGGAGGACAAGTCACT	0.408												
FAM190A	401145	broad.mit.edu	37	4	91230124	91230124	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:91230124G>T	uc003hsv.3	+	2	1029	c.689G>T	c.(688-690)TGT>TTT	p.C230F	FAM190A_uc003hsu.3_Missense_Mutation_p.C230F|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.C230F	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	KIAA1680 protein isoform 1	230										large_intestine(1)|ovary(1)	2						TCGCCATCCTGTTCTGTGGAT	0.433												
C4orf37	285555	broad.mit.edu	37	4	98762072	98762072	+	Silent	SNP	C	C	T	rs149484886	by1000genomes	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:98762072C>T	uc003htt.1	-	9	1146	c.1056G>A	c.(1054-1056)GCG>GCA	p.A352A		NM_174952	NP_777612	Q8N412	CD037_HUMAN	hypothetical protein LOC285555	352											0				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		AGCTGCCTGGCGCTGGAATAA	0.348												
ADH4	127	broad.mit.edu	37	4	100065369	100065369	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:100065369C>A	uc003hun.2	-	1	81	c.5G>T	c.(4-6)GGC>GTC	p.G2V	uc003hum.1_Intron|ADH4_uc011ced.1_5'UTR	NM_000670	NP_000661	P08319	ADH4_HUMAN	class II alcohol dehydrogenase, pi subunit	2					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			skin(2)	2				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	GCCCTTGGTGCCCATTTTTCT	0.418												
PPP3CA	5530	broad.mit.edu	37	4	101947156	101947156	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:101947156G>A	uc011cen.1	-	14	2107	c.1432C>T	c.(1432-1434)CGA>TGA	p.R478*	PPP3CA_uc003hvu.2_Nonsense_Mutation_p.R468*|PPP3CA_uc010ilj.2_Nonsense_Mutation_p.R426*|PPP3CA_uc003hvt.2_Nonsense_Mutation_p.R455*|PPP3CA_uc003hvs.2_Nonsense_Mutation_p.R411*|PPP3CA_uc010ilk.2_Nonsense_Mutation_p.R246*	NM_000944	NP_000935	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha	478	Inhibitory domain.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TCATTAATTCGGTCTAAGCCC	0.453												
PPA2	27068	broad.mit.edu	37	4	106367600	106367600	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:106367600G>A	uc003hxl.2	-	5	401	c.381C>T	c.(379-381)CGC>CGT	p.R127R	PPA2_uc003hxm.2_Silent_p.R109R|PPA2_uc003hxn.2_Silent_p.R127R|PPA2_uc003hxo.2_Intron|PPA2_uc003hxp.2_Intron|PPA2_uc003hxq.2_Silent_p.R34R|PPA2_uc003hxr.2_Silent_p.R34R|PPA2_uc011cfa.1_Silent_p.R34R	NM_176869	NP_789845	Q9H2U2	IPYR2_HUMAN	inorganic pyrophosphatase 2 isoform 1 precursor	127					diphosphate metabolic process|tRNA aminoacylation for protein translation	mitochondrial matrix	inorganic diphosphatase activity|magnesium ion binding			pancreas(1)	1		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		TCGCCACATAGCGTAGCTTTC	0.388												
TBCK	93627	broad.mit.edu	37	4	106967771	106967771	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:106967771T>C	uc010ilv.2	-	26	3003	c.2638A>G	c.(2638-2640)ATA>GTA	p.I880V	TBCK_uc003hyb.2_Missense_Mutation_p.I623V|TBCK_uc003hye.2_Missense_Mutation_p.I841V|TBCK_uc003hyc.2_Missense_Mutation_p.I817V|TBCK_uc003hyd.2_Missense_Mutation_p.I708V|TBCK_uc003hyf.2_Missense_Mutation_p.I880V	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN	TBC domain-containing protein kinase-like	880	Rhodanese.					intracellular	Rab GTPase activator activity			large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5						GTTGGCTTTATTTTATTAATG	0.403												
PITX2	5308	broad.mit.edu	37	4	111554122	111554122	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:111554122C>T	uc003iad.2	-	2	615	c.33G>A	c.(31-33)GCG>GCA	p.A11A	PITX2_uc003iae.2_Silent_p.A11A|PITX2_uc010iml.2_Translation_Start_Site|PITX2_uc003iaf.2_Silent_p.A11A	NM_153426	NP_700475	Q99697	PITX2_HUMAN	paired-like homeodomain transcription factor 2	11					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		ATTGCACACACGCCGACACCA	0.632												
EXOSC9	5393	broad.mit.edu	37	4	122728764	122728764	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:122728764T>G	uc003iea.2	+	6	700	c.592T>G	c.(592-594)TTT>GTT	p.F198V	EXOSC9_uc003idz.2_Missense_Mutation_p.F198V|EXOSC9_uc003ieb.2_Missense_Mutation_p.F182V|EXOSC9_uc010inp.1_RNA	NM_005033	NP_005024	Q06265	EXOS9_HUMAN	exosome component 9 isoform 2	198	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding				0						CAGTTTTGCCTTTTTCCAGCA	0.358												
BBS7	55212	broad.mit.edu	37	4	122782657	122782657	+	Splice_Site	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:122782657A>G	uc003ied.2	-	4	515	c.341_splice	c.e4+1	p.M114_splice	BBS7_uc003iee.1_Splice_Site_p.M114_splice|BBS7_uc010inq.1_Missense_Mutation_p.Y71H	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7 protein isoform a						cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			ovary(1)	1						CAAAAGACATACATAGCTTTA	0.313									Bardet-Biedl_syndrome			
KIAA1109	84162	broad.mit.edu	37	4	123122208	123122208	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:123122208G>A	uc003ieh.2	+	13	1470	c.1425G>A	c.(1423-1425)CAG>CAA	p.Q475Q	KIAA1109_uc003iei.1_Silent_p.Q229Q|KIAA1109_uc010ins.1_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	475					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						ACATGCCGCAGACATGGCAGT	0.368												
FAT4	79633	broad.mit.edu	37	4	126242390	126242390	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:126242390T>C	uc003ifj.3	+	1	4824	c.4824T>C	c.(4822-4824)CCT>CCC	p.P1608P		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1608	Cadherin 15.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ACCTTGGGCCTGAAAGGAGGA	0.433												
SLC25A31	83447	broad.mit.edu	37	4	128694557	128694557	+	Missense_Mutation	SNP	G	G	T	rs139552475	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:128694557G>T	uc003ifl.2	+	6	922	c.776G>T	c.(775-777)CGG>CTG	p.R259L		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier;	259	Solcar 3.				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity				0						GAGGCTAAACGGCAATATAAA	0.373												
C4orf33	132321	broad.mit.edu	37	4	130023786	130023786	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:130023786C>T	uc003igu.3	+	2	385	c.21C>T	c.(19-21)CAC>CAT	p.H7H	C4orf33_uc010ioc.1_Silent_p.H7H|C4orf33_uc010iod.2_Silent_p.H7H	NM_173487	NP_775758	Q8N1A6	CD033_HUMAN	hypothetical protein LOC132321	7										upper_aerodigestive_tract(1)	1						AAATTGAACACACTTGGGATG	0.353												
SLC7A11	23657	broad.mit.edu	37	4	139140496	139140496	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:139140496C>T	uc011chb.1	-	5	950	c.670G>A	c.(670-672)GCC>ACC	p.A224T		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	solute carrier family 7, (cationic amino acid	224	Extracellular (Potential).				blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			skin(1)	1	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	CCTGAAAAGGCGTCTTTAAAG	0.388												
TBC1D9	23158	broad.mit.edu	37	4	141598177	141598177	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:141598177G>A	uc010ioj.2	-	6	1202	c.930C>T	c.(928-930)CAC>CAT	p.H310H		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	310	GRAM 2.					intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGCAGTCTGTGTGGCCATCTA	0.428												
NR3C2	4306	broad.mit.edu	37	4	149356545	149356545	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:149356545G>T	uc003ilj.3	-	2	1802	c.1468C>A	c.(1468-1470)CCA>ACA	p.P490T	NR3C2_uc003ilk.3_Missense_Mutation_p.P490T|NR3C2_uc010iph.2_RNA	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	490	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)	ATACCCACTGGGAATCCGCTG	0.458												
NR3C2	4306	broad.mit.edu	37	4	149357244	149357244	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:149357244C>T	uc003ilj.3	-	2	1103	c.769G>A	c.(769-771)GTG>ATG	p.V257M	NR3C2_uc003ilk.3_Missense_Mutation_p.V257M|NR3C2_uc010iph.2_RNA	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	257	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)	GGAGAGCCCACATTGCTAGCA	0.512												
FHDC1	85462	broad.mit.edu	37	4	153895835	153895835	+	Silent	SNP	C	C	T	rs142902459	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:153895835C>T	uc003inf.2	+	11	1467	c.1392C>T	c.(1390-1392)CAC>CAT	p.H464H		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	464	FH2.				actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)					AGGACAACCACGACCGGGAGG	0.597												
KIAA0922	23240	broad.mit.edu	37	4	154507424	154507424	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:154507424C>T	uc003inm.3	+	14	1424	c.1372C>T	c.(1372-1374)CTT>TTT	p.L458F	KIAA0922_uc010ipp.2_Missense_Mutation_p.L459F|KIAA0922_uc010ipq.2_Missense_Mutation_p.L311F|KIAA0922_uc010ips.1_Missense_Mutation_p.L70F	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	458	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)				TTCTTTGAAACTTGCTGTTAA	0.333												
GUCY1A3	2982	broad.mit.edu	37	4	156651343	156651343	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:156651343G>A	uc003iov.2	+	11	2569	c.2033G>A	c.(2032-2034)GGC>GAC	p.G678D	GUCY1A3_uc003iow.2_Missense_Mutation_p.G678D|GUCY1A3_uc010iqd.2_Missense_Mutation_p.G677D|GUCY1A3_uc003iox.2_Missense_Mutation_p.G678D|GUCY1A3_uc003ioz.2_Missense_Mutation_p.G443D|GUCY1A3_uc003ioy.2_Missense_Mutation_p.G678D|GUCY1A3_uc010iqe.2_Missense_Mutation_p.G443D|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.G678D	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	678				GNANFLGKASGID -> ASQFFRQSIRNRLATYIPIYKSLG FDSLKMCRASESTLGIVDG (in Ref. 1; CAA47145).	blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GTGGAAGATGGCAATGCCAAT	0.393												
GUCY1B3	2983	broad.mit.edu	37	4	156721176	156721176	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:156721176G>A	uc003ipc.2	+	9	1292	c.1125G>A	c.(1123-1125)AGG>AGA	p.R375R	GUCY1B3_uc011cio.1_Silent_p.R397R|GUCY1B3_uc011cip.1_Silent_p.R355R|GUCY1B3_uc003ipd.2_Silent_p.R303R|GUCY1B3_uc010iqf.2_Silent_p.R375R|GUCY1B3_uc010iqg.2_Silent_p.R303R|GUCY1B3_uc011ciq.1_Silent_p.R303R	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	375					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		TCACTGACAGGCTACAGCTCA	0.433												
SPOCK3	50859	broad.mit.edu	37	4	167675864	167675864	+	Silent	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:167675864G>T	uc003iri.1	-	9	876	c.735C>A	c.(733-735)ATC>ATA	p.I245I	SPOCK3_uc011cjp.1_Silent_p.I202I|SPOCK3_uc011cjq.1_Silent_p.I254I|SPOCK3_uc011cjr.1_Silent_p.I125I|SPOCK3_uc003irj.1_Silent_p.I242I|SPOCK3_uc011cjs.1_Silent_p.I194I|SPOCK3_uc011cjt.1_Silent_p.I153I|SPOCK3_uc011cju.1_Silent_p.I138I|SPOCK3_uc011cjv.1_Silent_p.I147I|SPOCK3_uc003irk.3_Silent_p.I242I	NM_016950	NP_058646	Q9BQ16	TICN3_HUMAN	testican 3 isoform 2	245					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		AAATTGGCAAGATGCTGGTAT	0.383												
FBXO8	26269	broad.mit.edu	37	4	175160171	175160171	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:175160171A>G	uc003itp.2	-	5	1596	c.746T>C	c.(745-747)TTA>TCA	p.L249S	FBXO8_uc003itq.2_Missense_Mutation_p.L208S	NM_012180	NP_036312	Q9NRD0	FBX8_HUMAN	F-box only protein 8	249	SEC7.				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity			breast(2)	2		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		TTCTCGCATTAAATCAGGGTT	0.378												
STOX2	56977	broad.mit.edu	37	4	184932048	184932048	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:184932048C>T	uc003ivz.1	+	3	3492	c.2057C>T	c.(2056-2058)GCC>GTC	p.A686V	STOX2_uc003iwa.1_Missense_Mutation_p.A375V	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	storkhead box 2	686					embryo development|maternal placenta development						0		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CACCATGGTGCCGAGCCCAGC	0.567												
TLR3	7098	broad.mit.edu	37	4	186997812	186997812	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:186997812C>T	uc003iyq.2	+	2	140	c.39C>T	c.(37-39)GGC>GGT	p.G13G		NM_003265	NP_003256	O15455	TLR3_HUMAN	toll-like receptor 3 precursor	13					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			ovary(2)|prostate(1)|lung(1)|breast(1)	5		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TTTGGGGGGGCCTTTTGCCCT	0.463												
KLKB1	3818	broad.mit.edu	37	4	187158011	187158011	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:187158011A>C	uc003iyy.2	+	5	476	c.405A>C	c.(403-405)GAA>GAC	p.E135D	KLKB1_uc011clc.1_5'UTR|KLKB1_uc011cld.1_Missense_Mutation_p.E97D	NM_000892	NP_000883	P03952	KLKB1_HUMAN	plasma kallikrein B1 precursor	135	Apple 2.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			ovary(1)	1		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GCAGTGTTGAAGAATGCCAAA	0.398												
SDHA	6389	broad.mit.edu	37	5	228384	228384	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:228384G>A	uc003jao.3	+	6	821	c.706G>A	c.(706-708)GCA>ACA	p.A236T	SDHA_uc003jan.2_Missense_Mutation_p.A236T|SDHA_uc011clv.1_Missense_Mutation_p.A236T|SDHA_uc011clw.1_Missense_Mutation_p.A188T|SDHA_uc003jap.3_Missense_Mutation_p.A236T|SDHA_uc003jaq.3_Missense_Mutation_p.A11T|SDHA_uc003jar.3_5'Flank	NM_004168	NP_004159	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A,	236					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TGGTGTCATCGCACTGTGCAT	0.428									Familial_Paragangliomas			
SLC6A18	348932	broad.mit.edu	37	5	1235625	1235625	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:1235625G>A	uc003jby.1	+	4	592	c.469G>A	c.(469-471)GCC>ACC	p.A157T		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	solute carrier family 6, member 18	157	Extracellular (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGGCAGCAGCGCCGTGAGCTA	0.607												
CLPTM1L	81037	broad.mit.edu	37	5	1318500	1318500	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:1318500G>A	uc003jch.2	-	17	1647	c.1601C>T	c.(1600-1602)GCG>GTG	p.A534V	CLPTM1L_uc003jcg.2_Missense_Mutation_p.A365V	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	CLPTM1-like	534	Cytoplasmic (Potential).				apoptosis	integral to membrane		p.A534A(1)		breast(1)|central_nervous_system(1)	2	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		CGTGTGGGGCGCCCGCGTGGC	0.527												
DNAH5	1767	broad.mit.edu	37	5	13901461	13901461	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:13901461A>G	uc003jfd.2	-	14	1994	c.1952T>C	c.(1951-1953)CTA>CCA	p.L651P		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	651	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TGCCGTGCTTAGCACAGCTGG	0.557									Kartagener_syndrome			
MYO10	4651	broad.mit.edu	37	5	16670981	16670981	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:16670981G>A	uc003jft.3	-	39	6005	c.5537C>T	c.(5536-5538)GCT>GTT	p.A1846V	MYO10_uc011cnb.1_Missense_Mutation_p.A475V|MYO10_uc011cnc.1_Missense_Mutation_p.A725V|MYO10_uc011cnd.1_Missense_Mutation_p.A1203V|MYO10_uc011cne.1_Missense_Mutation_p.A1203V|MYO10_uc010itx.2_Missense_Mutation_p.A1468V	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1846	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						TGGGATGGCAGCGTGCAGAGT	0.562												
CDH10	1008	broad.mit.edu	37	5	24509701	24509701	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:24509701G>A	uc003jgr.1	-	7	1562	c.1230C>T	c.(1228-1230)GAC>GAT	p.D410D	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	410	Cadherin 4.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		TAGAATCTGGGTCCCTTGCCA	0.308										HNSCC(23;0.051)		
NIPBL	25836	broad.mit.edu	37	5	36985317	36985317	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:36985317T>A	uc003jkl.3	+	10	2534	c.2035T>A	c.(2035-2037)TCT>ACT	p.S679T	NIPBL_uc003jkk.3_Missense_Mutation_p.S679T|NIPBL_uc003jkm.1_Missense_Mutation_p.S558T	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	679					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAATAGACTGTCTGACACAAA	0.398												
FYB	2533	broad.mit.edu	37	5	39203057	39203057	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:39203057C>T	uc003jls.2	-	1	73	c.6G>A	c.(4-6)GCG>GCA	p.A2A	FYB_uc003jlt.2_Silent_p.A2A|FYB_uc003jlu.2_Silent_p.A2A|FYB_uc011cpl.1_Silent_p.A12A	NM_199335	NP_955367	O15117	FYB_HUMAN	FYN binding protein (FYB-120/130) isoform 2	2					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			ovary(2)	2	all_lung(31;0.000343)		Epithelial(62;0.235)			TGTTATATTTCGCCATGAGGG	0.433												
C9	735	broad.mit.edu	37	5	39311417	39311417	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:39311417G>A	uc003jlv.3	-	7	1022	c.933C>T	c.(931-933)CGC>CGT	p.R311R		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	311	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GCACAACATCGCGATTTCTCA	0.368												
C6	729	broad.mit.edu	37	5	41149541	41149541	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:41149541C>T	uc003jmk.2	-	17	2635	c.2425G>A	c.(2425-2427)GAT>AAT	p.D809N	C6_uc003jml.1_Missense_Mutation_p.D809N	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	809	C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GTAAAGTAATCGTTGGAGTCT	0.423												
ITGA1	3672	broad.mit.edu	37	5	52227966	52227966	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:52227966G>T	uc003jou.2	+	22	2913	c.2861G>T	c.(2860-2862)AGC>ATC	p.S954I	ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Missense_Mutation_p.S485I	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	954	Extracellular (Potential).				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CAGTTTTACAGGTAGGAGAAA	0.259												
CCNO	10309	broad.mit.edu	37	5	54527333	54527333	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:54527333T>C	uc003jpw.2	-	3	1080	c.923A>G	c.(922-924)CAC>CGC	p.H308R	CCNO_uc003jpv.2_RNA	NM_021147	NP_066970	P22674	CCNO_HUMAN	cyclin domain containing	308					cell cycle|cell division|depyrimidination|regulation of cyclin-dependent protein kinase activity	nucleoplasm	protein kinase binding|uracil DNA N-glycosylase activity				0		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)			CGCCTCCGGGTGGTCTCCCAG	0.637												
OCLN	4950	broad.mit.edu	37	5	68805354	68805354	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:68805354C>T	uc003jwu.2	+	3	873	c.437C>T	c.(436-438)GCC>GTC	p.A146V	OCLN_uc003jwv.3_Missense_Mutation_p.A146V	NM_002538	NP_002529			occludin												0		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GCCATGGCTGCCTTTTGTTTC	0.363												
MSH3	4437	broad.mit.edu	37	5	79968069	79968069	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:79968069G>A	uc003kgz.2	+	5	1052	c.799G>A	c.(799-801)GCC>ACC	p.A267T		NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3	267	Interaction with EXO1.				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			lung(2)|ovary(1)|breast(1)	4		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ttaGATTGCAGCCCGAGAGCT	0.274								MMR				
CKMT2	1160	broad.mit.edu	37	5	80548680	80548680	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:80548680G>T	uc003khc.3	+	4	561	c.319G>T	c.(319-321)GGC>TGC	p.G107C	RNU5E_uc011cto.1_Intron|CKMT2_uc010jaq.2_Missense_Mutation_p.G107C|CKMT2_uc003khd.3_Missense_Mutation_p.G107C|uc003khe.1_Intron|uc003khf.1_Intron|uc003khg.1_Intron	NM_001825	NP_001816	P17540	KCRS_HUMAN	sarcomeric mitochondrial creatine kinase	107	Phosphagen kinase N-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity				0		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	AAAGACTGTGGGCATGGTGGC	0.557												
GPR98	84059	broad.mit.edu	37	5	89989724	89989724	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:89989724G>A	uc003kju.2	+	33	7247	c.7151G>A	c.(7150-7152)CGG>CAG	p.R2384Q	GPR98_uc003kjt.2_Missense_Mutation_p.R90Q|GPR98_uc003kjv.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2384	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CACTTTGGTCGGCTGTTGTTG	0.428												
ANKRD32	84250	broad.mit.edu	37	5	94030643	94030643	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:94030643A>G	uc003kkr.3	+	21	2883	c.2803A>G	c.(2803-2805)ACA>GCA	p.T935A	ANKRD32_uc003kks.2_Missense_Mutation_p.T299A	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	935										ovary(2)	2		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		AATAGAAGATACAGTGGAGAA	0.358												
TTC37	9652	broad.mit.edu	37	5	94872520	94872520	+	Splice_Site	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:94872520C>T	uc003klb.2	-	10	1021	c.751_splice	c.e10+1	p.G251_splice	TTC37_uc010jbf.1_Splice_Site_p.G203_splice	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37								binding			ovary(3)|pancreas(1)	4						GAAGAAATTACCTGATTCAAT	0.343												
ERAP2	64167	broad.mit.edu	37	5	96224907	96224907	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:96224907C>A	uc003kmq.2	+	5	1578	c.868C>A	c.(868-870)CCA>ACA	p.P290T	uc003kmo.1_Intron|ERAP2_uc003kmt.2_Missense_Mutation_p.P290T|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Missense_Mutation_p.P239T|ERAP2_uc003kmu.2_RNA	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	290	Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding				0		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CTATGCATCCCCAGACAAACG	0.408												
SLCO4C1	353189	broad.mit.edu	37	5	101583012	101583012	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:101583012A>G	uc003knm.2	-	10	2042	c.1755T>C	c.(1753-1755)TTT>TTC	p.F585F		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	585	Helical; Name=10; (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TAATTACAATAAAGAAAATGC	0.363												
MAN2A1	4124	broad.mit.edu	37	5	109103321	109103321	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:109103321T>C	uc003kou.1	+	6	1884	c.921T>C	c.(919-921)TCT>TCC	p.S307S		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	307	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CTGGACTTTCTCACATGCTTA	0.428												
MCC	4163	broad.mit.edu	37	5	112399756	112399756	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:112399756C>T	uc003kqj.3	-	12	2098	c.1568G>A	c.(1567-1569)AGC>AAC	p.S523N	MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.S713N|MCC_uc011cwb.1_Missense_Mutation_p.S523N	NM_002387	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 2	523					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			ovary(1)	1		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TCCCCCACAGCTGCCGTCCAG	0.612												
SEMA6A	57556	broad.mit.edu	37	5	115803293	115803293	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:115803293T>C	uc010jck.2	-	18	2589	c.1880A>G	c.(1879-1881)CAC>CGC	p.H627R	SEMA6A_uc003krx.3_Missense_Mutation_p.H644R|SEMA6A_uc003krv.3_Missense_Mutation_p.H54R|SEMA6A_uc003krw.3_Intron|SEMA6A_uc010jcj.2_Missense_Mutation_p.H171R	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	627	Extracellular (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CTTGTCTTGGTGATTATGGGA	0.532												
TCF7	6932	broad.mit.edu	37	5	133477913	133477913	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:133477913C>G	uc003kyt.2	+	6	869	c.673C>G	c.(673-675)CCT>GCT	p.P225A	TCF7_uc003kyu.1_Missense_Mutation_p.P110A|TCF7_uc003kyv.2_Missense_Mutation_p.P110A|TCF7_uc003kyw.2_Missense_Mutation_p.P110A|TCF7_uc003kyx.2_Missense_Mutation_p.P23A|TCF7_uc003kyy.2_Missense_Mutation_p.P110A|TCF7_uc003kyz.2_Missense_Mutation_p.P110A|TCF7_uc003kza.2_Missense_Mutation_p.P110A|TCF7_uc003kzb.2_Missense_Mutation_p.P39A|TCF7_uc010jdu.2_5'Flank	NM_003202	NP_003193	P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific,	225					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding				0		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCTGGTGTACCTGGTCACCC	0.567												
TRPC7	57113	broad.mit.edu	37	5	135692494	135692494	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:135692494G>A	uc003lbn.1	-	1	582	c.579C>T	c.(577-579)CAC>CAT	p.H193H	TRPC7_uc010jef.1_Silent_p.H185H|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Silent_p.H185H|TRPC7_uc010jei.1_Silent_p.H185H|TRPC7_uc010jej.1_Translation_Start_Site	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	194	Cytoplasmic (Potential).				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGAAGTAGTCGTGGGGCCGCT	0.607												
KLHL3	26249	broad.mit.edu	37	5	137056165	137056165	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:137056165A>G	uc010jek.2	-	2	567	c.123T>C	c.(121-123)AAT>AAC	p.N41N	MYOT_uc011cye.1_Intron|KLHL3_uc010jem.1_Intron	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	kelch-like 3	41						cytoplasm|cytoskeleton	actin binding|structural molecule activity				0		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		TCCGCAGTTCATTCATAACCT	0.488												
KIF20A	10112	broad.mit.edu	37	5	137515455	137515455	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:137515455C>T	uc003lcj.2	+	2	582	c.86C>T	c.(85-87)GCA>GTA	p.A29V	BRD8_uc003lcc.1_5'Flank|BRD8_uc003lcf.1_5'Flank|BRD8_uc003lcg.2_5'Flank|BRD8_uc003lci.2_5'Flank|BRD8_uc003lch.2_5'Flank|BRD8_uc011cym.1_5'Flank|BRD8_uc010jer.1_5'Flank|BRD8_uc011cyn.1_5'Flank|BRD8_uc010jes.1_5'Flank|KIF20A_uc011cyo.1_Missense_Mutation_p.A29V	NM_005733	NP_005724	O95235	KI20A_HUMAN	kinesin family member 20A	29					cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCCACAGCTGCAGATTTGGGG	0.567												
REEP2	51308	broad.mit.edu	37	5	137781024	137781024	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:137781024A>G	uc003lcz.2	+	6	641	c.519A>G	c.(517-519)CGA>CGG	p.R173R	REEP2_uc003lda.2_Silent_p.R175R|REEP2_uc011cyt.1_Silent_p.R134R	NM_016606	NP_057690	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	173						integral to membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCGCCTCCGACCCAGCCCTG	0.672												
SLC4A9	83697	broad.mit.edu	37	5	139740369	139740369	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:139740369T>C	uc003lfm.2	+	2	310	c.275T>C	c.(274-276)ATA>ACA	p.I92T	SLC4A9_uc003lfj.2_Intron|SLC4A9_uc011czg.1_Intron|SLC4A9_uc003lfl.2_Intron|SLC4A9_uc003lfk.2_Intron	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate	92	Cytoplasmic (Potential).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCCCTCAATAACACTGTCT	0.597												
PCDHA2	56146	broad.mit.edu	37	5	140176295	140176295	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140176295G>A	uc003lhd.2	+	1	1852	c.1746G>A	c.(1744-1746)CCG>CCA	p.P582P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.P582P|PCDHA2_uc011czy.1_Silent_p.P582P	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	582	Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGGTGCCGTGGTCGGTGG	0.657												
PCDHA3	56145	broad.mit.edu	37	5	140182244	140182244	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140182244G>A	uc003lhf.2	+	1	1462	c.1462G>A	c.(1462-1464)GCC>ACC	p.A488T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.A488T	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	488	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGAGAACGCCCTGGTGTC	0.662												
PCDHA8	56140	broad.mit.edu	37	5	140222046	140222046	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140222046T>C	uc003lhs.2	+	1	1140	c.1140T>C	c.(1138-1140)GGT>GGC	p.G380G	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.G380G	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	380	Cadherin 4.|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)			TCGATTCAGGTGCCAACGGGC	0.542												
PCDHA8	56140	broad.mit.edu	37	5	140223200	140223200	+	Missense_Mutation	SNP	C	C	T	rs111750019	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140223200C>T	uc003lhs.2	+	1	2294	c.2294C>T	c.(2293-2295)CCG>CTG	p.P765L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.P765L	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	765	Cytoplasmic (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)			GAGGGGCCACCGAAGACGGAC	0.587												
PCDHA11	56138	broad.mit.edu	37	5	140248772	140248772	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140248772C>T	uc003lia.2	+	1	942	c.84C>T	c.(82-84)AGC>AGT	p.S28S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.S28S	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	28					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGGGGAGCGGCCAGCTCC	0.622												
PCDHA13	56136	broad.mit.edu	37	5	140262962	140262962	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140262962C>T	uc003lif.2	+	1	1109	c.1109C>T	c.(1108-1110)GCC>GTC	p.A370V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.A370V|PCDHA13_uc003lid.2_Missense_Mutation_p.A370V	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	370	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCATTATTGCCCTAATCAGT	0.507												
PCDHA13	56136	broad.mit.edu	37	5	140263639	140263639	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140263639G>A	uc003lif.2	+	1	1786	c.1786G>A	c.(1786-1788)GCG>ACG	p.A596T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.A596T|PCDHA13_uc003lid.2_Missense_Mutation_p.A596T	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	596	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGGTGCGCGCGGTGGACGC	0.706												
PCDHB5	26167	broad.mit.edu	37	5	140515685	140515685	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140515685C>T	uc003liq.2	+	1	886	c.669C>T	c.(667-669)TCC>TCT	p.S223S		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	223	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCCAGGTCCGGGACCACCA	0.567												
PCDHB5	26167	broad.mit.edu	37	5	140516972	140516972	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140516972G>A	uc003liq.2	+	1	2173	c.1956G>A	c.(1954-1956)TCG>TCA	p.S652S		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	652	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCGCGCTCGGCCACCGCCA	0.726												
PCDHB5	26167	broad.mit.edu	37	5	140517397	140517397	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140517397T>C	uc003liq.2	+	1	2598	c.2381T>C	c.(2380-2382)TTA>TCA	p.L794S		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	794	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCTTTGGATTAAATTAGAGA	0.433												
PCDHB7	56129	broad.mit.edu	37	5	140554495	140554495	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140554495C>T	uc003lit.2	+	1	2253	c.2079C>T	c.(2077-2079)GCC>GCT	p.A693A	PCDHB8_uc011dai.1_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	693	Helical; (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCGTTGGCCTCGGTGTCTT	0.706												
PCDHB8	56128	broad.mit.edu	37	5	140559119	140559119	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140559119G>A	uc011dai.1	+	1	1690	c.1504G>A	c.(1504-1506)GCC>ACC	p.A502T	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	502	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGCCCCTCGCCTCCCTGGT	0.672												
PCDHB16	57717	broad.mit.edu	37	5	140562190	140562190	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140562190T>C	uc003liv.2	+	1	1211	c.56T>C	c.(55-57)GTT>GCT	p.V19A	PCDHB16_uc010jfw.1_Intron	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	19					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)			GTTTTCTTTGTTTTGCTGAGC	0.478												
PCDHB10	56126	broad.mit.edu	37	5	140574321	140574321	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140574321T>C	uc003lix.2	+	1	2370	c.2196T>C	c.(2194-2196)GGT>GGC	p.G732G		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	732	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCCCGAGGGTCCTTTTCCAG	0.662												
PCDHB12	56124	broad.mit.edu	37	5	140590121	140590121	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140590121C>T	uc003liz.2	+	1	1831	c.1642C>T	c.(1642-1644)CGC>TGC	p.R548C	PCDHB12_uc011dak.1_Missense_Mutation_p.R211C	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	548	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGCTGGTGCGCGTGCTGGT	0.706												
PCDHB14	56122	broad.mit.edu	37	5	140603564	140603564	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140603564G>A	uc003ljb.2	+	1	487	c.487G>A	c.(487-489)GGA>AGA	p.G163R	PCDHB14_uc011dal.1_Missense_Mutation_p.G10R	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	163	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTGGATGTCGGAAGCAACAG	0.408												
PCDHGA4	56111	broad.mit.edu	37	5	140737100	140737100	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140737100C>T	uc003ljq.1	+	1	2333	c.2333C>T	c.(2332-2334)ACG>ATG	p.T778M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGB2_uc003ljs.1_5'Flank|PCDHGA4_uc003ljp.1_Missense_Mutation_p.T778M|PCDHGB2_uc011dar.1_5'Flank	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	778	Cytoplasmic (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)			TATGCAGACACGCTCATCAGC	0.527												
PCDHGB4	8641	broad.mit.edu	37	5	140769364	140769364	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140769364A>C	uc003lkc.1	+	1	1913	c.1913A>C	c.(1912-1914)CAG>CCG	p.Q638P	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.Q638P	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	638	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGTCCGCCAGCGCCTTCTG	0.701												
PCDHGB5	56101	broad.mit.edu	37	5	140778761	140778761	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140778761C>T	uc003lkf.1	+	1	1067	c.1067C>T	c.(1066-1068)GCG>GTG	p.A356V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.A356V	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	356	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGAAAACGCGGTGCCTGGA	0.378												
PCDHGC4	56098	broad.mit.edu	37	5	140864818	140864818	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:140864818C>T	uc003lky.1	+	1	78	c.78C>T	c.(76-78)TAC>TAT	p.Y26Y	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Silent_p.Y26Y	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4 isoform 1	26					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)			ACCTGGGTTACGTTTGTGGGC	0.537												
RBM27	54439	broad.mit.edu	37	5	145609441	145609441	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:145609441G>A	uc003lnz.3	+	5	723	c.557G>A	c.(556-558)CGC>CAC	p.R186H	RBM27_uc003lny.2_Missense_Mutation_p.R186H	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	186	Arg-rich.				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			central_nervous_system(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTAGGGGGCGCAGCAAAGAC	0.418												
PPP2R2B	5521	broad.mit.edu	37	5	146077585	146077585	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:146077585C>T	uc003loe.2	-	3	816	c.291G>A	c.(289-291)TGG>TGA	p.W97*	PPP2R2B_uc010jgm.2_Nonsense_Mutation_p.W86*|PPP2R2B_uc003log.3_Nonsense_Mutation_p.W97*|PPP2R2B_uc003lof.3_Nonsense_Mutation_p.W97*|PPP2R2B_uc003loi.3_Nonsense_Mutation_p.W100*|PPP2R2B_uc003loh.3_Nonsense_Mutation_p.W97*|PPP2R2B_uc003loj.3_Nonsense_Mutation_p.W77*|PPP2R2B_uc003lok.3_Nonsense_Mutation_p.W86*|PPP2R2B_uc011dbu.1_Nonsense_Mutation_p.W103*|PPP2R2B_uc011dbv.1_Nonsense_Mutation_p.W155*	NM_004576	NP_004567	Q00005	2ABB_HUMAN	beta isoform of regulatory subunit B55, protein	97	WD 2.				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(1)|prostate(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTGGGGGAGCCATCTTATTT	0.388												
DPYSL3	1809	broad.mit.edu	37	5	146788353	146788353	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:146788353T>C	uc003lon.1	-	7	738	c.628A>G	c.(628-630)ACC>GCC	p.T210A	DPYSL3_uc003loo.2_Missense_Mutation_p.T324A	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	210					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACATGCGGGTTTGCTCCTGA	0.418												
CSNK1A1	1452	broad.mit.edu	37	5	148886637	148886637	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:148886637T>G	uc003lqx.1	-	8	1290	c.810A>C	c.(808-810)GAA>GAC	p.E270D	CSNK1A1_uc011dcb.1_Missense_Mutation_p.E179D|CSNK1A1_uc011dcc.1_Missense_Mutation_p.E209D|CSNK1A1_uc003lqv.1_Missense_Mutation_p.E181D|CSNK1A1_uc003lqw.1_Missense_Mutation_p.E298D|CSNK1A1_uc003lqy.1_Missense_Mutation_p.E270D|CSNK1A1_uc010jha.1_Missense_Mutation_p.E270D	NM_001892	NP_001883	P48729	KC1A_HUMAN	casein kinase 1, alpha 1 isoform 2	270	Protein kinase.				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein binding|protein serine/threonine kinase activity			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		AATCTGGGGCTTCCTCAAAGC	0.373												
TIGD6	81789	broad.mit.edu	37	5	149375905	149375905	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:149375905T>C	uc003lri.2	-	2	769	c.7A>G	c.(7-9)AAC>GAC	p.N3D	TIGD6_uc003lrj.2_Missense_Mutation_p.N3D	NM_030953	NP_112215	Q17RP2	TIGD6_HUMAN	hypothetical protein LOC81789	3	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TTCCCCTTGTTTGCCATTTCC	0.512												
CSF1R	1436	broad.mit.edu	37	5	149460351	149460351	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:149460351C>T	uc003lrl.2	-	2	481	c.286G>A	c.(286-288)GCC>ACC	p.A96T	CSF1R_uc011dcd.1_5'UTR|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.A96T|CSF1R_uc011dce.1_Missense_Mutation_p.A96T|CSF1R_uc011dcf.1_Missense_Mutation_p.A96T	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	96	Ig-like C2-type 1.|Extracellular (Potential).				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	AGGTGGATGGCGGCGCTGCCT	0.582												
TCOF1	6949	broad.mit.edu	37	5	149751643	149751643	+	Silent	SNP	G	G	A	rs147186583	by1000genomes	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:149751643G>A	uc003lry.2	+	7	822	c.714G>A	c.(712-714)GCG>GCA	p.A238A	TCOF1_uc003lrw.2_Silent_p.A238A|TCOF1_uc011dch.1_Silent_p.A238A|TCOF1_uc003lrz.2_Silent_p.A238A|TCOF1_uc003lrx.2_Intron|TCOF1_uc003lsa.2_Intron	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	238					skeletal system development	nucleolus	protein binding|transporter activity			ovary(2)|large_intestine(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAGAAAGGCGGCCCCAGCCC	0.567												
FAT2	2196	broad.mit.edu	37	5	150887067	150887067	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:150887067G>A	uc003lue.3	-	22	12178	c.12165C>T	c.(12163-12165)GCC>GCT	p.A4055A	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Silent_p.A662A	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	4055	Helical; (Potential).				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAACGCCACGGCCACTGTGA	0.572												
SPARC	6678	broad.mit.edu	37	5	151043781	151043781	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:151043781G>A	uc003luh.2	-	8	774	c.750C>T	c.(748-750)ACC>ACT	p.T250T	GM2A_uc011dcs.1_Intron|SPARC_uc003lug.2_Silent_p.T84T|SPARC_uc003lui.2_Silent_p.T250T	NM_003118	NP_003109	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich	250					ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(1)	1		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	GAGCCAGCTCGGTGTGGGAGA	0.622												
LARP1	23367	broad.mit.edu	37	5	154181920	154181920	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:154181920G>A	uc003lvp.2	+	11	2499	c.2070G>A	c.(2068-2070)CTG>CTA	p.L690L	LARP1_uc003lvo.2_Silent_p.L613L|LARP1_uc010jie.1_Silent_p.L485L	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	690							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGCAGGACCTGTGGGCTGAAA	0.547												
ADAM19	8728	broad.mit.edu	37	5	156915296	156915296	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:156915296C>T	uc003lwz.2	-	21	2591	c.2527G>A	c.(2527-2529)GCA>ACA	p.A843T	ADAM19_uc003lww.1_Missense_Mutation_p.A576T|ADAM19_uc003lwy.2_Missense_Mutation_p.A442T|ADAM19_uc011ddr.1_Missense_Mutation_p.A774T	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19 preproprotein	843	Cytoplasmic (Potential).|SH3-binding (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAATTTGGTGCGGGGGGAATT	0.562												
DOCK2	1794	broad.mit.edu	37	5	169506070	169506070	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:169506070C>T	uc003maf.2	+	49	5166	c.5086C>T	c.(5086-5088)CGG>TGG	p.R1696W	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.R1188W|DOCK2_uc003mah.2_Missense_Mutation_p.R252W	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1696					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTCAAGCTGCGGAGGTCCAA	0.572												
STK10	6793	broad.mit.edu	37	5	171520517	171520517	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:171520517A>G	uc003mbo.1	-	9	1753	c.1453T>C	c.(1453-1455)TCG>CCG	p.S485P		NM_005990	NP_005981	O94804	STK10_HUMAN	serine/threonine kinase 10	485							ATP binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTGCAGTCCGAGTCCCTCTTG	0.607												
TSPAN17	26262	broad.mit.edu	37	5	176079825	176079825	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:176079825G>A	uc003met.2	+	4	596	c.367G>A	c.(367-369)GAC>AAC	p.D123N	TSPAN17_uc003mes.3_Missense_Mutation_p.D57N|TSPAN17_uc003meu.2_Missense_Mutation_p.D123N|TSPAN17_uc003mev.2_Missense_Mutation_p.D123N|TSPAN17_uc003mew.2_Missense_Mutation_p.D123N	NM_012171	NP_036303	Q96FV3	TSN17_HUMAN	transmembrane 4 superfamily member 17 isoform a	123	Extracellular (Potential).					integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity				0	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGATTCGAGACCAGCTCAA	0.522												
NSD1	64324	broad.mit.edu	37	5	176719126	176719126	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:176719126G>A	uc003mfr.3	+	22	6568	c.6430G>A	c.(6430-6432)GCA>ACA	p.A2144T	NSD1_uc003mft.3_Missense_Mutation_p.A1875T|NSD1_uc011dfx.1_Missense_Mutation_p.A1792T	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2144	PHD-type 4; atypical.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGTTTACCACGCAGACTGTCT	0.502			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)		
FAM193B	54540	broad.mit.edu	37	5	176966091	176966091	+	Translation_Start_Site	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:176966091G>A	uc003mhs.3	-	3	1518	c.-71C>T	c.(-73--69)AACGC>AATGC		FAM193B_uc003mht.2_5'Flank|FAM193B_uc003mhu.2_5'Flank|FAM193B_uc003mhv.2_Translation_Start_Site|FAM193B_uc003mhw.2_RNA	NM_019057	NP_061930	E9PET5	E9PET5_HUMAN	hypothetical protein LOC54540												0						CAGCCTTTGCGTTCCCGGTGA	0.587												
HNRNPAB	3182	broad.mit.edu	37	5	177633848	177633848	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:177633848C>A	uc003miu.2	+	4	751	c.494C>A	c.(493-495)GCC>GAC	p.A165D	HNRNPAB_uc003miv.2_Missense_Mutation_p.A165D|HNRNPAB_uc010jks.2_Missense_Mutation_p.A165D|HNRNPAB_uc003miw.2_Missense_Mutation_p.A165D|HNRNPAB_uc003mix.2_Missense_Mutation_p.A165D	NM_031266	NP_112556	Q99729	ROAA_HUMAN	heterogeneous nuclear ribonucleoprotein A/B	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding				0						AATCCTGAAGCCACTGAGGAA	0.537												
AGXT2L2	85007	broad.mit.edu	37	5	177642329	177642329	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:177642329T>C	uc003miz.2	-	9	1282	c.1030A>G	c.(1030-1032)ATG>GTG	p.M344V	AGXT2L2_uc003miy.2_Missense_Mutation_p.M69V|AGXT2L2_uc003mjc.2_Missense_Mutation_p.M303V|AGXT2L2_uc003mja.2_RNA|AGXT2L2_uc003mjb.2_Missense_Mutation_p.M69V|AGXT2L2_uc003mjd.1_Missense_Mutation_p.M202V	NM_153373	NP_699204	Q8IUZ5	AT2L2_HUMAN	alanine-glyoxylate aminotransferase 2-like 2	344						mitochondrion	pyridoxal phosphate binding|transaminase activity			pancreas(1)	1	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)	GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	AGGAGCTGCATCAGGAAGCTG	0.617												
GRM6	2916	broad.mit.edu	37	5	178413950	178413950	+	Silent	SNP	G	G	A	rs139745015		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:178413950G>A	uc003mjr.2	-	7	1568	c.1389C>T	c.(1387-1389)AAC>AAT	p.N463N	GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Silent_p.N46N|GRM6_uc003mjs.1_Silent_p.N83N	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	463	Extracellular (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GCGCATCTCCGTTCTCGTTGA	0.657												
RUFY1	80230	broad.mit.edu	37	5	178996343	178996343	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:178996343G>T	uc003mka.1	+	5	745	c.745G>T	c.(745-747)GGG>TGG	p.G249W	RUFY1_uc003mkb.1_Missense_Mutation_p.G141W|RUFY1_uc003mkc.1_Missense_Mutation_p.G141W	NM_025158	NP_079434	Q96T51	RUFY1_HUMAN	RUN and FYVE domain-containing 1 isoform a	249	RUN.				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			ovary(4)|breast(1)	5	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAGGAAGAAGGGATGGTGAT	0.473										HNSCC(44;0.11)		
BTNL9	153579	broad.mit.edu	37	5	180486592	180486592	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:180486592G>A	uc003mmt.2	+	11	1569	c.1338G>A	c.(1336-1338)CCG>CCA	p.P446P		NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9 precursor	446	Cytoplasmic (Potential).|B30.2/SPRY.					integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGTGCCCCCGCGGCGCCTGG	0.687												
C6orf145	221749	broad.mit.edu	37	6	3751713	3751713	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:3751713C>T	uc003mvt.2	-	1	534	c.53G>A	c.(52-54)GGC>GAC	p.G18D		NM_183373	NP_899229	Q5TGL8	CF145_HUMAN	hypothetical protein LOC221749	18	PX.				cell communication		phosphatidylinositol binding			breast(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CACCCAGCAGCCGCGCACGAA	0.622												
GCNT2	2651	broad.mit.edu	37	6	10529926	10529926	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:10529926A>G	uc010joo.2	+	3	1333	c.782A>G	c.(781-783)TAC>TGC	p.Y261C	GCNT2_uc010jol.2_Intron|GCNT2_uc010jom.2_Intron|GCNT2_uc010jop.2_Intron|GCNT2_uc003mza.2_Intron|GCNT2_uc003mzc.3_Missense_Mutation_p.Y260C|GCNT2_uc010jon.2_Missense_Mutation_p.Y260C	NM_145649	NP_663624	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2,	261	Lumenal (Potential).					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(2)	2	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		ATGGTGATTTACTTTGGCACG	0.453												
CAP2	10486	broad.mit.edu	37	6	17551823	17551823	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:17551823G>T	uc003ncb.2	+	12	1581	c.1338G>T	c.(1336-1338)CAG>CAT	p.Q446H	CAP2_uc010jpk.1_RNA|CAP2_uc011dja.1_Missense_Mutation_p.Q420H|CAP2_uc011djb.1_Missense_Mutation_p.Q382H|CAP2_uc011djc.1_Missense_Mutation_p.Q334H|CAP2_uc011djd.1_Missense_Mutation_p.Q186H	NM_006366	NP_006357	P40123	CAP2_HUMAN	adenylyl cyclase-associated protein 2	446	C-CAP/cofactor C-like.				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			ovary(1)	1	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TTATCCCTCAGGATGGTGATT	0.383												
NRSN1	140767	broad.mit.edu	37	6	24145884	24145884	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:24145884G>A	uc010jpq.1	+	4	535	c.298G>A	c.(298-300)GTG>ATG	p.V100M		NM_080723	NP_542454	Q8IZ57	NRSN1_HUMAN	neurensin 1	100					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle					0						CGATTTTGTGGTGGTCGACAC	0.517												
ZNF192	7745	broad.mit.edu	37	6	28121148	28121148	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:28121148G>A	uc003nkn.1	+	6	1274	c.1090G>A	c.(1090-1092)GCC>ACC	p.A364T	ZNF192_uc010jqx.1_Missense_Mutation_p.A364T|ZNF192_uc010jqy.1_Missense_Mutation_p.A177T|ZNF192_uc011dkz.1_Missense_Mutation_p.A177T	NM_006298	NP_006289	Q15776	ZN192_HUMAN	zinc finger protein 192	364	C2H2-type 2.				viral reproduction	cytoplasm|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TTACAGGTCAGCCCTTCTTTC	0.483												
GPX6	257202	broad.mit.edu	37	6	28472268	28472268	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:28472268C>T	uc011dlj.1	-	6	517	c.467G>A	c.(466-468)TGC>TAC	p.C156Y	GPX6_uc010jrg.1_RNA	NM_182701	NP_874360	P59796	GPX6_HUMAN	glutathione peroxidase 6 precursor	156					response to oxidative stress	extracellular region	glutathione peroxidase activity			ovary(3)|pancreas(1)|skin(1)	5					Glutathione(DB00143)	GGTCGGAGGGCAGGAGTTCTG	0.438												
SCAND3	114821	broad.mit.edu	37	6	28543694	28543694	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:28543694G>A	uc003nlo.2	-	3	1406	c.788C>T	c.(787-789)GCG>GTG	p.A263V		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	263	Potential.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TTCCTTTTTCGCCTTAGCTTT	0.358												
BAT3	7917	broad.mit.edu	37	6	31609931	31609931	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:31609931C>T	uc003nvg.3	-	15	2517	c.2203G>A	c.(2203-2205)GGA>AGA	p.G735R	BAT3_uc003nvf.3_Missense_Mutation_p.G729R|BAT3_uc003nvh.3_Missense_Mutation_p.G729R|BAT3_uc003nvi.3_Missense_Mutation_p.G729R|BAT3_uc011dnw.1_Missense_Mutation_p.G729R|BAT3_uc011dnx.1_Missense_Mutation_p.G603R	NM_004639	NP_004630	P46379	BAG6_HUMAN	HLA-B associated transcript-3 isoform a	735					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding				0						TTGCTGGATCCACTGAGGCGT	0.577												
C6orf47	57827	broad.mit.edu	37	6	31626870	31626870	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:31626870C>T	uc003nvm.1	-	1	1680	c.855G>A	c.(853-855)GAG>GAA	p.E285E		NM_021184	NP_067007	O95873	CF047_HUMAN	G4 protein	285										ovary(1)	1						CTCCCCTCTGCTCCTCACCTT	0.617												
SKIV2L	6499	broad.mit.edu	37	6	31936512	31936512	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:31936512T>C	uc003nyn.1	+	25	3508	c.3119T>C	c.(3118-3120)CTG>CCG	p.L1040P	SKIV2L_uc011dou.1_Missense_Mutation_p.L882P|SKIV2L_uc011dov.1_Missense_Mutation_p.L847P|STK19_uc003nyt.2_5'Flank	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	1040						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						ATGGAGCGGCTGCGCTTCCTA	0.612												
NOTCH4	4855	broad.mit.edu	37	6	32166763	32166763	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:32166763C>T	uc003obb.2	-	24	4614	c.4475G>A	c.(4474-4476)CGG>CAG	p.R1492Q	NOTCH4_uc011dpt.1_5'Flank|NOTCH4_uc003oba.2_Missense_Mutation_p.R155Q|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc011dpw.1_5'Flank	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1492	Cytoplasmic (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						TGACTGAGTCCGAGGCCGTCG	0.642												
BRD2	6046	broad.mit.edu	37	6	32942267	32942267	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:32942267C>T	uc003ocn.3	+	3	1759	c.58C>T	c.(58-60)CTG>TTG	p.L20L	BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Silent_p.L20L|BRD2_uc003ocp.3_5'UTR|BRD2_uc010juh.2_Silent_p.L20L	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	20					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						TGCAGGGTTGCTGGGGCTGGG	0.527												
TAPBP	6892	broad.mit.edu	37	6	33272822	33272822	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:33272822G>A	uc003odx.1	-	4	983	c.812C>T	c.(811-813)GCC>GTC	p.A271V	TAPBP_uc010jus.1_Missense_Mutation_p.A289V|TAPBP_uc003ody.2_Missense_Mutation_p.A271V|TAPBP_uc003odz.2_Missense_Mutation_p.A271V|TAPBP_uc010jut.1_Missense_Mutation_p.A184V|TAPBP_uc011drc.1_Missense_Mutation_p.A271V	NM_003190	NP_003181	O15533	TPSN_HUMAN	tapasin isoform 1 precursor	271	Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			ovary(1)	1						GTGTATGGTGGCCAGATAGGT	0.577												
ITPR3	3710	broad.mit.edu	37	6	33648141	33648141	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:33648141C>T	uc011drk.1	+	32	4479	c.4260C>T	c.(4258-4260)TGC>TGT	p.C1420C		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	1420	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						TGAACCACTGCTACGTGGACA	0.602												
ITPR3	3710	broad.mit.edu	37	6	33650343	33650343	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:33650343C>T	uc011drk.1	+	34	4738	c.4519C>T	c.(4519-4521)CGC>TGC	p.R1507C		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	1507	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						GTCTACCACACGCCTCCTCGA	0.662												
C6orf1	221491	broad.mit.edu	37	6	34214513	34214513	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:34214513A>G	uc003ojf.2	-	5	850	c.258T>C	c.(256-258)CTT>CTC	p.L86L	uc003oje.1_5'Flank|C6orf1_uc003ojg.2_Silent_p.L86L|C6orf1_uc003ojh.2_Silent_p.L86L|C6orf1_uc003oji.2_RNA	NM_178508	NP_848603	Q86T20	CF001_HUMAN	hypothetical protein LOC221491 precursor	86						extracellular region					0		Ovarian(999;0.0228)		BRCA - Breast invasive adenocarcinoma(397;1.11e-10)		ACAGCAGGGGAAGCAGATGGC	0.642											OREG0017364	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DNAH8	1769	broad.mit.edu	37	6	38994432	38994432	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:38994432T>C	uc003ooe.1	+	90	13774	c.13174T>C	c.(13174-13176)TCA>CCA	p.S4392P		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						GGAGATCACGTCACCCCCTGG	0.532												
KCNK16	83795	broad.mit.edu	37	6	39284590	39284590	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:39284590A>T	uc003ooq.2	-	4	643	c.629T>A	c.(628-630)CTC>CAC	p.L210H	KCNK17_uc003ooo.2_5'Flank|KCNK17_uc003oop.2_5'Flank|KCNK16_uc003oor.3_Missense_Mutation_p.L210H|KCNK16_uc010jwy.2_Missense_Mutation_p.L210H|KCNK16_uc011dtz.1_Missense_Mutation_p.L210H	NM_032115	NP_115491	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	210						integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(1)	3						AATGGTGCTGAGAGTGATGAA	0.537												
KLHDC3	116138	broad.mit.edu	37	6	42985279	42985279	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:42985279G>A	uc003otl.2	+	3	346	c.177G>A	c.(175-177)CTG>CTA	p.L59L	KLHDC3_uc003otm.2_RNA|KLHDC3_uc010jyf.2_Silent_p.L59L|KLHDC3_uc003otn.2_5'UTR|KLHDC3_uc003oto.2_Intron	NM_057161	NP_476502	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	59	Kelch 1.				reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			upper_aerodigestive_tract(1)	1			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGACAAAGCTGCCCCCGGTGA	0.587												
TDRD6	221400	broad.mit.edu	37	6	46658738	46658738	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:46658738G>T	uc003oyj.2	+	1	2873	c.2873G>T	c.(2872-2874)AGA>ATA	p.R958I	TDRD6_uc010jze.2_Missense_Mutation_p.R952I	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	958					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)			AGACTTGCAAGACCAGTAAAA	0.373												
PKHD1	5314	broad.mit.edu	37	6	51777171	51777171	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:51777171G>T	uc003pah.1	-	38	6601	c.6325C>A	c.(6325-6327)CCT>ACT	p.P2109T	PKHD1_uc010jzn.1_Missense_Mutation_p.P134T|PKHD1_uc003pai.2_Missense_Mutation_p.P2109T	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	2109	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TACCTCAAAGGTGACTTAAGA	0.433												
BAI3	577	broad.mit.edu	37	6	69653793	69653793	+	Silent	SNP	A	A	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:69653793A>C	uc003pev.3	+	6	1550	c.1102A>C	c.(1102-1104)AGA>CGA	p.R368R	BAI3_uc010kak.2_Silent_p.R368R	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	368	Extracellular (Potential).|TSP type-1 2.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				CCAAAGAACAAGAACAAGGTC	0.458												
HTR1B	3351	broad.mit.edu	37	6	78172393	78172393	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:78172393G>A	uc003pil.1	-	1	728	c.728C>T	c.(727-729)ACG>ATG	p.T243M		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	243	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)	CCTGTTGGGCGTCTGTTTCAA	0.612												
KIAA1009	22832	broad.mit.edu	37	6	84913717	84913717	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:84913717T>C	uc010kbp.2	-	7	766	c.669A>G	c.(667-669)AAA>AAG	p.K223K	KIAA1009_uc003pkj.3_Silent_p.K147K|KIAA1009_uc003pkk.2_Silent_p.K223K	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	223					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		GCACACTTATTTTTTCTGATT	0.343												
TBX18	9096	broad.mit.edu	37	6	85453993	85453993	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:85453993G>C	uc003pkl.1	-	6	990	c.990C>G	c.(988-990)GAC>GAG	p.D330E	TBX18_uc010kbq.1_Missense_Mutation_p.D172E	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	330	T-box.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TGCGCCCGGAGTCTCGGAAGC	0.348												
MDN1	23195	broad.mit.edu	37	6	90360519	90360519	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:90360519C>T	uc003pnn.1	-	96	16079	c.15963G>A	c.(15961-15963)GCG>GCA	p.A5321A		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	5321					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)		GTGAAAGAGGCGCTGTTAAGA	0.483												
MDN1	23195	broad.mit.edu	37	6	90402711	90402711	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:90402711C>T	uc003pnn.1	-	63	10154	c.10038G>A	c.(10036-10038)CTG>CTA	p.L3346L		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	3346					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)		GCCGTGTGAGCAGATCCTGAA	0.602												
C6orf167	253714	broad.mit.edu	37	6	97720928	97720928	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:97720928T>C	uc003ppb.2	-	5	617	c.351A>G	c.(349-351)TCA>TCG	p.S117S	C6orf167_uc011eaf.1_Silent_p.S117S|C6orf167_uc010kcn.1_5'UTR|C6orf167_uc010kco.1_5'UTR|C6orf167_uc003ppc.2_Silent_p.S117S	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	117					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)		AGTGTAGAGTTGATACCTTCC	0.284												
SIM1	6492	broad.mit.edu	37	6	100897247	100897247	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:100897247C>T	uc003pqj.3	-	5	742	c.535G>A	c.(535-537)GGC>AGC	p.G179S	SIM1_uc010kcu.2_Missense_Mutation_p.G179S	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	179					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		ACCTTGTAGCCGCCACAGGTG	0.617												
OSTM1	28962	broad.mit.edu	37	6	108366005	108366005	+	Missense_Mutation	SNP	T	T	C	rs142270062		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:108366005T>C	uc003psd.2	-	6	1075	c.989A>G	c.(988-990)CAG>CGG	p.Q330R	OSTM1_uc003pse.1_5'Flank	NM_014028	NP_054747	Q86WC4	OSTM1_HUMAN	osteopetrosis associated transmembrane protein 1	330	Cytoplasmic (Potential).					integral to membrane				central_nervous_system(1)	1		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)		TGAATTTTCCTGAATATTTGC	0.299												
CDC40	51362	broad.mit.edu	37	6	110501676	110501676	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:110501676C>T	uc003pua.2	+	1	53	c.29C>T	c.(28-30)GCT>GTT	p.A10V	WASF1_uc003ptv.1_5'Flank|WASF1_uc003ptw.1_5'Flank|WASF1_uc003ptx.1_5'Flank|WASF1_uc003pty.1_5'Flank|WASF1_uc003ptz.1_5'Flank	NM_015891	NP_056975	O60508	PRP17_HUMAN	cell division cycle 40 homolog	10					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)		GCTCTGGCCGCTTCCTATGGT	0.597												
HS3ST5	222537	broad.mit.edu	37	6	114379310	114379310	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:114379310C>T	uc003pwg.3	-	2	184	c.152G>A	c.(151-153)CGC>CAC	p.R51H	uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.R51H	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine)	51	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			ovary(1)|pancreas(1)	2		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		AGCCTGAGTGCGGGCTCCACC	0.537												
GPRC6A	222545	broad.mit.edu	37	6	117113344	117113344	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:117113344T>C	uc003pxj.1	-	6	2764	c.2742A>G	c.(2740-2742)GTA>GTG	p.V914V	GPRC6A_uc003pxk.1_Silent_p.V739V|GPRC6A_uc003pxl.1_Silent_p.V843V	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	914	Cytoplasmic (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)|skin(2)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AAGTTTTAGATACACTTGTGG	0.418												
C6orf174	387104	broad.mit.edu	37	6	127796642	127796642	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:127796642C>T	uc003qbd.2	-	6	3394	c.2529G>A	c.(2527-2529)GCG>GCA	p.A843A	C6orf174_uc003qbc.2_5'UTR	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	843						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		CGTAGATGCGCGCCTCGGTGA	0.657												
C6orf58	352999	broad.mit.edu	37	6	127899903	127899903	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:127899903A>G	uc003qbh.2	+	2	386	c.374A>G	c.(373-375)GAC>GGC	p.D125G		NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN	hypothetical protein LOC352999 precursor	125						extracellular region					0				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		ATCTCTGTGGACAGTTGGTGG	0.438												
ENPP3	5169	broad.mit.edu	37	6	132014640	132014640	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:132014640C>T	uc003qcu.3	+	16	1635	c.1288C>T	c.(1288-1290)CGA>TGA	p.R430*	ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Nonsense_Mutation_p.R430*	NM_005021	NP_005012	O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	430	Extracellular (Potential).|Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			ovary(3)|skin(1)	4	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TTTTCAGTGCCGAAAACCTGA	0.338												
SLC2A12	154091	broad.mit.edu	37	6	134350539	134350539	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:134350539C>T	uc003qem.1	-	2	595	c.424G>A	c.(424-426)GTC>ATC	p.V142I		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose	142	Helical; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			ovary(1)	1	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GAGATGGAGACCCCTATGGCA	0.478												
MYB	4602	broad.mit.edu	37	6	135515019	135515019	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:135515019T>C	uc003qfc.2	+	7	1005	c.806T>C	c.(805-807)ATA>ACA	p.I269T	MYB_uc003qfh.2_Missense_Mutation_p.I269T|MYB_uc003qfi.2_Missense_Mutation_p.I269T|MYB_uc010kgi.2_Missense_Mutation_p.I269T|MYB_uc003qfq.2_Missense_Mutation_p.I269T|MYB_uc010kgj.2_Missense_Mutation_p.I269T|MYB_uc003qfo.2_Missense_Mutation_p.I269T|MYB_uc003qfu.2_Missense_Mutation_p.I269T|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_RNA|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_5'UTR|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_Missense_Mutation_p.I81T|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA|MYB_uc003qfb.1_Missense_Mutation_p.I269T|MYB_uc003qgd.1_Missense_Mutation_p.I81T|MYB_uc003qge.1_5'Flank	NM_005375	NP_005366	P10242	MYB_HUMAN	v-myb myeloblastosis viral oncogene homolog	269					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			lung(1)	1	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		CATGTAAATATAGTCAATGTC	0.428			T	NFIB	adenoid cystic carcinoma							
MAP3K5	4217	broad.mit.edu	37	6	136901470	136901470	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:136901470C>T	uc003qhc.2	-	25	3847	c.3486G>A	c.(3484-3486)GCG>GCA	p.A1162A	MAP3K5_uc011edj.1_Silent_p.A409A|MAP3K5_uc011edk.1_Silent_p.A1008A	NM_005923	NP_005914	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase	1162					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			ovary(2)|skin(2)|lung(1)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CTGTCTGTACCGCCTTCCGAA	0.403												
IL20RA	53832	broad.mit.edu	37	6	137325789	137325789	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:137325789T>C	uc003qhj.2	-	6	1266	c.833A>G	c.(832-834)CAC>CGC	p.H278R	IL20RA_uc011edl.1_Missense_Mutation_p.H229R|IL20RA_uc003qhk.2_Missense_Mutation_p.H167R|IL20RA_uc003qhi.2_Missense_Mutation_p.H10R	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha precursor	278	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)		TTTGCCAACGTGGATATATCG	0.423												
NMBR	4829	broad.mit.edu	37	6	142409703	142409703	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:142409703C>T	uc003qiu.2	-	1	234	c.93G>A	c.(91-93)CCG>CCA	p.P31P		NM_002511	NP_002502	P28336	NMBR_HUMAN	neuromedin B receptor	31	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			central_nervous_system(3)|breast(1)	4	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CGTCCGAGGCCGGCAGGAAAT	0.607												
GPR126	57211	broad.mit.edu	37	6	142688974	142688974	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:142688974G>A	uc010khc.2	+	3	783	c.372G>A	c.(370-372)GCG>GCA	p.A124A	GPR126_uc010khd.2_Silent_p.A124A|GPR126_uc010khe.2_Silent_p.A124A|GPR126_uc010khf.2_Silent_p.A124A|GPR126_uc003qix.2_Silent_p.A124A	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126 alpha 1	124	CUB.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		ACTCAAGTGCGAATGAGATGC	0.423												
HIVEP2	3097	broad.mit.edu	37	6	143091478	143091478	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:143091478G>A	uc003qjd.2	-	5	5141	c.4398C>T	c.(4396-4398)TAC>TAT	p.Y1466Y		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	1466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CAATCTGTCCGTACATCTTTT	0.522												
ADAT2	134637	broad.mit.edu	37	6	143755071	143755071	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:143755071C>G	uc003qjj.2	-	3	295	c.249G>C	c.(247-249)TGG>TGC	p.W83C	ADAT2_uc003qjk.1_RNA	NM_182503	NP_872309	Q7Z6V5	ADAT2_HUMAN	deaminase domain containing 1	83					tRNA processing		hydrolase activity|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)		TTTGACGACACCAATCGAGGA	0.493												
SHPRH	257218	broad.mit.edu	37	6	146262928	146262928	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:146262928A>G	uc003qlf.2	-	10	2720	c.2321T>C	c.(2320-2322)GTA>GCA	p.V774A	SHPRH_uc003qld.2_Missense_Mutation_p.V774A|SHPRH_uc003qle.2_Missense_Mutation_p.V774A|SHPRH_uc003qlg.1_Missense_Mutation_p.V330A|SHPRH_uc003qlj.1_Missense_Mutation_p.V663A	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	774	Helicase ATP-binding; second part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGAACGCAGTACATCATAGGT	0.413												
GRM1	2911	broad.mit.edu	37	6	146755562	146755562	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:146755562C>T	uc010khw.1	+	9	3685	c.3215C>T	c.(3214-3216)CCG>CTG	p.P1072L	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	1072	Gln/Pro-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)	CCGCCACCTCCGCAGCACCTG	0.682												
UST	10090	broad.mit.edu	37	6	149285605	149285605	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:149285605T>C	uc003qmg.2	+	5	883	c.587T>C	c.(586-588)TTA>TCA	p.L196S	uc003qmh.1_Intron	NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	196	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)		AACCGGTTCTTATCCAACTAT	0.498												
C6orf97	80129	broad.mit.edu	37	6	151857473	151857473	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:151857473G>A	uc003qol.2	+	2	167	c.78G>A	c.(76-78)TCG>TCA	p.S26S		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	26											0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)		ATCATCTTTCGGAAGTCCCGG	0.433												
SYNE1	23345	broad.mit.edu	37	6	152583314	152583314	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:152583314A>G	uc010kiw.2	-	101	19427	c.18825T>C	c.(18823-18825)CCT>CCC	p.P6275P	SYNE1_uc010kiv.2_Silent_p.P799P|SYNE1_uc003qos.3_Silent_p.P799P|SYNE1_uc003qot.3_Silent_p.P6204P|SYNE1_uc003qou.3_Silent_p.P6275P	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6275	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATAACACATCAGGTTTTTCGC	0.393										HNSCC(10;0.0054)		
TFB1M	51106	broad.mit.edu	37	6	155579107	155579107	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:155579107T>G	uc003qqj.3	-	7	968	c.904A>C	c.(904-906)AGC>CGC	p.S302R	TFB1M_uc003qqk.2_Intron|uc003qqi.1_5'Flank	NM_016020	NP_057104	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			skin(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		TCACAGAGGCTCTTAAAGTGT	0.468												
SLC22A2	6582	broad.mit.edu	37	6	160670319	160670319	+	Silent	SNP	G	G	A	rs147817271	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:160670319G>A	uc003qtf.2	-	4	941	c.771C>T	c.(769-771)TAC>TAT	p.Y257Y	SLC22A2_uc003qte.1_Silent_p.Y257Y|SLC22A2_uc003qth.1_3'UTR	NM_003058	NP_003049	O15244	S22A2_HUMAN	solute carrier family 22 member 2	257	Helical; (Potential).				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(1)|skin(1)	2		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GAGGAAGTGCGTAAGCCACCC	0.458												
LPA	4018	broad.mit.edu	37	6	161006078	161006078	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:161006078G>A	uc003qtl.2	-	27	4409	c.4289C>T	c.(4288-4290)GCT>GTT	p.A1430V		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3938	Kringle 35.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATAGACATACGCATTTGGATA	0.433												
PDE10A	10846	broad.mit.edu	37	6	165846524	165846524	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:165846524T>A	uc003qun.2	-	8	842	c.601A>T	c.(601-603)ATT>TTT	p.I201F	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.I131F|PDE10A_uc003quo.2_Missense_Mutation_p.I211F	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	201	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)|skin(2)	5		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	AGAATACCAATCAAGTCACCA	0.438												
THBS2	7058	broad.mit.edu	37	6	169637338	169637338	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:169637338C>T	uc003qwt.2	-	10	1652	c.1404G>A	c.(1402-1404)GTG>GTA	p.V468V		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	468	TSP type-1 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)		CCATCTGGGGCACTGGGGAGT	0.627												
PDGFA	5154	broad.mit.edu	37	7	550457	550457	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:550457G>A	uc003sir.2	-	4	1285	c.442C>T	c.(442-444)CGC>TGC	p.R148C	PDGFA_uc003sis.2_Missense_Mutation_p.R148C|PDGFA_uc003sit.1_Missense_Mutation_p.R162C	NM_002607	NP_002598	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha isoform 1	148					actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development	cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity				0		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		TTGACGCTGCGGTGGTGGACG	0.383												
HEATR2	54919	broad.mit.edu	37	7	819634	819634	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:819634G>A	uc010krz.1	+	12	2304	c.2284G>A	c.(2284-2286)GCA>ACA	p.A762T	HEATR2_uc003siz.2_Missense_Mutation_p.A630T|HEATR2_uc003sjb.2_Missense_Mutation_p.A142T|HEATR2_uc003sjc.2_Missense_Mutation_p.A187T	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	762	HEAT 9.						protein binding			skin(1)	1		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TGTGAGGATGGCAGCCGCCTC	0.527												
PSMG3	84262	broad.mit.edu	37	7	1607366	1607366	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:1607366T>C	uc003skx.2	-	2	991	c.337A>G	c.(337-339)AGG>GGG	p.R113G	PSMG3_uc011jvx.1_Missense_Mutation_p.R113G|KIAA1908_uc003sla.2_5'Flank|KIAA1908_uc003sky.1_5'Flank|KIAA1908_uc003skz.1_5'Flank	NM_032302	NP_115678	Q9BT73	PSMG3_HUMAN	proteasome assembling chaperone 3	113											0		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15)		ATCACCTCCCTCAGCGCCTTC	0.612												
SNX8	29886	broad.mit.edu	37	7	2309235	2309235	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:2309235C>T	uc003slw.2	-	5	623	c.580G>A	c.(580-582)GGG>AGG	p.G194R		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	194					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		AATTCGTCCCCGACGCACTGT	0.368												
AMZ1	155185	broad.mit.edu	37	7	2752320	2752320	+	Silent	SNP	C	C	T	rs144828698		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:2752320C>T	uc003smr.1	+	7	1666	c.1305C>T	c.(1303-1305)GAC>GAT	p.D435D	AMZ1_uc003sms.1_3'UTR|AMZ1_uc011jwa.1_Silent_p.D184D	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	435							metallopeptidase activity|zinc ion binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		GAGCCGTGGACGCCCTCGACC	0.687												
CARD11	84433	broad.mit.edu	37	7	2976789	2976789	+	Missense_Mutation	SNP	C	C	T	rs79513324	by1000genomes	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:2976789C>T	uc003smv.2	-	9	1627	c.1223G>A	c.(1222-1224)CGC>CAC	p.R408H		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	408	Potential.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CTCCAGCTCGCGGATCTGCTT	0.592			Mis		DLBCL							
ACTB	60	broad.mit.edu	37	7	5568128	5568128	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:5568128G>A	uc003sos.3	-	3	622	c.586C>T	c.(586-588)CGC>TGC	p.R196C	ACTB_uc003sor.3_Missense_Mutation_p.R74C|ACTB_uc003sot.3_Missense_Mutation_p.R196C|ACTB_uc003soq.3_Missense_Mutation_p.R74C|ACTB_uc010ksy.2_Missense_Mutation_p.R74C	NM_001101	NP_001092	P60709	ACTB_HUMAN	beta actin	196					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton				0		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CTGTAGCCGCGCTCGGTGAGG	0.612												
EIF2AK1	27102	broad.mit.edu	37	7	6066563	6066563	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:6066563C>T	uc003spp.2	-	14	1706	c.1560G>A	c.(1558-1560)CTG>CTA	p.L520L	EIF2AK1_uc003spq.2_Silent_p.L519L|EIF2AK1_uc011jwm.1_Silent_p.L396L	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha	520	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		AGAGCTCTAGCAGGACCACAC	0.443												
C7orf26	79034	broad.mit.edu	37	7	6647637	6647637	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:6647637G>A	uc003sqo.1	+	6	1195	c.1195G>A	c.(1195-1197)GCC>ACC	p.A399T	C7orf26_uc003sqp.1_Missense_Mutation_p.A302T|C7orf26_uc003sqq.1_Missense_Mutation_p.A200T	NM_024067	NP_076972	Q96N11	CG026_HUMAN	hypothetical protein LOC79034	399										ovary(1)	1		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		GTCGCCTCACGCCGCGCTCCC	0.741												
TSPAN13	27075	broad.mit.edu	37	7	16815913	16815913	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:16815913C>T	uc003stq.2	+	2	383	c.141C>T	c.(139-141)GGC>GGT	p.G47G		NM_014399	NP_055214	O95857	TSN13_HUMAN	tetraspan NET-6	47	Helical; (Potential).					integral to plasma membrane|membrane fraction				ovary(1)	1	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		GAGTGGTCGGCGTGGTCATTG	0.488												
TMEM196	256130	broad.mit.edu	37	7	19765226	19765226	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:19765226G>T	uc011jyg.1	-	3	455	c.370C>A	c.(370-372)CTC>ATC	p.L124I	TMEM196_uc003sur.2_RNA	NM_152774	NP_689987	Q5HYL7	TM196_HUMAN	transmembrane protein 196	130						integral to membrane					0						CGACAAGTGAGCCAGGAAGAG	0.517												
KLHL7	55975	broad.mit.edu	37	7	23205486	23205486	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:23205486C>T	uc003svs.3	+	8	1399	c.1106C>T	c.(1105-1107)CCG>CTG	p.P369L	KLHL7_uc003svr.3_Missense_Mutation_p.P347L|KLHL7_uc011jys.1_Missense_Mutation_p.P293L|KLHL7_uc011jyt.1_Missense_Mutation_p.P144L|KLHL7_uc003svt.2_Missense_Mutation_p.P321L|KLHL7_uc011jyv.1_Missense_Mutation_p.P144L	NM_001031710	NP_001026880	Q8IXQ5	KLHL7_HUMAN	kelch-like 7 isoform 1	369	Kelch 2.					Golgi apparatus|nucleolus|plasma membrane					0						CTGGGTCCTCCGACACCTCGA	0.433												
C7orf31	136895	broad.mit.edu	37	7	25194759	25194759	+	Missense_Mutation	SNP	G	G	A	rs145873141	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:25194759G>A	uc003sxn.1	-	6	1027	c.466C>T	c.(466-468)CGC>TGC	p.R156C	C7orf31_uc003sxm.1_5'UTR	NM_138811	NP_620166	Q8N865	CG031_HUMAN	hypothetical protein LOC136895	156											0						ATGGCGCCGCGACAGATGTGT	0.507												
FAM188B	84182	broad.mit.edu	37	7	30821830	30821830	+	Splice_Site	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:30821830T>C	uc003tbt.2	+	3	496	c.419_splice	c.e3+2	p.R140_splice	FAM188B_uc010kwe.2_Splice_Site_p.R111_splice	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	hypothetical protein LOC84182												0						CAAAGCCAGGTATCTTTTCCC	0.234												
CCDC129	223075	broad.mit.edu	37	7	31617485	31617485	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:31617485C>T	uc003tcj.1	+	8	1600	c.607C>T	c.(607-609)CGA>TGA	p.R203*	CCDC129_uc011kad.1_Nonsense_Mutation_p.R213*|CCDC129_uc003tci.1_Nonsense_Mutation_p.R202*|CCDC129_uc011kae.1_Nonsense_Mutation_p.R229*|CCDC129_uc003tck.1_Nonsense_Mutation_p.R111*	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	203											0						AGGTCGTTTCCGACAGCTGGA	0.458												
KIAA0895	23366	broad.mit.edu	37	7	36423468	36423468	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:36423468C>A	uc003tfd.2	-	2	229	c.178G>T	c.(178-180)GAA>TAA	p.E60*		NM_001100425	NP_001093895	Q8NCT3	K0895_HUMAN	hypothetical protein LOC23366 isoform 1	60											0						GCCAAATAACCTGAGGTAGAG	0.259												
SFRP4	6424	broad.mit.edu	37	7	37951805	37951805	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:37951805G>A	uc003tfo.3	-	4	1093	c.707C>T	c.(706-708)CCG>CTG	p.P236L		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related  protein 4 precursor	236	NTR.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(1)	1						TGTAATGAGCGGGACTTGAGT	0.493												
GLI3	2737	broad.mit.edu	37	7	42012169	42012169	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:42012169G>T	uc011kbh.1	-	13	1961	c.1870C>A	c.(1870-1872)CTC>ATC	p.L624I	GLI3_uc011kbg.1_Missense_Mutation_p.L565I	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	624	C2H2-type 5.				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						TGTTTCCGGAGGGAGCTTGGG	0.537									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
GLI3	2737	broad.mit.edu	37	7	42063102	42063102	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:42063102C>T	uc011kbh.1	-	10	1553	c.1462G>A	c.(1462-1464)GCG>ACG	p.A488T	GLI3_uc011kbg.1_Missense_Mutation_p.A429T	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	488	C2H2-type 1.				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						AACTCCCTCGCGCAGCCTTCC	0.532									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
IGFBP1	3484	broad.mit.edu	37	7	45928343	45928343	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:45928343C>T	uc003tnp.2	+	1	385	c.92C>T	c.(91-93)GCG>GTG	p.A31V	IGFBP1_uc003tno.3_Missense_Mutation_p.A31V|IGFBP1_uc010kyn.2_Missense_Mutation_p.A31V	NM_000596	NP_000587	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	31	IGFBP N-terminal.					extracellular space	insulin-like growth factor binding			lung(1)	1						TGGCAGTGCGCGCCCTGCTCC	0.721												
TNS3	64759	broad.mit.edu	37	7	47385927	47385927	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:47385927C>T	uc003tnv.2	-	18	2676	c.2309G>A	c.(2308-2310)GGG>GAG	p.G770E	TNS3_uc003tnw.2_Missense_Mutation_p.G770E	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	770						focal adhesion	protein binding			ovary(4)	4						CCTGAGTCTCCCGCCCAGGGG	0.602												
DDC	1644	broad.mit.edu	37	7	50607613	50607613	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:50607613C>A	uc003tpf.3	-	3	401	c.315G>T	c.(313-315)TGG>TGT	p.W105C	DDC_uc010kza.2_Missense_Mutation_p.W105C|DDC_uc003tpg.3_Missense_Mutation_p.W105C	NM_000790	NP_000781	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid	105	1.|2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(2)	2	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GGACCCTCACCCAGGAGAAGC	0.647												
CCT6A	908	broad.mit.edu	37	7	56126114	56126114	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:56126114C>T	uc003trl.1	+	7	949	c.785C>T	c.(784-786)GCT>GTT	p.A262V	PSPH_uc003trj.2_Intron|CCT6A_uc003trm.1_Missense_Mutation_p.A217V|CCT6A_uc011kcu.1_Missense_Mutation_p.A231V|SNORA15_uc003trn.1_5'Flank	NM_001762	NP_001753	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A isoform	262					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			upper_aerodigestive_tract(1)	1	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTCGTGAAAGCTGAAAGAAAA	0.308												
ZNF479	90827	broad.mit.edu	37	7	57188194	57188194	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:57188194A>G	uc010kzo.2	-	5	1199	c.928T>C	c.(928-930)TCA>CCA	p.S310P		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	310	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(1)	4			GBM - Glioblastoma multiforme(1;9.18e-12)			GTGAGGGTTGAGGATACGCTA	0.468												
ZNF479	90827	broad.mit.edu	37	7	57194337	57194337	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:57194337T>C	uc010kzo.2	-	3	399	c.128A>G	c.(127-129)GAT>GGT	p.D43G		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(1)	4			GBM - Glioblastoma multiforme(1;9.18e-12)			TAACATCACATCTCTATATAA	0.383												
GUSB	2990	broad.mit.edu	37	7	65445384	65445384	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:65445384C>T	uc003tun.2	-	2	299	c.223G>A	c.(223-225)GTG>ATG	p.V75M	GUSB_uc011kdt.1_Missense_Mutation_p.V75M|GUSB_uc010kzw.1_Translation_Start_Site	NM_000181	NP_000172	P08236	BGLR_HUMAN	glucuronidase, beta precursor	75					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding				0						GGCATGTCCACGGTGGGGCCT	0.453												
FZD9	8326	broad.mit.edu	37	7	72849269	72849269	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:72849269C>T	uc003tyb.2	+	1	1161	c.932C>T	c.(931-933)ACG>ATG	p.T311M		NM_003508	NP_003499	O00144	FZD9_HUMAN	frizzled 9 precursor	311	Extracellular (Potential).				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTGGAGAACACGGGCTGCACG	0.667												
MAGI2	9863	broad.mit.edu	37	7	78636484	78636484	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:78636484A>C	uc003ugx.2	-	2	594	c.340T>G	c.(340-342)TTA>GTA	p.L114V	MAGI2_uc003ugy.2_Missense_Mutation_p.L114V	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	114	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGAAATCGTAAGTTGAGGTAG	0.388												
GRM3	2913	broad.mit.edu	37	7	86468905	86468905	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:86468905G>C	uc003uid.2	+	4	3174	c.2075G>C	c.(2074-2076)TGC>TCC	p.C692S	GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.C564S|GRM3_uc010leh.2_Missense_Mutation_p.C284S	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	692	Helical; Name=4; (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GTTTTCATCTGCCTGGGTCTG	0.542												
ADAM22	53616	broad.mit.edu	37	7	87759712	87759712	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:87759712C>A	uc003ujn.2	+	10	842	c.763C>A	c.(763-765)CAT>AAT	p.H255N	ADAM22_uc003ujj.1_Missense_Mutation_p.H255N|ADAM22_uc003ujk.1_Missense_Mutation_p.H255N|ADAM22_uc003ujl.1_Missense_Mutation_p.H255N|ADAM22_uc003ujm.2_Missense_Mutation_p.H255N|ADAM22_uc003ujo.2_Missense_Mutation_p.H255N|ADAM22_uc003ujp.1_Missense_Mutation_p.H307N	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	255	Peptidase M12B.|Extracellular (Potential).				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GTTTAAAAAACATCGGCTTTC	0.378												
ASB4	51666	broad.mit.edu	37	7	95167036	95167036	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:95167036T>C	uc011kij.1	+	5	1246	c.1246T>C	c.(1246-1248)TAC>CAC	p.Y416H		NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box-containing protein 4	416	SOCS box.				intracellular signal transduction					central_nervous_system(1)	1	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			ATTGAAAAAGTACTTGCTTTT	0.408												
DLX5	1749	broad.mit.edu	37	7	96653686	96653686	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:96653686C>T	uc003uon.2	-	1	458	c.250G>A	c.(250-252)GCC>ACC	p.A84T	DLX5_uc011kim.1_Missense_Mutation_p.A84T	NM_005221	NP_005212	P56178	DLX5_HUMAN	distal-less homeobox 5	84					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(1)	1	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TAGCTCCCGGCGGAGCCGTTC	0.617												
PTCD1	26024	broad.mit.edu	37	7	99027333	99027333	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:99027333C>T	uc003uqh.2	-	4	822	c.691G>A	c.(691-693)GCC>ACC	p.A231T	PTCD1_uc011kiw.1_Missense_Mutation_p.A280T	NM_015545	NP_056360	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	231	PPR 3.									ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			AGCTTCAGGGCGCTCTGTAGA	0.587												
ZSCAN21	7589	broad.mit.edu	37	7	99654893	99654893	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:99654893G>A	uc003uso.2	+	2	408	c.264G>A	c.(262-264)CTG>CTA	p.L88L	ZSCAN21_uc011kje.1_Silent_p.L87L|ZSCAN21_uc003usn.1_Silent_p.L87L	NM_145914	NP_666019	Q9Y5A6	ZSC21_HUMAN	zinc finger protein 38	88	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TGGAGCTACTGGTGCTGGAGC	0.637												
LRCH4	4034	broad.mit.edu	37	7	100175478	100175478	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:100175478G>A	uc003uvj.2	-	8	1059	c.1006C>T	c.(1006-1008)CGG>TGG	p.R336W	LRCH4_uc010lgz.2_RNA|LRCH4_uc003uvi.2_RNA|LRCH4_uc011kjw.1_5'UTR|LRCH4_uc011kjx.1_RNA	NM_002319	NP_002310	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH)	336					nervous system development	PML body	protein binding			large_intestine(1)|ovary(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGGGTCCCCGGGGCTCCCGG	0.607												
EPHB4	2050	broad.mit.edu	37	7	100410487	100410487	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:100410487A>G	uc003uwn.1	-	12	2491	c.2000T>C	c.(1999-2001)ATC>ACC	p.I667T	EPHB4_uc003uwm.1_Missense_Mutation_p.I574T|EPHB4_uc010lhj.1_Missense_Mutation_p.I667T	NM_004444	NP_004435	P54760	EPHB4_HUMAN	EPH receptor B4 precursor	667	Cytoplasmic (Potential).|Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTGGCCCATGATGGAGGCCTC	0.602												
MUC17	140453	broad.mit.edu	37	7	100678679	100678679	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:100678679C>T	uc003uxp.1	+	3	4035	c.3982C>T	c.(3982-3984)CCA>TCA	p.P1328S	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1328	Extracellular (Potential).|20.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCTCAAC	0.458												
MUC17	140453	broad.mit.edu	37	7	100680822	100680822	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:100680822G>A	uc003uxp.1	+	3	6178	c.6125G>A	c.(6124-6126)CGG>CAG	p.R2042Q	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2042	Extracellular (Potential).|32.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTAGTGAACGGACCACTCCA	0.507												
TRIM56	81844	broad.mit.edu	37	7	100732127	100732127	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:100732127G>T	uc003uxq.2	+	3	1765	c.1534G>T	c.(1534-1536)GGG>TGG	p.G512W	TRIM56_uc003uxr.2_Intron	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	tripartite motif-containing 56	512					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|central_nervous_system(1)|skin(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)					CCGGATCACCGGGCTCTGTCC	0.652												
CUX1	1523	broad.mit.edu	37	7	101837172	101837172	+	Splice_Site	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:101837172T>C	uc003uyx.3	+	13	1163	c.1125_splice	c.e13+2	p.Q375_splice	CUX1_uc003uys.3_Splice_Site_p.Q386_splice|CUX1_uc003uyt.2_Splice_Site_p.Q386_splice|CUX1_uc011kkn.1_Splice_Site_p.Q347_splice|CUX1_uc003uyw.2_Splice_Site_p.Q340_splice|CUX1_uc003uyv.2_Splice_Site_p.Q370_splice|CUX1_uc003uyu.2_Splice_Site_p.Q384_splice	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a						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						GGGACACAGGTACGTGTCTCA	0.493												
FBXL13	222235	broad.mit.edu	37	7	102604003	102604003	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:102604003C>T	uc003vaq.2	-	8	1128	c.701G>A	c.(700-702)CGA>CAA	p.R234Q	FBXL13_uc010liq.1_Missense_Mutation_p.R49Q|FBXL13_uc010lir.1_Missense_Mutation_p.R234Q|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.R234Q|FBXL13_uc003vav.2_RNA	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13 isoform	234	LRR 1.										0						AGTTTTGGGTCGGAGAAGACA	0.338												
COG5	10466	broad.mit.edu	37	7	106876896	106876896	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:106876896T>G	uc003ved.2	-	17	2645	c.2120A>C	c.(2119-2121)CAG>CCG	p.Q707P	COG5_uc003vec.2_Missense_Mutation_p.Q728P|COG5_uc003vee.2_Missense_Mutation_p.Q728P	NM_181733	NP_859422	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	707					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)|skin(2)	4						TCAATGTACCTGTGCAAAATC	0.378												
DOCK4	9732	broad.mit.edu	37	7	111368525	111368525	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:111368525C>T	uc003vfx.2	-	52	5975	c.5706G>A	c.(5704-5706)CCG>CCA	p.P1902P	DOCK4_uc011kml.1_Silent_p.P783P|DOCK4_uc011kmm.1_Silent_p.P771P|DOCK4_uc003vfw.2_Silent_p.P1314P|DOCK4_uc003vfy.2_Silent_p.P1947P|DOCK4_uc003vfv.2_Silent_p.P215P	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1902	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				AGACGCTGTACGGGGGCGGAG	0.716												
FAM3C	10447	broad.mit.edu	37	7	121019010	121019010	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:121019010A>G	uc003vjx.2	-	3	320	c.72T>C	c.(70-72)TCT>TCC	p.S24S	FAM3C_uc010lkm.2_Silent_p.S24S	NM_014888	NP_055703	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	24					multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity				0	all_neural(327;0.117)					CAAATACTTGAGAAATAACAT	0.318												
CADPS2	93664	broad.mit.edu	37	7	122194640	122194640	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:122194640A>G	uc010lkp.2	-	8	1602	c.1439T>C	c.(1438-1440)GTG>GCG	p.V480A	CADPS2_uc003vkg.3_Missense_Mutation_p.V180A|CADPS2_uc010lkq.2_Missense_Mutation_p.V480A	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	480					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2						ATCCATTCGCACTGCCAGTTT	0.333												
GPR37	2861	broad.mit.edu	37	7	124404242	124404242	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:124404242C>T	uc003vli.2	-	1	1440	c.789G>A	c.(787-789)GCG>GCA	p.A263A		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	263	Extracellular (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|lung(1)|central_nervous_system(1)	3						GACACATGACCGCGTAGGCTC	0.602												
GCC1	79571	broad.mit.edu	37	7	127222705	127222705	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:127222705C>T	uc003vma.2	-	2	2109	c.1691G>A	c.(1690-1692)CGG>CAG	p.R564Q		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Golgi coiled-coil protein 1	564	Potential.					Golgi membrane|plasma membrane	protein binding			ovary(2)	2						CAGCTCCTGCCGGTGGAGCTG	0.637												
FSCN3	29999	broad.mit.edu	37	7	127235583	127235583	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:127235583G>A	uc003vmd.1	+	2	586	c.367G>A	c.(367-369)GTG>ATG	p.V123M	FSCN3_uc003vmc.1_Missense_Mutation_p.V78M|FSCN3_uc011kog.1_RNA|FSCN3_uc011koh.1_Translation_Start_Site|FSCN3_uc010llc.1_Missense_Mutation_p.V123M	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	fascin 3	123						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1						TGGCAAGGACGTGTTTTGCAC	0.567												
PAX4	5078	broad.mit.edu	37	7	127255502	127255502	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:127255502G>T	uc010lld.1	-	1	279	c.73C>A	c.(73-75)CTA>ATA	p.L25I	PAX4_uc003vmf.2_5'UTR|PAX4_uc003vmg.1_Missense_Mutation_p.L25I|PAX4_uc003vmh.2_5'UTR	NM_006193	NP_006184	O43316	PAX4_HUMAN	paired box 4	33	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CTGACTGCTAGCCGCACAATC	0.592												
IMPDH1	3614	broad.mit.edu	37	7	128035288	128035288	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:128035288C>A	uc011kol.1	-	10	1153	c.1047G>T	c.(1045-1047)AAG>AAT	p.K349N	IMPDH1_uc011kom.1_Missense_Mutation_p.K344N|IMPDH1_uc003vmt.2_Missense_Mutation_p.K324N|IMPDH1_uc003vmu.2_Missense_Mutation_p.K434N|IMPDH1_uc003vmw.2_Missense_Mutation_p.K424N|IMPDH1_uc011kon.1_Missense_Mutation_p.K401N|IMPDH1_uc003vmv.2_Missense_Mutation_p.K398N|IMPDH1_uc003vmx.2_Missense_Mutation_p.K357N|IMPDH1_uc003vmy.2_Missense_Mutation_p.K365N|uc011koo.1_5'Flank	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	inosine monophosphate dehydrogenase 1 isoform e	349					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			skin(2)|lung(1)|central_nervous_system(1)	4					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	ACTCAGCCACCTTGTACACAG	0.647												
FLNC	2318	broad.mit.edu	37	7	128488118	128488118	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:128488118C>T	uc003vnz.3	+	26	4785	c.4576C>T	c.(4576-4578)CGC>TGC	p.R1526C	FLNC_uc003voa.3_Missense_Mutation_p.R1526C	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1526	Filamin 13.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						GGAGGTGCCACGCAGGTGAGG	0.652												
FLNC	2318	broad.mit.edu	37	7	128488733	128488733	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:128488733C>T	uc003vnz.3	+	27	4908	c.4699C>T	c.(4699-4701)CGG>TGG	p.R1567W	FLNC_uc003voa.3_Missense_Mutation_p.R1567W	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1567	Filamin 14.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						CATCGACGCACGGGACGCGGG	0.662												
DGKI	9162	broad.mit.edu	37	7	137304593	137304593	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:137304593T>C	uc003vtt.2	-	8	971	c.970A>G	c.(970-972)ATC>GTC	p.I324V	DGKI_uc003vtu.2_Missense_Mutation_p.I24V	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	324					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3						ACCTTAATGATCCAAGTGGGC	0.512												
WEE2	494551	broad.mit.edu	37	7	141418950	141418950	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:141418950G>A	uc003vwn.2	+	4	1070	c.664G>A	c.(664-666)GAA>AAA	p.E222K	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	WEE1 homolog 2	222	ATP (By similarity).|Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2	Melanoma(164;0.0171)					TGGGGTTGGCGAATTTGGTAC	0.358												
MGAM	8972	broad.mit.edu	37	7	141747669	141747669	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:141747669G>A	uc003vwy.2	+	22	2637	c.2583G>A	c.(2581-2583)ACG>ACA	p.T861T		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	861	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATGGGGAAACGAAGGGTGAGC	0.458												
CNTNAP2	26047	broad.mit.edu	37	7	146536911	146536911	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:146536911G>A	uc003weu.1	+	3	833	c.317G>A	c.(316-318)AGC>AAC	p.S106N		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	106	F5/8 type C.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGGTATAGCAGCTCAGATTGG	0.493										HNSCC(39;0.1)		
CUL1	8454	broad.mit.edu	37	7	148427309	148427309	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:148427309A>G	uc010lpg.2	+	2	621	c.95A>G	c.(94-96)TAC>TGC	p.Y32C	CUL1_uc003wey.2_Missense_Mutation_p.Y32C|CUL1_uc003wez.2_5'UTR	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	32					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CAGCAGGTGTACACACGGCAG	0.537												
CUL1	8454	broad.mit.edu	37	7	148484179	148484179	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:148484179C>T	uc010lpg.2	+	13	1972	c.1446C>T	c.(1444-1446)GAC>GAT	p.D482D	CUL1_uc003wey.2_Silent_p.D482D|CUL1_uc003wez.2_Silent_p.D372D|CUL1_uc003wfa.2_Silent_p.D143D	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	482					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GTGCAAGTGACGATGCCGAAG	0.413												
CUL1	8454	broad.mit.edu	37	7	148489867	148489867	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:148489867C>T	uc010lpg.2	+	17	2382	c.1856C>T	c.(1855-1857)GCC>GTC	p.A619V	CUL1_uc003wey.2_Missense_Mutation_p.A619V|CUL1_uc003wez.2_Missense_Mutation_p.A509V|CUL1_uc003wfa.2_Missense_Mutation_p.A280V	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	619					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			ACGGAAGATGCCTACACTGTG	0.463												
ABCB8	11194	broad.mit.edu	37	7	150742328	150742328	+	Silent	SNP	C	C	T	rs144165657	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:150742328C>T	uc003wil.3	+	17	2193	c.2100C>T	c.(2098-2100)GGC>GGT	p.G700G	ABCB8_uc010lpx.2_Silent_p.G658G|ABCB8_uc011kvd.1_Silent_p.G595G|ABCB8_uc003wim.3_Silent_p.G478G|ABCB8_uc003wik.3_Silent_p.G683G	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	700	ABC transporter.					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)		TGAAGAAAGGCGGGCTATACG	0.632												
CHPF2	54480	broad.mit.edu	37	7	150935141	150935141	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:150935141G>A	uc003wjr.1	+	4	3206	c.1693G>A	c.(1693-1695)GCT>ACT	p.A565T	CHPF2_uc003wjq.1_Missense_Mutation_p.A557T|MIR671_hsa-mir-671|MI0003760_5'Flank	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	565	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(1)	1						GGCCTGGCTCGCTGTGCGAGC	0.617												
MLL3	58508	broad.mit.edu	37	7	151873936	151873936	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:151873936T>C	uc003wla.2	-	38	8821	c.8602A>G	c.(8602-8604)ACT>GCT	p.T2868A	MLL3_uc003wkz.2_Missense_Mutation_p.T1929A|MLL3_uc003wky.2_Missense_Mutation_p.T377A	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2868					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)		TGCAAAGAAGTCTTTTCTCCA	0.408			N		medulloblastoma							
MLL3	58508	broad.mit.edu	37	7	151874713	151874713	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:151874713G>A	uc003wla.2	-	38	8044	c.7825C>T	c.(7825-7827)CGA>TGA	p.R2609*	MLL3_uc003wkz.2_Nonsense_Mutation_p.R1670*|MLL3_uc003wky.2_Nonsense_Mutation_p.R118*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2609	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.R2609*(1)		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)		GGAGGTCGTCGCATGGGGTCT	0.532			N		medulloblastoma							
HTR5A	3361	broad.mit.edu	37	7	154862764	154862764	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:154862764C>T	uc003wlu.1	+	1	219	c.155C>T	c.(154-156)GCG>GTG	p.A52V	uc011kvt.1_Missense_Mutation_p.A84T|uc003wlt.2_Missense_Mutation_p.A84T	NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	52	Helical; Name=1; (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TTTCTGGTGGCGGCGACGTTC	0.647												
PTPRN2	5799	broad.mit.edu	37	7	157369377	157369377	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:157369377G>A	uc003wno.2	-	19	2832	c.2711C>T	c.(2710-2712)ACG>ATG	p.T904M	PTPRN2_uc003wnp.2_Missense_Mutation_p.T887M|PTPRN2_uc003wnq.2_Missense_Mutation_p.T875M|PTPRN2_uc003wnr.2_Missense_Mutation_p.T866M|PTPRN2_uc011kwa.1_Missense_Mutation_p.T927M|uc011kwb.1_5'Flank|MIR153-2_hsa-mir-153-2|MI0000464_5'Flank	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	904	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GTGGAACTGCGTCACGGTGCG	0.607												
ARHGEF10	9639	broad.mit.edu	37	8	1842674	1842674	+	Missense_Mutation	SNP	C	C	T	rs144726787		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:1842674C>T	uc003wpr.2	+	13	1554	c.1376C>T	c.(1375-1377)GCG>GTG	p.A459V	ARHGEF10_uc003wpq.1_Missense_Mutation_p.A484V|ARHGEF10_uc003wps.2_Missense_Mutation_p.A421V|ARHGEF10_uc003wpt.2_Missense_Mutation_p.A335V|ARHGEF10_uc003wpv.2_Missense_Mutation_p.A192V|ARHGEF10_uc010lre.2_Missense_Mutation_p.A139V	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	484	DH.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TTTCAGATCGCGCTGGCCAGC	0.547												
RP1L1	94137	broad.mit.edu	37	8	10466430	10466430	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:10466430A>G	uc003wtc.2	-	4	5407	c.5178T>C	c.(5176-5178)GCT>GCC	p.A1726A		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1726					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		GCCCTCCCTCAGCTCCCTGGA	0.647												
RP1L1	94137	broad.mit.edu	37	8	10467747	10467747	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:10467747C>T	uc003wtc.2	-	4	4090	c.3861G>A	c.(3859-3861)TCG>TCA	p.S1287S		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1287					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		GCTCCAGGTTCGAGCTCGCCC	0.408												
EFHA2	286097	broad.mit.edu	37	8	16884826	16884826	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:16884826G>A	uc003wxd.2	+	1	80	c.38G>A	c.(37-39)CGG>CAG	p.R13Q		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	EF-hand domain family, member A2	13						integral to membrane	calcium ion binding			skin(1)	1				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		CCGCCACCCCGGGTGTCTCCT	0.657												
CNOT7	29883	broad.mit.edu	37	8	17100550	17100550	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:17100550A>G	uc003wxf.1	-	3	430	c.262T>C	c.(262-264)TAC>CAC	p.Y88H	CNOT7_uc003wxg.1_Missense_Mutation_p.Y88H|CNOT7_uc003wxh.1_Missense_Mutation_p.Y88H|CNOT7_uc003wxi.1_Missense_Mutation_p.Y88H	NM_013354	NP_037486	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	88					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)	1				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		CCTGGAGGGTATTCTCCTTGC	0.333												
MTMR7	9108	broad.mit.edu	37	8	17159727	17159727	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:17159727T>A	uc003wxm.2	-	13	1795	c.1556A>T	c.(1555-1557)GAT>GTT	p.D519V	MTMR7_uc003wxn.2_Missense_Mutation_p.D298V|MTMR7_uc011kya.1_Missense_Mutation_p.D153V|MTMR7_uc011kyb.1_Missense_Mutation_p.D110V	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	519							protein tyrosine phosphatase activity			skin(1)	1				Colorectal(111;0.112)		CATTAGGTAATCTGTAACTGA	0.448												
LZTS1	11178	broad.mit.edu	37	8	20110716	20110716	+	Silent	SNP	C	C	T	rs141673059		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:20110716C>T	uc003wzr.2	-	2	837	c.726G>A	c.(724-726)TCG>TCA	p.S242S	LZTS1_uc010ltg.1_Silent_p.S242S	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	242					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CTGCCTTGTTCGAGTGGCCCA	0.627												
DOK2	9046	broad.mit.edu	37	8	21767412	21767412	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:21767412A>C	uc003wzy.1	-	5	742	c.649T>G	c.(649-651)TGC>GGC	p.C217G	DOK2_uc003wzx.1_Missense_Mutation_p.C217G|DOK2_uc003wzz.1_Missense_Mutation_p.C63G|DOK2_uc010lth.1_Missense_Mutation_p.C63G	NM_003974	NP_003965	O60496	DOK2_HUMAN	docking protein 2	217	IRS-type PTB.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding				0				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		CCAGAGACGCAGCGACGGCCT	0.522												
HR	55806	broad.mit.edu	37	8	21978706	21978706	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:21978706G>A	uc003xas.2	-	10	2904	c.2239C>T	c.(2239-2241)CGT>TGT	p.R747C	HR_uc003xat.2_Missense_Mutation_p.R747C	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	747							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)		CGGCCAGCACGGTCCTCTGCT	0.627												
PHYHIP	9796	broad.mit.edu	37	8	22079025	22079025	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:22079025G>A	uc003xbk.3	-	6	1528	c.834C>T	c.(832-834)CAC>CAT	p.H278H	PHYHIP_uc003xbj.3_Silent_p.H278H	NM_001099335	NP_001092805	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	278											0				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		GGTCCTGGGCGTGGCGGAAGA	0.632												
POLR3D	661	broad.mit.edu	37	8	22105999	22105999	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:22105999C>T	uc003xbl.2	+	6	575	c.492C>T	c.(490-492)CTC>CTT	p.L164L	POLR3D_uc003xbm.2_Silent_p.L164L|POLR3D_uc011kze.1_RNA	NM_001722	NP_001713	P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	164					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity				0				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GGCAGTTCCTCGATGACCCCG	0.522												
POLR3D	661	broad.mit.edu	37	8	22106136	22106136	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:22106136T>C	uc003xbl.2	+	6	712	c.629T>C	c.(628-630)ATG>ACG	p.M210T	POLR3D_uc003xbm.2_Missense_Mutation_p.M210T|POLR3D_uc011kze.1_RNA	NM_001722	NP_001713	P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	210					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity				0				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GAAGAGGACATGGAGGTGGAC	0.527												
KIAA1967	57805	broad.mit.edu	37	8	22476350	22476350	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:22476350C>A	uc003xch.2	+	19	2480	c.2343C>A	c.(2341-2343)GAC>GAA	p.D781E	KIAA1967_uc003xci.2_Missense_Mutation_p.D781E|KIAA1967_uc003xcj.1_Missense_Mutation_p.D450E	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	781					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GAAACCTGGACCTGCTGCCCC	0.607												
ENTPD4	9583	broad.mit.edu	37	8	23294634	23294634	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:23294634C>T	uc003xdl.2	-	10	1351	c.1187G>A	c.(1186-1188)CGA>CAA	p.R396Q	ENTPD4_uc011kzu.1_Missense_Mutation_p.R388Q|ENTPD4_uc003xdm.2_Missense_Mutation_p.R388Q|ENTPD4_uc011kzv.1_Missense_Mutation_p.R396Q	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	396	Lumenal (Potential).				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			ovary(1)|kidney(1)	2		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GATAGTCTCTCGACACAGGTC	0.468												
ADAM7	8756	broad.mit.edu	37	8	24349501	24349501	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:24349501C>A	uc003xeb.2	+	14	1555	c.1442C>A	c.(1441-1443)CCT>CAT	p.P481H	ADAM7_uc003xec.2_Missense_Mutation_p.P253H	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	481	Disintegrin.|Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(1)|kidney(1)	5		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CCTGCCTGTCCTAAGGACCAG	0.473												
CHRNA2	1135	broad.mit.edu	37	8	27320543	27320543	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:27320543C>T	uc010lur.2	-	6	2026	c.1417G>A	c.(1417-1419)GTG>ATG	p.V473M	CHRNA2_uc011lal.1_Missense_Mutation_p.V458M|CHRNA2_uc010lus.2_Missense_Mutation_p.V275M	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha	473	Cytoplasmic.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(1)	1		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	ATGTAGTGCACACCTTCCAGT	0.642												
INTS9	55756	broad.mit.edu	37	8	28638343	28638343	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:28638343T>C	uc003xha.2	-	12	1566	c.1267A>G	c.(1267-1269)ACG>GCG	p.T423A	INTS9_uc011lav.1_Missense_Mutation_p.T399A|INTS9_uc011law.1_Missense_Mutation_p.T402A|INTS9_uc011lax.1_Missense_Mutation_p.T316A|INTS9_uc010lvc.2_RNA	NM_018250	NP_060720	Q9NV88	INT9_HUMAN	integrator complex subunit 9 isoform 1	423					snRNA processing	integrator complex	protein binding			central_nervous_system(1)|pancreas(1)	2		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CACTTACCCGTGAATATGACG	0.502												
HMBOX1	79618	broad.mit.edu	37	8	28906535	28906535	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:28906535T>C	uc003xhd.3	+	9	1437	c.1095T>C	c.(1093-1095)GAT>GAC	p.D365D	HMBOX1_uc010lvd.2_Silent_p.D365D|HMBOX1_uc003xhc.3_Silent_p.D364D|HMBOX1_uc010lve.2_RNA|HMBOX1_uc003xhe.2_Silent_p.D365D|HMBOX1_uc011lay.1_Silent_p.D364D|HMBOX1_uc003xhf.2_Silent_p.D351D|HMBOX1_uc003xhg.2_Silent_p.D352D	NM_001135726	NP_001129198	Q6NT76	HMBX1_HUMAN	homeobox containing 1	365					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		CAAACAGTGATGATGTCGACG	0.517												
DCTN6	10671	broad.mit.edu	37	8	30032612	30032612	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:30032612G>A	uc003xhy.2	+	3	187	c.100G>A	c.(100-102)GTG>ATG	p.V34M		NM_006571	NP_006562	O00399	DCTN6_HUMAN	dynactin 6	34						centrosome	transferase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)		ACCTCGGACAGTGATCCACCC	0.458												
WRN	7486	broad.mit.edu	37	8	30969166	30969166	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:30969166T>C	uc003xio.3	+	19	2912	c.2124T>C	c.(2122-2124)TCT>TCC	p.S708S	WRN_uc010lvk.2_Silent_p.S175S	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	708	Helicase ATP-binding.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTGCAAGTTCTTCAATCCGGG	0.388			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome			
WRN	7486	broad.mit.edu	37	8	30982058	30982058	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:30982058G>A	uc003xio.3	+	22	3439	c.2651G>A	c.(2650-2652)CGT>CAT	p.R884H	WRN_uc010lvk.2_Missense_Mutation_p.R351H	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	884	Helicase C-terminal.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ACTGAGATACGTAATGAGAAG	0.289			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome			
C8orf41	80185	broad.mit.edu	37	8	33369574	33369574	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:33369574A>G	uc003xjl.3	-	1	1083	c.558T>C	c.(556-558)GGT>GGC	p.G186G	C8orf41_uc003xjk.3_Silent_p.G186G|C8orf41_uc010lvv.2_Silent_p.G186G|C8orf41_uc003xjm.3_Silent_p.G186G|C8orf41_uc003xjn.1_Silent_p.G186G	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN	hypothetical protein LOC80185	186							binding				0				KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		CTGCCACAGAACCGCATTCAG	0.493												
UNC5D	137970	broad.mit.edu	37	8	35606112	35606112	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:35606112G>A	uc003xjr.1	+	12	2162	c.1834G>A	c.(1834-1836)GTC>ATC	p.V612I	UNC5D_uc003xjs.1_Missense_Mutation_p.V607I|UNC5D_uc003xju.1_Missense_Mutation_p.V188I	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	612	ZU5.|Cytoplasmic (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AGACATGATCGTCACCACTCC	0.493												
STAR	6770	broad.mit.edu	37	8	38006175	38006175	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:38006175C>T	uc003xkv.1	-	2	426	c.162G>A	c.(160-162)CGG>CGA	p.R54R	STAR_uc010lwc.1_Intron	NM_001007243	NP_001007244	P49675	STAR_HUMAN	steroidogenic acute regulatory protein isoform	54					C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			ovary(1)	1	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GAGAGCTCCGCCGCCGAACCT	0.647												
TACC1	6867	broad.mit.edu	37	8	38684796	38684796	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:38684796C>T	uc010lwp.2	+	5	1942	c.1563C>T	c.(1561-1563)GCC>GCT	p.A521A	TACC1_uc011lby.1_Silent_p.A326A|TACC1_uc003xma.2_5'UTR|TACC1_uc003xlz.2_Silent_p.A326A|TACC1_uc003xmc.3_Silent_p.A325A|TACC1_uc011lbz.1_Silent_p.A537A|TACC1_uc003xmb.3_Silent_p.A476A|TACC1_uc003xme.1_Silent_p.A95A|TACC1_uc003xmd.1_Silent_p.A83A|TACC1_uc010lwo.1_Silent_p.A83A|TACC1_uc003xmf.3_Silent_p.A111A|TACC1_uc011lca.1_Silent_p.A533A|TACC1_uc011lcb.1_Silent_p.A326A|TACC1_uc011lcc.1_Silent_p.A326A|TACC1_uc011lcd.1_RNA|TACC1_uc003xmh.3_Silent_p.A338A|TACC1_uc010lwq.2_Silent_p.A338A	NM_006283	NP_006274	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing	521					cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			ovary(1)	1		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CAGCTGGTGCCGAGGTGAAAG	0.468												
ANK1	286	broad.mit.edu	37	8	41572500	41572500	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:41572500G>A	uc003xok.2	-	15	1779	c.1695C>T	c.(1693-1695)GCC>GCT	p.A565A	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Silent_p.A565A|ANK1_uc003xoj.2_Silent_p.A565A|ANK1_uc003xol.2_Silent_p.A565A|ANK1_uc003xom.2_Silent_p.A598A	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	565	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCACTTTTCCGGCAGCATTCG	0.587												
ANK1	286	broad.mit.edu	37	8	41573238	41573238	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:41573238G>A	uc003xok.2	-	14	1618	c.1534C>T	c.(1534-1536)CGT>TGT	p.R512C	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.R512C|ANK1_uc003xoj.2_Missense_Mutation_p.R512C|ANK1_uc003xol.2_Missense_Mutation_p.R512C|ANK1_uc003xom.2_Missense_Mutation_p.R545C	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	512	ANK 15.|89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGCCCTCACGGGCTGCAATG	0.607												
MYST3	7994	broad.mit.edu	37	8	41834766	41834766	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:41834766C>A	uc010lxb.2	-	8	1667	c.1123G>T	c.(1123-1125)GCA>TCA	p.A375S	MYST3_uc010lxc.2_Missense_Mutation_p.A375S|MYST3_uc003xon.3_Missense_Mutation_p.A375S|MYST3_uc010lxd.2_Missense_Mutation_p.A375S	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	375	Poly-Ser.|Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			GATGATGATGCTGATTGGCTG	0.428												
IKBKB	3551	broad.mit.edu	37	8	42173805	42173805	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:42173805C>T	uc003xow.1	+	10	1055	c.878C>T	c.(877-879)ACG>ATG	p.T293M	IKBKB_uc003xov.2_Missense_Mutation_p.T293M|IKBKB_uc010lxh.1_Missense_Mutation_p.T188M|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Missense_Mutation_p.T70M|IKBKB_uc003xox.1_Missense_Mutation_p.T14M|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Missense_Mutation_p.T291M|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.T234M	NM_001556	NP_001547	O14920	IKKB_HUMAN	inhibitor of nuclear factor kappa B kinase beta	293	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(3)|ovary(2)|lung(1)|skin(1)	7	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	ACGGATCCCACGTATGGGCCC	0.572												
PRKDC	5591	broad.mit.edu	37	8	48746928	48746928	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:48746928C>T	uc003xqi.2	-	60	8038	c.7981G>A	c.(7981-7983)GGG>AGG	p.G2661R	PRKDC_uc003xqj.2_Missense_Mutation_p.G2661R|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2661	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GTGCTGCTCCCGGTCAGCCAA	0.562								NHEJ				
MCM4	4173	broad.mit.edu	37	8	48887453	48887453	+	Missense_Mutation	SNP	C	C	T	rs149597772		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:48887453C>T	uc003xqk.1	+	15	2391	c.2296C>T	c.(2296-2298)CGG>TGG	p.R766W	MCM4_uc003xql.1_Missense_Mutation_p.R766W|MCM4_uc011ldi.1_Missense_Mutation_p.R753W	NM_182746	NP_877423	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	766					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(2)|skin(2)	4		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				ACGCCTCCATCGGGAAGCTCT	0.453												
NPBWR1	2831	broad.mit.edu	37	8	53852656	53852656	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:53852656G>A	uc011ldu.1	+	1	189	c.189G>A	c.(187-189)CTG>CTA	p.L63L		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	63	Cytoplasmic (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)				ACGTGTTGCTGCGGGCGCCCC	0.667												
OPRK1	4986	broad.mit.edu	37	8	54141891	54141891	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:54141891A>G	uc003xrh.1	-	3	1484	c.1109T>C	c.(1108-1110)CTG>CCG	p.L370P	OPRK1_uc003xri.1_Missense_Mutation_p.L370P|OPRK1_uc010lyc.1_Missense_Mutation_p.L281P	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	370	Cytoplasmic (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	GATGTCCCTCAGGTAAGCAGG	0.478												
MOS	4342	broad.mit.edu	37	8	57025820	57025820	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:57025820C>T	uc011leb.1	-	1	722	c.722G>A	c.(721-723)GGC>GAC	p.G241D		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	241	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4			Epithelial(17;0.00117)|all cancers(17;0.00879)			GGTGTATGTGCCTCCTAGAGG	0.517												
CHD7	55636	broad.mit.edu	37	8	61654351	61654351	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:61654351C>T	uc003xue.2	+	2	837	c.360C>T	c.(358-360)GGC>GGT	p.G120G		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	120					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)			GCAGTGGTGGCGGTCAGATGG	0.607												
RRS1	23212	broad.mit.edu	37	8	67342063	67342063	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:67342063G>T	uc003xwa.2	+	1	801	c.697G>T	c.(697-699)GGG>TGG	p.G233W	ADHFE1_uc003xwb.3_5'Flank|ADHFE1_uc003xwd.3_5'Flank|ADHFE1_uc003xwc.3_5'Flank|ADHFE1_uc003xwe.3_5'Flank|ADHFE1_uc003xwf.3_5'Flank|ADHFE1_uc011les.1_5'Flank|ADHFE1_uc011leq.1_5'Flank|ADHFE1_uc011ler.1_5'Flank	NM_015169	NP_055984	Q15050	RRS1_HUMAN	homolog of yeast ribosome biogenesis regulatory	233					mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus					0		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CGCCTCTGTGGGGCGCTTTCA	0.642												
ARFGEF1	10565	broad.mit.edu	37	8	68140265	68140265	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:68140265T>C	uc003xxo.1	-	25	3914	c.3524A>G	c.(3523-3525)TAC>TGC	p.Y1175C	ARFGEF1_uc003xxl.1_Missense_Mutation_p.Y629C|ARFGEF1_uc003xxn.1_Missense_Mutation_p.Y158C	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1175					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCCCATGTTGTAATATGATAT	0.333												
PREX2	80243	broad.mit.edu	37	8	69033268	69033268	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:69033268C>T	uc003xxv.1	+	30	3735	c.3708C>T	c.(3706-3708)ATC>ATT	p.I1236I		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1236					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						CTCAGAACATCAGGAAATTTG	0.398												
TERF1	7013	broad.mit.edu	37	8	73934527	73934527	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:73934527A>C	uc003xzd.2	+	4	639	c.614A>C	c.(613-615)AAT>ACT	p.N205T	TERF1_uc003xze.2_Missense_Mutation_p.N205T	NM_017489	NP_059523	P54274	TERF1_HUMAN	telomeric repeat binding factor 1 isoform 1	205	TRFH dimerization.				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			ovary(1)|lung(1)|skin(1)	3	Breast(64;0.218)		Epithelial(68;0.0984)			GGTGATCCAAATTCTCATATG	0.299												
ZFHX4	79776	broad.mit.edu	37	8	77764144	77764144	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:77764144A>G	uc003yav.2	+	10	5239	c.4852A>G	c.(4852-4854)ACC>GCC	p.T1618A	ZFHX4_uc003yau.1_Missense_Mutation_p.T1663A|ZFHX4_uc003yaw.1_Missense_Mutation_p.T1618A	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1618						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGCAAAGATACCCATTTAGA	0.448										HNSCC(33;0.089)		
CNGB3	54714	broad.mit.edu	37	8	87683188	87683188	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:87683188T>G	uc003ydx.2	-	4	523	c.477A>C	c.(475-477)GAA>GAC	p.E159D	CNGB3_uc010maj.2_Missense_Mutation_p.E21D	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	159	Cytoplasmic (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						GTGGGCTGGCTTCGGGTGAGG	0.453												
CNBD1	168975	broad.mit.edu	37	8	87951895	87951895	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:87951895T>G	uc003ydy.2	+	4	392	c.344T>G	c.(343-345)GTT>GGT	p.V115G		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	115										ovary(3)	3						GCTGTCCATGTTCAGAGAGCA	0.333												
RBM12B	389677	broad.mit.edu	37	8	94746270	94746270	+	Missense_Mutation	SNP	G	G	A	rs17853904		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:94746270G>A	uc003yfz.2	-	3	2562	c.2369C>T	c.(2368-2370)CCG>CTG	p.P790L		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	790							nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CTCCTGAGGCGGCCGCCTGAA	0.647												
RAD54B	25788	broad.mit.edu	37	8	95419749	95419749	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:95419749T>G	uc003ygk.2	-	5	797	c.699A>C	c.(697-699)AAA>AAC	p.K233N	RAD54B_uc010may.1_Missense_Mutation_p.K40N|RAD54B_uc003ygl.1_RNA	NM_012415	NP_036547	O95073	FSBP_HUMAN	RAD54 homolog B	Error:Variant_position_missing_in_O95073_after_alignment					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			kidney(2)|lung(1)|skin(1)	4	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TACAAACACTTTTGAAAGGGT	0.393								Direct_reversal_of_damage|Homologous_recombination				
OSR2	116039	broad.mit.edu	37	8	99961546	99961546	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:99961546G>A	uc003yir.2	+	2	901	c.366G>A	c.(364-366)GCG>GCA	p.A122A	OSR2_uc010mbn.2_Silent_p.A122A|OSR2_uc003yiq.2_Silent_p.A122A|OSR2_uc011lgx.1_Silent_p.A243A	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	odd-skipped related 2 isoform a	122					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			central_nervous_system(1)	1	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			CCAATTTGGCGGTGGCTGCCA	0.607												
VPS13B	157680	broad.mit.edu	37	8	100115270	100115270	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:100115270G>A	uc003yiv.2	+	5	613	c.502G>A	c.(502-504)GTC>ATC	p.V168I	VPS13B_uc003yiw.2_Missense_Mutation_p.V168I|VPS13B_uc003yit.2_Missense_Mutation_p.V168I|VPS13B_uc003yiu.1_Missense_Mutation_p.V168I|VPS13B_uc003yis.2_Missense_Mutation_p.V168I|VPS13B_uc011lgy.1_Missense_Mutation_p.V44I	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	168					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)			AGATGATATCGTCCTTTCCGT	0.328												
VPS13B	157680	broad.mit.edu	37	8	100523354	100523354	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:100523354G>A	uc003yiv.2	+	29	4433	c.4322G>A	c.(4321-4323)GGC>GAC	p.G1441D	VPS13B_uc003yiw.2_Missense_Mutation_p.G1416D|VPS13B_uc003yix.1_Missense_Mutation_p.G911D	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	1441					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)			CTTCTAGATGGCACTCATCAG	0.338												
OXR1	55074	broad.mit.edu	37	8	107719362	107719362	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:107719362G>A	uc011lht.1	+	8	1715	c.1616G>A	c.(1615-1617)GGA>GAA	p.G539E	OXR1_uc003ymf.2_Missense_Mutation_p.G538E|OXR1_uc011lhu.1_Missense_Mutation_p.G531E|OXR1_uc010mcg.2_Intron|OXR1_uc010mch.2_Missense_Mutation_p.G236E|OXR1_uc003ymg.1_Missense_Mutation_p.G471E|OXR1_uc003ymi.1_Missense_Mutation_p.G450E	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	oxidation resistance 1 isoform 1	539					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion					0			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TCTGCTGATGGACACATAGAA	0.368												
PKHD1L1	93035	broad.mit.edu	37	8	110474074	110474074	+	Silent	SNP	C	C	T	rs149284269	by1000genomes	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:110474074C>T	uc003yne.2	+	48	7424	c.7320C>T	c.(7318-7320)TGC>TGT	p.C2440C		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2440	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.C2442C(1)		ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGGAGGCTGCGTTATGTTTC	0.403										HNSCC(38;0.096)		
HAS2	3037	broad.mit.edu	37	8	122627114	122627114	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:122627114A>C	uc003yph.2	-	4	1432	c.894T>G	c.(892-894)GAT>GAG	p.D298E		NM_005328	NP_005319	Q92819	HAS2_HUMAN	hyaluronan synthase 2	298	Cytoplasmic (Potential).					integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	soft_tissue(10)|ovary(5)	15	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GATTGTACCAATCTTCCACAA	0.448												
ZHX2	22882	broad.mit.edu	37	8	123965292	123965292	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:123965292G>A	uc003ypk.1	+	3	2109	c.1542G>A	c.(1540-1542)GCG>GCA	p.A514A		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	514						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			TGGCCATCGCGGCCTCCCGAC	0.537												
ANXA13	312	broad.mit.edu	37	8	124696861	124696861	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:124696861T>C	uc003yqu.2	-	10	893	c.820A>G	c.(820-822)ACC>GCC	p.T274A	ANXA13_uc003yqt.2_Missense_Mutation_p.T315A	NM_004306	NP_004297	P27216	ANX13_HUMAN	annexin A13 isoform a	274	Annexin 4.				cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			TCGGCCCTGGTCACGACTATG	0.502												
ASAP1	50807	broad.mit.edu	37	8	131124486	131124486	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:131124486G>A	uc003yta.1	-	23	2283	c.2255C>T	c.(2254-2256)GCA>GTA	p.A752V	ASAP1_uc003ysz.1_Missense_Mutation_p.A563V|ASAP1_uc011liw.1_Missense_Mutation_p.A745V	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	752					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4						TCCTGGCAGTGCCAGCTTGTC	0.552												
KCNQ3	3786	broad.mit.edu	37	8	133150155	133150155	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:133150155G>A	uc003ytj.2	-	12	1902	c.1677C>T	c.(1675-1677)TCC>TCT	p.S559S	KCNQ3_uc010mdt.2_Silent_p.S559S	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	559					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ACTTTATCCTGGAAAGCATGT	0.458												
KCNQ3	3786	broad.mit.edu	37	8	133192508	133192508	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:133192508A>G	uc003ytj.2	-	4	898	c.673T>C	c.(673-675)TCC>CCC	p.S225P	KCNQ3_uc010mdt.2_Missense_Mutation_p.S225P	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	225					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CTTCGCAGGGAGGTGGCCAGA	0.597												
PHF20L1	51105	broad.mit.edu	37	8	133836255	133836255	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:133836255C>T	uc003ytt.2	+	13	1911	c.1586C>T	c.(1585-1587)TCG>TTG	p.S529L	PHF20L1_uc003yts.2_Missense_Mutation_p.S529L|PHF20L1_uc011lja.1_Missense_Mutation_p.S503L|PHF20L1_uc003ytu.1_RNA	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	529							nucleic acid binding|zinc ion binding			ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ACAGGAATATCGAAAACAGAA	0.303												
TG	7038	broad.mit.edu	37	8	133883659	133883659	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:133883659C>G	uc003ytw.2	+	4	382	c.341C>G	c.(340-342)ACC>AGC	p.T114S		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	114	Thyroglobulin type-1 2.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCACAGACACCTCCTACCTC	0.517												
TG	7038	broad.mit.edu	37	8	133953742	133953742	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:133953742C>T	uc003ytw.2	+	26	5229	c.5188C>T	c.(5188-5190)CGT>TGT	p.R1730C	TG_uc010mdw.2_Missense_Mutation_p.R489C|TG_uc011ljb.1_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1730	Type IIIB.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGCATGCGACCGTGATCTGTG	0.517												
SLA	6503	broad.mit.edu	37	8	134050798	134050798	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:134050798A>C	uc003ytz.2	-	9	1634	c.802T>G	c.(802-804)TTC>GTC	p.F268V	TG_uc003ytw.2_Intron|TG_uc010mdw.2_Intron|TG_uc011ljb.1_Intron|TG_uc011ljc.1_Intron|SLA_uc011lje.1_Missense_Mutation_p.F285V|SLA_uc011ljf.1_Missense_Mutation_p.F160V|SLA_uc011ljg.1_Missense_Mutation_p.F241V|SLA_uc011ljd.1_Missense_Mutation_p.F308V	NM_001045556	NP_001039021	Q13239	SLAP1_HUMAN	Src-like-adaptor isoform a	268	SLA C-terminal.					endosome	SH3/SH2 adaptor activity			lung(1)|liver(1)	2	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			GGTGATGAGAAGAATGAGCTC	0.463												
ZFAT	57623	broad.mit.edu	37	8	135614834	135614834	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:135614834C>T	uc003yup.2	-	6	1303	c.1128G>A	c.(1126-1128)GCG>GCA	p.A376A	ZFAT_uc003yun.2_Silent_p.A364A|ZFAT_uc003yuo.2_Silent_p.A364A|ZFAT_uc010meh.2_Silent_p.A364A|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Silent_p.A364A|ZFAT_uc010mej.2_Silent_p.A314A|ZFAT_uc003yur.2_Silent_p.A364A	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	376	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTGGGTCATGCGCGTCTCGGA	0.552												
COL22A1	169044	broad.mit.edu	37	8	139833603	139833603	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:139833603C>T	uc003yvd.2	-	7	1468	c.1021G>A	c.(1021-1023)GGT>AGT	p.G341S		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	341	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTCATGGCACCCACAGCGTTG	0.577										HNSCC(7;0.00092)		
TSNARE1	203062	broad.mit.edu	37	8	143381988	143381988	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:143381988A>G	uc003ywk.2	-	10	1267	c.1149T>C	c.(1147-1149)TTT>TTC	p.F383F	TSNARE1_uc011lju.1_Silent_p.F382F|TSNARE1_uc003ywj.2_Silent_p.F384F|TSNARE1_uc003ywl.3_Silent_p.F164F	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	383					vesicle-mediated transport	integral to membrane					0	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCAGCTCGGCAAACGGGGCCT	0.562												
TSNARE1	203062	broad.mit.edu	37	8	143425535	143425535	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:143425535G>A	uc003ywk.2	-	4	655	c.537C>T	c.(535-537)CGC>CGT	p.R179R	TSNARE1_uc011lju.1_Silent_p.R179R|TSNARE1_uc003ywj.2_Silent_p.R179R|TSNARE1_uc003ywl.3_Intron	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	179					vesicle-mediated transport	integral to membrane					0	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCACAACGTCGCGGCGACAGT	0.687												
ARC	23237	broad.mit.edu	37	8	143694607	143694607	+	Silent	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:143694607G>T	uc003ywn.1	-	1	1227	c.1026C>A	c.(1024-1026)CCC>CCA	p.P342P		NM_015193	NP_056008	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated	342					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)	1	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				CCAGGGTCTTGGGCAGGGGGT	0.677												
EPPK1	83481	broad.mit.edu	37	8	144940356	144940356	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:144940356G>A	uc003zaa.1	-	2	15089	c.15076C>T	c.(15076-15078)CGC>TGC	p.R5026C		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	5026	Plectin 64.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACGGGCACGCGGTGGCTGTGC	0.697												
PLEC	5339	broad.mit.edu	37	8	144991545	144991545	+	Silent	SNP	C	C	A	rs143548638	by1000genomes	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:144991545C>A	uc003zaf.1	-	32	13025	c.12855G>T	c.(12853-12855)ACG>ACT	p.T4285T	PLEC_uc003zab.1_Silent_p.T4148T|PLEC_uc003zac.1_Silent_p.T4152T|PLEC_uc003zad.2_Silent_p.T4148T|PLEC_uc003zae.1_Silent_p.T4116T|PLEC_uc003zag.1_Silent_p.T4126T|PLEC_uc003zah.2_Silent_p.T4134T|PLEC_uc003zaj.2_Silent_p.T4175T	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4285	Binding to intermediate filaments (By similarity).|Globular 2.|Plectin 27.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TCTCCTTGCCCGTCTCGGGGT	0.622												
PLEC	5339	broad.mit.edu	37	8	144993391	144993391	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:144993391T>C	uc003zaf.1	-	32	11179	c.11009A>G	c.(11008-11010)GAC>GGC	p.D3670G	PLEC_uc003zab.1_Missense_Mutation_p.D3533G|PLEC_uc003zac.1_Missense_Mutation_p.D3537G|PLEC_uc003zad.2_Missense_Mutation_p.D3533G|PLEC_uc003zae.1_Missense_Mutation_p.D3501G|PLEC_uc003zag.1_Missense_Mutation_p.D3511G|PLEC_uc003zah.2_Missense_Mutation_p.D3519G|PLEC_uc003zaj.2_Missense_Mutation_p.D3560G	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3670	Globular 2.|Plectin 16.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CGTCTCGGGGTCCTCCACGCA	0.637												
PLEC	5339	broad.mit.edu	37	8	144995498	144995498	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:144995498G>A	uc003zaf.1	-	32	9072	c.8902C>T	c.(8902-8904)CGG>TGG	p.R2968W	PLEC_uc003zab.1_Missense_Mutation_p.R2831W|PLEC_uc003zac.1_Missense_Mutation_p.R2835W|PLEC_uc003zad.2_Missense_Mutation_p.R2831W|PLEC_uc003zae.1_Missense_Mutation_p.R2799W|PLEC_uc003zag.1_Missense_Mutation_p.R2809W|PLEC_uc003zah.2_Missense_Mutation_p.R2817W|PLEC_uc003zaj.2_Missense_Mutation_p.R2858W	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2968	Plectin 4.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TAGCCGCGCCGGTAGGCCACG	0.682												
PLEC	5339	broad.mit.edu	37	8	144995508	144995508	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:144995508G>A	uc003zaf.1	-	32	9062	c.8892C>T	c.(8890-8892)GAC>GAT	p.D2964D	PLEC_uc003zab.1_Silent_p.D2827D|PLEC_uc003zac.1_Silent_p.D2831D|PLEC_uc003zad.2_Silent_p.D2827D|PLEC_uc003zae.1_Silent_p.D2795D|PLEC_uc003zag.1_Silent_p.D2805D|PLEC_uc003zah.2_Silent_p.D2813D|PLEC_uc003zaj.2_Silent_p.D2854D	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2964	Plectin 4.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GGTAGGCCACGTCCACGGGCA	0.687												
OPLAH	26873	broad.mit.edu	37	8	145108223	145108223	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:145108223C>T	uc003zar.3	-	20	2842	c.2760G>A	c.(2758-2760)CTG>CTA	p.L920L	OPLAH_uc003zas.1_Missense_Mutation_p.V195I	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	920							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GGAGGTCCGACAGGTTGTCGT	0.652												
CPSF1	29894	broad.mit.edu	37	8	145626419	145626419	+	Silent	SNP	G	G	A	rs150293361		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:145626419G>A	uc003zcj.2	-	6	513	c.438C>T	c.(436-438)GAC>GAT	p.D146D	CPSF1_uc003zck.1_Silent_p.D68D|CPSF1_uc011lle.1_Silent_p.D146D|MIR1234_hsa-mir-1234|MI0006324_5'Flank|CPSF1_uc011llf.1_Silent_p.D146D	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	146					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CACAGCGCCCGTCGGGGTCCA	0.692												
FOXD4	2298	broad.mit.edu	37	9	116842	116842	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:116842C>T	uc003zfz.2	-	1	1576	c.1278G>A	c.(1276-1278)TCG>TCA	p.S426S		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	forkhead box D4	426					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TGGGCGTGGGCGATACTAAAA	0.677												
DMRT2	10655	broad.mit.edu	37	9	1056535	1056535	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:1056535T>C	uc003zha.2	+	4	1148	c.948T>C	c.(946-948)TCT>TCC	p.S316S	DMRT2_uc003zgx.3_Silent_p.S83S|DMRT2_uc010mgz.2_Silent_p.S83S|DMRT2_uc003zgy.3_Silent_p.S160S|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Silent_p.S316S	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor	316					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		ATTCAGGGTCTGGGAATATGG	0.463												
SMARCA2	6595	broad.mit.edu	37	9	2186173	2186173	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:2186173G>T	uc003zhc.2	+	32	4638	c.4539G>T	c.(4537-4539)GAG>GAT	p.E1513D	SMARCA2_uc003zhd.2_Missense_Mutation_p.E1495D|SMARCA2_uc010mha.2_Missense_Mutation_p.E1428D|SMARCA2_uc011llw.1_Missense_Mutation_p.E199D|SMARCA2_uc003zhf.2_Missense_Mutation_p.E177D|SMARCA2_uc011llx.1_Missense_Mutation_p.E159D|SMARCA2_uc003zhe.2_Missense_Mutation_p.E201D|SMARCA2_uc003zhg.2_Missense_Mutation_p.E159D|SMARCA2_uc010mhb.2_Missense_Mutation_p.E183D	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1513					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)		aagagagtgaggatgaaagca	0.358												
RFX3	5991	broad.mit.edu	37	9	3248157	3248157	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:3248157G>A	uc003zhr.2	-	16	2155	c.1843C>T	c.(1843-1845)CGC>TGC	p.R615C	RFX3_uc010mhd.2_Missense_Mutation_p.R615C|RFX3_uc003zhs.1_Missense_Mutation_p.R615C	NM_134428	NP_602304	P48380	RFX3_HUMAN	regulatory factor X3 isoform b	615					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GCAGCACTGCGTAAGGTTAAG	0.418												
GLIS3	169792	broad.mit.edu	37	9	4117861	4117861	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:4117861G>A	uc003zhw.1	-	3	1346	c.1152C>T	c.(1150-1152)GCC>GCT	p.A384A	GLIS3_uc003zhx.1_Silent_p.A539A|GLIS3_uc003zic.1_Silent_p.A539A|GLIS3_uc003zie.1_Silent_p.A539A|GLIS3_uc010mhh.1_Silent_p.A414A|GLIS3_uc003zid.1_Silent_p.A317A|GLIS3_uc010mhi.1_Silent_p.A346A|GLIS3_uc003zif.1_Silent_p.A317A|GLIS3_uc003zig.1_Silent_p.A383A|GLIS3_uc003zih.1_Silent_p.A317A|GLIS3_uc003zhy.1_Silent_p.A317A|GLIS3_uc003zhz.1_Silent_p.A317A|GLIS3_uc003zib.1_Silent_p.A383A|GLIS3_uc010mhg.1_Silent_p.A317A	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	384	C2H2-type 2; atypical.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GAGGGCAACCGGCCCAGAAGC	0.577												
AK3	50808	broad.mit.edu	37	9	4719173	4719173	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:4719173G>A	uc003ziq.1	-	3	546	c.406C>T	c.(406-408)CGA>TGA	p.R136*	AK3_uc003zip.1_RNA|AK3_uc011lma.1_Nonsense_Mutation_p.R96*|AK3_uc003zir.1_Nonsense_Mutation_p.R66*	NM_016282	NP_057366	Q9UIJ7	KAD3_HUMAN	adenylate kinase 3	136					blood coagulation	mitochondrial matrix	ATP binding|GTP binding|nucleoside triphosphate adenylate kinase activity			ovary(2)	2	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0302)		TTATAGACTCGGCCACTGGCG	0.473												
C9orf123	90871	broad.mit.edu	37	9	7798586	7798586	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:7798586T>C	uc003zki.2	-	2	284	c.240A>G	c.(238-240)CTA>CTG	p.L80L	C9orf123_uc003zkj.2_Missense_Mutation_p.Y109C			Q96GE9	CI123_HUMAN	Homo sapiens cDNA FLJ46908 fis, clone FEBRA2004867.	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						integral to membrane					0		all_cancers(3;0.0539)|Lung NSC(3;3.36e-05)|all_lung(3;0.000156)|all_epithelial(3;0.0356)		GBM - Glioblastoma multiforme(50;0.0561)		AACAACGCGGTAGGCCTTCCC	0.408												
FREM1	158326	broad.mit.edu	37	9	14859265	14859265	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:14859265G>T	uc003zlm.2	-	4	1137	c.547C>A	c.(547-549)CCA>ACA	p.P183T	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	183					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		CCATGGGCTGGCAGCCGAGTT	0.512												
CNTLN	54875	broad.mit.edu	37	9	17466781	17466781	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:17466781T>C	uc003zmz.2	+	23	3770	c.3744T>C	c.(3742-3744)TCT>TCC	p.S1248S	CNTLN_uc003zmy.2_Silent_p.S1249S|CNTLN_uc010mio.2_Silent_p.S928S	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	1249	Potential.					centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		CAGCAGCATCTAAGCAGCTTC	0.403												
FAM154A	158297	broad.mit.edu	37	9	18928992	18928992	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:18928992C>T	uc003zni.1	-	4	761	c.483G>A	c.(481-483)CAG>CAA	p.Q161Q	FAM154A_uc010mip.1_5'UTR	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	hypothetical protein LOC158297	161										pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.53e-16)		CTGATGCCGGCTGGTATTTGT	0.438												
DDX58	23586	broad.mit.edu	37	9	32492458	32492458	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:32492458G>A	uc003zra.2	-	4	660	c.502C>T	c.(502-504)CCC>TCC	p.P168S	DDX58_uc010mjj.2_Intron|DDX58_uc010mjk.1_Missense_Mutation_p.P123S|DDX58_uc011lnr.1_Intron|DDX58_uc010mji.2_Missense_Mutation_p.P97S	NM_014314	NP_055129	O95786	DDX58_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	168	CARD 2.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			ovary(2)|liver(1)|pancreas(1)	4			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		AAAGTTTTGGGCCAGTTTTCC	0.433												
TAF1L	138474	broad.mit.edu	37	9	32632915	32632915	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:32632915C>T	uc003zrg.1	-	1	2753	c.2663G>A	c.(2662-2664)CGT>CAT	p.R888H	uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	888					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CGTTGGTAAACGAAAATCAGA	0.483												
APTX	54840	broad.mit.edu	37	9	32984853	32984853	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:32984853A>G	uc003zrm.2	-	5	743	c.546T>C	c.(544-546)GTT>GTC	p.V182V	APTX_uc010mjm.2_RNA|APTX_uc003zrj.2_Silent_p.V94V|APTX_uc011lns.1_Silent_p.V3V|APTX_uc003zrl.2_Silent_p.V8V|APTX_uc003zrn.2_Silent_p.V94V|APTX_uc003zro.2_Silent_p.V182V|APTX_uc003zrp.2_Silent_p.V94V|APTX_uc003zrq.2_Silent_p.V94V|APTX_uc003zrr.2_Silent_p.V128V|APTX_uc003zrs.2_Silent_p.V182V|APTX_uc003zrt.2_Silent_p.V94V|APTX_uc003zru.2_Silent_p.V128V|APTX_uc003zrv.2_Silent_p.V196V|APTX_uc003zrw.2_Silent_p.V110V|APTX_uc003zrx.2_Silent_p.V182V|APTX_uc003zry.2_Silent_p.V182V|APTX_uc003zrz.2_Silent_p.V3V|APTX_uc003zsa.1_Silent_p.V128V|APTX_uc003zsb.1_RNA|APTX_uc003zsc.1_RNA	NM_175072	NP_778242	Q7Z2E3	APTX_HUMAN	aprataxin isoform c	196	HIT.				cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		CATCTTTGTAAACCTAGCAGA	0.308								Direct_reversal_of_damage|Editing_and_processing_nucleases				
CHMP5	51510	broad.mit.edu	37	9	33265075	33265075	+	Translation_Start_Site	SNP	A	A	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:33265075A>T	uc003zsl.3	+	2	354	c.-1A>T	c.(-3-1)CAAGA>CATGA		SUGT1P1_uc010mjq.1_Intron|BAG1_uc003zsi.2_5'Flank|BAG1_uc003zsj.2_5'Flank|BAG1_uc003zsk.2_5'Flank|CHMP5_uc003zsm.3_Translation_Start_Site|CHMP5_uc011lnv.1_Translation_Start_Site	NM_016410	NP_057494	Q9NZZ3	CHMP5_HUMAN	chromatin modifying protein 5						cellular membrane organization|protein transport	cytosol|endosome membrane	protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)			CGGCTGCTCAAGATGAACCGA	0.572												
NFX1	4799	broad.mit.edu	37	9	33294870	33294870	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:33294870G>A	uc003zsq.2	+	2	539	c.478G>A	c.(478-480)GGT>AGT	p.G160S	SUGT1P1_uc010mjq.1_Intron|NFX1_uc011lnw.1_Missense_Mutation_p.G160S|NFX1_uc003zso.2_Missense_Mutation_p.G160S|NFX1_uc003zsp.1_Missense_Mutation_p.G160S|NFX1_uc010mjr.1_Missense_Mutation_p.G160S|NFX1_uc003zsr.2_Missense_Mutation_p.G160S	NM_002504	NP_002495	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	160					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GGAAGTTGTGGGTGCAGATCC	0.483												
NOL6	65083	broad.mit.edu	37	9	33466695	33466695	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:33466695C>A	uc003zsz.2	-	16	2064	c.1963G>T	c.(1963-1965)GGT>TGT	p.G655C	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Missense_Mutation_p.G652C|NOL6_uc011lob.1_Missense_Mutation_p.G603C|NOL6_uc003ztb.1_Missense_Mutation_p.G655C	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	655					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)		GCCTCCTCACCTGTGCTGGAG	0.632											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NOL6	65083	broad.mit.edu	37	9	33469527	33469527	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:33469527G>A	uc003zsz.2	-	5	798	c.697C>T	c.(697-699)CTG>TTG	p.L233L	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zta.2_Silent_p.L233L|NOL6_uc010mjv.2_Silent_p.L233L|NOL6_uc011lob.1_Silent_p.L173L|NOL6_uc003ztb.1_Silent_p.L233L	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	233					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)		GAGGGTTTCAGGTGGCAGCCA	0.597												
PRSS3	5646	broad.mit.edu	37	9	33797977	33797977	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:33797977C>T	uc003ztj.3	+	3	522	c.522C>T	c.(520-522)GCC>GCT	p.A174A	uc003ztk.1_Intron|PRSS3_uc003zti.3_Silent_p.A131A|PRSS3_uc003ztl.3_Silent_p.A117A	NM_007343	NP_031369	P35030	TRY3_HUMAN	mesotrypsin isoform 1 preproprotein	174	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity				0			LUSC - Lung squamous cell carcinoma(29;0.0176)			CCTCACCTGCCGTCATCAATG	0.557												
KIF24	347240	broad.mit.edu	37	9	34256530	34256530	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:34256530G>A	uc003zua.3	-	11	3195	c.3075C>T	c.(3073-3075)AAC>AAT	p.N1025N	KIF24_uc010mkb.2_Intron	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1025					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0107)			CAGCATGACCGTTTTTCACAG	0.552												
KIF24	347240	broad.mit.edu	37	9	34286630	34286630	+	Silent	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:34286630C>A	uc003zua.3	-	6	1320	c.1200G>T	c.(1198-1200)GTG>GTT	p.V400V	KIF24_uc010mkb.2_Silent_p.V431V	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	kinesin family member 24	400	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0107)			AGAGGAGCTCCACACTGTCCA	0.438												
KIAA1161	57462	broad.mit.edu	37	9	34372050	34372050	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:34372050G>A	uc003zue.3	-	3	1059	c.892C>T	c.(892-894)CGT>TGT	p.R298C		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	298	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		AAGTAGCGACGCACCATGTAC	0.662												
UNC13B	10497	broad.mit.edu	37	9	35377503	35377503	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:35377503C>T	uc003zwq.2	+	15	1919	c.1627C>T	c.(1627-1629)CGG>TGG	p.R543W	UNC13B_uc003zwr.2_Missense_Mutation_p.R543W	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	543					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AGCTGAGGACCGGACCCAGAA	0.517												
CA9	768	broad.mit.edu	37	9	35680810	35680810	+	Missense_Mutation	SNP	T	T	C	rs151268469		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:35680810T>C	uc003zxo.3	+	10	1340	c.1298T>C	c.(1297-1299)GTG>GCG	p.V433A	CA9_uc003zxp.3_Missense_Mutation_p.V424A	NM_001216	NP_001207	Q16790	CAH9_HUMAN	carbonic anhydrase IX precursor	433	Helical; (Potential).				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			ovary(4)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCGTTCCTTGTGCAGATGAGA	0.532												
CREB3	10488	broad.mit.edu	37	9	35736119	35736119	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:35736119C>G	uc003zxv.2	+	7	1139	c.686C>G	c.(685-687)ACC>AGC	p.T229S	CREB3_uc010mla.2_Missense_Mutation_p.T148S	NM_006368	NP_006359	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	253	Cytoplasmic (Potential).				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|integral to membrane|nucleus|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity				0	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		AGCAGCAGCACCTGCATCTTG	0.502											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NPR2	4882	broad.mit.edu	37	9	35793058	35793058	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:35793058G>A	uc003zyd.2	+	1	653	c.653G>A	c.(652-654)CGG>CAG	p.R218Q	NPR2_uc010mlb.2_Missense_Mutation_p.R218Q	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	218	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)	CACTTCATCCGGGCCAACGGG	0.632												
RECK	8434	broad.mit.edu	37	9	36117105	36117105	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:36117105C>T	uc003zyv.2	+	17	2270	c.2184C>T	c.(2182-2184)CAC>CAT	p.H728H	RECK_uc003zyw.2_Silent_p.H600H|RECK_uc003zyx.2_RNA	NM_021111	NP_066934	O95980	RECK_HUMAN	RECK protein precursor	728	Kazal-like 2.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)	3			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			ACACAGACCACATGGAGCACA	0.463												
CCIN	881	broad.mit.edu	37	9	36170316	36170316	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:36170316C>T	uc003zzb.3	+	1	928	c.817C>T	c.(817-819)CGG>TGG	p.R273W		NM_005893	NP_005884	Q13939	CALI_HUMAN	calicin	273					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			ovary(1)|skin(1)	2			STAD - Stomach adenocarcinoma(86;0.228)			GGTCTACCAGCGGAAAGGGGC	0.572												
MELK	9833	broad.mit.edu	37	9	36657353	36657353	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:36657353C>T	uc003zzn.2	+	13	1307	c.1169C>T	c.(1168-1170)ACA>ATA	p.T390I	MELK_uc011lpm.1_Missense_Mutation_p.T259I|MELK_uc011lpn.1_Intron|MELK_uc011lpo.1_Missense_Mutation_p.T196I|MELK_uc010mll.2_Missense_Mutation_p.T358I|MELK_uc011lpp.1_Missense_Mutation_p.T342I|MELK_uc010mlm.2_Missense_Mutation_p.T319I|MELK_uc011lpq.1_Missense_Mutation_p.T196I|MELK_uc011lpr.1_Missense_Mutation_p.T319I|MELK_uc011lps.1_Missense_Mutation_p.T310I	NM_014791	NP_055606	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	390						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			ACTCCCCGAACATCACAGGTT	0.373												
PGM5	5239	broad.mit.edu	37	9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						ACAGAATGGCATCTTGTCGAC	0.478												
APBA1	320	broad.mit.edu	37	9	72131597	72131597	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:72131597C>T	uc004ahh.2	-	2	806	c.530G>A	c.(529-531)CGC>CAC	p.R177H		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	177					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						GTCCTCACCGCGGTGGAAGAG	0.667												
C9orf85	138241	broad.mit.edu	37	9	74526630	74526630	+	Translation_Start_Site	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:74526630G>T	uc004ain.2	+	1	208	c.-20G>T	c.(-22--18)GAGGG>GATGG		C9orf85_uc004aio.2_RNA|C9orf85_uc010mou.2_RNA|C9orf85_uc010mov.2_RNA|FAM108B1_uc004ail.2_5'Flank|FAM108B1_uc004aim.1_5'Flank	NM_182505	NP_872311	Q96MD7	CI085_HUMAN	hypothetical protein LOC138241												0						CTCCCGGCGAGGGGTGGCTTT	0.507												
FOXB2	442425	broad.mit.edu	37	9	79635083	79635083	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:79635083G>A	uc004ako.1	+	1	513	c.513G>A	c.(511-513)CCG>CCA	p.P171P		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	forkhead box B2	171	Poly-Pro.				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						cgccgcccccgccgccgccgc	0.318												
TLE4	7091	broad.mit.edu	37	9	82333808	82333808	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:82333808G>A	uc004ald.2	+	16	2436	c.1587G>A	c.(1585-1587)ACG>ACA	p.T529T	TLE4_uc004alc.2_Silent_p.T504T|TLE4_uc010mpr.2_Silent_p.T383T|TLE4_uc004ale.2_Silent_p.T141T|TLE4_uc011lsq.1_Silent_p.T472T|TLE4_uc010mps.2_Silent_p.T428T|TLE4_uc004alf.2_Silent_p.T443T	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5						ACGTGTACACGGGTGGGAAGG	0.597												
TLE1	7088	broad.mit.edu	37	9	84226773	84226773	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:84226773C>T	uc004aly.2	-	13	1606	c.1165G>A	c.(1165-1167)GCT>ACT	p.A389T	TLE1_uc004alz.2_Missense_Mutation_p.A399T|TLE1_uc011lsr.1_Missense_Mutation_p.A374T|TLE1_uc004ama.1_Missense_Mutation_p.A388T|TLE1_uc011lss.1_Missense_Mutation_p.A315T	NM_005077	NP_005068	Q04724	TLE1_HUMAN	transducin-like enhancer protein 1	389	Pro/Ser-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			ovary(1)|skin(1)	2						GCGTAGGCAGCGCCTGGGCTG	0.687												
FLJ46321	389763	broad.mit.edu	37	9	84603827	84603827	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:84603827T>G	uc004amn.2	+	1	141	c.94T>G	c.(94-96)TTG>GTG	p.L32V		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	32	Helical; (Potential).					integral to membrane					0						CTTCATCTGCTTGAGTGGGTT	0.443												
SLC28A3	64078	broad.mit.edu	37	9	86900448	86900448	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:86900448A>C	uc010mpz.2	-	14	1584	c.1459T>G	c.(1459-1461)TCC>GCC	p.S487A	SLC28A3_uc011lsy.1_Missense_Mutation_p.S418A|SLC28A3_uc004anu.1_Missense_Mutation_p.S487A	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN	concentrative Na+-nucleoside cotransporter	487	Helical; (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						AAGATGTAGGAGCAGATTAGC	0.423												
DAPK1	1612	broad.mit.edu	37	9	90220046	90220046	+	Silent	SNP	C	C	T	rs36207429		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:90220046C>T	uc004apc.2	+	3	378	c.240C>T	c.(238-240)CAC>CAT	p.H80H	DAPK1_uc004ape.2_Silent_p.H80H|DAPK1_uc004apd.2_Silent_p.H80H|DAPK1_uc011ltg.1_Silent_p.H80H|DAPK1_uc011lth.1_Translation_Start_Site	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	80	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						TCACCCTGCACGAGGTCTATG	0.622									Chronic_Lymphocytic_Leukemia_Familial_Clustering_of			
C9orf102	375748	broad.mit.edu	37	9	98684626	98684626	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:98684626A>G	uc004avt.3	+	8	1760	c.1372A>G	c.(1372-1374)AGT>GGT	p.S458G	C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Missense_Mutation_p.S160G|C9orf102_uc010mry.1_Missense_Mutation_p.S160G|C9orf102_uc010mrz.2_Missense_Mutation_p.S269G|C9orf102_uc004avu.2_5'UTR	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	458					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)				CTTGTATCTCAGTTACCTTAC	0.393												
FAM22G	441457	broad.mit.edu	37	9	99694495	99694495	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:99694495G>A	uc004awq.1	+	2	1223	c.508G>A	c.(508-510)GTG>ATG	p.V170M		NM_001045477	NP_001038942	Q5VZR2	FA22G_HUMAN	hypothetical protein LOC441457	170										skin(1)	1		Acute lymphoblastic leukemia(62;0.0527)				GGCCCCCATCGTGTCCCCAGG	0.697												
FAM22G	441457	broad.mit.edu	37	9	99697671	99697671	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:99697671C>T	uc004awq.1	+	3	1490	c.775C>T	c.(775-777)CGG>TGG	p.R259W	HIATL2_uc004awr.1_Intron	NM_001045477	NP_001038942	Q5VZR2	FA22G_HUMAN	hypothetical protein LOC441457	259										skin(1)	1		Acute lymphoblastic leukemia(62;0.0527)				GGGACTGTGGCGGGCCATGCG	0.622												
NR4A3	8013	broad.mit.edu	37	9	102590657	102590657	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:102590657G>A	uc004baf.1	+	3	1062	c.333G>A	c.(331-333)CAG>CAA	p.Q111Q	NR4A3_uc004bae.2_Silent_p.Q111Q|NR4A3_uc004bag.1_Silent_p.Q111Q|NR4A3_uc004bai.2_Silent_p.Q122Q	NM_006981	NP_008912	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	111					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		EWSR1/NR4A3(140)|TAF15/NR4A3(33)	bone(173)	173		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				accaGCAGCAGCATCAGCAGC	0.498			T	EWSR1	extraskeletal myxoid chondrosarcoma							
OR13C5	138799	broad.mit.edu	37	9	107361654	107361654	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:107361654A>G	uc011lvp.1	-	1	41	c.41T>C	c.(40-42)CTG>CCG	p.L14P		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C,	14	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4						AAGTCCCTTCAGAAAAAATTC	0.383												
ZNF462	58499	broad.mit.edu	37	9	109689883	109689883	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:109689883G>A	uc004bcz.2	+	3	3979	c.3690G>A	c.(3688-3690)ACG>ACA	p.T1230T	ZNF462_uc010mto.2_Silent_p.T1078T|ZNF462_uc004bda.2_Silent_p.T1078T	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1230					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						GGCAGCATACGGCCACCATTC	0.532												
ZNF462	58499	broad.mit.edu	37	9	109691126	109691126	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:109691126T>C	uc004bcz.2	+	3	5222	c.4933T>C	c.(4933-4935)TCC>CCC	p.S1645P	ZNF462_uc010mto.2_Missense_Mutation_p.S1493P|ZNF462_uc004bda.2_Missense_Mutation_p.S1493P	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1645					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						GGAGCCCGTGTCCACTTCTCA	0.617												
EPB41L4B	54566	broad.mit.edu	37	9	112018740	112018740	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:112018740G>A	uc004bdz.1	-	8	1068	c.773C>T	c.(772-774)GCG>GTG	p.A258V	EPB41L4B_uc004bea.2_Missense_Mutation_p.A258V	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	258	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3						GGAGAGTTCCGCCTGGGCAGG	0.468												
PALM2-AKAP2	445815	broad.mit.edu	37	9	112900596	112900596	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:112900596A>G	uc004bei.2	+	9	3660	c.3468A>G	c.(3466-3468)ACA>ACG	p.T1156T	PALM2-AKAP2_uc004bek.3_Silent_p.T924T|PALM2-AKAP2_uc004bej.3_Silent_p.T924T|PALM2-AKAP2_uc004bel.1_Silent_p.T734T|AKAP2_uc011lwi.1_Silent_p.T782T|AKAP2_uc004bem.2_Silent_p.T782T|PALM2-AKAP2_uc010mtw.1_Silent_p.T742T|AKAP2_uc011lwj.1_Silent_p.T693T|PALM2-AKAP2_uc004ben.2_Silent_p.T693T	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	693							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6						TGAGAAGCACAGCCTCCCTCC	0.557												
HDHD3	81932	broad.mit.edu	37	9	116136221	116136221	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:116136221G>A	uc004bhi.1	-	2	1198	c.414C>T	c.(412-414)GAC>GAT	p.D138D	HDHD3_uc004bhj.2_Silent_p.D138D|HDHD3_uc004bhk.2_Silent_p.D138D	NM_031219	NP_112496	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain	138							phosphoglycolate phosphatase activity|protein binding				0						CTAGCCGTCGGTCAAAGTTGG	0.652												
TLR4	7099	broad.mit.edu	37	9	120475714	120475714	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:120475714A>G	uc004bjz.2	+	3	1599	c.1308A>G	c.(1306-1308)CAA>CAG	p.Q436Q	TLR4_uc004bka.2_Silent_p.Q396Q|TLR4_uc004bkb.2_Silent_p.Q236Q	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	436	LRR 13.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						ATTTGAAACAAATGAGTGAGT	0.373												
MEGF9	1955	broad.mit.edu	37	9	123421695	123421695	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:123421695A>G	uc004bkj.1	-	4	871	c.871T>C	c.(871-873)TGT>CGT	p.C291R	MEGF9_uc011lyb.1_Missense_Mutation_p.C246R|MEGF9_uc004bkk.3_Missense_Mutation_p.C246R	NM_001080497	NP_001073966	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	254	Laminin EGF-like 2.|Extracellular (Potential).					integral to membrane	calcium ion binding				0						CTACAGTCACATGGCTGACAG	0.473												
PHF19	26147	broad.mit.edu	37	9	123636883	123636883	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:123636883A>G	uc004bks.1	-	2	390	c.137T>C	c.(136-138)GTG>GCG	p.V46A	PHF19_uc004bkt.2_Missense_Mutation_p.V46A|PHF19_uc010mvk.2_Missense_Mutation_p.V46A	NM_015651	NP_056466	Q5T6S3	PHF19_HUMAN	PHD finger protein 19 isoform a	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|breast(1)	2						CCGGCACAGCACATACTGGCC	0.557												
C5	727	broad.mit.edu	37	9	123787797	123787797	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:123787797T>C	uc004bkv.2	-	9	965	c.935A>G	c.(934-936)TAC>TGC	p.Y312C	C5_uc010mvm.1_Missense_Mutation_p.Y312C|C5_uc010mvn.1_Missense_Mutation_p.Y312C	NM_001735	NP_001726	P01031	CO5_HUMAN	complement component 5 preproprotein	312					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TAAACTGTAGTATGACAGTTC	0.279												
OR1Q1	158131	broad.mit.edu	37	9	125377434	125377434	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:125377434C>T	uc011lyy.1	+	1	418	c.418C>T	c.(418-420)CTG>TTG	p.L140L		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q,	140	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GACTAGAATGCTGTGTGTGAA	0.488												
RABGAP1	23637	broad.mit.edu	37	9	125746881	125746881	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:125746881G>A	uc011lzh.1	+	3	402	c.268G>A	c.(268-270)GGT>AGT	p.G90S	RABGAP1_uc004bnl.3_RNA|RABGAP1_uc004bnm.1_Missense_Mutation_p.G90S	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	90					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5						ACAACTGGATGGTGAAGGAGA	0.498												
OLFML2A	169611	broad.mit.edu	37	9	127563865	127563865	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:127563865T>A	uc004bov.2	+	5	955	c.842T>A	c.(841-843)CTG>CAG	p.L281Q	OLFML2A_uc010mwr.1_Missense_Mutation_p.L245Q|OLFML2A_uc004bow.2_Missense_Mutation_p.L67Q	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A precursor	281											0						CCCCGCGCCCTGGCCCAGCAG	0.632												
PPP6C	5537	broad.mit.edu	37	9	127911974	127911974	+	Missense_Mutation	SNP	G	G	A	rs144776498		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:127911974G>A	uc004bpg.3	-	7	1117	c.896C>T	c.(895-897)ACG>ATG	p.T299M	PPP6C_uc010mwv.2_Missense_Mutation_p.T336M|PPP6C_uc010mww.2_Missense_Mutation_p.T277M|PPP6C_uc011lzr.1_Missense_Mutation_p.T152M	NM_002721	NP_002712	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit isoform	299					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			ovary(1)|skin(1)	2						TGGCGTTGTCGTTCTGGGAGG	0.428												
FAM125B	89853	broad.mit.edu	37	9	129148907	129148907	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:129148907T>C	uc004bqh.1	+	4	460	c.379T>C	c.(379-381)TTC>CTC	p.F127L	FAM125B_uc004bqg.1_Missense_Mutation_p.F127L|FAM125B_uc011lzy.1_Missense_Mutation_p.F112L|FAM125B_uc010mxd.2_Missense_Mutation_p.F120L|FAM125B_uc011lzz.1_Missense_Mutation_p.F120L	NM_033446	NP_258257	Q9H7P6	F125B_HUMAN	hypothetical protein LOC89853 isoform 1	127	MABP.				protein transport	late endosome membrane					0						GCCTGTGGGCTTCATCCCAAT	0.433												
SLC2A8	29988	broad.mit.edu	37	9	130166038	130166038	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:130166038G>A	uc004bqu.2	+	6	868	c.823G>A	c.(823-825)GTC>ATC	p.V275I	SLC2A8_uc010mxj.2_Missense_Mutation_p.V275I|SLC2A8_uc004bqv.2_5'Flank	NM_014580	NP_055395	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose	275	Helical; Name=7; (Potential).					cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity			ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						GGTCAACGCCGTCATGTTCTA	0.597												
PIP5KL1	138429	broad.mit.edu	37	9	130688241	130688241	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:130688241C>T	uc011mao.1	-	8	713	c.668G>A	c.(667-669)TGC>TAC	p.C223Y	PIP5KL1_uc004bsu.2_Missense_Mutation_p.C20Y	NM_001135219	NP_001128691	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	223	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			lung(1)|kidney(1)	2						GCTCACCTCGCAGCCTTTGAT	0.537												
LCN2	3934	broad.mit.edu	37	9	130911883	130911883	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:130911883C>A	uc004bto.1	+	1	152	c.79C>A	c.(79-81)CTG>ATG	p.L27M	LCN2_uc010mxq.1_Missense_Mutation_p.L27M|LCN2_uc011map.1_Missense_Mutation_p.L27M	NM_005564	NP_005555	P80188	NGAL_HUMAN	lipocalin 2 precursor	27					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity				0						CACCTCAGACCTGATCCCAGC	0.642												
CERCAM	51148	broad.mit.edu	37	9	131191243	131191243	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:131191243G>A	uc004buz.3	+	8	1396	c.998G>A	c.(997-999)CGT>CAT	p.R333H	CERCAM_uc004buy.1_Missense_Mutation_p.R255H|CERCAM_uc010mxz.2_Missense_Mutation_p.R255H|CERCAM_uc010mya.1_Missense_Mutation_p.R174H	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule 1	333					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				pancreas(1)	1						AGGCCTGACCGTCGGGAACGC	0.672												
METTL11A	28989	broad.mit.edu	37	9	132396585	132396585	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:132396585G>T	uc004byd.1	+	3	609	c.415G>T	c.(415-417)GGC>TGC	p.G139C	METTL11A_uc010myw.1_Intron|METTL11A_uc011mbs.1_Intron	NM_014064	NP_054783	Q9BV86	NTM1A_HUMAN	methyltransferase like 11A	139					chromosome segregation|N-terminal peptidyl-proline dimethylation|N-terminal peptidyl-serine dimethylation|N-terminal peptidyl-serine trimethylation|spindle organization	nucleus	protein binding|protein methyltransferase activity				0						GTGGGTGATAGGTGAGGGTTC	0.592												
FNBP1	23048	broad.mit.edu	37	9	132741597	132741597	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:132741597T>G	uc004byw.1	-	3	416	c.197A>C	c.(196-198)AAG>ACG	p.K66T	FNBP1_uc011mbv.1_Missense_Mutation_p.K66T|FNBP1_uc011mbw.1_Missense_Mutation_p.K66T|FNBP1_uc004bza.2_Missense_Mutation_p.K66T|FNBP1_uc004byz.1_Missense_Mutation_p.K66T|FNBP1_uc004byx.1_5'UTR|FNBP1_uc004byy.1_5'UTR	NM_015033	NP_055848	Q96RU3	FNBP1_HUMAN	formin binding protein 1	66	Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation.|Self-association, lipid-binding and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding				0		Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		GTAAACATACTTGTATTCTTC	0.328			T	MLL	AML							
GPR107	57720	broad.mit.edu	37	9	132866711	132866711	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:132866711G>A	uc004bze.2	+	13	1371	c.1144G>A	c.(1144-1146)GTA>ATA	p.V382I	GPR107_uc004bzb.2_Missense_Mutation_p.V193I|GPR107_uc004bzc.3_RNA|GPR107_uc011mbx.1_Missense_Mutation_p.V382I|GPR107_uc004bzd.2_Missense_Mutation_p.V382I	NM_001136557	NP_001130029	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107 isoform 1	382	Helical; Name=4; (Potential).					integral to membrane				upper_aerodigestive_tract(1)	1		Ovarian(14;0.000531)				CCTGGCAAATGTAGCCTACAT	0.522												
POMT1	10585	broad.mit.edu	37	9	134397547	134397547	+	Missense_Mutation	SNP	G	G	A	rs119462987		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:134397547G>A	uc004cav.2	+	19	2207	c.2005G>A	c.(2005-2007)GCA>ACA	p.A669T	POMT1_uc004cax.2_Missense_Mutation_p.A647T|POMT1_uc011mcj.1_Missense_Mutation_p.A387T|POMT1_uc004cau.2_Missense_Mutation_p.A647T|POMT1_uc004caw.2_Missense_Mutation_p.A593T|POMT1_uc011mck.1_Missense_Mutation_p.A530T|POMT1_uc011mcl.1_Missense_Mutation_p.A495T|POMT1_uc011mcm.1_Missense_Mutation_p.A617T	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1 isoform a	669	Helical; (Potential).		A -> T (in MDDGB1).		multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			upper_aerodigestive_tract(1)	1		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		CTACCTGCCCGCACTCACCTT	0.627												
C9orf9	11092	broad.mit.edu	37	9	135762810	135762810	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:135762810C>T	uc004cbx.1	+	3	310	c.199C>T	c.(199-201)CTC>TTC	p.L67F	C9orf9_uc004cby.1_Missense_Mutation_p.L67F|C9orf9_uc004cbz.1_Missense_Mutation_p.L67F	NM_018956	NP_061829	Q96E40	CI009_HUMAN	Rsb-66 protein	67								p.?(1)			0				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)		GCGGGTTCTGCTCATGTTCCT	0.582												
C9orf96	169436	broad.mit.edu	37	9	136265620	136265620	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:136265620G>A	uc004cdk.2	+	12	1222	c.1161G>A	c.(1159-1161)CTG>CTA	p.L387L	C9orf96_uc004cdl.2_RNA	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	hypothetical protein LOC169436	387							ATP binding|protein kinase activity			stomach(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ATGTCCAGCTGTGTGCCTGCT	0.682												
ADAMTS13	11093	broad.mit.edu	37	9	136319618	136319619	+	Missense_Mutation	DNP	CG	CG	TA			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:136319618_136319619CG>TA	uc004cdv.3	+	24	3570_3571	c.3126_3127CG>TA	c.(3124-3129)CTCGAC>CTTAAC	p.D1043N	ADAMTS13_uc004cdp.3_Missense_Mutation_p.D270N|ADAMTS13_uc004cdt.1_Missense_Mutation_p.D1043N|ADAMTS13_uc004cdu.1_Missense_Mutation_p.D1012N|ADAMTS13_uc004cdw.3_Missense_Mutation_p.D1043N|ADAMTS13_uc004cdx.3_Missense_Mutation_p.D1012N|ADAMTS13_uc004cdz.3_Missense_Mutation_p.D713N|ADAMTS13_uc004cea.1_5'Flank|ADAMTS13_uc004ceb.3_5'Flank	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1043	TSP type-1 7.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GTGTGCAGCTCGACCAAGGCCA	0.658												
DBH	1621	broad.mit.edu	37	9	136501500	136501500	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:136501500G>A	uc004cel.2	+	1	16	c.7G>A	c.(7-9)GCC>ACC	p.A3T		NM_000787	NP_000778	P09172	DOPO_HUMAN	dopamine beta hydroxylase precursor	3	Cytoplasmic (Potential).				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	AGCCATGCCCGCCCTCAGTCG	0.642												
SARDH	1757	broad.mit.edu	37	9	136595252	136595252	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:136595252G>A	uc004cep.3	-	5	882	c.748C>T	c.(748-750)CGG>TGG	p.R250W	SARDH_uc004ceo.2_Missense_Mutation_p.R250W|SARDH_uc011mdn.1_Missense_Mutation_p.R250W|SARDH_uc011mdo.1_Missense_Mutation_p.R82W	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	250					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GCGACCCGCCGCACCCCAAAA	0.577												
SARDH	1757	broad.mit.edu	37	9	136597651	136597651	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:136597651C>T	uc004cep.3	-	3	538	c.404G>A	c.(403-405)CGG>CAG	p.R135Q	SARDH_uc004ceo.2_Missense_Mutation_p.R135Q|SARDH_uc011mdn.1_Missense_Mutation_p.R135Q|SARDH_uc011mdo.1_5'UTR	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	135					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CTCCAGCTCCCGGCTCACCAC	0.677												
SARDH	1757	broad.mit.edu	37	9	136599205	136599205	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:136599205C>T	uc004cep.3	-	2	225	c.91G>A	c.(91-93)GCA>ACA	p.A31T	SARDH_uc004ceo.2_Missense_Mutation_p.A31T|SARDH_uc011mdn.1_Missense_Mutation_p.A31T|SARDH_uc011mdo.1_Intron	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	31					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GGGCCAGCTGCGCTGGACAGG	0.697												
VAV2	7410	broad.mit.edu	37	9	136662843	136662843	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:136662843G>A	uc004ces.2	-	10	971	c.925C>T	c.(925-927)CAG>TAG	p.Q309*	VAV2_uc004cer.2_Nonsense_Mutation_p.Q304*	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor isoform	309	DH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TCGACTTTCTGCCTGAAGTCC	0.617												
OBP2A	29991	broad.mit.edu	37	9	138438712	138438712	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:138438712T>G	uc004cgb.2	+	2	203	c.161T>G	c.(160-162)GTG>GGG	p.V54G	OBP2A_uc004cgc.2_Missense_Mutation_p.V54G|OBP2A_uc010nau.2_RNA|OBP2A_uc010nav.2_Intron	NM_014582	NP_055397	Q9NY56	OBP2A_HUMAN	odorant binding protein 2A precursor	54					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CCAGTGAAGGTGACAGCCCTG	0.627												
KCNT1	57582	broad.mit.edu	37	9	138656935	138656935	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:138656935G>A	uc011mdq.1	+	12	1168	c.1094G>A	c.(1093-1095)CGC>CAC	p.R365H	KCNT1_uc011mdr.1_Missense_Mutation_p.R192H|KCNT1_uc010nbf.2_Missense_Mutation_p.R320H|KCNT1_uc004cgo.1_Missense_Mutation_p.R114H	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	365						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		AACTACAGCCGCCACCGTGCG	0.617												
GPSM1	26086	broad.mit.edu	37	9	139250158	139250158	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:139250158C>T	uc004chd.2	+	12	1692	c.1472C>T	c.(1471-1473)CCG>CTG	p.P491L	GPSM1_uc011mdu.1_5'UTR|GPSM1_uc004che.2_5'UTR	NM_001145638	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1 (AGS3-like, C.	491	Mediates association with membranes (By similarity).				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity				0		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		CCGAGGGCCCCGTCTTCGGAC	0.672												
CARD9	64170	broad.mit.edu	37	9	139262099	139262099	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:139262099G>A	uc004chg.3	-	8	1425	c.1259C>T	c.(1258-1260)ACG>ATG	p.T420M	CARD9_uc011mdw.1_Missense_Mutation_p.T420M|CARD9_uc011mdx.1_Missense_Mutation_p.T316M	NM_052813	NP_434700	Q9H257	CARD9_HUMAN	caspase recruitment domain protein 9 isoform 1	420					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			pancreas(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CAGGACGAGCGTCTCCAGCTG	0.726												
PMPCA	23203	broad.mit.edu	37	9	139312525	139312525	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:139312525G>A	uc004chl.2	+	8	959	c.954G>A	c.(952-954)ACG>ACA	p.T318T	PMPCA_uc010nbl.2_Silent_p.T218T|PMPCA_uc011mdz.1_Silent_p.T187T|PMPCA_uc004chm.1_Silent_p.T68T|PMPCA_uc004chn.1_5'Flank	NM_015160	NP_055975	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	318					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding				0		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		CCGAGCTCACGCACATCATGG	0.567												
SEC16A	9919	broad.mit.edu	37	9	139370070	139370070	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:139370070C>T	uc004chx.2	-	3	2307	c.1998G>A	c.(1996-1998)ATG>ATA	p.M666I	SEC16A_uc004chv.3_Missense_Mutation_p.M293I|SEC16A_uc004chw.2_Missense_Mutation_p.M666I|SEC16A_uc010nbn.2_Missense_Mutation_p.M666I|SEC16A_uc010nbo.1_Missense_Mutation_p.M666I	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	488					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		AGAGGGTCTCCATGTTGTCTG	0.627												
NOTCH1	4851	broad.mit.edu	37	9	139393707	139393707	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:139393707A>G	uc004chz.2	-	32	5939	c.5939T>C	c.(5938-5940)CTG>CCG	p.L1980P		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1980	ANK 2.|Cytoplasmic (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)		GTTCCGGATCAGGATCTGGGC	0.657			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)		
NOTCH1	4851	broad.mit.edu	37	9	139411769	139411769	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:139411769G>A	uc004chz.2	-	9	1510	c.1510C>T	c.(1510-1512)CGC>TGC	p.R504C		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	504	Extracellular (Potential).|EGF-like 13; 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)		TCCAGGCAGCGGCCATTGTGC	0.682			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)		
FAM69B	138311	broad.mit.edu	37	9	139616709	139616709	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:139616709A>G	uc004cik.2	+	4	533	c.439A>G	c.(439-441)ACC>GCC	p.T147A	FAM69B_uc004cil.2_Missense_Mutation_p.T60A|SNHG7_uc004cim.2_RNA	NM_152421	NP_689634	Q5VUD6	FA69B_HUMAN	hypothetical protein LOC138311	147	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		CACCCGGGGCACCTCCATCAA	0.627												
C9orf142	286257	broad.mit.edu	37	9	139888236	139888236	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:139888236C>T	uc004cki.2	+	7	620	c.594C>T	c.(592-594)GGC>GGT	p.G198G		NM_183241	NP_899064	Q9BUH6	CI142_HUMAN	hypothetical protein LOC286257	198											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)		CAGCTGGTGGCGTGGACTTCG	0.617												
ANAPC2	29882	broad.mit.edu	37	9	140069716	140069716	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:140069716C>A	uc004clr.1	-	12	2302	c.2229G>T	c.(2227-2229)CAG>CAT	p.Q743H	ANAPC2_uc004clq.1_Missense_Mutation_p.Q599H	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	anaphase-promoting complex subunit 2	743					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			ovary(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TCTGGTCGGCCTGGGAGGCCA	0.701												
FAM166A	401565	broad.mit.edu	37	9	140139824	140139824	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:140139824G>T	uc004cmi.1	-	3	512	c.457C>A	c.(457-459)CCA>ACA	p.P153T		NM_001001710	NP_001001710	Q6J272	F166A_HUMAN	hypothetical protein LOC401565	153										ovary(1)	1						CCGTATACTGGGTGTCCCAAG	0.647												
ENTPD8	377841	broad.mit.edu	37	9	140329487	140329487	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:140329487G>A	uc004cmw.2	-	10	1551	c.1367C>T	c.(1366-1368)GCG>GTG	p.A456V	C9orf167_uc011mew.1_Intron|ENTPD8_uc004cmx.2_Missense_Mutation_p.A419V	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	456	Extracellular (Potential).					integral to membrane|plasma membrane	ATP binding			skin(1)	1	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		CTGAGCCGGCGCATCGGCCGG	0.682												
SFRS17A	8227	broad.mit.edu	37	X	1719900	1719900	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:1719900G>A	uc004cqa.2	+	5	1697	c.1501G>A	c.(1501-1503)GCC>ACC	p.A501T	SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_Intron	NM_005088	NP_005079	Q02040	AK17A_HUMAN	DNA segment on chromosome X and Y (unique) 155	501					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGAGAGCCCGGCCCACCCAGA	0.716												
ARSD	414	broad.mit.edu	37	X	2840009	2840009	+	Missense_Mutation	SNP	G	G	A	rs151213601	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:2840009G>A	uc004cqy.2	-	3	327	c.251C>T	c.(250-252)GCG>GTG	p.A84V	ARSD_uc004cqz.1_Intron|ARSD_uc004cra.1_Missense_Mutation_p.A84V|ARSD_uc004crb.3_Missense_Mutation_p.A84V	NM_001669	NP_001660	P51689	ARSD_HUMAN	arylsulfatase D isoform a precursor	84						lysosome	arylsulfatase activity|metal ion binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGGGGCGGCCGCCAGGTGCTG	0.547												
PRKX	5613	broad.mit.edu	37	X	3573188	3573188	+	Splice_Site	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:3573188A>G	uc010nde.2	-	3	966	c.599_splice	c.e3+1	p.R200_splice		NM_005044	NP_005035	P51817	PRKX_HUMAN	protein kinase, X-linked								ATP binding|cAMP-dependent protein kinase activity			skin(2)|lung(1)	3		all_lung(23;0.000396)|Lung NSC(23;0.00123)				CGTTCCTCTTACCTGTCTACC	0.512												
VCX3A	51481	broad.mit.edu	37	X	6451812	6451812	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:6451812C>T	uc004crs.2	-	3	842	c.535G>A	c.(535-537)GAG>AAG	p.E179K	VCX3A_uc010ndk.1_Intron	NM_016379	NP_057463	Q9NNX9	VCX3_HUMAN	variable charge, X-linked 3A	179	8 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|8.|Glu-rich.				brain development	nucleolus					0						TCTTCCATCTCGCTCTCCTGA	0.587												
STS	412	broad.mit.edu	37	X	7177678	7177678	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:7177678T>C	uc004cry.3	+	5	931	c.686T>C	c.(685-687)CTT>CCT	p.L229P		NM_000351	NP_000342	P08842	STS_HUMAN	steryl-sulfatase precursor	229	Helical.				female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			central_nervous_system(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	ATCCTGACCCTTTTCTTGGGC	0.512									Ichthyosis			
KAL1	3730	broad.mit.edu	37	X	8522075	8522075	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:8522075T>C	uc004csf.2	-	9	1422	c.1272A>G	c.(1270-1272)CGA>CGG	p.R424R		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	424					axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4						GGCGAGTGGGTCGTCGTCTTT	0.413												
OFD1	8481	broad.mit.edu	37	X	13785292	13785292	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:13785292A>G	uc004cvp.3	+	20	3005	c.2646A>G	c.(2644-2646)ATA>ATG	p.I882M	OFD1_uc004cvr.3_Missense_Mutation_p.I412M|OFD1_uc011mil.1_Missense_Mutation_p.I449M|OFD1_uc004cvq.3_Missense_Mutation_p.I705M|OFD1_uc010nen.2_Missense_Mutation_p.I881M|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Missense_Mutation_p.I841M|OFD1_uc004cvv.3_Missense_Mutation_p.I841M	NM_003611	NP_003602	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	882	Mediates the interaction with SDCCAG8.|Potential.				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding				0						AAGAAAAAATACGGGAACAGC	0.353												
GPM6B	2824	broad.mit.edu	37	X	13803832	13803832	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:13803832C>T	uc004cvz.2	-	2	448	c.157G>A	c.(157-159)GGC>AGC	p.G53S	GPM6B_uc004cvx.2_Missense_Mutation_p.G34S|GPM6B_uc011min.1_5'UTR|GPM6B_uc004cwa.2_Missense_Mutation_p.G34S|GPM6B_uc004cvw.2_Missense_Mutation_p.G93S|GPM6B_uc011mim.1_Missense_Mutation_p.G67S|GPM6B_uc004cvy.2_Missense_Mutation_p.G93S	NM_005278	NP_005269	Q13491	GPM6B_HUMAN	glycoprotein M6B isoform 3	53					cell differentiation|nervous system development	integral to membrane					0						TGCCCACAGCCGCAGAATAAG	0.587												
PIGA	5277	broad.mit.edu	37	X	15349630	15349630	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:15349630G>A	uc004cwr.2	-	2	523	c.423C>T	c.(421-423)CAC>CAT	p.H141H	PIGA_uc004cwq.2_Intron|PIGA_uc010nev.2_Intron|PIGA_uc004cws.2_Intron|PIGA_uc011miq.1_Intron|PIGA_uc010new.1_Intron	NM_002641	NP_002632	P37287	PIGA_HUMAN	phosphatidylinositol	141	Cytoplasmic (Potential).				C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding				0	Hepatocellular(33;0.183)					TTGTCTTGGCGTGGAAGAGAG	0.468												
ACE2	59272	broad.mit.edu	37	X	15596275	15596275	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:15596275C>T	uc004cxa.1	-	9	1402	c.1234G>A	c.(1234-1236)GCA>ACA	p.A412T	ACE2_uc004cxb.2_Missense_Mutation_p.A412T	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2 precursor	412	Extracellular (Potential).				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			ovary(3)	3	Hepatocellular(33;0.183)				Moexipril(DB00691)	GGTGTGGCTGCAGAAAGTGAC	0.408												
BEND2	139105	broad.mit.edu	37	X	18221757	18221757	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:18221757T>C	uc004cyj.3	-	5	925	c.771A>G	c.(769-771)GTA>GTG	p.V257V	BEND2_uc010nfb.2_Silent_p.V257V	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	257										ovary(3)|kidney(1)|central_nervous_system(1)	5						CTGCCATAGGTACTGCTGTAG	0.458												
RS1	6247	broad.mit.edu	37	X	18660170	18660170	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:18660170A>C	uc004cyo.2	-	6	664	c.629T>G	c.(628-630)ATT>AGT	p.I210S	CDKL5_uc004cym.2_Intron|CDKL5_uc004cyn.2_Intron	NM_000330	NP_000321	O15537	XLRS1_HUMAN	X-linked juvenile retinoschisis protein	210	F5/8 type C.				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				ovary(2)	2	Hepatocellular(33;0.183)					CCGGATGGCAATGCGGACGTG	0.662												
GPR64	10149	broad.mit.edu	37	X	19031936	19031936	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:19031936C>T	uc004cyx.2	-	16	1131	c.967G>A	c.(967-969)GAA>AAA	p.E323K	GPR64_uc004cyy.2_Missense_Mutation_p.E320K|GPR64_uc004cyz.2_Missense_Mutation_p.E309K|GPR64_uc004czb.2_Missense_Mutation_p.E323K|GPR64_uc004czc.2_Missense_Mutation_p.E307K|GPR64_uc004czd.2_Missense_Mutation_p.E299K|GPR64_uc004cze.2_Missense_Mutation_p.E293K|GPR64_uc004czf.2_Missense_Mutation_p.E285K|GPR64_uc004cza.2_Missense_Mutation_p.E301K|GPR64_uc004cyw.2_Missense_Mutation_p.E307K|GPR64_uc010nfj.2_Missense_Mutation_p.E293K	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	323	Extracellular (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)					GAGATCGTTTCAGACTGTGGG	0.567												
GPR64	10149	broad.mit.edu	37	X	19041547	19041547	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:19041547C>T	uc004cyx.2	-	13	699	c.535G>A	c.(535-537)GCA>ACA	p.A179T	GPR64_uc004cyy.2_Missense_Mutation_p.A176T|GPR64_uc004cyz.2_Missense_Mutation_p.A165T|GPR64_uc004czb.2_Missense_Mutation_p.A179T|GPR64_uc004czc.2_Missense_Mutation_p.A163T|GPR64_uc004czd.2_Missense_Mutation_p.A155T|GPR64_uc004cze.2_Missense_Mutation_p.A149T|GPR64_uc004czf.2_Missense_Mutation_p.A141T|GPR64_uc004cza.2_Missense_Mutation_p.A157T|GPR64_uc004cyw.2_Missense_Mutation_p.A163T|GPR64_uc010nfj.2_Missense_Mutation_p.A149T	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	179	Extracellular (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)					TGGGCCTCTGCTGTAGCACAC	0.303												
CNKSR2	22866	broad.mit.edu	37	X	21627197	21627197	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:21627197C>T	uc004czx.1	+	20	2190	c.2154C>T	c.(2152-2154)TGC>TGT	p.C718C	CNKSR2_uc004czw.2_Silent_p.C718C|CNKSR2_uc011mjn.1_Silent_p.C669C|CNKSR2_uc011mjo.1_Silent_p.C688C|CNKSR2_uc004czy.2_Silent_p.C310C	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	718					regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)|lung(1)	2						AGATGAGTTGCGCCAGTCCTT	0.458												
MAGEB18	286514	broad.mit.edu	37	X	26157824	26157824	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:26157824G>T	uc004dbq.1	+	2	909	c.722G>T	c.(721-723)AGG>ATG	p.R241M		NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	241	MAGE.						protein binding			central_nervous_system(1)	1						GGGGATCCCAGGAAGGTCATG	0.493												
IL1RAPL1	11141	broad.mit.edu	37	X	29973260	29973260	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:29973260C>T	uc004dby.2	+	11	1922	c.1414C>T	c.(1414-1416)CGG>TGG	p.R472W		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	472	Cytoplasmic (Potential).|TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5						TCAAAGCAAGCGGCTGATTAT	0.403												
IL1RAPL1	11141	broad.mit.edu	37	X	29973572	29973572	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:29973572A>T	uc004dby.2	+	11	2234	c.1726A>T	c.(1726-1728)AGT>TGT	p.S576C		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	576	Cytoplasmic (Potential).|Interaction with NCS1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5						TTTAGATGTCAGTGAGCAAGG	0.498												
TAB3	257397	broad.mit.edu	37	X	30849602	30849602	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:30849602A>G	uc004dcj.2	-	11	2744	c.2081T>C	c.(2080-2082)TTT>TCT	p.F694S	TAB3_uc004dck.2_Missense_Mutation_p.F694S|TAB3_uc010ngl.2_Missense_Mutation_p.F666S	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	mitogen-activated protein kinase kinase kinase 7	694	RanBP2-type.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			ovary(1)	1						GTGGTTAAGAAAGGTGCAGCT	0.512												
FAM47B	170062	broad.mit.edu	37	X	34961020	34961020	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:34961020A>G	uc004ddi.1	+	1	90	c.72A>G	c.(70-72)AAA>AAG	p.K24K		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	24										ovary(3)|breast(1)	4						ACTGTGACAAACCGCCTTCCA	0.622												
BCOR	54880	broad.mit.edu	37	X	39933947	39933947	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:39933947A>G	uc004den.3	-	4	944	c.652T>C	c.(652-654)TAC>CAC	p.Y218H	BCOR_uc004dep.3_Missense_Mutation_p.Y218H|BCOR_uc004deo.3_Missense_Mutation_p.Y218H|BCOR_uc004dem.3_Missense_Mutation_p.Y218H|BCOR_uc004deq.3_Missense_Mutation_p.Y218H	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	218					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						AAGGCCTTGTACATGTTCAGT	0.552												
USP9X	8239	broad.mit.edu	37	X	41089041	41089041	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:41089041A>G	uc004dfb.2	+	43	8073	c.7440A>G	c.(7438-7440)AAA>AAG	p.K2480K	USP9X_uc004dfc.2_Intron	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	2480					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						AGGTAAAAAAAGCCACCAGTG	0.353												
ZNF157	7712	broad.mit.edu	37	X	47269695	47269695	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:47269695T>C	uc004dhr.1	+	2	162	c.93T>C	c.(91-93)GAT>GAC	p.D31D		NM_003446	NP_003437	P51786	ZN157_HUMAN	zinc finger protein 157	31	KRAB.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CATTCGAGGATGTGGCTGTGG	0.502												
ARAF	369	broad.mit.edu	37	X	47428435	47428435	+	Splice_Site	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:47428435A>G	uc011mlq.1	+	12	1435	c.1302_splice	c.e12+1	p.N434_splice		NM_001654	NP_001645	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene						intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			large_intestine(3)|lung(2)|ovary(1)|skin(1)	7					Adenosine triphosphate(DB00171)	GTCTAACAGTATCTATCTGTC	0.567											OREG0019759	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SYN1	6853	broad.mit.edu	37	X	47478894	47478894	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:47478894C>T	uc004die.2	-	1	363	c.234G>A	c.(232-234)TCG>TCA	p.S78S	SYN1_uc004did.2_Silent_p.S78S	NM_006950	NP_008881	P17600	SYN1_HUMAN	synapsin I isoform Ia	78	B; linker.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			ovary(1)	1						TGGACAGCGACGAGAAGAAGC	0.771												
ELK1	2002	broad.mit.edu	37	X	47498485	47498485	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:47498485G>A	uc004dik.3	-	4	785	c.463C>T	c.(463-465)CGC>TGC	p.R155C	ELK1_uc010nhv.2_Missense_Mutation_p.R155C|ELK1_uc010nhw.2_Missense_Mutation_p.R45C|ELK1_uc004dil.3_Intron	NM_001114123	NP_001107595	P19419	ELK1_HUMAN	ELK1 protein	155					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|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		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2						AGGCCCGAGCGCATGTACTCG	0.657												
HDAC6	10013	broad.mit.edu	37	X	48681196	48681196	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:48681196G>A	uc011mmi.1	+	24	2599	c.2504G>A	c.(2503-2505)CGG>CAG	p.R835Q	HDAC6_uc004dks.1_Missense_Mutation_p.R835Q|HDAC6_uc010nig.1_Missense_Mutation_p.R683Q|HDAC6_uc004dkt.1_Missense_Mutation_p.R835Q|HDAC6_uc011mmk.1_Missense_Mutation_p.R816Q|HDAC6_uc004dkv.1_Missense_Mutation_p.R483Q|HDAC6_uc004dkw.1_Missense_Mutation_p.R483Q|HDAC6_uc004dkx.1_Missense_Mutation_p.R198Q	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	835					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)	CGCAGCTTACGGGTCATGAGT	0.622												
CCNB3	85417	broad.mit.edu	37	X	50052659	50052659	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:50052659C>T	uc004dox.3	+	6	1788	c.1490C>T	c.(1489-1491)ACT>ATT	p.T497I	CCNB3_uc004doy.2_Missense_Mutation_p.T497I|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	497					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					AAGCATGCCACTCAGGGGACA	0.433												
KDM5C	8242	broad.mit.edu	37	X	53247093	53247093	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:53247093C>T	uc004drz.2	-	4	940	c.407G>A	c.(406-408)CGG>CAG	p.R136Q	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Missense_Mutation_p.R69Q|KDM5C_uc004dsa.2_Missense_Mutation_p.R136Q	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	136	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						CTGGGCTACCCGAGCCCACCG	0.483			N|F|S		clear cell renal carcinoma							
SMC1A	8243	broad.mit.edu	37	X	53436412	53436412	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:53436412C>T	uc004dsg.2	-	8	1346	c.1277G>A	c.(1276-1278)CGG>CAG	p.R426Q	SMC1A_uc011moe.1_Missense_Mutation_p.R404Q|SMC1A_uc011mof.1_Missense_Mutation_p.R192Q	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	426	Potential.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			ovary(5)|central_nervous_system(1)	6						TTCAATTTCCCGCAGCTTTTG	0.493												
HUWE1	10075	broad.mit.edu	37	X	53586416	53586416	+	Missense_Mutation	SNP	C	C	T	rs142176360		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:53586416C>T	uc004dsp.2	-	57	8216	c.7814G>A	c.(7813-7815)CGC>CAC	p.R2605H	HUWE1_uc004dsn.2_Missense_Mutation_p.R1429H|uc004dss.2_5'Flank|MIRLET7F2_hsa-let-7f-2|MI0000068_5'Flank	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	2605					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						TACCAGGAGGCGGGCCCGACC	0.572												
PHF8	23133	broad.mit.edu	37	X	54044103	54044103	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:54044103G>A	uc004dsu.2	-	5	626	c.553C>T	c.(553-555)CAC>TAC	p.H185Y	PHF8_uc004dst.2_Missense_Mutation_p.H149Y|PHF8_uc004dsv.2_Missense_Mutation_p.H15Y|PHF8_uc004dsw.2_Missense_Mutation_p.H149Y|PHF8_uc004dsy.2_Missense_Mutation_p.H149Y	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	185					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3						CCAACATAGTGTTCAACATCC	0.473												
FAM120C	54954	broad.mit.edu	37	X	54162023	54162023	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:54162023T>C	uc004dsz.3	-	6	1356	c.1273A>G	c.(1273-1275)AGG>GGG	p.R425G	FAM120C_uc011moh.1_Missense_Mutation_p.R425G	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	hypothetical protein LOC54954	425										ovary(1)|central_nervous_system(1)	2						TTTCCAAGCCTATTATTCCGA	0.408												
FGD1	2245	broad.mit.edu	37	X	54482797	54482797	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:54482797C>A	uc004dtg.2	-	10	2432	c.1698G>T	c.(1696-1698)GAG>GAT	p.E566D	FGD1_uc011moi.1_Missense_Mutation_p.E324D	NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	566					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|skin(2)|central_nervous_system(1)	6						TATGCATTCGCTCCTGGCAAA	0.547												
FGD1	2245	broad.mit.edu	37	X	54482983	54482983	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:54482983C>T	uc004dtg.2	-	9	2388	c.1654G>A	c.(1654-1656)GCC>ACC	p.A552T	FGD1_uc011moi.1_Missense_Mutation_p.A310T	NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	552	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|skin(2)|central_nervous_system(1)	6						GCTGCTGTGGCGATCAGCTCC	0.537												
PAGE2	203569	broad.mit.edu	37	X	55116967	55116967	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:55116967A>C	uc004duf.1	+	3	171	c.117A>C	c.(115-117)GAA>GAC	p.E39D		NM_207339	NP_997222	Q7Z2X7	GGEE2_HUMAN	P antigen family, member 2	39										ovary(2)	2						AACGTCAAGAAGAGGAACCAC	0.418												
USP51	158880	broad.mit.edu	37	X	55515232	55515232	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:55515232C>T	uc004dun.1	-	2	220	c.141G>A	c.(139-141)GCG>GCA	p.A47A	USP51_uc011moo.1_5'UTR	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	ubiquitin specific protease 51	47					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						GTCTCGAAGACGCCTTCGTAG	0.667												
ZXDB	158586	broad.mit.edu	37	X	57619668	57619668	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:57619668C>T	uc004dvd.2	+	1	1400	c.1187C>T	c.(1186-1188)GCG>GTG	p.A396V		NM_007157	NP_009088	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	396	C2H2-type 5.|Required for interaction with ZXDC (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding				0						TACCAGTGCGCGTTTTCTGGC	0.542												
FAM155B	27112	broad.mit.edu	37	X	68748853	68748853	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:68748853G>A	uc004dxk.2	+	2	927	c.879G>A	c.(877-879)TGG>TGA	p.W293*		NM_015686	NP_056501	O75949	F155B_HUMAN	transmembrane protein 28	293						integral to membrane				ovary(1)|breast(1)	2						ACAAGGCCTGGCTGTGCTCAG	0.592												
NLGN3	54413	broad.mit.edu	37	X	70384072	70384072	+	Silent	SNP	C	C	T	rs151276700	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:70384072C>T	uc004dzd.1	+	5	1007	c.807C>T	c.(805-807)AGC>AGT	p.S269S	NLGN3_uc010nlb.1_Silent_p.S229S|NLGN3_uc004dzb.2_Silent_p.S249S|NLGN3_uc004dzc.2_Silent_p.S132S|NLGN3_uc011mps.1_Silent_p.S229S|NLGN3_uc004dze.2_Silent_p.S67S|NLGN3_uc011mpr.1_Silent_p.S229S	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	269	Extracellular (Potential).				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			ovary(1)	1	Renal(35;0.156)					GCTGGGTGAGCGAGAATATTG	0.577												
ABCB7	22	broad.mit.edu	37	X	74288914	74288914	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:74288914A>C	uc004eca.2	-	12	1612	c.1587T>G	c.(1585-1587)ATT>ATG	p.I529M	ABCB7_uc004ebz.2_Missense_Mutation_p.I530M|ABCB7_uc011mqn.1_Missense_Mutation_p.I503M|ABCB7_uc010nls.2_Missense_Mutation_p.I490M|ABCB7_uc010nlt.2_Missense_Mutation_p.I489M	NM_004299	NP_004290	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B, member 7	529	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			ovary(1)	1						CAGCAAGATAAATGCTACCCT	0.383												
ATRX	546	broad.mit.edu	37	X	76937066	76937066	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:76937066G>A	uc004ecp.3	-	9	3914	c.3682C>T	c.(3682-3684)CCT>TCT	p.P1228S	ATRX_uc004ecq.3_Missense_Mutation_p.P1190S|ATRX_uc004eco.3_Missense_Mutation_p.P1013S|ATRX_uc004ecr.2_Missense_Mutation_p.P1160S|ATRX_uc010nlx.1_Missense_Mutation_p.P1199S|ATRX_uc010nly.1_Missense_Mutation_p.P1173S	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1228					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	TCAGTCACAGGCTTAATTTTC	0.358			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome					
PGK1	5230	broad.mit.edu	37	X	77381299	77381299	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:77381299C>A	uc004ecz.3	+	11	1398	c.1226C>A	c.(1225-1227)CCT>CAT	p.P409H	PGK1_uc010nlz.2_RNA|PGK1_uc011mqq.1_Missense_Mutation_p.P381H	NM_000291	NP_000282	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	409					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			upper_aerodigestive_tract(1)|ovary(1)	2						AAAGTCCTTCCTGGGGTGGAT	0.443												
SH3BGRL	6451	broad.mit.edu	37	X	80532615	80532615	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:80532615G>A	uc004eef.2	+	2	575	c.178G>A	c.(178-180)GCC>ACC	p.A60T	SH3BGRL_uc011mqs.1_RNA|SH3BGRL_uc010nml.2_RNA|SH3BGRL_uc010nmm.2_Missense_Mutation_p.A97T|SH3BGRL_uc010nmn.2_Missense_Mutation_p.A97T	NM_003022	NP_003013	O75368	SH3L1_HUMAN	SH3 domain binding glutamic acid-rich protein	60						cytoplasm|nucleus	SH3 domain binding|SH3/SH2 adaptor activity			ovary(1)	1		all_lung(315;5.94e-05)				TAGTCGACCAGCCACAGGTTA	0.398												
FAM133A	286499	broad.mit.edu	37	X	92964422	92964422	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:92964422G>T	uc004efr.1	+	4	317	c.4G>T	c.(4-6)GGG>TGG	p.G2W		NM_173698	NP_775969	Q8N9E0	F133A_HUMAN	hypothetical protein LOC286499	2											0						AGGCACCATGGGGAAGCGGGA	0.448												
PCDH19	57526	broad.mit.edu	37	X	99663156	99663156	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:99663156C>T	uc010nmz.2	-	1	2116	c.440G>A	c.(439-441)CGC>CAC	p.R147H	PCDH19_uc004efw.3_Missense_Mutation_p.R147H|PCDH19_uc004efx.3_Missense_Mutation_p.R147H	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	147	Cadherin 2.|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						CAGCGGGATGCGCGTGCCAGG	0.597												
CSTF2	1478	broad.mit.edu	37	X	100078931	100078931	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:100078931A>T	uc004egh.2	+	5	559	c.501A>T	c.(499-501)CAA>CAT	p.Q167H	CSTF2_uc010nnd.2_Missense_Mutation_p.Q167H|CSTF2_uc004egi.2_Missense_Mutation_p.Q167H	NM_001325	NP_001316	P33240	CSTF2_HUMAN	cleavage stimulation factor subunit 2	167	Interactions with CSTF3 and SYMPK.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|protein binding|RNA binding			skin(1)	1						AGAACCCTCAACTGGCTTATG	0.453												
TRMT2B	79979	broad.mit.edu	37	X	100292924	100292924	+	Silent	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:100292924G>T	uc004egq.2	-	4	719	c.420C>A	c.(418-420)CTC>CTA	p.L140L	TRMT2B_uc004egp.2_RNA|TRMT2B_uc004egr.2_Silent_p.L140L|TRMT2B_uc004egs.2_Silent_p.L140L|TRMT2B_uc004egt.2_Silent_p.L140L|TRMT2B_uc004egu.2_Silent_p.L21L|TRMT2B_uc004egv.2_Intron	NM_024917	NP_079193	Q96GJ1	TRM2_HUMAN	TRM2 tRNA methyltransferase 2 homolog B	140							tRNA (uracil-5-)-methyltransferase activity			ovary(1)	1						TAATAGGATGGAGAAGACAAG	0.358												
TMEM35	59353	broad.mit.edu	37	X	100349693	100349693	+	Silent	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:100349693G>A	uc004egw.2	+	2	408	c.252G>A	c.(250-252)GGG>GGA	p.G84G		NM_021637	NP_067650	Q53FP2	TMM35_HUMAN	transmembrane protein 35	84						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane					0						TTGTGCCTGGGCGTCCCAAAG	0.537												
CENPI	2491	broad.mit.edu	37	X	100400187	100400187	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:100400187A>C	uc004egx.2	+	16	1970	c.1700A>C	c.(1699-1701)AAG>ACG	p.K567T	CENPI_uc011mrg.1_Missense_Mutation_p.K567T	NM_006733	NP_006724	Q92674	CENPI_HUMAN	centromere protein I	567					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			skin(1)	1						TTCTATGAGAAGGTAGTACAC	0.378												
ARMCX3	51566	broad.mit.edu	37	X	100880023	100880023	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:100880023T>C	uc004ehz.1	+	5	587	c.54T>C	c.(52-54)GCT>GCC	p.A18A	ARMCX3_uc004eia.1_Silent_p.A18A|ARMCX3_uc004eib.1_Silent_p.A18A|ARMCX3_uc004eic.1_Silent_p.A18A	NM_016607	NP_057691	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	18	Helical; (Potential).					integral to membrane	binding			ovary(1)|lung(1)	2						TGATTGGGGCTGGCGCCTGCT	0.532												
GLRA4	441509	broad.mit.edu	37	X	102962291	102962291	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:102962291C>T	uc011mse.1	-	9	1656	c.1235G>A	c.(1234-1236)CGG>CAG	p.R412Q		NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4 precursor	412	Extracellular (Potential).					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity				0						GTAGAGTTTCCGCGTGGTTTC	0.512												
TEX13A	56157	broad.mit.edu	37	X	104464985	104464985	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:104464985C>T	uc004ema.2	-	2	209	c.97G>A	c.(97-99)GAG>AAG	p.E33K	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.E33K	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	testis expressed sequence 13A	33						intracellular	zinc ion binding			ovary(2)	2						AGATAGAACTCGGGGCCTTTC	0.552												
RNF128	79589	broad.mit.edu	37	X	105970509	105970509	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:105970509C>T	uc004eml.2	+	1	616	c.366C>T	c.(364-366)CGC>CGT	p.R122R	RNF128_uc004emk.2_Intron	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	ring finger protein 128 isoform 1	122	PA.					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			ovary(1)|central_nervous_system(1)	2						TCATCCAACGCGGCGGGGGCT	0.612												
MORC4	79710	broad.mit.edu	37	X	106184843	106184843	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:106184843G>A	uc004emu.3	-	17	2923	c.2680C>T	c.(2680-2682)CGG>TGG	p.R894W	MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Missense_Mutation_p.A881V|MORC4_uc004emw.3_Missense_Mutation_p.A629V	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	zinc finger, CW type with coiled-coil domain 2	894							ATP binding|zinc ion binding			ovary(1)	1						ATACGTAGCCGCGTAAGCTTT	0.478												
COL4A5	1287	broad.mit.edu	37	X	107866040	107866040	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:107866040G>A	uc004enz.1	+	33	3104	c.2902G>A	c.(2902-2904)GAA>AAA	p.E968K	COL4A5_uc011mso.1_Missense_Mutation_p.E968K|COL4A5_uc004eob.1_Missense_Mutation_p.E576K	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	968	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						AGAGAAGGGGGAACCTGGCTT	0.403									Alport_syndrome_with_Diffuse_Leiomyomatosis			
IRS4	8471	broad.mit.edu	37	X	107976205	107976205	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:107976205C>T	uc004eoc.2	-	1	3403	c.3370G>A	c.(3370-3372)GCA>ACA	p.A1124T		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	1124	Ala-rich.					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						GTCGGCTCTGCAGCCGAAGCG	0.632												
IRS4	8471	broad.mit.edu	37	X	107979509	107979509	+	Silent	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:107979509T>C	uc004eoc.2	-	1	99	c.66A>G	c.(64-66)GCA>GCG	p.A22A		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	22	Poly-Ala.					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						GAGCTGCCGCTGCCGCCGCTG	0.617												
RGAG1	57529	broad.mit.edu	37	X	109694908	109694908	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:109694908C>A	uc004eor.1	+	3	1309	c.1063C>A	c.(1063-1065)CCC>ACC	p.P355T	RGAG1_uc011msr.1_Missense_Mutation_p.P355T	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	355								p.P355H(1)		lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						GACGGCCCTACCCTCTGGAGT	0.537												
DCX	1641	broad.mit.edu	37	X	110653321	110653321	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:110653321A>G	uc004epd.2	-	2	721	c.549T>C	c.(547-549)CGT>CGC	p.R183R	DCX_uc011msv.1_Silent_p.R183R|DCX_uc004epe.2_Silent_p.R102R|DCX_uc004epf.2_Silent_p.R102R|DCX_uc004epg.2_Silent_p.R102R	NM_000555	NP_000546	O43602	DCX_HUMAN	doublecortin isoform a	183	Doublecortin 1.		R -> S (in LISX1).		axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			central_nervous_system(2)|lung(1)|skin(1)	4						TGTAAATGTAACGCACTCCCT	0.522												
IL13RA1	3597	broad.mit.edu	37	X	117907898	117907898	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:117907898G>A	uc004eqs.2	+	9	1109	c.1066G>A	c.(1066-1068)GTC>ATC	p.V356I	IL13RA1_uc004eqt.1_Missense_Mutation_p.V356I	NM_001560	NP_001551	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1 precursor	356	Helical; (Potential).					interleukin-13 receptor complex	cytokine receptor activity				0						TCCAGTCATCGTCGCAGGTGC	0.423												
KIAA1210	57481	broad.mit.edu	37	X	118222607	118222607	+	Silent	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:118222607A>G	uc004era.3	-	11	2586	c.2586T>C	c.(2584-2586)ACT>ACC	p.T862T		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	862										ovary(4)|skin(1)	5						AATCATCAGAAGTGTTGTACT	0.498												
SLC25A43	203427	broad.mit.edu	37	X	118586945	118586945	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:118586945C>T	uc004erd.2	+	5	1287	c.943C>T	c.(943-945)CAG>TAG	p.Q315*	SLC25A43_uc011mtt.1_3'UTR	NM_145305	NP_660348	Q8WUT9	S2543_HUMAN	mitochondrial solute carrier protein	315					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			skin(1)	1						AGGAGTCGATCAGAGTTTGCA	0.378												
SLC25A5	292	broad.mit.edu	37	X	118603924	118603924	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:118603924C>T	uc004erh.3	+	2	528	c.412C>T	c.(412-414)CGT>TGT	p.R138C	LOC100303728_uc004ere.1_5'Flank|LOC100303728_uc004erg.1_5'Flank	NM_001152	NP_001143	P05141	ADT2_HUMAN	adenine nucleotide translocator 2	138	Solcar 2.|Helical; Name=3; (By similarity).				chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding			ovary(1)	1					Clodronate(DB00720)	TGATTTTGCCCGTACCCGTCT	0.522												
GRIA3	2892	broad.mit.edu	37	X	122538696	122538696	+	Silent	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:122538696C>T	uc004etq.3	+	11	1724	c.1431C>T	c.(1429-1431)GAC>GAT	p.D477D	GRIA3_uc004etr.3_Silent_p.D477D|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Silent_p.D461D	NM_007325	NP_015564	P42263	GRIA3_HUMAN	glutamate receptor, ionotrophic, AMPA 3 isoform	477	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5					L-Glutamic Acid(DB00142)	TCGTTGGTGACGGGAAATATG	0.398												
DCAF12L2	340578	broad.mit.edu	37	X	125299634	125299634	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:125299634G>T	uc004euk.1	-	1	301	c.274C>A	c.(274-276)CTG>ATG	p.L92M		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	92										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						CCCAGGTCCAGCTGGCGCTCC	0.677												
DCAF12L1	139170	broad.mit.edu	37	X	125686437	125686437	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:125686437G>A	uc004eul.2	-	1	406	c.155C>T	c.(154-156)GCG>GTG	p.A52V		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	52										skin(3)|ovary(1)	4						CAGATAGTGCGCCATCGAGCG	0.711												
IGSF1	3547	broad.mit.edu	37	X	130412510	130412510	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:130412510C>T	uc004ewd.2	-	12	2204	c.1966G>A	c.(1966-1968)GGG>AGG	p.G656R	IGSF1_uc004ewe.3_Missense_Mutation_p.G650R|IGSF1_uc004ewf.2_Missense_Mutation_p.G636R	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	656	Extracellular (Potential).|Ig-like C2-type 6.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						TGGTAGCTCCCGGTGTGGCTC	0.632												
GPR112	139378	broad.mit.edu	37	X	135390962	135390962	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:135390962A>C	uc004ezu.1	+	4	317	c.26A>C	c.(25-27)AAG>ACG	p.K9T	GPR112_uc010nsb.1_Missense_Mutation_p.K9T	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	9					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					ATATATCAGAAGCTTTATGGA	0.308												
BRS3	680	broad.mit.edu	37	X	135574170	135574170	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:135574170T>A	uc004ezv.1	+	3	985	c.836T>A	c.(835-837)CTG>CAG	p.L279Q		NM_001727	NP_001718	P32247	BRS3_HUMAN	bombesin-like receptor 3	279	Helical; Name=6; (Potential).				adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					TTGGTGGCTCTGTTTGCCCTC	0.393												
ATP11C	286410	broad.mit.edu	37	X	138864718	138864718	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:138864718G>A	uc004faz.2	-	18	2048	c.1949C>T	c.(1948-1950)GCA>GTA	p.A650V	ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.A650V	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	650	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)					GTCTTCAACTGCAGTGGCTCC	0.348												
MAGEC3	139081	broad.mit.edu	37	X	140985571	140985571	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:140985571G>A	uc011mwp.1	+	8	1885	c.1885G>A	c.(1885-1887)GCC>ACC	p.A629T	MAGEC3_uc004fbs.2_3'UTR|MAGEC3_uc010nsj.2_3'UTR	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	629	MAGE 2.									skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TACTGCCATGGCCAGTGCAAG	0.507												
SLITRK2	84631	broad.mit.edu	37	X	144905442	144905442	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:144905442A>G	uc004fcd.2	+	5	2489	c.1499A>G	c.(1498-1500)AAT>AGT	p.N500S	SLITRK2_uc010nsp.2_Missense_Mutation_p.N500S|SLITRK2_uc010nso.2_Missense_Mutation_p.N500S|SLITRK2_uc011mwq.1_Missense_Mutation_p.N500S|SLITRK2_uc011mwr.1_Missense_Mutation_p.N500S|SLITRK2_uc011mws.1_Missense_Mutation_p.N500S|SLITRK2_uc004fcg.2_Missense_Mutation_p.N500S|SLITRK2_uc011mwt.1_Missense_Mutation_p.N500S	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	500	Extracellular (Potential).|LRR 12.					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					ACCAGGCTGAATCTGAGAAAC	0.478												
AFF2	2334	broad.mit.edu	37	X	148049194	148049194	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:148049194A>C	uc004fcp.2	+	15	3718	c.3239A>C	c.(3238-3240)AAG>ACG	p.K1080T	AFF2_uc004fcq.2_Missense_Mutation_p.K1070T|AFF2_uc004fcr.2_Missense_Mutation_p.K1041T|AFF2_uc011mxb.1_Missense_Mutation_p.K1045T|AFF2_uc004fcs.2_Missense_Mutation_p.K1045T|AFF2_uc011mxc.1_Missense_Mutation_p.K721T	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	1080					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGAAGCTAAGAAGCTGAAG	0.343												
MAGEA12	4111	broad.mit.edu	37	X	151900176	151900176	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:151900176T>C	uc010ntp.2	-	3	979	c.625A>G	c.(625-627)ATC>GTC	p.I209V	MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Missense_Mutation_p.I209V	NM_005367	NP_005358	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	209	MAGE.									skin(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTTTGCGATTATGGCCAGG	0.572												
ATP2B3	492	broad.mit.edu	37	X	152818575	152818575	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:152818575G>A	uc004fht.1	+	11	2032	c.1906G>A	c.(1906-1908)GAG>AAG	p.E636K	ATP2B3_uc004fhs.1_Missense_Mutation_p.E636K	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	636	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAAGATCATCGAGCCGATGGC	0.627												
ABCD1	215	broad.mit.edu	37	X	153006123	153006123	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:153006123A>G	uc004fif.2	+	7	2129	c.1730A>G	c.(1729-1731)GAA>GGA	p.E577G	ABCD1_uc004fig.2_Missense_Mutation_p.E77G|ABCD1_uc004fih.2_5'Flank	NM_000033	NP_000024	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member	577	ABC transporter.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity				0	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGACCTGGAAGCCATCCTG	0.642												
PLXNB3	5365	broad.mit.edu	37	X	153038720	153038720	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:153038720G>A	uc004fii.2	+	18	3116	c.2942G>A	c.(2941-2943)CGT>CAT	p.R981H	PLXNB3_uc010nuk.2_Missense_Mutation_p.R1004H|PLXNB3_uc011mzd.1_Missense_Mutation_p.R620H|PLXNB3_uc004fij.1_5'Flank	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	981	IPT/TIG 2.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					ATCGTGTGCCGTACCAGGCCC	0.667												
HCFC1	3054	broad.mit.edu	37	X	153225829	153225829	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:153225829A>G	uc004fjp.2	-	7	1469	c.941T>C	c.(940-942)CTG>CCG	p.L314P		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	314					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)					GTTGTCCTCCAGTGTATCCAT	0.632												
IRAK1	3654	broad.mit.edu	37	X	153281508	153281508	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:153281508G>A	uc004fjs.1	-	10	1356	c.1277C>T	c.(1276-1278)ACG>ATG	p.T426M	IRAK1_uc004fjr.1_Missense_Mutation_p.T426M|IRAK1_uc004fjt.1_Missense_Mutation_p.T426M|IRAK1_uc010nur.2_Intron|IRAK1_uc004fju.2_Missense_Mutation_p.T452M	NM_001569	NP_001560	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	426	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			lung(5)|ovary(2)|breast(1)|central_nervous_system(1)	9	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCACCGTGCGTCTTCACAGC	0.642												
TKTL1	8277	broad.mit.edu	37	X	153539311	153539311	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:153539311G>T	uc004fkg.2	+	4	661	c.475G>T	c.(475-477)GGA>TGA	p.G159*	TKTL1_uc011mzl.1_Nonsense_Mutation_p.G153*|TKTL1_uc011mzm.1_Intron|TKTL1_uc004fkh.2_Nonsense_Mutation_p.G103*	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	159					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)|skin(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAACCGCCTGGGACACAGTGG	0.512												
RAB39B	116442	broad.mit.edu	37	X	154490316	154490316	+	Silent	SNP	G	G	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:154490316G>T	uc004fne.2	-	2	693	c.414C>A	c.(412-414)GCC>GCA	p.A138A		NM_171998	NP_741995	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	138					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAGTTTCTCGGCCTCGTGGC	0.488												
RAB39B	116442	broad.mit.edu	37	X	154493486	154493486	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:154493486C>T	uc004fne.2	-	1	367	c.88G>A	c.(88-90)GAG>AAG	p.E30K		NM_171998	NP_741995	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	30					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AAGCGACCCTCGGTGAAGCGG	0.602												
SHMT1	6470	broad.mit.edu	37	17	18259316	18259317	+	Splice_Site	INS	-	-	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:18259316_18259317insA	uc002gta.2	-	2	172	c.-18_splice	c.e2-1		SHMT1_uc002gtb.2_Splice_Site|SHMT1_uc010cqb.2_Splice_Site|SHMT1_uc010vxt.1_Splice_Site|SHMT1_uc002gtd.1_Splice_Site|SHMT1_uc010vxu.1_Splice_Site	NM_004169	NP_004160	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)						carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			ovary(1)	1					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CGAAGCTGCCTAAAAAAATGGG	0.337												
TNFRSF9	3604	broad.mit.edu	37	1	7998254	7998254	+	Splice_Site	DEL	T	T	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:7998253_7998253CT>C	uc001aot.3	-	5	607	c.346_splice	c.e5+1	p.G116_splice		NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.	116					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	p.G116S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GCAAACGTACCTTTTTTTGTC	0.408												
PSME4	23198	broad.mit.edu	37	2	54167140	54167140	+	Splice_Site	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAA	0.348												
UGP2	7360	broad.mit.edu	37	2	64109785	64109788	+	Splice_Site	DEL	AGTG	AGTG	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:64109784_64109787AAGTG>A	uc010ypx.2	+	4	475	c.468_splice	c.e4+1	p.E156_splice	UGP2_uc002scl.3_Splice_Site_p.E136_splice|UGP2_uc002scm.3_Splice_Site_p.E147_splice	NM_001001521	NP_001001521	Q16851	UGPA_HUMAN	Homo sapiens UDP-glucose pyrophosphorylase 2 (UGP2), transcript variant 2, mRNA.	147					UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|glycogen biosynthetic process|phosphorylation|xenobiotic metabolic process	cytosol	UTP:glucose-1-phosphate uridylyltransferase activity|metal ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						CAGCAAATTGAAGTGAGTAACATT	0.363												
ECEL1	9427	broad.mit.edu	37	2	233349513	233349513	+	Splice_Site	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:233349512_233349512TG>T	uc002vsv.2	-	5	1264	c.1059_splice	c.e5+1	p.H353_splice	ECEL1_uc010fya.1_Splice_Site_p.H353_splice|ECEL1_uc010fyb.1_Splice_Site_p.H60_splice	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	353					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CACACTCACGTGGGGGGTGAT	0.597												
ANKRD28	23243	broad.mit.edu	37	3	15756166	15756166	+	Splice_Site	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:15756165_15756165TG>T	uc003caj.1	-	9	1050	c.907_splice	c.e9-1	p.S303_splice	ANKRD28_uc003cai.1_Splice_Site_p.S149_splice|ANKRD28_uc011avz.1_Splice_Site_p.S149_splice|ANKRD28_uc003cak.1_Splice_Site|ANKRD28_uc011awa.1_Splice_Site|ANKRD28_uc003cal.1_Splice_Site_p.S333_splice|ANKRD28_uc003cam.2_Splice_Site_p.S336_splice	NM_015199	NP_001182028	O15084	ANR28_HUMAN	Homo sapiens ankyrin repeat domain 28 (ANKRD28), transcript variant 1, mRNA.	303						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						ATCTTTACTCTGGGGGGGGAA	0.363												
C6orf170	221322	broad.mit.edu	37	6	121560337	121560337	+	Splice_Site	DEL	A	A	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:121560336_121560336TA>T	uc003pyo.1	-	20	2314	c.2246_splice	c.e20-1	p.G749_splice	C6orf170_uc003pyq.1_Splice_Site|C6orf170_uc010kej.1_5'Flank|C6orf170_uc003pyp.1_Splice_Site_p.G268_splice	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	749					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		TAATAAACCCTAAAAAGAATT	0.343												
KIF13B	23303	broad.mit.edu	37	8	29043992	29043992	+	Splice_Site	DEL	A	A	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:29043991_29043991TA>T	uc003xhh.4	-	6	376	c.317_splice	c.e6-1	p.G106_splice	KIF13B_uc003xhj.2_Splice_Site_p.G3_splice|KIF13B_uc010lvf.1_Splice_Site_p.G42_splice	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	106	Kinesin-motor.				T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TTCCAGAGCCTAAAAAAATGG	0.393												
DIP2C	22982	broad.mit.edu	37	10	395273	395273	+	Splice_Site	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:395272_395272TG>T	uc001ifp.3	-	25	3199	c.3109_splice	c.e25+1	p.G1037_splice	DIP2C_uc009xhi.1_Splice_Site_p.G423_splice	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	1037						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGCCTGTACCTGGGGGGTAGA	0.667												
DDX6	1656	broad.mit.edu	37	11	118629614	118629615	+	Splice_Site	INS	-	-	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:118629613_118629614T>TG	uc001pub.2	-	9	1226	c.865_splice	c.e9-1	p.N289_splice	DDX6_uc001pua.2_5'UTR|DDX6_uc001puc.2_Splice_Site_p.N289_splice	NM_004397	NP_004388	P26196	DDX6_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.	289	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL							
LECT1	11061	broad.mit.edu	37	13	53313766	53313766	+	Splice_Site	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:53313765_53313765CG>C	uc001vhf.2	-	1	183	c.72_splice	c.e1+1	p.P24_splice	LECT1_uc001vhg.2_Splice_Site_p.P24_splice|LECT1_uc001vhh.2_Splice_Site_p.P51_splice	NM_007015	NP_008946	O75829	LECT1_HUMAN	Homo sapiens leukocyte cell derived chemotaxin 1 (LECT1), transcript variant 1, mRNA.	24					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		CGGTACTCACCGGGGGGCTGC	0.597												
SOS2	6655	broad.mit.edu	37	14	50606661	50606662	+	Splice_Site	INS	-	-	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:50606660_50606661C>CA	uc001wxs.4	-	17	2883	c.2785_splice	c.e17+1	p.G929_splice	SOS2_uc010tql.2_Splice_Site_p.G896_splice|SOS2_uc010tqm.1_Splice_Site	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	929	Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					AGTAACTTACCAAAAAAAGGCA	0.342												
LGMN	5641	broad.mit.edu	37	14	93170987	93170987	+	Splice_Site	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:93170986_93170986TG>T	uc001yav.3	-	14	1620	c.1259_splice	c.e14+1	p.R420_splice	LGMN_uc001yat.3_Splice_Site_p.R363_splice|LGMN_uc001yau.3_Intron|LGMN_uc001yaw.3_Splice_Site_p.R420_splice	NM_001008530	NP_005597	Q99538	LGMN_HUMAN	Homo sapiens legumain (LGMN), transcript variant 2, mRNA.	420					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		ATTAGTTACCTGTGAAGCGGA	0.483												
PIGB	9488	broad.mit.edu	37	15	55621922	55621922	+	Splice_Site	DEL	T	T	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:55621921_55621921GT>G	uc002act.3	+	5	839	c.523_splice	c.e5-1	p.F175_splice	PIGB_uc010ugg.2_Splice_Site	NM_004855	NP_004846	Q92521	PIGB_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class B (PIGB), mRNA.	175					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CTTTTTCTTAGTTTTTTTGCC	0.343												
MSLN	10232	broad.mit.edu	37	16	815527	815527	+	Splice_Site	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:815526_815526GC>G	uc002cjw.2	+	9	816	c.705_splice	c.e9-1	p.G235_splice	MSLN_uc002cju.1_Splice_Site_p.G235_splice|MSLN_uc002cjt.1_Splice_Site_p.G235_splice|MSLN_uc010brd.1_Splice_Site_p.G234_splice|MSLN_uc002cjy.1_5'Flank	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	235					cell adhesion	Golgi apparatus|anchored to membrane|extracellular region|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				TGTCTGCACAGCCCCCCGTCG	0.706												
CSNK2A2	1459	broad.mit.edu	37	16	58202515	58202515	+	Splice_Site	DEL	T	T	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:58202514_58202514CT>C	uc002enc.3	-	6	655	c.513_splice	c.e6+1	p.K171_splice		NM_001896	NP_001887	P19784	CSK22_HUMAN	Homo sapiens casein kinase 2, alpha prime polypeptide (CSNK2A2), mRNA.	171	Protein kinase.				Wnt receptor signaling pathway|axon guidance	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						GTAATGGTACCTTTTTCTGTT	0.463												
SHMT1	6470	broad.mit.edu	37	17	18259317	18259318	+	Splice_Site	INS	-	-	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:18259316_18259317T>TA	uc002gta.3	-	2	172	c.-18_splice	c.e2-1		SHMT1_uc002gtb.3_Splice_Site|SHMT1_uc010vxt.2_Splice_Site|SHMT1_uc002gtd.1_Splice_Site|SHMT1_uc010vxu.1_Splice_Site	NM_004169	NP_004160	P34896	GLYC_HUMAN	Homo sapiens serine hydroxymethyltransferase 1 (soluble) (SHMT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.						L-serine catabolic process|carnitine biosynthetic process|folic acid metabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CGAAGCTGCCTAAAAAAATGGG	0.406												
TAC4	255061	broad.mit.edu	37	17	47918915	47918915	+	Splice_Site	DEL	T	T	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:47918914_47918914CT>C	uc002ipo.1	-	3	250	c.250_splice	c.e3+1	p.A84_splice	TAC4_uc002ipp.1_Splice_Site_p.A78_splice|TAC4_uc002ipq.1_Splice_Site_p.G78_splice|TAC4_uc002ipr.1_Intron|TAC4_uc002ips.1_Intron	NM_170685	NP_733786	Q86UU9	TKN4_HUMAN	Homo sapiens tachykinin 4 (hemokinin) (TAC4), transcript variant alpha, mRNA.	84					regulation of blood pressure	extracellular region				breast(1)|large_intestine(1)|lung(3)	5						CAATACTTACCTTTTTTTCTC	0.552												
ZC3H12A	80149	broad.mit.edu	37	1	37947230	37947231	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:37947230_37947231insA	uc001cbb.3	+	4	762_763	c.612_613insA	c.(610-615)AAGAAGfs	p.K204fs	ZC3H12A_uc001cbc.1_5'UTR	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	204_205					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AACTGGAGAAGAAGAAGATCCT	0.604												
ZC3H12A	80149	broad.mit.edu	37	1	37948555	37948555	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:37948555delG	uc001cbb.3	+	6	1293	c.1143delG	c.(1141-1143)CTGfs	p.L381fs	ZC3H12A_uc001cbc.1_Frame_Shift_Del_p.L176fs	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	381					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGAAGAAGCTGGGGGCCCAGG	0.627												
LARP4B	23185	broad.mit.edu	37	10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:890939delT	uc001ifs.1	-	5	528	c.487delA	c.(487-489)ACAfs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	163	HTH La-type RNA-binding.						nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						AATTCCAATGTTTTTTTAAGT	0.353												
SVIL	6840	broad.mit.edu	37	10	29762771	29762772	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:29762771_29762772insC	uc001iut.1	-	30	6277_6278	c.5524_5525insG	c.(5524-5526)GCCfs	p.A1842fs	LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Frame_Shift_Ins_p.A756fs|SVIL_uc001iuu.1_Frame_Shift_Ins_p.A1416fs	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1842	Gelsolin-like 3.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				ACTCACCTGGGCCCCCCTTTCC	0.639												
CCDC38	120935	broad.mit.edu	37	12	96260859	96260860	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:96260859_96260860insA	uc001tek.1	-	16	1920_1921	c.1686_1687insT	c.(1684-1689)TTTACTfs	p.F562fs		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	562_563										skin(1)	1						TTTATTCAAGTAAAAAAATATT	0.287												
MYCBP2	23077	broad.mit.edu	37	13	77671669	77671669	+	Frame_Shift_Del	DEL	T	T	-	rs149154232		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:77671669delT	uc001vkf.2	-	57	9597	c.9506delA	c.(9505-9507)AAGfs	p.K3169fs	MYCBP2_uc010aev.2_Frame_Shift_Del_p.K2573fs|MYCBP2_uc001vkg.1_Frame_Shift_Del_p.K692fs	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3169	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ctttttttcctttttggactt	0.313												
SOS2	6655	broad.mit.edu	37	14	50606660	50606661	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:50606660_50606661insA	uc001wxs.3	-	17	2882_2883	c.2784_2785insT	c.(2782-2787)TTTGGAfs	p.F928fs	SOS2_uc010tql.1_Frame_Shift_Ins_p.F895fs|SOS2_uc010tqm.1_RNA	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	928_929	Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					AGTAACTTACCAAAAAAAGGCA	0.188												
SLC30A4	7782	broad.mit.edu	37	15	45814242	45814243	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:45814242_45814243insTC	uc001zvj.2	-	2	622_623	c.310_311insGA	c.(310-312)ATAfs	p.I104fs	C15orf21_uc010beg.1_Intron|C15orf21_uc010beh.1_Intron|C15orf21_uc010bei.1_Intron|C15orf21_uc010bej.1_Intron|C15orf21_uc001zvm.1_Intron|C15orf21_uc001zvn.1_Intron	NM_013309	NP_037441	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter),	104	Cytoplasmic (Potential).				regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity				0		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		CTGCTTCAGTATCTCTCTCTGT	0.475												
GLDN	342035	broad.mit.edu	37	15	51692688	51692688	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:51692688delT	uc002aba.2	+	8	1189	c.1020delT	c.(1018-1020)CATfs	p.H340fs	GLDN_uc002abb.2_Frame_Shift_Del_p.H216fs	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	gliomedin	340	Extracellular (Potential).|Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				ovary(2)	2				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TGACAGAGCATTTTTCAGGTA	0.448												
IGDCC4	57722	broad.mit.edu	37	15	65678319	65678319	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:65678319delG	uc002aou.1	-	18	3240	c.3030delC	c.(3028-3030)CCCfs	p.P1010fs	IGDCC4_uc002aot.1_Frame_Shift_Del_p.P598fs	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	1010	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)|pancreas(1)|skin(1)	3						CTGGGGGGCTGGGGGGGCCAA	0.662											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DENND4A	10260	broad.mit.edu	37	15	66030118	66030119	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:66030118_66030119insA	uc002aph.2	-	7	1344_1345	c.966_967insT	c.(964-969)TTTGATfs	p.F322fs	DENND4A_uc002api.2_Frame_Shift_Ins_p.F322fs|DENND4A_uc002apj.3_Frame_Shift_Ins_p.F322fs|DENND4A_uc010ujj.1_Frame_Shift_Ins_p.F322fs	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	322_323	DENN.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						CTGAATGCATCAAAAAAAGGCC	0.381												
ARHGAP17	55114	broad.mit.edu	37	16	24950745	24950745	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:24950745delC	uc002dnb.2	-	17	1757	c.1664delG	c.(1663-1665)GGTfs	p.G555fs	ARHGAP17_uc002dmy.2_5'Flank|ARHGAP17_uc002dmz.2_Frame_Shift_Del_p.G79fs|ARHGAP17_uc002dna.2_Frame_Shift_Del_p.G282fs|ARHGAP17_uc002dnc.2_Intron|ARHGAP17_uc010vcf.1_Intron	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	nadrin isoform 1	555	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)		GACAGTCCCACCCCCAGAGCT	0.687												
FUK	197258	broad.mit.edu	37	16	70513191	70513191	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:70513191delC	uc002eyy.2	+	23	3096	c.3038delC	c.(3037-3039)GCCfs	p.A1013fs	FUK_uc010cft.2_Frame_Shift_Del_p.A1019fs|FUK_uc002eyz.2_Frame_Shift_Del_p.A504fs	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	fucokinase	1013						cytoplasm	ATP binding|fucokinase activity			ovary(1)	1		Ovarian(137;0.0694)				GATGTCCTGGCCCCCCACGTG	0.632												
SHMT1	6470	broad.mit.edu	37	17	18259316	18259317	+	Splice_Site	INS	-	-	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:18259316_18259317insA	uc002gta.2	-	2	172	c.-18_splice	c.e2-1		SHMT1_uc002gtb.2_Splice_Site|SHMT1_uc010cqb.2_Splice_Site|SHMT1_uc010vxt.1_Splice_Site|SHMT1_uc002gtd.1_Splice_Site|SHMT1_uc010vxu.1_Splice_Site	NM_004169	NP_004160	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)						carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			ovary(1)	1					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CGAAGCTGCCTAAAAAAATGGG	0.337												
KRT16	3868	broad.mit.edu	37	17	39768744	39768744	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:39768744delC	uc002hxg.3	-	1	336	c.197delG	c.(196-198)GGCfs	p.G66fs	JUP_uc010wfs.1_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	keratin 16	66	Head.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			skin(1)	1		Breast(137;0.000307)				GCCATAGCCGCCCCCCAGCCC	0.488												
SLC4A1	6521	broad.mit.edu	37	17	42337271	42337271	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:42337271delC	uc002igf.3	-	7	664	c.515delG	c.(514-516)GGTfs	p.G172fs	SLC4A1_uc002igg.3_Frame_Shift_Del_p.G172fs	NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	172	Cytoplasmic.				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)		AGGCTTCACACCCCCCAGGGC	0.602												
SMCHD1	23347	broad.mit.edu	37	18	2706440	2706440	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:2706440delA	uc002klm.3	+	15	2224	c.2035delA	c.(2035-2037)AAAfs	p.K679fs	SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	679					chromosome organization		ATP binding				0						GAAAGCTGTTAAAAAATATGT	0.353												
DAPK3	1613	broad.mit.edu	37	19	3959269	3959271	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:3959269_3959271delCCT	uc002lzc.1	-	8	1286_1288	c.1193_1195delAGG	c.(1192-1197)GAGGCC>GCC	p.E398del	DAPK3_uc002lzb.1_In_Frame_Del_p.E135del|DAPK3_uc002lzd.1_In_Frame_Del_p.E398del	NM_001348	NP_001339	O43293	DAPK3_HUMAN	death-associated protein kinase 3	398	Interaction with CDC5L (By similarity).				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCCCTTGGCCTCCTCCTGCGC	0.704												
MAP2K7	5609	broad.mit.edu	37	19	7975006	7975006	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:7975006delG	uc002mit.2	+	3	390	c.325delG	c.(325-327)GGGfs	p.G109fs	MAP2K7_uc002miv.2_Frame_Shift_Del_p.G109fs|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Frame_Shift_Del_p.G109fs|MAP2K7_uc010dvv.2_5'UTR	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	109					activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	CCTGACCATCGGGGGCCAGGT	0.667												
AXL	558	broad.mit.edu	37	19	41743896	41743896	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:41743896delC	uc010ehj.2	+	7	1021	c.831delC	c.(829-831)GACfs	p.D277fs	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Frame_Shift_Del_p.D277fs|AXL_uc010ehk.2_Frame_Shift_Del_p.D277fs	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	277	Extracellular (Potential).|Fibronectin type-III 1.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						GAGAACCAGACCCCCCAGAGG	0.622												
RAD51AP2	729475	broad.mit.edu	37	2	17698737	17698737	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:17698737delT	uc002rcl.1	-	1	970	c.946delA	c.(946-948)ACTfs	p.T316fs	RAD51AP2_uc010exn.1_Frame_Shift_Del_p.T307fs	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	316										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCTTCTACAGTTTTTTTATCA	0.328												
CLIP4	79745	broad.mit.edu	37	2	29379233	29379233	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:29379233delA	uc002rmv.2	+	10	1418	c.1179delA	c.(1177-1179)TCAfs	p.S393fs	CLIP4_uc002rmu.2_Frame_Shift_Del_p.S393fs|CLIP4_uc010ezm.1_Frame_Shift_Del_p.S393fs|CLIP4_uc002rmw.2_RNA|CLIP4_uc010ymn.1_Frame_Shift_Del_p.S375fs	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	393										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					TAATGACATCAAAAAAAGATA	0.274												
TET3	200424	broad.mit.edu	37	2	74275076	74275076	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:74275076delC	uc002skb.3	+	1	1627	c.1627delC	c.(1627-1629)CCCfs	p.P543fs	TET3_uc010fez.1_Frame_Shift_Del_p.P543fs	NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	543							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						CAGCCTGCTGCCCCCTACTCA	0.637												
CAPN10	11132	broad.mit.edu	37	2	241533462	241533462	+	Frame_Shift_Del	DEL	G	G	-	rs150113284	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:241533462delG	uc002vzk.1	+	5	1012	c.828delG	c.(826-828)GAGfs	p.E276fs	CAPN10_uc010zoh.1_Frame_Shift_Del_p.E276fs|CAPN10_uc002vzl.1_Frame_Shift_Del_p.E276fs|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Frame_Shift_Del_p.E148fs|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_RNA|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10 isoform a	276	Calpain catalytic.		E -> G (in a colorectal cancer sample; somatic mutation).		actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	p.E276G(1)|p.E276fs*3(1)		ovary(3)|large_intestine(2)|lung(1)	6		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TCTGGAGAGAGGGGTGAGTGC	0.687												
SNPH	9751	broad.mit.edu	37	20	1286385	1286386	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:1286385_1286386insC	uc002wes.2	+	6	1408_1409	c.1172_1173insC	c.(1171-1173)AACfs	p.N391fs	SNPH_uc002wet.2_Frame_Shift_Ins_p.N435fs	NM_014723	NP_055538	O15079	SNPH_HUMAN	syntaphilin	391					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			ovary(2)	2						CCTGGTGCCAACCCCAACCCTG	0.658												
PLA1A	51365	broad.mit.edu	37	3	119316796	119316796	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:119316796delG	uc003ecu.2	+	1	75	c.36delG	c.(34-36)GTGfs	p.V12fs	PLA1A_uc003ecv.2_Frame_Shift_Del_p.V12fs|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_5'UTR	NM_015900	NP_056984	Q53H76	PLA1A_HUMAN	phospholipase A1 member A precursor	12					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						GCTTCTGGGTGGGGGGCCTCA	0.512												
POLQ	10721	broad.mit.edu	37	3	121207489	121207489	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:121207489delA	uc003eee.3	-	16	4418	c.4289delT	c.(4288-4290)TTAfs	p.L1430fs	POLQ_uc003eed.2_Frame_Shift_Del_p.L602fs	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1430					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		ATTCTTTTTTAAAAAAAGACC	0.338								DNA_polymerases_(catalytic_subunits)				
DIRC2	84925	broad.mit.edu	37	3	122591386	122591386	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:122591386delT	uc003efw.3	+	8	1402	c.1263delT	c.(1261-1263)ACTfs	p.T421fs	DIRC2_uc010hrl.2_RNA|DIRC2_uc010hrm.2_Frame_Shift_Del_p.T259fs	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	421	Helical; (Potential).				transport	integral to membrane					0				GBM - Glioblastoma multiforme(114;0.0614)		GAGTTGTCACTTTTTTAAGTA	0.318												
ZDHHC19	131540	broad.mit.edu	37	3	195925221	195925221	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:195925221delG	uc003fwc.2	-	7	989	c.875delC	c.(874-876)CCAfs	p.P292fs	ZDHHC19_uc010hzz.2_RNA|ZDHHC19_uc010iaa.2_RNA|ZDHHC19_uc010iab.2_Intron	NM_001039617	NP_001034706	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC domain containing 19	292						integral to membrane	acyltransferase activity|zinc ion binding			ovary(3)	3	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)		GGTTGGGGCTGGGGGGTTGAG	0.627												
LIMCH1	22998	broad.mit.edu	37	4	41621389	41621390	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:41621389_41621390delAG	uc003gvu.3	+	8	921_922	c.867_868delAG	c.(865-870)GCAGAGfs	p.A289fs	LIMCH1_uc003gvt.1_Frame_Shift_Del_p.A130fs|LIMCH1_uc003gvv.3_Frame_Shift_Del_p.A289fs|LIMCH1_uc003gvw.3_Frame_Shift_Del_p.A289fs|LIMCH1_uc003gvx.3_Frame_Shift_Del_p.A289fs|LIMCH1_uc003gwe.3_Frame_Shift_Del_p.A289fs|LIMCH1_uc003gvy.3_Frame_Shift_Del_p.A130fs|LIMCH1_uc003gwa.3_Frame_Shift_Del_p.A130fs|LIMCH1_uc003gvz.3_Frame_Shift_Del_p.A130fs|LIMCH1_uc011byu.1_Frame_Shift_Del_p.A135fs|LIMCH1_uc003gwc.3_Frame_Shift_Del_p.A135fs|LIMCH1_uc003gwd.3_Frame_Shift_Del_p.A135fs|LIMCH1_uc011byv.1_Frame_Shift_Del_p.A40fs|LIMCH1_uc003gwb.1_Frame_Shift_Del_p.A137fs	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1 isoform a	289_290					actomyosin structure organization		actin binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						AGAAGAAAGCAGAGAGAGAGGA	0.594												
DDX60L	91351	broad.mit.edu	37	4	169341447	169341448	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:169341447_169341448insA	uc003irq.3	-	18	2699_2700	c.2478_2479insT	c.(2476-2481)TTTACAfs	p.F826fs	DDX60L_uc003irr.1_Frame_Shift_Ins_p.F826fs|DDX60L_uc003irs.1_Frame_Shift_Ins_p.F553fs	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	826_827	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TAATCTCTTGTAAAAGCACCGC	0.356												
FAM149A	25854	broad.mit.edu	37	4	187077174	187077174	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:187077174delA	uc003iyt.3	+	7	983	c.404delA	c.(403-405)CAAfs	p.Q135fs	FAM149A_uc011cla.1_Frame_Shift_Del_p.Q135fs|FAM149A_uc010isj.2_Frame_Shift_Del_p.Q135fs|FAM149A_uc010isk.2_RNA|FAM149A_uc003iyu.3_Frame_Shift_Del_p.Q135fs|FAM149A_uc010isl.2_Frame_Shift_Del_p.Q135fs|FAM149A_uc011clb.1_Frame_Shift_Del_p.Q135fs	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	hypothetical protein LOC25854	426										breast(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		TGTCTTGAACAAAAACCAGCT	0.418												
GPSM3	63940	broad.mit.edu	37	6	32159189	32159189	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:32159189delC	uc003oay.3	-	4	830	c.437delG	c.(436-438)GGTfs	p.G146fs	PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.2_5'Flank|GPSM3_uc003oax.3_Frame_Shift_Del_p.G123fs|GPSM3_uc003oaz.2_Frame_Shift_Del_p.G146fs	NM_022107	NP_071390	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3 (AGS3-like, C.	146	GoLoco 3.				signal transduction	cytoplasm	GTPase activator activity|protein binding				0						CTCCATTCGACCCCCACCCTG	0.652												
CDC5L	988	broad.mit.edu	37	6	44374080	44374081	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:44374080_44374081insA	uc003oxl.2	+	7	1038_1039	c.779_780insA	c.(778-780)AGAfs	p.R260fs		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	260	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGAAGAGATAGAAAAAAAGACA	0.297												
MOXD1	26002	broad.mit.edu	37	6	132722507	132722507	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:132722507delC	uc003qdf.2	-	1	158	c.59delG	c.(58-60)GGCfs	p.G20fs		NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1 isoform 2	20	Lumenal (Potential).				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			ovary(1)	1	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TCGGCCCGAGCCCCCCGCCGC	0.746												
TNFRSF9	3604	broad.mit.edu	37	1	7998254	7998254	+	Splice_Site	DEL	T	T	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:7998253_7998253CT>C	uc001aot.3	-	5	607	c.346_splice	c.e5+1	p.G116_splice		NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.	116					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	p.G116S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GCAAACGTACCTTTTTTTGTC	0.408												
RERE	473	broad.mit.edu	37	1	8420670	8420670	+	Frame_Shift_Del	DEL	G	G	-	rs5772316		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:8420669_8420669AG>A	uc001ape.3	-	18	3708	c.2898_2898CT>T	c.(2896-2898)cctfs	p.P966fs	RERE_uc001apf.3_Frame_Shift_Del_p.P966fs|RERE_uc010nzx.1_Frame_Shift_Del_p.P698fs|RERE_uc001apd.3_Frame_Shift_Del_p.P412fs	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	966	Pro-rich.				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	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)		TCAGGGCTGGAGGGGGAGGCA	0.682												
CNKSR1	10256	broad.mit.edu	37	1	26515997	26515997	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:26515996_26515996GC>G	uc001bln.4	+	20	2178	c.2120_2120GC>G	c.(2119-2121)tgcfs	p.C707fs	CNKSR1_uc001blm.4_Frame_Shift_Del_p.C700fs|CNKSR1_uc009vsd.3_Frame_Shift_Del_p.C442fs|CNKSR1_uc009vse.3_Frame_Shift_Del_p.C442fs|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.2_5'Flank|CATSPER4_uc009vsf.3_5'Flank	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	707					Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCATCTCTGCCCCCTGACC	0.627												
EPB41	2035	broad.mit.edu	37	1	29379717	29379717	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:29379716_29379716TA>T	uc001brm.2	+	11	1864	c.1737_1737TA>T	c.(1735-1737)gctfs	p.A579fs	EPB41_uc001brg.2_Frame_Shift_Del_p.A370fs|EPB41_uc001brh.2_Frame_Shift_Del_p.A370fs|EPB41_uc001brj.2_Frame_Shift_Del_p.A370fs|EPB41_uc001bri.2_Frame_Shift_Del_p.A544fs|EPB41_uc009vtk.2_Frame_Shift_Del_p.A543fs|EPB41_uc001brk.3_Frame_Shift_Del_p.A579fs|EPB41_uc001brl.2_Frame_Shift_Del_p.A579fs|EPB41_uc021okg.1_Frame_Shift_Del_p.A579fs|EPB41_uc009vtm.2_Frame_Shift_Del_p.A212fs|EPB41_uc009vtl.2_Frame_Shift_Del_p.A370fs	NM_001166005	NP_001159477	P11171	41_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) (EPB41), transcript variant 1, mRNA.	579	Hydrophilic.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	Golgi apparatus|extrinsic to membrane|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		ATGCCTCTGCTAAAAAAACAG	0.542												
TSSK3	81629	broad.mit.edu	37	1	32829722	32829722	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:32829721_32829721AG>A	uc001bvf.3	+	1	1112	c.671_671AG>A	c.(670-672)aagfs	p.K224fs	LOC100128071_uc021oku.1_5'Flank	NM_052841	NP_443073	Q96PN8	TSSK3_HUMAN	Homo sapiens testis-specific serine kinase 3 (TSSK3), mRNA.	224	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				CAGCAGCAGAAGGGGGTGTCC	0.562												
GRIK3	2899	broad.mit.edu	37	1	37285345	37285346	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:37285344_37285345C>CA	uc001caz.2	-	11	2000_2001	c.1865_1866G>TG	c.(1864-1866)atgfs	p.M622fs	GRIK3_uc001cba.1_Frame_Shift_Ins_p.M622fs	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	622					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TACCTTGCTGCATCAGGGATCC	0.564												
ZC3H12A	80149	broad.mit.edu	37	1	37947231	37947232	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:37947230_37947231G>GA	uc001cbb.4	+	3	762_763	c.612_613G>GA	c.(610-615)aagaagfs	p.K204fs	ZC3H12A_uc001cbc.1_5'UTR	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	Homo sapiens zinc finger CCCH-type containing 12A (ZC3H12A), mRNA.	204					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AACTGGAGAAGAAGAAGATCCT	0.604												
TAL1	6886	broad.mit.edu	37	1	47691475	47691476	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:47691474_47691475C>CG	uc001cqx.2	-	1	663_664	c.86_87G>CG	c.(85-87)ccgfs	p.P29fs	TAL1_uc009vyq.2_5'Flank|TAL1_uc001cqy.2_Frame_Shift_Ins_p.P29fs|TAL1_uc001cra.1_Intron|TAL1_uc001cqz.1_Intron	NM_003189	NP_003180	P17542	TAL1_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA.	29					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						GGACCAGGTGCGGGGGGGCCAT	0.762			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic							
C8B	732	broad.mit.edu	37	1	57395224	57395224	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:57395223_57395223TG>T	uc001cyp.3	-	11	1697	c.1630_1630CA>A	c.(1630-1632)attfs	p.I544fs	C8B_uc010oon.2_Frame_Shift_Del_p.I482fs|C8B_uc010ooo.2_Frame_Shift_Del_p.I492fs	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	544					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.P543L(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TTCCCATCAATGGGGGTATCT	0.443												
KANK4	163782	broad.mit.edu	37	1	62740528	62740528	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:62740527_62740527AG>A	uc001dah.4	-	2	626	c.249_249CT>T	c.(247-249)cctfs	p.P83fs	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	83								p.P83S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCGGGGCTGCAGGGGGGCGAG	0.582												
CDC14A	8556	broad.mit.edu	37	1	100889837	100889837	+	Frame_Shift_Del	DEL	C	C	-	rs138415707		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:100889836_100889836AC>A	uc001dtf.2	+	4	856	c.368_368AC>A	c.(367-369)aacfs	p.N123fs	CDC14A_uc009web.2_Non-coding_Transcript|CDC14A_uc010oui.1_Frame_Shift_Del_p.N65fs|CDC14A_uc001dte.4_Frame_Shift_Del_p.N123fs|CDC14A_uc009wed.1_5'UTR|CDC14A_uc001dtg.4_Frame_Shift_Del_p.N123fs|CDC14A_uc009wee.3_Frame_Shift_Del_p.N123fs	NM_033312	NP_201569	Q9UNH5	CC14A_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog A (S. cerevisiae) (CDC14A), transcript variant 2, mRNA.	123	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCTGGCTCAAACCCCCCCTAT	0.403												
VCAM1	7412	broad.mit.edu	37	1	101203693	101203694	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:101203692_101203693CAA>C	uc001dti.3	+	8	2294_2295	c.2073_2074CAA>C	c.(2071-2076)aacaaafs	p.N691fs	VCAM1_uc010ouj.2_Frame_Shift_Del_p.N629fs|VCAM1_uc001dtj.3_Frame_Shift_Del_p.N599fs	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	691					heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GAGAAAACAACAAAGACTATTT	0.312												
TRIM46	80128	broad.mit.edu	37	1	155150501	155150501	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:155150500_155150500AG>A	uc001fhs.1	+	5	1015	c.932_932AG>A	c.(931-933)gagfs	p.E311fs	TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Frame_Shift_Del_p.E311fs|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Frame_Shift_Del_p.E185fs|TRIM46_uc001fhu.1_Frame_Shift_Del_p.E288fs|TRIM46_uc009wpg.1_Frame_Shift_Del_p.E298fs|TRIM46_uc001fhw.1_Non-coding_Transcript	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	311						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAGGCCAAGGAGGAGGTGTCG	0.612												
CAPN2	824	broad.mit.edu	37	1	223934727	223934727	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:223934726_223934726AG>A	uc001hob.4	+	4	812	c.588_588AG>A	c.(586-588)tcafs	p.S196fs	CAPN2_uc010puy.2_Frame_Shift_Del_p.S118fs	NM_001748	NP_001139540	P17655	CAN2_HUMAN	Homo sapiens calpain 2, (m/II) large subunit (CAPN2), transcript variant 1, mRNA.	196	Calpain catalytic.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		AAGCGCTATCAGGGGGTGCCA	0.532												
GALNT2	2590	broad.mit.edu	37	1	230372414	230372414	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:230372413_230372413CG>C	uc010pwa.1	+	5	621	c.549_549CG>C	c.(547-549)gacfs	p.D183fs	GALNT2_uc010pvy.1_Frame_Shift_Del_p.D145fs|GALNT2_uc010pvz.1_Non-coding_Transcript	NM_004481	NP_004472	Q10471	GALT2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA.	183	Catalytic subdomain A.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TAGCTGAGGACGGGGCTCTCT	0.423												
OR11L1	391189	broad.mit.edu	37	1	248004563	248004563	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr1:248004562_248004562GA>G	uc001idn.1	-	0	637	c.637_637TC>C	c.(637-639)ctgfs	p.L213fs		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L213L(2)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	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)			CCCAGTGTCAGAAAAAAACAA	0.512												
GEN1	348654	broad.mit.edu	37	2	17952518	17952518	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:17952517_17952517TA>T	uc002rct.2	+	6	838	c.765_765TA>T	c.(763-765)actfs	p.T255fs	SMC6_uc010exo.3_Intron|GEN1_uc010yjs.1_Frame_Shift_Del_p.T255fs|GEN1_uc002rcu.2_Frame_Shift_Del_p.T255fs	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Homo sapiens Gen endonuclease homolog 1 (Drosophila) (GEN1), transcript variant 1, mRNA.	255					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGCTAGTCACTAAAAAACTGG	0.348								Homologous recombination				
AGBL5	60509	broad.mit.edu	37	2	27282134	27282136	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:27282133_27282135TAGC>T	uc002rie.3	+	10	2167_2169	c.1950_1952TAGC>T	c.(1948-1953)ggtagc>ggTc	p.S654del	AGBL5_uc002rid.3_In_Frame_Del_p.S654del|AGBL5_uc002rif.3_Non-coding_Transcript	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	Homo sapiens ATP/GTP binding protein-like 5 (AGBL5), transcript variant 1, mRNA.	654	Poly-Ser.				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGCCGGTGGTAGCAGCAGCAGC	0.552												
UGP2	7360	broad.mit.edu	37	2	64109785	64109788	+	Splice_Site	DEL	AGTG	AGTG	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:64109784_64109787AAGTG>A	uc010ypx.2	+	4	475	c.468_splice	c.e4+1	p.E156_splice	UGP2_uc002scl.3_Splice_Site_p.E136_splice|UGP2_uc002scm.3_Splice_Site_p.E147_splice	NM_001001521	NP_001001521	Q16851	UGPA_HUMAN	Homo sapiens UDP-glucose pyrophosphorylase 2 (UGP2), transcript variant 2, mRNA.	147					UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|glycogen biosynthetic process|phosphorylation|xenobiotic metabolic process	cytosol	UTP:glucose-1-phosphate uridylyltransferase activity|metal ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						CAGCAAATTGAAGTGAGTAACATT	0.363												
FBXO41	150726	broad.mit.edu	37	2	73490910	73490910	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:73490909_73490909TC>T	uc021vjh.1	-	6	2062	c.1972_1972GA>A	c.(1972-1974)aacfs	p.N658fs		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	Homo sapiens F-box protein 41 (FBXO41), mRNA.	658						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						ATCAGCAGGTTCCCCCCAGCT	0.637												
SAP130	79595	broad.mit.edu	37	2	128774050	128774051	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:128774049_128774050T>TG	uc010fmd.2	-	3	630_631	c.498_499A>CA	c.(496-501)cccaagfs	p.P166fs	SAP130_uc002tpp.2_Frame_Shift_Ins_p.P166fs|SAP130_uc002tpq.1_Frame_Shift_Ins_p.P140fs	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	166	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CCTGGAACCTTGGGGGGAAGTG	0.530												
NR4A2	4929	broad.mit.edu	37	2	157185029	157185030	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:157185028_157185029A>AT	uc002tyz.4	-	3	1303_1304	c.881_882T>AT	c.(880-882)aatfs	p.N294fs	NR4A2_uc021vri.1_Frame_Shift_Ins_p.N294fs|NR4A2_uc002tyx.4_Frame_Shift_Ins_p.N231fs|NR4A2_uc010zcf.2_Frame_Shift_Ins_p.N294fs|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 2 (NR4A2), mRNA.	294					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CGTATTTTGCATTTTTTTGCAC	0.421												
FIGN	55137	broad.mit.edu	37	2	164467543	164467544	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:164467542_164467543G>GC	uc002uck.1	-	2	1110_1111	c.799_800C>GC	c.(799-801)gcafs	p.A267fs		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	Homo sapiens fidgetin (FIGN), mRNA.	267	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	p.A267fs*100(4)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGGAGGCGGTGCCCCCCCAGGG	0.609												
TTN	7273	broad.mit.edu	37	2	179633504	179633504	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:179633503_179633503CT>C	uc021vsy.1	-	37	9285	c.9060_9060AG>G	c.(9058-9060)aagfs	p.K3020fs	TTN_uc021vsz.1_Frame_Shift_Del_p.K2974fs|TTN_uc021vta.1_Frame_Shift_Del_p.K2974fs|TTN_uc021vtb.1_Frame_Shift_Del_p.K2974fs|TTN_uc002unb.2_Frame_Shift_Del_p.K3020fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3020	Ig-like 17.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTGTGTGAGCTTTTTGGTTC	0.428												
NUP35	129401	broad.mit.edu	37	2	184023121	184023121	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:184023120_184023120TA>T	uc002upf.3	+	6	822	c.719_719TA>T	c.(718-720)gtafs	p.V240fs	NUP35_uc010zfs.2_Frame_Shift_Del_p.V222fs|NUP35_uc010zft.2_Frame_Shift_Del_p.V122fs|NUP35_uc002upg.3_Non-coding_Transcript	NM_138285	NP_612142	Q8NFH5	NUP53_HUMAN	Homo sapiens nucleoporin 35kDa (NUP35), mRNA.	240	RRM Nup35-type.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						ATGATTGGTGTAAAACCATGT	0.383												
DNAH7	56171	broad.mit.edu	37	2	196642652	196642653	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:196642651_196642652ACT>A	uc002utj.4	-	58	11037_11038	c.10936_10937AGT>T	c.(10936-10938)gtgfs	p.V3646fs	DNAH7_uc002uti.4_Frame_Shift_Del_p.V129fs	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3646					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.V3646M(2)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTCATCGGTCACTCTGCCTCCG	0.475												
AAMP	14	broad.mit.edu	37	2	219134766	219134766	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:219134765_219134765TG>T	uc002vhl.3	-	0	129	c.45_45CA>A	c.(43-45)ccafs	p.P15fs	PNKD_uc002vhn.3_5'Flank|AAMP_uc002vhk.3_Frame_Shift_Del_p.P15fs|PNKD_uc002vhm.2_5'Flank	NM_001087	NP_001078	Q13685	AAMP_HUMAN	Homo sapiens angio-associated, migratory cell protein (AAMP), mRNA.	15					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGTCTCCAGTGGGGGGGTGT	0.622												
SLC4A3	6508	broad.mit.edu	37	2	220504282	220504282	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:220504281_220504281TG>T	uc002vmo.4	+	19	3391	c.3182_3182TG>T	c.(3181-3183)ctgfs	p.L1061fs	SLC4A3_uc002vmp.4_Frame_Shift_Del_p.L1034fs|SLC4A3_uc010fwm.3_Frame_Shift_Del_p.L584fs	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	1034	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATTGGCTCCCTGGGGGGGCTC	0.642												
ECEL1	9427	broad.mit.edu	37	2	233349513	233349513	+	Splice_Site	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr2:233349512_233349512TG>T	uc002vsv.2	-	5	1264	c.1059_splice	c.e5+1	p.H353_splice	ECEL1_uc010fya.1_Splice_Site_p.H353_splice|ECEL1_uc010fyb.1_Splice_Site_p.H60_splice	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	353					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CACACTCACGTGGGGGGTGAT	0.597												
CTNNB1	1499	broad.mit.edu	37	3	41275204	41275204	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:41275203_41275203AG>A	uc010hia.1	+	9	1525	c.1369_1369AG>A	c.(1369-1371)aggfs	p.R457fs	CTNNB1_uc003ckq.2_Frame_Shift_Del_p.R457fs|CTNNB1_uc003ckp.2_Frame_Shift_Del_p.R457fs|CTNNB1_uc003ckr.2_Frame_Shift_Del_p.R457fs|CTNNB1_uc011azf.1_Frame_Shift_Del_p.R450fs|CTNNB1_uc011azg.1_Frame_Shift_Del_p.R385fs|CTNNB1_uc003cks.3_Frame_Shift_Del_p.R60fs|CTNNB1_uc003ckt.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	457					Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GGCTGGTGACAGGGAAGACAT	0.502		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of			
STAB1	23166	broad.mit.edu	37	3	52543930	52543931	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:52543929_52543930T>TG	uc003dej.3	+	22	2465_2466	c.2391_2392T>TG	c.(2389-2394)agtgggfs	p.S797fs		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	797					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCCAGGCAGTGGGGGGGTGTG	0.653												
NPHP3	27031	broad.mit.edu	37	3	132418283	132418284	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:132418282_132418283G>GT	uc003epe.2	-	12	2003_2004	c.1899_1900C>AC	c.(1897-1902)aaacacfs	p.K633fs	NPHP3_uc003epd.2_5'UTR	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.	633					Wnt receptor signaling pathway|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	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CATTTCATGTGTTTTTCAACTT	0.322												
ZBBX	79740	broad.mit.edu	37	3	167068281	167068283	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr3:167068280_167068282ATCT>A	uc011bpc.2	-	8	791_793	c.454_456AGAT>T	c.(454-456)gat>T	p.D152del	ZBBX_uc003feq.3_In_Frame_Del_p.D123del|ZBBX_uc003fep.3_In_Frame_Del_p.D152del	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	152						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CTGAACAATAATCTTCTCCACAT	0.310												
POLR2B	5431	broad.mit.edu	37	4	57861565	57861567	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:57861564_57861566AGAG>A	uc003hcl.1	+	5	767_769	c.724_726AGAG>A	c.(724-726)aga>A	p.R242del	POLR2B_uc011cae.1_In_Frame_Del_p.R235del|POLR2B_uc011caf.1_In_Frame_Del_p.R167del	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	242					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					CATGCTGGCAAGAGGAGGACAGG	0.404												
C4orf3	401152	broad.mit.edu	37	4	120221497	120221498	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:120221496_120221497C>CA	uc021xrf.1	-	1	593_594	c.593_594G>TG	c.(592-594)ttgfs	p.L198fs	C4orf3_uc003icv.4_Frame_Shift_Ins_p.L65fs	NM_001170330	NP_001163801	Q8WVX3	CD003_HUMAN	Homo sapiens chromosome 4 open reading frame 3 (C4orf3), transcript variant 1, mRNA.	65						integral to membrane				breast(1)|large_intestine(1)|lung(4)	6						CTCACCATGGCAAAAAATACAC	0.475												
FBXW7	55294	broad.mit.edu	37	4	153268090	153268090	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:153268089_153268089AT>A	uc003ims.3	-	3	881	c.719_719AT>T	c.(718-720)atgfs	p.M240fs	FBXW7_uc011cii.2_Frame_Shift_Del_p.M240fs|FBXW7_uc003imt.3_Frame_Shift_Del_p.M240fs|FBXW7_uc011cih.2_Frame_Shift_Del_p.M64fs|FBXW7_uc003imq.3_Frame_Shift_Del_p.M160fs|FBXW7_uc003imr.3_Frame_Shift_Del_p.M122fs	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	240					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.K239Q(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CACCTGAAACATTTTTAGCCA	0.428			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""							
DDX60L	91351	broad.mit.edu	37	4	169341448	169341449	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr4:169341447_169341448T>TA	uc021xuh.1	-	16	2588_2589	c.2478_2479A>TA	c.(2476-2481)tttacafs	p.F826fs	DDX60L_uc003irq.4_Frame_Shift_Ins_p.F826fs|DDX60L_uc003irr.1_Frame_Shift_Ins_p.F826fs|DDX60L_uc003irs.1_Frame_Shift_Ins_p.F553fs	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	826	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TAATCTCTTGTAAAAGCACCGC	0.356												
SLC12A7	10723	broad.mit.edu	37	5	1074698	1074698	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:1074697_1074697TG>T	uc003jbu.3	-	15	2123	c.2057_2057CA>A	c.(2056-2058)cacfs	p.H686fs		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	686					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GTTCTTGGTGTGGGGGGGACC	0.647												
SLIT3	6586	broad.mit.edu	37	5	168250317	168250319	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:168250316_168250318ATGT>A	uc010jjg.3	-	6	996_998	c.576_578ACAT>T	c.(574-579)aacatc>aaTc	p.I193del	SLIT3_uc003mab.3_In_Frame_Del_p.I193del|SLIT3_uc010jji.2_In_Frame_Del_p.I193del|SLIT3_uc003mac.1_5'UTR	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	193					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATGCGACTGATGTTGTTGTTGT	0.542												
TSPAN17	26262	broad.mit.edu	37	5	176078866	176078866	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr5:176078865_176078865TG>T	uc003met.3	+	2	478	c.249_249TG>T	c.(247-249)attfs	p.I83fs	TSPAN17_uc003mes.3_Intron|TSPAN17_uc003meu.3_Frame_Shift_Del_p.I83fs|TSPAN17_uc003mew.3_Frame_Shift_Del_p.I83fs	NM_012171	NP_036303	Q96FV3	TSN17_HUMAN	Homo sapiens tetraspanin 17 (TSPAN17), transcript variant 1, mRNA.	83						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGCTGCATTGGGGCCCTCC	0.582												
FOXQ1	94234	broad.mit.edu	37	6	1313402	1313402	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	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												
TRIM27	5987	broad.mit.edu	37	6	28876796	28876796	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:28876795_28876795CA>C	uc003nlr.3	-	4	1200	c.841_841TG>G	c.(841-843)gccfs	p.A281fs	TRIM27_uc003nls.3_Frame_Shift_Del_p.A281fs|TRIM27_uc003nlt.1_Frame_Shift_Del_p.A281fs	NM_006510	NP_006501	P14373	TRI27_HUMAN	Homo sapiens tripartite motif containing 27 (TRIM27), mRNA.	281					cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	PML body|cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CATTTTTGGGCAAAAATGTGG	0.378			T	RET	papillary thyroid							
CDC5L	988	broad.mit.edu	37	6	44374081	44374082	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:44374080_44374081G>GA	uc003oxl.3	+	6	1089_1090	c.779_780G>GA	c.(778-780)agafs	p.R260fs		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.	260	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGAAGAGATAGAAAAAAAGACA	0.297												
OGFRL1	79627	broad.mit.edu	37	6	72006204	72006204	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:72006203_72006203TC>T	uc003pfx.1	+	4	648	c.485_485TC>T	c.(484-486)ttcfs	p.F162fs		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	Homo sapiens opioid growth factor receptor-like 1 (OGFRL1), mRNA.	162						membrane	receptor activity	p.L161R(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						aataGGCTTTTCCCCCTGAGA	0.313												
C6orf170	221322	broad.mit.edu	37	6	121560337	121560337	+	Splice_Site	DEL	A	A	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr6:121560336_121560336TA>T	uc003pyo.1	-	20	2314	c.2246_splice	c.e20-1	p.G749_splice	C6orf170_uc003pyq.1_Splice_Site|C6orf170_uc010kej.1_5'Flank|C6orf170_uc003pyp.1_Splice_Site_p.G268_splice	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	749					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		TAATAAACCCTAAAAAGAATT	0.343												
PHACTR2	9749	broad.mit.edu	37	6	144086414	144086415	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	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												
DAGLB	221955	broad.mit.edu	37	7	6449932	6449932	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:6449931_6449931GC>G	uc003sqa.3	-	13	1820	c.1650_1650GC>C	c.(1648-1650)ggcfs	p.G550fs	DAGLB_uc003spy.3_Frame_Shift_Del_p.G96fs|DAGLB_uc003spz.3_Frame_Shift_Del_p.G247fs|DAGLB_uc011jwt.2_Frame_Shift_Del_p.G364fs|DAGLB_uc011jwu.2_Frame_Shift_Del_p.G421fs|DAGLB_uc003sqb.3_Frame_Shift_Del_p.G269fs|DAGLB_uc003sqc.3_Frame_Shift_Del_p.G269fs|DAGLB_uc011jwv.2_Non-coding_Transcript|DAGLB_uc003sqd.4_Frame_Shift_Del_p.G509fs	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	Homo sapiens diacylglycerol lipase, beta (DAGLB), transcript variant 1, mRNA.	550					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CTTCCTGGTCGCCCCCGTCCA	0.597												
C7orf26	79034	broad.mit.edu	37	7	6639539	6639540	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:6639538_6639539C>CT	uc003sqo.1	+	3	659_660	c.659_660C>CT	c.(658-660)actfs	p.T220fs	C7orf26_uc003sqp.1_Intron	NM_024067	NP_076972	Q96N11	CG026_HUMAN	Homo sapiens chromosome 7 open reading frame 26 (C7orf26), mRNA.	220										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		ATTCTCATCACTTTTTTAAATA	0.470												
FKBP9	11328	broad.mit.edu	37	7	33014804	33014805	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:33014803_33014804T>TC	uc011kal.2	+	3	717_718	c.536_537T>TC	c.(535-537)atcfs	p.I179fs	AVL9_uc011kai.2_Intron|FKBP9_uc011kak.1_Non-coding_Transcript|FKBP9_uc003tdh.3_Frame_Shift_Ins_p.I126fs|FKBP9_uc010kwm.3_Frame_Shift_Ins_p.I33fs	NM_007270	NP_009201	O95302	FKBP9_HUMAN	Homo sapiens FK506 binding protein 9, 63 kDa (FKBP9), mRNA.	126	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAATT	0.446												
DDC	1644	broad.mit.edu	37	7	50531075	50531075	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:50531074_50531074AT>A	uc003tpg.4	-	13	1499	c.1298_1298AT>T	c.(1297-1299)atcfs	p.I433fs	DDC_uc022ade.1_Frame_Shift_Del_p.I355fs|DDC_uc003tpf.4_Frame_Shift_Del_p.I433fs|DDC_uc022adb.1_Frame_Shift_Del_p.I395fs|DDC_uc022adc.1_Frame_Shift_Del_p.I385fs|DDC_uc022add.1_Frame_Shift_Del_p.I340fs	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	433					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	AACCAAGTGGATTTTTTTGGC	0.507												
TFEC	22797	broad.mit.edu	37	7	115594657	115594657	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:115594656_115594656CT>C	uc003vhj.2	-	4	676	c.423_423AG>G	c.(421-423)aagfs	p.K141fs	TFEC_uc003vhm.2_Frame_Shift_Del_p.K74fs|TFEC_uc003vhk.2_Frame_Shift_Del_p.K112fs|TFEC_uc003vhl.4_Frame_Shift_Del_p.K112fs|TFEC_uc011kmw.2_Frame_Shift_Del_p.K231fs	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	141	Helix-loop-helix motif.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.K141fs*42(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TGTGGTTGTCCTTTTTTTGTC	0.333												
JHDM1D	80853	broad.mit.edu	37	7	139790972	139790972	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:139790971_139790971CT>C	uc003vvm.3	-	19	2753	c.2749_2749AG>G	c.(2749-2751)ggafs	p.G917fs	JHDM1D_uc010lng.3_Non-coding_Transcript	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	917					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GTTGCCATTCCTTTTTTTGGA	0.433												
UBE3C	9690	broad.mit.edu	37	7	156976641	156976642	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr7:156976640_156976641GTC>G	uc010lqs.3	+	8	1372_1373	c.1060_1061GTC>G	c.(1060-1062)gtcfs	p.V354fs	UBE3C_uc003wnf.2_Frame_Shift_Del_p.V311fs|UBE3C_uc003wng.2_Frame_Shift_Del_p.V354fs	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	354					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TCAGTTACCAGTCTCTCCTGCC	0.559												
PPP3CC	5533	broad.mit.edu	37	8	22332543	22332543	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:22332542_22332542TA>T	uc011kzi.2	+	1	565	c.125_125TA>T	c.(124-126)ttafs	p.L42fs	PPP3CC_uc003xbr.2_Frame_Shift_Del_p.L42fs|PPP3CC_uc003xbs.3_Frame_Shift_Del_p.L42fs|PPP3CC_uc003xbt.3_Frame_Shift_Del_p.L42fs	NM_001243974	NP_001230903	P48454	PP2BC_HUMAN	Homo sapiens protein phosphatase 3, catalytic subunit, gamma isozyme (PPP3CC), transcript variant 1, mRNA.	42					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		GTTGATGTTTTAAAAAACCAT	0.378												
CHRNA2	1135	broad.mit.edu	37	8	27320855	27320855	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:27320854_27320854GC>G	uc010lur.3	-	5	1715	c.1106_1106GC>C	c.(1105-1107)gccfs	p.A369fs	CHRNA2_uc011lal.2_Frame_Shift_Del_p.A354fs|CHRNA2_uc010lus.3_Frame_Shift_Del_p.A171fs	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 2 (neuronal) (CHRNA2), mRNA.	369						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.A369fs*84(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	GCCCAGAAGGGCCCCCCGCAC	0.647												
KIF13B	23303	broad.mit.edu	37	8	29043992	29043992	+	Splice_Site	DEL	A	A	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:29043991_29043991TA>T	uc003xhh.4	-	6	376	c.317_splice	c.e6-1	p.G106_splice	KIF13B_uc003xhj.2_Splice_Site_p.G3_splice|KIF13B_uc010lvf.1_Splice_Site_p.G42_splice	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	106	Kinesin-motor.				T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TTCCAGAGCCTAAAAAAATGG	0.393												
MCM4	4173	broad.mit.edu	37	8	48883979	48883979	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:48883978_48883978TA>T	uc003xqk.2	+	12	2704	c.1878_1878TA>T	c.(1876-1878)cctfs	p.P626fs	MCM4_uc003xql.2_Frame_Shift_Del_p.P626fs|MCM4_uc011ldi.2_Frame_Shift_Del_p.P613fs	NM_182746	NP_877423	P33991	MCM4_HUMAN	Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA.	626	MCM.				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|cell cycle checkpoint	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				AGTGGAATCCTAAAAAAACAA	0.408												
XKR4	114786	broad.mit.edu	37	8	56015076	56015076	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:56015075_56015075GA>G	uc003xsf.3	+	0	59	c.27_27GA>G	c.(25-27)ctgfs	p.L9fs		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	9						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			ACGGGAGGCTGAAAATGAAGA	0.627												
ARFGEF1	10565	broad.mit.edu	37	8	68128856	68128857	+	Frame_Shift_Ins	INS	-	-	G	rs142098461		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:68128855_68128856T>TG	uc003xxo.2	-	32	5045_5046	c.4655_4656A>CA	c.(4654-4656)ccafs	p.P1552fs	ARFGEF1_uc003xxl.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_uc003xxn.2_Frame_Shift_Ins_p.P535fs	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	1552					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421												
KCNB2	9312	broad.mit.edu	37	8	73480092	73480092	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:73480091_73480091TG>T	uc003xzb.3	+	1	710	c.122_122TG>T	c.(121-123)gtgfs	p.V41fs		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	41					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AAGATCAATGTGGGGGGCCTC	0.562												
MMP16	4325	broad.mit.edu	37	8	89128860	89128861	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:89128859_89128860A>AT	uc003yeb.4	-	5	1241_1242	c.959_960T>AT	c.(958-960)aatfs	p.N320fs		NM_005941	NP_005932	P51512	MMP16_HUMAN	Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.	320					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TTGGCCTGTCATTTTTCCTTGG	0.520												
TMEM64	169200	broad.mit.edu	37	8	91643788	91643788	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:91643787_91643787CA>C	uc003yen.2	-	1	944	c.944_944TG>G	c.(943-945)tgtfs	p.C315fs	TMEM64_uc003yeo.2_Frame_Shift_Del_p.C54fs|TMEM64_uc011lgf.1_Intron	NM_001008495	NP_001008495	Q6YI46	TMM64_HUMAN	Homo sapiens transmembrane protein 64 (TMEM64), transcript variant 1, mRNA.	315						integral to membrane				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			CACCTGTAAACAAAAAACAAA	0.388												
VPS13B	157680	broad.mit.edu	37	8	100050671	100050671	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:100050670_100050670CT>C	uc003yiv.3	+	2	278	c.167_167CT>C	c.(166-168)actfs	p.T56fs	VPS13B_uc003yiw.3_Frame_Shift_Del_p.T56fs|VPS13B_uc003yit.3_Frame_Shift_Del_p.T56fs|VPS13B_uc003yiu.1_Frame_Shift_Del_p.T56fs|VPS13B_uc003yis.3_Frame_Shift_Del_p.T56fs|VPS13B_uc011lgy.2_5'UTR	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	56					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTACCATTCACTTTTTTAAGT	0.269												
RGS22	26166	broad.mit.edu	37	8	101075899	101075900	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:101075898_101075899T>TA	uc003yjb.1	-	7	1292_1293	c.1097_1098A>TA	c.(1096-1098)ttafs	p.L366fs	RGS22_uc003yja.1_Frame_Shift_Ins_p.L185fs|RGS22_uc003yjc.1_Frame_Shift_Ins_p.L354fs|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Frame_Shift_Ins_p.L270fs	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	366					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTAATTCACTTAAAAAATTCTT	0.376												
COL14A1	7373	broad.mit.edu	37	8	121379471	121379472	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:121379470_121379471G>GC	uc003yox.3	+	45	5403_5404	c.5138_5139G>GC	c.(5137-5139)ggcfs	p.G1713fs	COL14A1_uc003yoz.3_Frame_Shift_Ins_p.G678fs	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1713	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGTCCAAGAGGCCCCCCTGGAC	0.371												
KCNK9	51305	broad.mit.edu	37	8	140630595	140630595	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:140630594_140630594GT>G	uc003yvf.1	-	1	1096	c.1032_1032AC>C	c.(1030-1032)aacfs	p.N344fs	KCNK9_uc003yvg.1_Frame_Shift_Del_p.N344fs|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	344						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GGAAGAGGCTGTTTTTTAATG	0.537												
MAPK15	225689	broad.mit.edu	37	8	144804319	144804319	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:144804318_144804318AG>A	uc003yzj.3	+	13	1573	c.1532_1532AG>A	c.(1531-1533)cagfs	p.Q511fs		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	511					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	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)			CAGGGTGCCCAGGGGGGTGCC	0.667												
ZNF7	7553	broad.mit.edu	37	8	146066890	146066891	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr8:146066889_146066890GAC>G	uc010mge.3	+	4	567_568	c.430_431GAC>G	c.(430-432)gacfs	p.D144fs	ZNF7_uc003zeg.4_Frame_Shift_Del_p.D133fs|ZNF7_uc011lln.2_Frame_Shift_Del_p.D37fs|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.4_Frame_Shift_Del_p.D37fs|COMMD5_uc003zel.1_Non-coding_Transcript	NM_003416	NP_003407	P17097	ZNF7_HUMAN	Homo sapiens zinc finger protein 7 (ZNF7), mRNA.	133					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		GGTCTGGTTAGACAGTCATCTG	0.485												
PTPRD	5789	broad.mit.edu	37	9	8499702	8499702	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:8499701_8499701AT>A	uc003zkk.3	-	24	3011	c.2268_2268AT>T	c.(2266-2268)aatfs	p.N756fs	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	756	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGGGCTCACCATTTTCCATCC	0.443										TSP Lung(15;0.13)		
FREM1	158326	broad.mit.edu	37	9	14842654	14842654	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:14842653_14842653TC>T	uc003zlm.3	-	9	2215	c.1399_1399GA>A	c.(1399-1401)aaafs	p.K467fs	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	467					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGAAACCCTTTCCCCCCTGAG	0.527												
FBP1	2203	broad.mit.edu	37	9	97369188	97369190	+	In_Frame_Del	DEL	TTT	TTT	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:97369187_97369189CTTT>C	uc004auw.4	-	4	944_946	c.613_615AAAG>G	c.(613-615)aag>G	p.K206del	FBP1_uc010mrl.3_In_Frame_Del_p.K206del	NM_000507	NP_001121100	P09467	F16P1_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 1 (FBP1), transcript variant 1, mRNA.	206					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	TTTTACCTTTCTTTTTTATCTTC	0.507												
NR6A1	2649	broad.mit.edu	37	9	127302452	127302454	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:127302451_127302453TTTC>T	uc004bor.1	-	4	633_635	c.455_457GAAA>A	c.(454-459)gaaatc>gAtc	p.152_153EI>D	NR6A1_uc004boq.1_In_Frame_Del_p.148_149EI>D|NR6A1_uc010mwq.1_In_Frame_Del_p.148_149EI>D	NM_033334	NP_201591	Q15406	NR6A1_HUMAN	Homo sapiens nuclear receptor subfamily 6, group A, member 1 (NR6A1), transcript variant 1, mRNA.	152					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	p.I153I(1)		NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						ATCCTTTCGATTTCTTCTTCCGA	0.468												
ABL1	25	broad.mit.edu	37	9	133760613	133760613	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:133760612_133760612GC>G	uc004bzw.3	+	10	2938	c.2935_2935GC>G	c.(2935-2937)gccfs	p.A979fs	ABL1_uc004bzv.3_Frame_Shift_Del_p.A998fs	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	979	F-actin-binding.|Pro-rich.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CATCAGCCCAGCCCCCGTTCC	0.662			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""							
UAP1L1	91373	broad.mit.edu	37	9	139975220	139975220	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:139975219_139975219TC>T	uc010ncb.3	+	6	1289	c.1257_1257TC>T	c.(1255-1257)agtfs	p.S419fs	UAP1L1_uc004cla.4_Frame_Shift_Del_p.S296fs	NM_207309	NP_997192	Q3KQV9	UAP1L_HUMAN	Homo sapiens UDP-N-acteylglucosamine pyrophosphorylase 1-like 1 (UAP1L1), mRNA.	419							nucleotidyltransferase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		ACAGGGACAGTCCCCGCACCG	0.667												
NDOR1	27158	broad.mit.edu	37	9	140109259	140109259	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr9:140109258_140109258TC>T	uc004clx.3	+	7	964	c.853_853TC>T	c.(853-855)tccfs	p.S285fs	NDOR1_uc004clw.3_Frame_Shift_Del_p.S285fs|NDOR1_uc011mes.2_Frame_Shift_Del_p.S285fs|NDOR1_uc004cly.3_Frame_Shift_Del_p.S251fs	NM_001144026	NP_001137498	Q9UHB4	NDOR1_HUMAN	Homo sapiens NADPH dependent diflavin oxidoreductase 1 (NDOR1), transcript variant 1, mRNA.	285	FAD-binding FR-type.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	FMN binding|NADP binding|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|protein binding	p.S284S(1)		breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		AGATGTCTCCTCCCCCACGAG	0.706												
DIP2C	22982	broad.mit.edu	37	10	395273	395273	+	Splice_Site	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:395272_395272TG>T	uc001ifp.3	-	25	3199	c.3109_splice	c.e25+1	p.G1037_splice	DIP2C_uc009xhi.1_Splice_Site_p.G423_splice	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	1037						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGCCTGTACCTGGGGGGTAGA	0.667												
FRMD4A	55691	broad.mit.edu	37	10	13696452	13696452	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:13696451_13696451TG>T	uc001ims.3	-	22	3367	c.3015_3015CA>A	c.(3013-3015)ccafs	p.P1005fs	PRPF18_uc001imq.3_Intron|FRMD4A_uc009xjf.1_Frame_Shift_Del_p.P1005fs	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	1005	Ser-rich.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGGGGCTGCTTGGGGGGGTGG	0.532												
KIAA1217	56243	broad.mit.edu	37	10	24669902	24669902	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:24669901_24669901AG>A	uc001iru.4	+	2	861	c.458_458AG>A	c.(457-459)gagfs	p.E153fs	KIAA1217_uc001irs.3_Frame_Shift_Del_p.E73fs|KIAA1217_uc001irt.4_Frame_Shift_Del_p.E153fs|KIAA1217_uc010qcy.2_Frame_Shift_Del_p.E153fs|KIAA1217_uc010qcz.2_Frame_Shift_Del_p.E153fs|KIAA1217_uc001irv.1_Frame_Shift_Del_p.E3fs|KIAA1217_uc010qda.1_Non-coding_Transcript	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	153					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						GCCATGTCTGAGGGGGATGCT	0.557												
PTCHD3	374308	broad.mit.edu	37	10	27702951	27702952	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:27702950_27702951C>CG	uc001itu.2	-	0	347_348	c.229_230G>CG	c.(229-231)cggfs	p.R77fs		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	77					spermatid development	integral to membrane	hedgehog receptor activity	p.P76S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CATCGACGGCCGGGGGGGTGCA	0.718												
SVIL	6840	broad.mit.edu	37	10	29762772	29762773	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:29762771_29762772G>GC	uc001iut.1	-	29	6277_6278	c.5524_5525C>GC	c.(5524-5526)gccfs	p.A1842fs	LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Frame_Shift_Ins_p.A756fs|SVIL_uc001iuu.1_Frame_Shift_Ins_p.A1416fs	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1842					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACTCACCTGGGCCCCCCTTTCC	0.639												
ZMIZ1	57178	broad.mit.edu	37	10	81067262	81067262	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:81067261_81067261AC>A	uc001kaf.2	+	22	3340	c.2768_2768AC>A	c.(2767-2769)cacfs	p.H923fs	ZMIZ1_uc001kag.2_Frame_Shift_Del_p.H799fs|ZMIZ1_uc010qlq.1_Frame_Shift_Del_p.H76fs	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	923	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CAGCTCTCCCACCCCCCGGAC	0.607												
HTR7	3363	broad.mit.edu	37	10	92502258	92502258	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:92502257_92502257CT>C	uc001kha.3	-	3	1665	c.1422_1422AG>G	c.(1420-1422)aagfs	p.K474fs	HTR7_uc001kgz.3_Frame_Shift_Del_p.G442fs|HTR7_uc001khb.3_3'UTR	NM_019859	NP_062873	P34969	5HT7R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	474					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GAATCATGACCTTTTTTTCTA	0.328												
C10orf129	142827	broad.mit.edu	37	10	96967067	96967067	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:96967066_96967066GC>G	uc001kke.3	+	3	630	c.505_505GC>G	c.(505-507)gccfs	p.A169fs	C10orf129_uc009xuu.1_Frame_Shift_Del_p.A79fs	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN	Homo sapiens chromosome 10 open reading frame 129 (C10orf129), mRNA.	169					fatty acid metabolic process	mitochondrion	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		TGAAGCTATGGCCCCAGTTGT	0.498												
PWWP2B	170394	broad.mit.edu	37	10	134218255	134218256	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr10:134218254_134218255T>TC	uc001lll.4	+	1	279_280	c.250_251T>TC	c.(250-252)tccfs	p.S84fs	PWWP2B_uc009ybe.3_Frame_Shift_Ins_p.S84fs	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	84										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GGGGTCCAGCTCCCCCCCTCCT	0.748												
ANO9	338440	broad.mit.edu	37	11	418445	418445	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:418444_418444GC>G	uc001lpi.2	-	22	2361	c.2276_2276GC>C	c.(2275-2277)gcafs	p.A759fs	SIGIRR_uc001lpf.2_5'Flank|SIGIRR_uc001lpe.1_5'Flank|ANO9_uc001lph.2_Frame_Shift_Del_p.A452fs|ANO9_uc010qvv.1_Frame_Shift_Del_p.A615fs	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	759						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CCGAGAGCCTGCCCCCACCCC	0.627												
RPLP2	6181	broad.mit.edu	37	11	812778	812780	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:812777_812779GAGA>G	uc001lrq.1	+	4	394_396	c.289_291GAGA>G	c.(289-291)gag>G	p.E97del		NM_001004	NP_000995	P05387	RLA2_HUMAN	Homo sapiens ribosomal protein, large, P2 (RPLP2), mRNA.	97					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			lung(1)	1		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;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAAGAAAGATGAGAAGAAGGAGG	0.502												
PLEKHA7	144100	broad.mit.edu	37	11	16822525	16822526	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:16822524_16822525G>GA	uc010rcu.1	-	16	2420_2421	c.2405_2406C>TC	c.(2404-2406)ttcfs	p.F802fs	PLEKHA7_uc001mmo.3_Frame_Shift_Ins_p.F802fs|PLEKHA7_uc010rcv.2_Frame_Shift_Ins_p.F376fs|PLEKHA7_uc001mmn.3_Frame_Shift_Ins_p.F510fs	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	802					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						AGGTCACCTGGAAAAAAAAGGC	0.446												
PAX6	5080	broad.mit.edu	37	11	31812317	31812318	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:31812316_31812317T>TG	uc009yjr.3	-	11	1593_1594	c.1124_1125A>CA	c.(1123-1125)ccafs	p.P375fs	PAX6_uc001mtd.4_Frame_Shift_Ins_p.P375fs|PAX6_uc001mte.4_Frame_Shift_Ins_p.P375fs|PAX6_uc001mtg.4_Frame_Shift_Ins_p.P389fs|PAX6_uc001mtf.4_Frame_Shift_Ins_p.P375fs|PAX6_uc001mth.4_Frame_Shift_Ins_p.P375fs|PAX6_uc021qfl.1_Frame_Shift_Ins_p.P389fs|PAX6_uc021qfm.1_Frame_Shift_Ins_p.P389fs	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA.	375	Pro/Ser/Thr-rich.		P -> Q (in AN; reduced DNA binding ability).		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCTGCATATGTGGGGGGGTGTA	0.589									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation			
HIPK3	10114	broad.mit.edu	37	11	33308323	33308323	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:33308322_33308322GC>G	uc001mul.1	+	1	632	c.362_362GC>G	c.(361-363)ggcfs	p.G121fs	HIPK3_uc001mum.1_Frame_Shift_Del_p.G121fs|HIPK3_uc009yjv.1_Frame_Shift_Del_p.G121fs	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	Homo sapiens homeodomain interacting protein kinase 3 (HIPK3), transcript variant 1, mRNA.	121					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TTCCTAGAAGGCCCCCAGCGA	0.512												
MS4A12	54860	broad.mit.edu	37	11	60269470	60269471	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:60269469_60269470GCT>G	uc001npr.3	+	3	485_486	c.428_429GCT>G	c.(427-429)ggcfs	p.G143fs	MS4A12_uc021qkb.1_Frame_Shift_Del_p.G97fs	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 12 (MS4A12), transcript variant 1, mRNA.	143						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						ATTATCTCTGGCTCTCTCTCTG	0.376												
PYGM	5837	broad.mit.edu	37	11	64519099	64519100	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:64519098_64519099C>CA	uc001oax.4	-	14	2614_2615	c.1797_1798G>TG	c.(1795-1800)tttgtgfs	p.F599fs	PYGM_uc001oay.4_Frame_Shift_Ins_p.F511fs	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	599					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GTCCGAGGCACAAAAAACTTAT	0.564												
ADRBK1	156	broad.mit.edu	37	11	67048952	67048952	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:67048951_67048951CA>C	uc009yrn.1	+	8	935	c.669_669CA>C	c.(667-669)gacfs	p.D223fs		NM_001619	NP_001610	P25098	ARBK1_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 1 (ADRBK1), mRNA.	223	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	ATP binding|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|alpha-2A adrenergic receptor binding|beta-adrenergic receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	AGTGCCTGGACAAAAAGCGCA	0.647												
NADSYN1	55191	broad.mit.edu	37	11	71192429	71192430	+	Frame_Shift_Ins	INS	-	-	T	rs76254912		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:71192428_71192429A>AT	uc001oqn.3	+	11	1151_1152	c.1025_1026A>AT	c.(1024-1026)gatfs	p.D342fs	NADSYN1_uc001oqo.3_Frame_Shift_Ins_p.D82fs|NADSYN1_uc001oqp.3_5'UTR	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	Homo sapiens NAD synthetase 1 (NADSYN1), mRNA.	342	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ synthase (glutamine-hydrolyzing) activity|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TGGCTCTGGGATTTTTTAAGAC	0.559												
CTSC	1075	broad.mit.edu	37	11	88068108	88068108	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:88068107_88068107TA>T	uc001pck.4	-	1	417	c.316_316TA>A	c.(316-318)aagfs	p.K106fs	CTSC_uc001pcl.4_5'UTR|CTSC_uc001pcm.4_Frame_Shift_Del_p.K106fs|CTSC_uc001pcn.4_Frame_Shift_Del_p.K106fs	NM_001814	NP_001805	P53634	CATC_HUMAN	Homo sapiens cathepsin C (CTSC), transcript variant 1, mRNA.	106					immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAACTAACCTTAAAAAAGGCA	0.338												
RNF214	257160	broad.mit.edu	37	11	117105026	117105026	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:117105025_117105025GC>G	uc001pqt.3	+	1	82	c.37_37GC>G	c.(37-39)gccfs	p.A13fs	PCSK7_uc001pqr.3_5'Flank|RNF214_uc001pqu.3_Frame_Shift_Del_p.A13fs|RNF214_uc010rxf.2_Frame_Shift_Del_p.A13fs	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	Homo sapiens ring finger protein 214 (RNF214), transcript variant 1, mRNA.	13							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		TGTGGCCAATGCCCCCAGTCC	0.443												
MLL	4297	broad.mit.edu	37	11	118375915	118375915	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:118375914_118375914CA>C	uc001pta.3	+	26	9321	c.9298_9298CA>C	c.(9298-9300)caafs	p.Q3100fs	MLL_uc001ptb.3_Frame_Shift_Del_p.Q3103fs	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	3100					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TGGAGTGACCCAAAAAATCCA	0.468			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""							
DDX6	1656	broad.mit.edu	37	11	118629614	118629615	+	Splice_Site	INS	-	-	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr11:118629613_118629614T>TG	uc001pub.2	-	9	1226	c.865_splice	c.e9-1	p.N289_splice	DDX6_uc001pua.2_5'UTR|DDX6_uc001puc.2_Splice_Site_p.N289_splice	NM_004397	NP_004388	P26196	DDX6_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.	289	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL							
WBP11	51729	broad.mit.edu	37	12	14944150	14944152	+	In_Frame_Del	DEL	TTC	TTC	-	rs141625773		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:14944149_14944151GTTC>G	uc001rci.3	-	8	1128_1130	c.967_969GAAC>C	c.(967-969)aac>C	p.N323del		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	Homo sapiens WW domain binding protein 11 (WBP11), mRNA.	323					RNA splicing|mRNA processing|rRNA processing	cytoplasm	WW domain binding|single-stranded DNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GTTCCTTCATGTTCTTCTTTTTC	0.433												
AMHR2	269	broad.mit.edu	37	12	53819645	53819646	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:53819644_53819645C>CG	uc001scx.2	+	5	873_874	c.793_794C>CG	c.(793-795)cggfs	p.R265fs	AMHR2_uc009zmy.2_Frame_Shift_Ins_p.R265fs|AMHR2_uc021qyg.1_Frame_Shift_Ins_p.R265fs	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	265	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	p.R265W(2)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CACTGCCAGCCGGGGGGGTCCT	0.579												
CCDC38	120935	broad.mit.edu	37	12	96260860	96260861	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:96260859_96260860T>TA	uc001tek.2	-	15	1920_1921	c.1686_1687A>TA	c.(1684-1689)tttactfs	p.F562fs		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	Homo sapiens coiled-coil domain containing 38 (CCDC38), mRNA.	562										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTTATTCAAGTAAAAAAATATT	0.287												
FAM71C	196472	broad.mit.edu	37	12	100042354	100042355	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:100042353_100042354T>TA	uc001tgn.3	+	0	826_827	c.401_402T>TA	c.(400-402)gtafs	p.V134fs	ANKS1B_uc001tge.2_Intron|ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Intron	NM_153364	NP_699195	Q8NEG0	FA71C_HUMAN	Homo sapiens family with sequence similarity 71, member C (FAM71C), mRNA.	134										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		CACAACAGCGTAAAAAAACAGC	0.480												
MVK	4598	broad.mit.edu	37	12	110019240	110019240	+	Frame_Shift_Del	DEL	C	C	-	rs104895373		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:110019239_110019239GC>G	uc001toy.4	+	4	595	c.411_411GC>G	c.(409-411)ctgfs	p.L137fs	MVK_uc009zvk.3_Frame_Shift_Del_p.L137fs|MVK_uc010sxr.2_Intron|MVK_uc001toz.4_Intron|MVK_uc021rdo.1_Frame_Shift_Del_p.L137fs|MVK_uc001tpc.4_Non-coding_Transcript	NM_001114185	NP_001107657	Q03426	KIME_HUMAN	Homo sapiens mevalonate kinase (MVK), transcript variant 2, mRNA.	137					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						GGTCGGAGCTGCCCCCCGGGG	0.662												
TRPV4	59341	broad.mit.edu	37	12	110238437	110238438	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:110238436_110238437G>GC	uc001tpj.2	-	3	934_935	c.839_840C>GC	c.(838-840)ggcfs	p.G280fs	TRPV4_uc001tpg.2_Frame_Shift_Ins_p.G246fs|TRPV4_uc021rdp.1_Frame_Shift_Ins_p.G280fs|TRPV4_uc001tph.2_Intron|TRPV4_uc001tpi.2_Intron|TRPV4_uc001tpk.2_Frame_Shift_Ins_p.G280fs	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	280					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AGTAGAAGTAGCCCCCCTCATC	0.609												
CCDC92	80212	broad.mit.edu	37	12	124421800	124421801	+	Frame_Shift_Ins	INS	-	-	G	rs147939560		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr12:124421799_124421800T>TG	uc001ufw.1	-	4	948_949	c.801_802A>CA	c.(799-804)cccatcfs	p.P267fs	CCDC92_uc001ufv.1_Frame_Shift_Ins_p.P250fs|CCDC92_uc001ufx.1_Frame_Shift_Ins_p.P267fs	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	Homo sapiens coiled-coil domain containing 92 (CCDC92), mRNA.	267										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		TCGGAGGCGATGGGGGGGATGA	0.683												
LECT1	11061	broad.mit.edu	37	13	53313766	53313766	+	Splice_Site	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr13:53313765_53313765CG>C	uc001vhf.2	-	1	183	c.72_splice	c.e1+1	p.P24_splice	LECT1_uc001vhg.2_Splice_Site_p.P24_splice|LECT1_uc001vhh.2_Splice_Site_p.P51_splice	NM_007015	NP_008946	O75829	LECT1_HUMAN	Homo sapiens leukocyte cell derived chemotaxin 1 (LECT1), transcript variant 1, mRNA.	24					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		CGGTACTCACCGGGGGGCTGC	0.597												
RNF31	55072	broad.mit.edu	37	14	24620009	24620009	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:24620008_24620008GC>G	uc001wmn.1	+	7	1648	c.1399_1399GC>G	c.(1399-1401)gccfs	p.A467fs	RNF31_uc001wml.1_Frame_Shift_Del_p.A316fs|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Frame_Shift_Del_p.A282fs|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.3_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	467	Polyubiquitin-binding.				CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		ACGCCTTAGTGCCCCCCTGCC	0.622												
SOS2	6655	broad.mit.edu	37	14	50606661	50606662	+	Splice_Site	INS	-	-	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:50606660_50606661C>CA	uc001wxs.4	-	17	2883	c.2785_splice	c.e17+1	p.G929_splice	SOS2_uc010tql.2_Splice_Site_p.G896_splice|SOS2_uc010tqm.1_Splice_Site	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	929	Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					AGTAACTTACCAAAAAAAGGCA	0.342												
SAMD4A	23034	broad.mit.edu	37	14	55226890	55226890	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:55226889_55226889AG>A	uc001xbb.3	+	5	1492	c.1184_1184AG>A	c.(1183-1185)gagfs	p.E395fs	SAMD4A_uc001xbc.3_Frame_Shift_Del_p.E308fs|SAMD4A_uc001xbg.2_5'UTR	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN	Homo sapiens sterile alpha motif domain containing 4A (SAMD4A), transcript variant 1, mRNA.	396					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	p.I394I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						GACATCATCGAGGGGGGCAGC	0.637												
LGMN	5641	broad.mit.edu	37	14	93170987	93170987	+	Splice_Site	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:93170986_93170986TG>T	uc001yav.3	-	14	1620	c.1259_splice	c.e14+1	p.R420_splice	LGMN_uc001yat.3_Splice_Site_p.R363_splice|LGMN_uc001yau.3_Intron|LGMN_uc001yaw.3_Splice_Site_p.R420_splice	NM_001008530	NP_005597	Q99538	LGMN_HUMAN	Homo sapiens legumain (LGMN), transcript variant 2, mRNA.	420					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		ATTAGTTACCTGTGAAGCGGA	0.483												
BTBD7	55727	broad.mit.edu	37	14	93730184	93730184	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr14:93730183_93730183TA>T	uc001ybo.3	-	3	1645	c.1319_1319TA>A	c.(1318-1320)tatfs	p.Y440fs	BTBD7_uc010aur.3_Intron|BTBD7_uc010two.2_Intron|BTBD7_uc001ybp.3_Frame_Shift_Del_p.Y89fs|BTBD7_uc001ybq.4_Frame_Shift_Del_p.Y355fs	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	440										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GCTGAGTTCATAAAAAACATC	0.423												
VPS39	23339	broad.mit.edu	37	15	42492117	42492119	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:42492116_42492118GAGA>G	uc001zpd.3	-	1	266_268	c.115_117TCTC>C	c.(115-117)ctc>C	p.L39del	VPS39_uc001zpc.3_In_Frame_Del_p.L39del|MIR627_uc021sjq.1_5'Flank	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA.	39	CNH.				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		GAATCCTATAGAGAAGAAGATGT	0.360												
STRC	161497	broad.mit.edu	37	15	43893734	43893735	+	Frame_Shift_Ins	INS	-	-	G	rs74643365	byFrequency	TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:43893733_43893734C>CG	uc001zsf.3	-	23	4639_4640	c.4561_4562G>CG	c.(4561-4563)cggfs	p.R1521fs	STRC_uc010bdl.3_Frame_Shift_Ins_p.R748fs|STRC_uc001zse.3_Frame_Shift_Ins_p.R39fs	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	Homo sapiens stereocilin (STRC), mRNA.	1521					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		ACGAAATCCCCGGGGGGGACCC	0.530												
SLC30A4	7782	broad.mit.edu	37	15	45814243	45814244	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:45814242_45814243A>ATC	uc001zvj.3	-	1	622_623	c.310_311T>GAT	c.(310-312)atafs	p.I104fs	HMGN2P46_uc010beg.1_Intron|HMGN2P46_uc010beh.1_Intron|HMGN2P46_uc010bei.1_Intron|HMGN2P46_uc010bej.1_Intron|HMGN2P46_uc001zvn.1_Intron|HMGN2P46_uc001zvm.1_Intron	NM_013309	NP_037441	O14863	ZNT4_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 4 (SLC30A4), mRNA.	104					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		CTGCTTCAGTATCTCTCTCTGT	0.475												
PIGB	9488	broad.mit.edu	37	15	55621922	55621922	+	Splice_Site	DEL	T	T	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr15:55621921_55621921GT>G	uc002act.3	+	5	839	c.523_splice	c.e5-1	p.F175_splice	PIGB_uc010ugg.2_Splice_Site	NM_004855	NP_004846	Q92521	PIGB_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class B (PIGB), mRNA.	175					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CTTTTTCTTAGTTTTTTTGCC	0.343												
MSLN	10232	broad.mit.edu	37	16	815527	815527	+	Splice_Site	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:815526_815526GC>G	uc002cjw.2	+	9	816	c.705_splice	c.e9-1	p.G235_splice	MSLN_uc002cju.1_Splice_Site_p.G235_splice|MSLN_uc002cjt.1_Splice_Site_p.G235_splice|MSLN_uc010brd.1_Splice_Site_p.G234_splice|MSLN_uc002cjy.1_5'Flank	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	235					cell adhesion	Golgi apparatus|anchored to membrane|extracellular region|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				TGTCTGCACAGCCCCCCGTCG	0.706												
CCNF	899	broad.mit.edu	37	16	2503467	2503467	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:2503466_2503466AC>A	uc002cqd.1	+	14	1731	c.1643_1643AC>A	c.(1642-1644)gacfs	p.D548fs	CCNF_uc002cqe.1_Frame_Shift_Del_p.D240fs	NM_001761	NP_001752	P41002	CCNF_HUMAN	Homo sapiens cyclin F (CCNF), mRNA.	548					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination	SCF ubiquitin ligase complex|centriole|nucleus	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GACAGCCCCGACCCCCCGACT	0.617												
TIGD7	91151	broad.mit.edu	37	16	3350472	3350472	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:3350471_3350471AT>A	uc021tcc.1	-	0	144	c.144_144AT>T	c.(142-144)aatfs	p.N48fs	ZNF263_uc002cur.2_3'UTR|TIGD7_uc002cus.3_Frame_Shift_Del_p.N48fs	NM_033208	NP_149985	Q6NT04	TIGD7_HUMAN	Homo sapiens tigger transposable element derived 7 (TIGD7), mRNA.	48	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TTAACTTCTTATTTTTTTTAA	0.363												
GLYR1	84656	broad.mit.edu	37	16	4862229	4862230	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:4862228_4862229G>GC	uc002cxx.4	-	12	1177_1178	c.1140_1141C>GC	c.(1138-1143)gggcgcfs	p.G380fs	GLYR1_uc002cxy.3_Non-coding_Transcript|GLYR1_uc002cxz.1_Frame_Shift_Ins_p.G294fs|GLYR1_uc002cya.2_Frame_Shift_Ins_p.G374fs|GLYR1_uc010uxv.1_Frame_Shift_Ins_p.G299fs	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	Homo sapiens glyoxylate reductase 1 homolog (Arabidopsis) (GLYR1), mRNA.	380					pentose-phosphate shunt	nucleus	DNA binding|coenzyme binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity	p.R381fs*15(2)|p.G379R(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						TCCAGAAAGCGCCCCCCCCTGG	0.574												
CIITA	4261	broad.mit.edu	37	16	11001305	11001306	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:11001304_11001305G>GC	uc002daj.4	+	10	2091_2092	c.1958_1959G>GC	c.(1957-1959)agcfs	p.S653fs	CIITA_uc002dai.4_Frame_Shift_Ins_p.S652fs|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Frame_Shift_Ins_p.S652fs|CIITA_uc002dah.2_Frame_Shift_Ins_p.S604fs|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	652	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GCCCTCGACAGCCCCCCCGGGG	0.678			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """							
KIAA0430	9665	broad.mit.edu	37	16	15724194	15724194	+	Frame_Shift_Del	DEL	T	T	-	rs35574149		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:15724193_15724193AT>A	uc002ddr.3	-	6	1727	c.1520_1520AT>T	c.(1519-1521)atgfs	p.M507fs	KIAA0430_uc002ddq.3_Frame_Shift_Del_p.M506fs|KIAA0430_uc010uzv.2_Frame_Shift_Del_p.M504fs|KIAA0430_uc010uzw.2_Frame_Shift_Del_p.M507fs	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	506						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						ACTTACTGGCATTTTTAGTGG	0.468												
ABCC11	85320	broad.mit.edu	37	16	48261862	48261862	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:48261861_48261861TG>T	uc002eff.1	-	2	601	c.251_251CA>A	c.(250-252)cagfs	p.Q84fs	ABCC11_uc002efg.1_Frame_Shift_Del_p.Q84fs|ABCC11_uc002efh.1_Frame_Shift_Del_p.Q84fs|ABCC11_uc010vgl.1_Frame_Shift_Del_p.Q84fs	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	84						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.P83L(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GTCCAGGGGCTGGGGGGCAGG	0.498												
CSNK2A2	1459	broad.mit.edu	37	16	58202515	58202515	+	Splice_Site	DEL	T	T	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:58202514_58202514CT>C	uc002enc.3	-	6	655	c.513_splice	c.e6+1	p.K171_splice		NM_001896	NP_001887	P19784	CSK22_HUMAN	Homo sapiens casein kinase 2, alpha prime polypeptide (CSNK2A2), mRNA.	171	Protein kinase.				Wnt receptor signaling pathway|axon guidance	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						GTAATGGTACCTTTTTCTGTT	0.463												
ZC3H18	124245	broad.mit.edu	37	16	88691141	88691142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr16:88691140_88691141A>AC	uc010voz.2	+	12	2301_2302	c.2101_2102A>AC	c.(2101-2103)accfs	p.T701fs	ZC3H18_uc002fky.3_Frame_Shift_Ins_p.T677fs|ZC3H18_uc010chw.3_Non-coding_Transcript|ZC3H18_uc002fkz.3_5'Flank	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	677	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding	p.R680fs*5(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GCCAGCCAGGACCCCCCCCAGG	0.663												
ZZEF1	23140	broad.mit.edu	37	17	3962504	3962504	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:3962503_3962503CA>C	uc002fxe.3	-	30	5029	c.4965_4965TG>G	c.(4963-4965)ttgfs	p.L1655fs	ZZEF1_uc002fxh.3_5'UTR|ZZEF1_uc002fxi.3_5'UTR|ZZEF1_uc002fxj.1_Frame_Shift_Del_p.L268fs|5S_rRNA_uc021tnx.1_5'Flank	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	1655							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTGCTTTGACCAAAAACAGAA	0.328												
PITPNM3	83394	broad.mit.edu	37	17	6387014	6387015	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:6387013_6387014T>TC	uc002gdd.4	-	5	561_562	c.410_411A>GA	c.(409-411)ggafs	p.G137fs	PITPNM3_uc010cln.3_Frame_Shift_Ins_p.G101fs|PITPNM3_uc002gdc.4_5'Flank	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.	137					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CCAGGATGTTTCCCCCATGCAG	0.629												
TP53	7157	broad.mit.edu	37	17	7578535	7578537	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:7578534_7578536CTTG>C	uc002gim.2	-	4	588_590	c.394_396CAAG>G	c.(394-396)aag>G	p.K132del	TP53_uc002gig.1_In_Frame_Del_p.K132del|TP53_uc002gih.3_In_Frame_Del_p.K132del|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_In_Frame_Del_p.K132del|TP53_uc010cnh.1_In_Frame_Del_p.K132del|TP53_uc002gij.2_In_Frame_Del_p.K132del|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_In_Frame_Del_p.K39del|TP53_uc002gio.2_5'UTR|TP53_uc010vug.2_In_Frame_Del_p.K93del	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	132	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.K132N(94)|p.K132R(79)|p.K132E(40)|p.K132Q(26)|p.K132M(20)|p.N131del(14)|p.Y126_K132delYSPALNK(12)|p.K132T(12)|p.N131Y(8)|p.0?(8)|p.K132*(7)|p.N131I(5)|p.N131fs*27(4)|p.K132fs*38(4)|p.N131fs*39(3)|p.K39R(3)|p.N131S(3)|p.Y126_N131delYSPALN(3)|p.N131H(2)|p.S127_Q136del10(2)|p.A129_K132delALNK(2)|p.L130_M133delLNKM(2)|p.K39N(2)|p.N131K(2)|p.K132_A138delKMFCQLA(2)|p.K132K(2)|p.K132W(2)|p.Y126fs*11(1)|p.A129_N131delALN(1)|p.M133fs*16(1)|p.V73fs*9(1)|p.L130fs*16(1)|p.K39E(1)|p.N131N(1)|p.K132_M133del(1)|p.N131T(1)|p.M133fs*37(1)|p.K39T(1)|p.S127fs*36(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCAAAACATCTTGTTGAGGGCA	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
SHMT1	6470	broad.mit.edu	37	17	18259317	18259318	+	Splice_Site	INS	-	-	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:18259316_18259317T>TA	uc002gta.3	-	2	172	c.-18_splice	c.e2-1		SHMT1_uc002gtb.3_Splice_Site|SHMT1_uc010vxt.2_Splice_Site|SHMT1_uc002gtd.1_Splice_Site|SHMT1_uc010vxu.1_Splice_Site	NM_004169	NP_004160	P34896	GLYC_HUMAN	Homo sapiens serine hydroxymethyltransferase 1 (soluble) (SHMT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.						L-serine catabolic process|carnitine biosynthetic process|folic acid metabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CGAAGCTGCCTAAAAAAATGGG	0.406												
UBC	7316	broad.mit.edu	37	17	21731262	21731262	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:21731261_21731261TC>T	uc002gyy.3	+	1	688	c.563_563TC>T	c.(562-564)atcfs	p.I188fs				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	340	Ubiquitin-like 3.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		AAAGAAGGCATCCCCCCGATC	0.537												
KRTAP1-1	81851	broad.mit.edu	37	17	39197254	39197254	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:39197253_39197253AG>A	uc002hvw.1	-	0	461	c.397_397CT>T	c.(397-399)tgcfs	p.C133fs		NM_030967	NP_112229	Q07627	KRA11_HUMAN	Homo sapiens keratin associated protein 1-1 (KRTAP1-1), mRNA.	133						extracellular region|keratin filament				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACCACGCAGCAGGGGGGCAGG	0.677												
TAC4	255061	broad.mit.edu	37	17	47918915	47918915	+	Splice_Site	DEL	T	T	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:47918914_47918914CT>C	uc002ipo.1	-	3	250	c.250_splice	c.e3+1	p.A84_splice	TAC4_uc002ipp.1_Splice_Site_p.A78_splice|TAC4_uc002ipq.1_Splice_Site_p.G78_splice|TAC4_uc002ipr.1_Intron|TAC4_uc002ips.1_Intron	NM_170685	NP_733786	Q86UU9	TKN4_HUMAN	Homo sapiens tachykinin 4 (hemokinin) (TAC4), transcript variant alpha, mRNA.	84					regulation of blood pressure	extracellular region				breast(1)|large_intestine(1)|lung(3)	5						CAATACTTACCTTTTTTTCTC	0.552												
XYLT2	64132	broad.mit.edu	37	17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TATGGCAGCTACCCCCCCGGC	0.602												
RNF43	54894	broad.mit.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	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												
ASXL3	80816	broad.mit.edu	37	18	31326067	31326067	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:31326066_31326066CT>C	uc010dmg.1	+	11	6309	c.6254_6254CT>C	c.(6253-6255)tctfs	p.S2085fs	ASXL3_uc002kxq.2_Frame_Shift_Del_p.S1792fs	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	2085					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAACCTCTTTCTTTTGAGGAA	0.408												
ALPK2	115701	broad.mit.edu	37	18	56246941	56246941	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr18:56246940_56246940TA>T	uc002lhj.4	-	3	1282	c.1068_1068TA>A	c.(1066-1068)ttafs	p.L356fs		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	356							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CGCTTTCTAATAAAAAAACAT	0.483											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GAMT	2593	broad.mit.edu	37	19	1398959	1398960	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:1398958_1398959T>TC	uc002lsj.3	-	4	603_604	c.526_527A>GA	c.(526-528)gagfs	p.E176fs	AK126693_uc002lsi.1_5'Flank|GAMT_uc002lsk.3_Frame_Shift_Ins_p.E176fs	NM_000156	NP_000147	Q14353	GAMT_HUMAN	Homo sapiens guanidinoacetate N-methyltransferase (GAMT), transcript variant 1, mRNA.	176					creatine biosynthetic process|muscle contraction	cytosol	guanidinoacetate N-methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|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)	Creatine(DB00148)	CTTCATCAGCTCCCCCCAGGAG	0.604												
KDM4B	23030	broad.mit.edu	37	19	5144151	5144151	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:5144150_5144150CG>C	uc010xim.2	+	18	2933	c.2825_2825CG>C	c.(2824-2826)tcgfs	p.S942fs	KDM4B_uc002mbq.4_Frame_Shift_Del_p.S908fs|KDM4B_uc002mbr.4_Frame_Shift_Del_p.S666fs	NM_015015	NP_055830	O94953	KDM4B_HUMAN	Homo sapiens lysine (K)-specific demethylase 4B (KDM4B), mRNA.	908	Tudor 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AAGCACAAGTCGGGGGGTCAC	0.711												
LRRC8E	80131	broad.mit.edu	37	19	7965709	7965710	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:7965708_7965709T>TG	uc002mir.3	+	2	2402_2403	c.2301_2302T>TG	c.(2299-2304)tgtgggfs	p.C767fs		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA.	767						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						TTGGCAACTGTGGGGGGCTCAA	0.634												
FBN3	84467	broad.mit.edu	37	19	8171075	8171075	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:8171074_8171074AC>A	uc002mjf.3	-	36	4748	c.4731_4731GT>T	c.(4729-4731)ggtfs	p.G1577fs		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1577	EGF-like 24; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGACGCAGTCACCCCCCTGAC	0.562												
ZNF563	147837	broad.mit.edu	37	19	12430217	12430218	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:12430216_12430217C>CA	uc002mtp.3	-	3	860_861	c.622_623G>TG	c.(622-624)tggfs	p.W208fs	ZNF563_uc002mtq.2_Intron	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN	Homo sapiens zinc finger protein 563 (ZNF563), mRNA.	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TAAACTGGGCCAAAAAAAAGCT	0.391												
RTBDN	83546	broad.mit.edu	37	19	12939514	12939514	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:12939513_12939513AC>A	uc002mvj.3	-	4	737	c.419_419GT>T	c.(418-420)gtafs	p.V140fs	RTBDN_uc002mvh.1_Frame_Shift_Del_p.V140fs|RTBDN_uc002mvi.3_Frame_Shift_Del_p.V108fs|RTBDN_uc021upo.1_Frame_Shift_Del_p.V118fs	NM_031429	NP_001074466	Q9BSG5	RTBDN_HUMAN	Homo sapiens retbindin (RTBDN), transcript variant 2, mRNA.	108						extracellular region				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						TGCCTGGCGTACCCCCAATAG	0.657												
NOTCH3	4854	broad.mit.edu	37	19	15296358	15296358	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:15296357_15296357CG>C	uc002nan.3	-	12	2161	c.2085_2085CG>G	c.(2083-2085)ccgfs	p.P695fs	NOTCH3_uc002nao.1_Frame_Shift_Del_p.P695fs	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	695	EGF-like 18.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGGGATGGCTCGGGGGGAGGC	0.662												
POLD1	5424	broad.mit.edu	37	19	50905324	50905325	+	Frame_Shift_Ins	INS	-	-	G	rs140707092		TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr19:50905323_50905324C>CG	uc010eny.3	+	3	532_533	c.531_532C>CG	c.(529-534)cgcgggfs	p.R177fs	POLD1_uc002psb.4_Frame_Shift_Ins_p.R177fs|POLD1_uc002psc.4_Frame_Shift_Ins_p.R177fs|POLD1_uc010enx.3_Non-coding_Transcript	NM_002691	NP_002682	P28340	DPOD1_HUMAN	Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA.	177			R -> H (in dbSNP:rs3218750).		DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding	p.R177R(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGGACAGTCGCGGGGGGAGGGA	0.673								DNA polymerases (catalytic subunits)				
DNMT3B	1789	broad.mit.edu	37	20	31384651	31384652	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:31384650_31384651A>AG	uc002wyc.3	+	12	1673_1674	c.1352_1353A>AG	c.(1351-1353)gagfs	p.E451fs	DNMT3B_uc010ztx.1_Non-coding_Transcript|DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Frame_Shift_Ins_p.E431fs|DNMT3B_uc002wye.3_Frame_Shift_Ins_p.E431fs|DNMT3B_uc010ztz.2_Frame_Shift_Ins_p.E389fs|DNMT3B_uc010zua.2_Frame_Shift_Ins_p.E355fs|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Frame_Shift_Ins_p.E443fs|DNMT3B_uc002wyg.3_Frame_Shift_Ins_p.E150fs	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	451	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCTCTTTGAGGGGGGGCTCT	0.559												
TGIF2	60436	broad.mit.edu	37	20	35219613	35219616	+	Frame_Shift_Del	DEL	ACTC	ACTC	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:35219612_35219615TACTC>T	uc021wcv.1	+	2	706_709	c.492_495TACTC>T	c.(490-495)cttactfs	p.L164fs	TGIF2_uc021wcu.1_Frame_Shift_Del_p.L164fs|TGIF2_uc002xfn.3_Frame_Shift_Del_p.L164fs|TGIF2_uc021wcw.1_Frame_Shift_Del_p.L164fs|TGIF2_uc002xfo.3_Intron	NM_001199514	NP_001186443	Q9GZN2	TGIF2_HUMAN	Homo sapiens TGFB-induced factor homeobox 2 (TGIF2), transcript variant 1, mRNA.	164	Repressive function.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GTAGCACACTTACTCTGCTGACCA	0.627												
EMILIN3	90187	broad.mit.edu	37	20	39990829	39990829	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr20:39990828_39990828AC>A	uc002xjy.1	-	3	1605	c.1381_1381GT>T	c.(1381-1383)tggfs	p.W461fs		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	461						proteinaceous extracellular matrix		p.W461fs*31(2)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CCCACTCCCCACCCCCCCATG	0.642												
PKDREJ	10343	broad.mit.edu	37	22	46657109	46657110	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:46657108_46657109T>TA	uc003bhh.3	-	0	2111_2112	c.2111_2112A>TA	c.(2110-2112)ttafs	p.L704fs		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	704	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AACCTGCAGGTAAAAAATCCTT	0.376												
CELSR1	9620	broad.mit.edu	37	22	46776791	46776791	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chr22:46776790_46776790GC>G	uc003bhw.1	-	21	7151	c.7151_7151GC>C	c.(7150-7152)gctfs	p.A2384fs	CELSR1_uc011arc.1_Frame_Shift_Del_p.A705fs	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	2384					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		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)		CGGGAGCGGAGCCCCCTCGCT	0.627												
NHS	4810	broad.mit.edu	37	X	17710497	17710497	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:17710496_17710496GC>G	uc011mix.2	+	2	1098	c.760_760GC>G	c.(760-762)gccfs	p.A254fs	NHS_uc004cxx.3_Frame_Shift_Del_p.A254fs|NHS_uc004cxy.3_Frame_Shift_Del_p.A77fs|NHS_uc004cxz.3_Frame_Shift_Del_p.A77fs|NHS_uc004cya.3_5'UTR	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	254						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AAGAGCAGCTGCCCCCCTTTC	0.502												
BCOR	54880	broad.mit.edu	37	X	39913253	39913253	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:39913252_39913252TG>T	uc004den.4	-	13	5155	c.4863_4863CA>A	c.(4861-4863)ccafs	p.P1621fs	BCOR_uc004dep.4_Frame_Shift_Del_p.P1587fs|BCOR_uc004deo.4_Frame_Shift_Del_p.P1569fs|BCOR_uc010nhb.3_Frame_Shift_Del_p.P329fs|BCOR_uc004dem.4_Frame_Shift_Del_p.P1587fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1621					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			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						CTTCTGGTCCTGGGGGGTTGG	0.433			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic					
MTMR8	55613	broad.mit.edu	37	X	63557257	63557257	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:63557256_63557256CT>C	uc004dvs.3	-	8	1083	c.993_993AG>G	c.(991-993)aagfs	p.K331fs	MTMR8_uc011mou.2_Frame_Shift_Del_p.K331fs	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.	331	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AGACACTGGCCTTTTCTACCT	0.453												
CDX4	1046	broad.mit.edu	37	X	72667321	72667321	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:72667320_72667320TC>T	uc011mqk.2	+	0	231	c.231_231TC>T	c.(229-231)agtfs	p.S77fs		NM_005193	NP_005184	O14627	CDX4_HUMAN	Homo sapiens caudal type homeobox 4 (CDX4), mRNA.	77						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					CACCCTACAGTCCCCCGCGAG	0.612												
ZNF711	7552	broad.mit.edu	37	X	84526621	84526621	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:84526620_84526620TA>T	uc004eeq.3	+	9	3096	c.2210_2210TA>T	c.(2209-2211)ctafs	p.L737fs	ZNF711_uc004eep.3_Frame_Shift_Del_p.L691fs|ZNF711_uc004eeo.3_Frame_Shift_Del_p.L691fs|ZNF711_uc011mqy.1_Frame_Shift_Del_p.L290fs	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	691					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CAAAATGAGCTAAAAAAACAT	0.363												
CXorf57	55086	broad.mit.edu	37	X	105881027	105881028	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:105881026_105881027T>TA	uc004emi.4	+	7	1596_1597	c.1445_1446T>TA	c.(1444-1446)gtafs	p.V482fs	CXorf57_uc004emj.4_Splice_Site_p.K481_splice|CXorf57_uc004emh.2_Frame_Shift_Ins_p.V482fs|Mir_548_uc022ccb.1_5'Flank	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.	482										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GATGCCAAGGTAAAAAACTTTA	0.396												
SRPK3	26576	broad.mit.edu	37	X	153048690	153048690	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:153048689_153048689GC>G	uc004fik.3	+	13	3380	c.955_955GC>G	c.(955-957)gccfs	p.A319fs	SRPK3_uc004fim.3_Frame_Shift_Del_p.A253fs|SRPK3_uc004fil.3_Frame_Shift_Del_p.A253fs|SRPK3_uc004fin.3_Frame_Shift_Del_p.A253fs|SRPK3_uc010nul.3_Frame_Shift_Del_p.A211fs	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	Homo sapiens SRSF protein kinase 3 (SRPK3), transcript variant 1, mRNA.	253	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTCAGCACTGCCCCCCAGGA	0.667												
MPP1	4354	broad.mit.edu	37	X	154007602	154007604	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-7707-01A-11D-2053-08	TCGA-BR-7707-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fff6694b-3619-4051-a868-c1fc86d59ce4	56b185dd-0b23-4ebb-8961-0f7538a940ab	g.chrX:154007601_154007603CCTT>C	uc004fmp.2	-	11	1404_1406	c.1250_1252AAGG>G	c.(1249-1254)aaggac>aGac	p.417_418KD>R	MPP1_uc011mzv.2_In_Frame_Del_p.387_388KD>R|MPP1_uc010nvg.2_In_Frame_Del_p.397_398KD>R|MPP1_uc011mzw.2_In_Frame_Del_p.400_401KD>R	NM_002436	NP_002427	Q00013	EM55_HUMAN	Homo sapiens membrane protein, palmitoylated 1, 55kDa (MPP1), transcript variant 1, mRNA.	417	Guanylate kinase-like.|Interaction with MPP5.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCCTCAGAGTCCTTCTGCAGCTG	0.502